KEGG   Homo sapiens (human): 4068
Entry
4068              CDS       T01001                                 
Symbol
SH2D1A, DSHP, EBVS, IMD5, LYP, MTCP1, SAP, SAP/SH2D1A, XLP, XLPD, XLPD1
Name
(RefSeq) SH2 domain containing 1A
  KO
K07990  SH2 domain-containing protein 1A
Organism
hsa  Homo sapiens (human)
Pathway
hsa04517  IgSF CAM signaling
hsa04650  Natural killer cell mediated cytotoxicity
Network
nt06546  IgSF CAM signaling
  Element
N01967  SLAMF interactions
Disease
H00107  Other well-defined immunodeficiency syndromes
H01969  X-linked lymphoproliferative syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04517 IgSF CAM signaling
    4068 (SH2D1A)
 09150 Organismal Systems
  09151 Immune system
   04650 Natural killer cell mediated cytotoxicity
    4068 (SH2D1A)
SSDB
Motif
Pfam: SH2
Other DBs
NCBI-GeneID: 4068
NCBI-ProteinID: NP_002342
OMIM: 300490
HGNC: 10820
Ensembl: ENSG00000183918
UniProt: O60880
Structure
LinkDB
Position
X:124346563..124373160
AA seq 128 aa
MDAVAVYHGKISRETGEKLLLATGLDGSYLLRDSESVPGVYCLCVLYHGYIYTYRVSQTE
TGSWSAETAPGVHKRYFRKIKNLISAFQKPDQGIVIPLQYPVEKKSSARSTQGTTGIRED
PDVCLKAP
NT seq 387 nt   +upstreamnt  +downstreamnt
atggacgcagtggctgtgtatcatggcaaaatcagcagggaaaccggcgagaagctcctg
cttgccactgggctggatggcagctatttgctgagggacagcgagagcgtgccaggcgtg
tactgcctatgtgtgctgtatcacggttacatttatacataccgagtgtcccagacagaa
acaggttcttggagtgctgagacagcacctggggtacataaaagatatttccggaaaata
aaaaatctcatttcagcatttcagaagccagatcaaggcattgtaatacctctgcagtat
ccagttgagaagaagtcctcagctagaagtacacaaggtactacagggataagagaagat
cctgatgtctgcctgaaagccccatga

KEGG   Homo sapiens (human): 117157
Entry
117157            CDS       T01001                                 
Symbol
SH2D1B, EAT2
Name
(RefSeq) SH2 domain containing 1B
  KO
K07989  SH2 domain-containing protein 1B
Organism
hsa  Homo sapiens (human)
Pathway
hsa04517  IgSF CAM signaling
hsa04650  Natural killer cell mediated cytotoxicity
Network
nt06546  IgSF CAM signaling
  Element
N01967  SLAMF interactions
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04517 IgSF CAM signaling
    117157 (SH2D1B)
 09150 Organismal Systems
  09151 Immune system
   04650 Natural killer cell mediated cytotoxicity
    117157 (SH2D1B)
SSDB
Motif
Pfam: SH2 DUF7063 DUF7145 AA_permease_N
Other DBs
NCBI-GeneID: 117157
NCBI-ProteinID: NP_444512
OMIM: 608510
HGNC: 30416
Ensembl: ENSG00000198574
UniProt: O14796
Structure
LinkDB
Position
1:complement(162395268..162412136)
AA seq 132 aa
MDLPYYHGRLTKQDCETLLLKEGVDGNFLLRDSESIPGVLCLCVSFKNIVYTYRIFREKH
GYYRIQTAEGSPKQVFPSLKELISKFEKPNQGMVVHLLKPIKRTSPSLRWRGLKLELETF
VNSNSDYVDVLP
NT seq 399 nt   +upstreamnt  +downstreamnt
atggatctgccttactaccatggacgtctgaccaagcaagactgtgagaccttgctgctc
aaggaaggggtggatggcaactttcttttaagagacagcgagtcgataccaggagtcctg
tgcctctgtgtctcgtttaaaaatattgtctacacataccgaatcttcagagagaaacac
gggtattacaggatacagactgcagaaggttctccaaaacaggtctttccaagcctaaag
gaactgatctccaaatttgaaaaaccaaatcaggggatggtggttcaccttttaaagcca
ataaagagaaccagccccagcttgagatggagaggattgaaattagagttggaaacattt
gtgaacagtaacagcgattatgtggatgtcttgccttga

KEGG   Homo sapiens (human): 2534
Entry
2534              CDS       T01001                                 
Symbol
FYN, SLK, SYN, p59-FYN
Name
(RefSeq) FYN proto-oncogene, Src family tyrosine kinase
  KO
K05703  tyrosine-protein kinase Fyn [EC:2.7.10.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04071  Sphingolipid signaling pathway
hsa04072  Phospholipase D signaling pathway
hsa04360  Axon guidance
hsa04380  Osteoclast differentiation
hsa04510  Focal adhesion
hsa04517  IgSF CAM signaling
hsa04520  Adherens junction
hsa04611  Platelet activation
hsa04650  Natural killer cell mediated cytotoxicity
hsa04660  T cell receptor signaling pathway
hsa04664  Fc epsilon RI signaling pathway
hsa04725  Cholinergic synapse
hsa05020  Prion disease
hsa05130  Pathogenic Escherichia coli infection
hsa05416  Viral myocarditis
Network
nt06180  Pathogenic Escherichia coli
nt06183  Yersinia
nt06465  Prion disease
nt06537  TCR/BCR signaling
nt06541  Cytoskeleton in neurons
nt06546  IgSF CAM signaling
  Element
N01093  Escherichia EspJ/Tir to Actin signaling pathway
N01106  TCR-PLCG-ITPR signaling pathway
N01204  PRNP-PI3K-NOX2 signaling pathway
N01205  Scrapie conformation PrPSc to PRNP-PI3K-NOX2 signaling pathway
N01835  SEMA3-CRMP2/MAPT axon guidance signaling
N01967  SLAMF interactions
Drug target
Dasatinib (DG00714): D03658<JP> D06414<JP/US> D12609
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04072 Phospholipase D signaling pathway
    2534 (FYN)
   04071 Sphingolipid signaling pathway
    2534 (FYN)
  09133 Signaling molecules and interaction
   04517 IgSF CAM signaling
    2534 (FYN)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    2534 (FYN)
   04520 Adherens junction
    2534 (FYN)
 09150 Organismal Systems
  09151 Immune system
   04611 Platelet activation
    2534 (FYN)
   04650 Natural killer cell mediated cytotoxicity
    2534 (FYN)
   04660 T cell receptor signaling pathway
    2534 (FYN)
   04664 Fc epsilon RI signaling pathway
    2534 (FYN)
  09156 Nervous system
   04725 Cholinergic synapse
    2534 (FYN)
  09158 Development and regeneration
   04360 Axon guidance
    2534 (FYN)
   04380 Osteoclast differentiation
    2534 (FYN)
 09160 Human Diseases
  09171 Infectious disease: bacterial
   05130 Pathogenic Escherichia coli infection
    2534 (FYN)
  09164 Neurodegenerative disease
   05020 Prion disease
    2534 (FYN)
  09166 Cardiovascular disease
   05416 Viral myocarditis
    2534 (FYN)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01001 Protein kinases [BR:hsa01001]
    2534 (FYN)
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    2534 (FYN)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.10  Protein-tyrosine kinases
    2.7.10.2  non-specific protein-tyrosine kinase
     2534 (FYN)
Protein kinases [BR:hsa01001]
 Non-receptor tyrosine kinases
  SRC family
   2534 (FYN)
Membrane trafficking [BR:hsa04131]
 Exocytosis
  Calcium ion-dependent exocytosis
   Kinases and associated proteins
    2534 (FYN)
 Endocytosis
  Lipid raft mediated endocytosis
   Flotillin-dependent endocytosis
    2534 (FYN)
SSDB
Motif
Pfam: PK_Tyr_Ser-Thr Pkinase SH2 SH3_1 SH3_9 SH3_2 SH3_10 SH3_3 Haspin_kinase ABC1 SH2_1 zf-RING_14 DUF7063
Other DBs
NCBI-GeneID: 2534
NCBI-ProteinID: NP_001357458
OMIM: 137025
HGNC: 4037
Ensembl: ENSG00000010810
UniProt: P06241
Structure
LinkDB
Position
6:complement(111660332..111873452)
AA seq 537 aa
MGCVQCKDKEATKLTEERDGSLNQSSGYRYGTDPTPQHYPSFGVTSIPNYNNFHAAGGQG
LTVFGGVNSSSHTGTLRTRGGTGVTLFVALYDYEARTEDDLSFHKGEKFQILNSSEGDWW
EARSLTTGETGYIPSNYVAPVDSIQAEEWYFGKLGRKDAERQLLSFGNPRGTFLIRESET
TKGAYSLSIRDWDDMKGDHVKHYKIRKLDNGGYYITTRAQFETLQQLVQHYSERAAGLCC
RLVVPCHKGMPRLTDLSVKTKDVWEIPRESLQLIKRLGNGQFGEVWMGTWNGNTKVAIKT
LKPGTMSPESFLEEAQIMKKLKHDKLVQLYAVVSEEPIYIVTEYMNKGSLLDFLKDGEGR
ALKLPNLVDMAAQVAAGMAYIERMNYIHRDLRSANILVGNGLICKIADFGLARLIEDNEY
TARQGAKFPIKWTAPEAALYGRFTIKSDVWSFGILLTELVTKGRVPYPGMNNREVLEQVE
RGYRMPCPQDCPISLHELMIHCWKKDPEERPTFEYLQSFLEDYFTATEPQYQPGENL
NT seq 1614 nt   +upstreamnt  +downstreamnt
atgggctgtgtgcaatgtaaggataaagaagcaacaaaactgacggaggagagggacggc
agcctgaaccagagctctgggtaccgctatggcacagaccccacccctcagcactacccc
agcttcggtgtgacctccatccccaactacaacaacttccacgcagccgggggccaagga
ctcaccgtctttggaggtgtgaactcttcgtctcatacggggaccttgcgtacgagagga
ggaacaggagtgacactctttgtggccctttatgactatgaagcacggacagaagatgac
ctgagttttcacaaaggagaaaaatttcaaatattgaacagctcggaaggagattggtgg
gaagcccgctccttgacaactggagagacaggttacattcccagcaattatgtggctcca
gttgactctatccaggcagaagagtggtactttggaaaacttggccgaaaagatgctgag
cgacagctattgtcctttggaaacccaagaggtacctttcttatccgcgagagtgaaacc
accaaaggtgcctattcactttctatccgtgattgggatgatatgaaaggagaccatgtc
aaacattataaaattcgcaaacttgacaatggtggatactacattaccacccgggcccag
tttgaaacacttcagcagcttgtacaacattactcagagagagctgcaggtctctgctgc
cgcctagtagttccctgtcacaaagggatgccaaggcttaccgatctgtctgtcaaaacc
aaagatgtctgggaaatccctcgagaatccctgcagttgatcaagagactgggaaatggg
cagtttggggaagtatggatgggtacctggaatggaaacacaaaagtagccataaagact
cttaaaccaggcacaatgtcccccgaatcattccttgaggaagcgcagatcatgaagaag
ctgaagcacgacaagctggtccagctctatgcagtggtgtctgaggagcccatctacatc
gtcaccgagtatatgaacaaaggaagtttactggatttcttaaaagatggagaaggaaga
gctctgaaattaccaaatcttgtggacatggcagcacaggtggctgcaggaatggcttac
atcgagcgcatgaattatatccatagagatctgcgatcagcaaacattctagtggggaat
ggactcatatgcaagattgctgacttcggattggcccgattgatagaagacaatgagtac
acagcaagacaaggtgcaaagttccccatcaagtggacggcccccgaggcagccctgtac
gggaggttcacaatcaagtctgacgtgtggtcttttggaatcttactcacagagctggtc
accaaaggaagagtgccatacccaggcatgaacaaccgggaggtgctggagcaggtggag
cgaggctacaggatgccctgcccgcaggactgccccatctctctgcatgagctcatgatc
cactgctggaaaaaggaccctgaagaacgccccacttttgagtacttgcagagcttcctg
gaagactactttaccgcgacagagccccagtaccaacctggtgaaaacctgtaa

KEGG   Homo sapiens (human): 3932
Entry
3932              CDS       T01001                                 
Symbol
LCK, IMD22, LSK, YT16, p56lck, pp58lck
Name
(RefSeq) LCK proto-oncogene, Src family tyrosine kinase
  KO
K05856  lymphocyte cell-specific protein tyrosine kinase [EC:2.7.10.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04064  NF-kappa B signaling pathway
hsa04380  Osteoclast differentiation
hsa04517  IgSF CAM signaling
hsa04650  Natural killer cell mediated cytotoxicity
hsa04658  Th1 and Th2 cell differentiation
hsa04659  Th17 cell differentiation
hsa04660  T cell receptor signaling pathway
hsa05135  Yersinia infection
hsa05166  Human T-cell leukemia virus 1 infection
hsa05235  PD-L1 expression and PD-1 checkpoint pathway in cancer
hsa05340  Primary immunodeficiency
Network
nt06160  Human T-cell leukemia virus 1 (HTLV-1)
nt06183  Yersinia
nt06537  TCR/BCR signaling
nt06546  IgSF CAM signaling
  Element
N00511  HTLV-1 Tax to E47-mediated transcription
N01106  TCR-PLCG-ITPR signaling pathway
N01107  Yersinia YopH to TCR-NFAT signaling pathway
N01967  SLAMF interactions
Disease
H00093  Combined immunodeficiency
Drug target
Dasatinib (DG00714): D03658<JP> D06414<JP/US> D12609
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04064 NF-kappa B signaling pathway
    3932 (LCK)
  09133 Signaling molecules and interaction
   04517 IgSF CAM signaling
    3932 (LCK)
 09150 Organismal Systems
  09151 Immune system
   04650 Natural killer cell mediated cytotoxicity
    3932 (LCK)
   04660 T cell receptor signaling pathway
    3932 (LCK)
   04658 Th1 and Th2 cell differentiation
    3932 (LCK)
   04659 Th17 cell differentiation
    3932 (LCK)
  09158 Development and regeneration
   04380 Osteoclast differentiation
    3932 (LCK)
 09160 Human Diseases
  09161 Cancer: overview
   05235 PD-L1 expression and PD-1 checkpoint pathway in cancer
    3932 (LCK)
  09172 Infectious disease: viral
   05166 Human T-cell leukemia virus 1 infection
    3932 (LCK)
  09171 Infectious disease: bacterial
   05135 Yersinia infection
    3932 (LCK)
  09163 Immune disease
   05340 Primary immunodeficiency
    3932 (LCK)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01001 Protein kinases [BR:hsa01001]
    3932 (LCK)
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    3932 (LCK)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.10  Protein-tyrosine kinases
    2.7.10.2  non-specific protein-tyrosine kinase
     3932 (LCK)
Protein kinases [BR:hsa01001]
 Non-receptor tyrosine kinases
  SRC family
   3932 (LCK)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation proteins
   Kinases and associated factors
    3932 (LCK)
SSDB
Motif
Pfam: PK_Tyr_Ser-Thr Pkinase SH2 SH3_1 SH3_2 SH3_9 ABC1 SH2_1 Haspin_kinase SH3_16 SH3_3
Other DBs
NCBI-GeneID: 3932
NCBI-ProteinID: NP_001036236
OMIM: 153390
HGNC: 6524
Ensembl: ENSG00000182866
UniProt: P06239 A0A0S2Z3Y8
Structure
LinkDB
Position
1:32251265..32286165
AA seq 509 aa
MGCGCSSHPEDDWMENIDVCENCHYPIVPLDGKGTLLIRNGSEVRDPLVTYEGSNPPASP
LQDNLVIALHSYEPSHDGDLGFEKGEQLRILEQSGEWWKAQSLTTGQEGFIPFNFVAKAN
SLEPEPWFFKNLSRKDAERQLLAPGNTHGSFLIRESESTAGSFSLSVRDFDQNQGEVVKH
YKIRNLDNGGFYISPRITFPGLHELVRHYTNASDGLCTRLSRPCQTQKPQKPWWEDEWEV
PRETLKLVERLGAGQFGEVWMGYYNGHTKVAVKSLKQGSMSPDAFLAEANLMKQLQHQRL
VRLYAVVTQEPIYIITEYMENGSLVDFLKTPSGIKLTINKLLDMAAQIAEGMAFIEERNY
IHRDLRAANILVSDTLSCKIADFGLARLIEDNEYTAREGAKFPIKWTAPEAINYGTFTIK
SDVWSFGILLTEIVTHGRIPYPGMTNPEVIQNLERGYRMVRPDNCPEELYQLMRLCWKER
PEDRPTFDYLRSVLEDFFTATEGQYQPQP
NT seq 1530 nt   +upstreamnt  +downstreamnt
atgggctgtggctgcagctcacacccggaagatgactggatggaaaacatcgatgtgtgt
gagaactgccattatcccatagtcccactggatggcaagggcacgctgctcatccgaaat
ggctctgaggtgcgggacccactggttacctacgaaggctccaatccgccggcttcccca
ctgcaagacaacctggttatcgctctgcacagctatgagccctctcacgacggagatctg
ggctttgagaagggggaacagctccgcatcctggagcagagcggcgagtggtggaaggcg
cagtccctgaccacgggccaggaaggcttcatccccttcaattttgtggccaaagcgaac
agcctggagcccgaaccctggttcttcaagaacctgagccgcaaggacgcggagcggcag
ctcctggcgcccgggaacactcacggctccttcctcatccgggagagcgagagcaccgcg
ggatcgttttcactgtcggtccgggacttcgaccagaaccagggagaggtggtgaaacat
tacaagatccgtaatctggacaacggtggcttctacatctcccctcgaatcacttttccc
ggcctgcatgaactggtccgccattacaccaatgcttcagatgggctgtgcacacggttg
agccgcccctgccagacccagaagccccagaagccgtggtgggaggacgagtgggaggtt
cccagggagacgctgaagctggtggagcggctgggggctggacagttcggggaggtgtgg
atggggtactacaacgggcacacgaaggtggcggtgaagagcctgaagcagggcagcatg
tccccggacgccttcctggccgaggccaacctcatgaagcagctgcaacaccagcggctg
gttcggctctacgctgtggtcacccaggagcccatctacatcatcactgaatacatggag
aatgggagtctagtggattttctcaagaccccttcaggcatcaagttgaccatcaacaaa
ctcctggacatggcagcccaaattgcagaaggcatggcattcattgaagagcggaattat
attcatcgtgaccttcgggctgccaacattctggtgtctgacaccctgagctgcaagatt
gcagactttggcctagcacgcctcattgaggacaacgagtacacagccagggagggggcc
aagtttcccattaagtggacagcgccagaagccattaactacgggacattcaccatcaag
tcagatgtgtggtcttttgggatcctgctgacggaaattgtcacccacggccgcatccct
tacccagggatgaccaacccggaggtgattcagaacctggagcgaggctaccgcatggtg
cgccctgacaactgtccagaggagctgtaccaactcatgaggctgtgctggaaggagcgc
ccagaggaccggcccacctttgactacctgcgcagtgtgctggaggacttcttcacggcc
acagagggccagtaccagcctcagccttga

KEGG   Homo sapiens (human): 3635
Entry
3635              CDS       T01001                                 
Symbol
INPP5D, SHIP, SHIP-1, SHIP1, SIP-145, hp51CN, p150Ship
Name
(RefSeq) inositol polyphosphate-5-phosphatase D
  KO
K03084  phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase 1 [EC:3.1.3.86]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00562  Inositol phosphate metabolism
hsa01100  Metabolic pathways
hsa04070  Phosphatidylinositol signaling system
hsa04517  IgSF CAM signaling
hsa04662  B cell receptor signaling pathway
hsa04664  Fc epsilon RI signaling pathway
hsa04666  Fc gamma R-mediated phagocytosis
Network
nt06546  IgSF CAM signaling
  Element
N01967  SLAMF interactions
Drug target
Rosiptor (DG02961): D11275 D11276
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00562 Inositol phosphate metabolism
    3635 (INPP5D)
 09130 Environmental Information Processing
  09132 Signal transduction
   04070 Phosphatidylinositol signaling system
    3635 (INPP5D)
  09133 Signaling molecules and interaction
   04517 IgSF CAM signaling
    3635 (INPP5D)
 09150 Organismal Systems
  09151 Immune system
   04662 B cell receptor signaling pathway
    3635 (INPP5D)
   04664 Fc epsilon RI signaling pathway
    3635 (INPP5D)
   04666 Fc gamma R-mediated phagocytosis
    3635 (INPP5D)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    3635 (INPP5D)
   03036 Chromosome and associated proteins [BR:hsa03036]
    3635 (INPP5D)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.1  Acting on ester bonds
   3.1.3  Phosphoric-monoester hydrolases
    3.1.3.86  phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase
     3635 (INPP5D)
Membrane trafficking [BR:hsa04131]
 Endocytosis
  Rab GTPases and associated proteins
   Rab associated proteins
    3635 (INPP5D)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   HDAC complexes
    SHIP complex
     3635 (INPP5D)
SSDB
Motif
Pfam: Exo_endo_phos2 C2_SHIP1-2_2nd C2_SHIP1-2_first SH2 DUF7063
Other DBs
NCBI-GeneID: 3635
NCBI-ProteinID: NP_001017915
OMIM: 601582
HGNC: 6079
Ensembl: ENSG00000168918
UniProt: Q92835
Structure
LinkDB
Position
2:233060342..233207903
AA seq 1189 aa
MVPCWNHGNITRSKAEELLSRTGKDGSFLVRASESISRAYALCVLYRNCVYTYRILPNED
DKFTVQASEGVSMRFFTKLDQLIEFYKKENMGLVTHLQYPVPLEEEDTGDDPEEDTVESV
VSPPELPPRNIPLTASSCEAKEVPFSNENPRATETSRPSLSETLFQRLQSMDTSGLPEEH
LKAIQDYLSTQLAQDSEFVKTGSSSLPHLKKLTTLLCKELYGEVIRTLPSLESLQRLFDQ
QLSPGLRPRPQVPGEANPINMVSKLSQLTSLLSSIEDKVKALLHEGPESPHRPSLIPPVT
FEVKAESLGIPQKMQLKVDVESGKLIIKKSKDGSEDKFYSHKKILQLIKSQKFLNKLVIL
VETEKEKILRKEYVFADSKKREGFCQLLQQMKNKHSEQPEPDMITIFIGTWNMGNAPPPK
KITSWFLSKGQGKTRDDSADYIPHDIYVIGTQEDPLSEKEWLEILKHSLQEITSVTFKTV
AIHTLWNIRIVVLAKPEHENRISHICTDNVKTGIANTLGNKGAVGVSFMFNGTSLGFVNS
HLTSGSEKKLRRNQNYMNILRFLALGDKKLSPFNITHRFTHLFWFGDLNYRVDLPTWEAE
TIIQKIKQQQYADLLSHDQLLTERREQKVFLHFEEEEITFAPTYRFERLTRDKYAYTKQK
ATGMKYNLPSWCDRVLWKSYPLVHVVCQSYGSTSDIMTSDHSPVFATFEAGVTSQFVSKN
GPGTVDSQGQIEFLRCYATLKTKSQTKFYLEFHSSCLESFVKSQEGENEEGSEGELVVKF
GETLPKLKPIISDPEYLLDQHILISIKSSDSDESYGEGCIALRLEATETQLPIYTPLTHH
GELTGHFQGEIKLQTSQGKTREKLYDFVKTERDESSGPKTLKSLTSHDPMKQWEVTSRAP
PCSGSSITEIINPNYMGVGPFGPPMPLHVKQTLSPDQQPTAWSYDQPPKDSPLGPCRGES
PPTPPGQPPISPKKFLPSTANRGLPPRTQESRPSDLGKNAGDTLPQEDLPLTKPEMFENP
LYGSLSSFPKPAPRKDQESPKMPRKEPPPCPEPGILSPSIVLTKAQEADRGEGPGKQVPA
PRLRSFTCSSSAEGRAAGGDKSQGKPKTPVSSQAPVPAKRPIKPSRSEINQQTPPTPTPR
PPLPVKSPAVLHLQHSKGRDYRDNTELPHHGKHRPEEGPPGPLGRTAMQ
NT seq 3570 nt   +upstreamnt  +downstreamnt
atggtcccctgctggaaccatggcaacatcacccgctccaaggcggaggagctgctttcc
aggacaggcaaggacgggagcttcctcgtgcgtgccagcgagtccatctcccgggcatac
gcgctctgcgtgctgtatcggaattgcgtttacacttacagaattctgcccaatgaagat
gataaattcactgttcaggcatccgaaggcgtctccatgaggttcttcaccaagctggac
cagctcatcgagttttacaagaaggaaaacatggggctggtgacccatctgcaataccct
gtgccgctggaggaagaggacacaggcgacgaccctgaggaggacacagtagaaagtgtc
gtgtctccacccgagctgcccccaagaaacatcccgctgactgccagctcctgtgaggcc
aaggaggttcctttttcaaacgagaatccccgagcgaccgagaccagccggccgagcctc
tccgagacattgttccagcgactgcaaagcatggacaccagtgggcttccagaagagcat
cttaaggccatccaagattatttaagcactcagctcgcccaggactctgaatttgtgaag
acagggtccagcagtcttcctcacctgaagaaactgaccacactgctctgcaaggagctc
tatggagaagtcatccggaccctcccatccctggagtctctgcagaggttatttgaccag
cagctctccccgggcctccgtccacgtcctcaggttcctggtgaggccaatcccatcaac
atggtgtccaagctcagccaactgacaagcctgttgtcgtccattgaagacaaggtcaag
gccttgctgcacgagggtcctgagtctccgcaccggccctcccttatccctccagtcacc
tttgaggtgaaggcagagtctctggggattcctcagaaaatgcagctcaaagtcgacgtt
gagtctgggaaactgatcattaagaagtccaaggatggttctgaggacaagttctacagc
cacaagaaaatcctgcagctcattaagtcacagaaatttctgaataagttggtgatcttg
gtggaaacagagaaggagaagatcctgcggaaggaatatgtttttgctgactccaaaaag
agagaaggcttctgccagctcctgcagcagatgaagaacaagcactcagagcagccggag
cccgacatgatcaccatcttcatcggcacctggaacatgggtaacgccccccctcccaag
aagatcacgtcctggtttctctccaaggggcagggaaagacgcgggacgactctgcggac
tacatcccccatgacatttacgtgatcggcacccaagaggaccccctgagtgagaaggag
tggctggagatcctcaaacactccctgcaagaaatcaccagtgtgacttttaaaacagtc
gccatccacacgctctggaacatccgcatcgtggtgctggccaagcctgagcacgagaac
cggatcagccacatctgtactgacaacgtgaagacaggcattgcaaacacactggggaac
aagggagccgtgggggtgtcgttcatgttcaatggaacctccttagggttcgtcaacagc
cacttgacttcaggaagtgaaaagaaactcaggcgaaaccaaaactatatgaacattctc
cggttcctggccctgggcgacaagaagctgagtccctttaacatcactcaccgcttcacg
cacctcttctggtttggggatcttaactaccgtgtggatctgcctacctgggaggcagaa
accatcatccagaaaatcaagcagcagcagtacgcagacctcctgtcccacgaccagctg
ctcacagagaggagggagcagaaggtcttcctacacttcgaggaggaagaaatcacgttt
gccccaacctaccgttttgagagactgactcgggacaaatacgcctacaccaagcagaaa
gcgacagggatgaagtacaacttgccttcctggtgtgaccgagtcctctggaagtcttat
cccctggtgcacgtggtgtgtcagtcttatggcagtaccagcgacatcatgacgagtgac
cacagccctgtctttgccacatttgaggcaggagtcacttcccagtttgtctccaagaac
ggtcccgggactgttgacagccaaggacagattgagtttctcaggtgctatgccacattg
aagaccaagtcccagaccaaattctacctggagttccactcgagctgcttggagagtttt
gtcaagagtcaggaaggagaaaatgaagaaggaagtgagggggagctggtggtgaagttt
ggtgagactcttccaaagctgaagcccattatctctgaccctgagtacctgctagaccag
cacatcctcatcagcatcaagtcctctgacagcgacgaatcctatggcgagggctgcatt
gcccttcggttagaggccacagaaacgcagctgcccatctacacgcctctcacccaccat
ggggagttgacaggccacttccagggggagatcaagctgcagacctctcagggcaagacg
agggagaagctctatgactttgtgaagacggagcgtgatgaatccagtgggccaaagacc
ctgaagagcctcaccagccacgaccccatgaagcagtgggaagtcactagcagggcccct
ccgtgcagtggctccagcatcactgaaatcatcaaccccaactacatgggagtggggccc
tttgggccaccaatgcccctgcacgtgaagcagaccttgtcccctgaccagcagcccaca
gcctggagctacgaccagccgcccaaggactccccgctggggccctgcaggggagaaagt
cctccgacacctcccggccagccgcccatatcacccaagaagtttttaccctcaacagca
aaccggggtctccctcccaggacacaggagtcaaggcccagtgacctggggaagaacgca
ggggacacgctgcctcaggaggacctgccgctgacgaagcccgagatgtttgagaacccc
ctgtatgggtccctgagttccttccctaagcctgctcccaggaaggaccaggaatccccc
aaaatgccgcggaaggaacccccgccctgcccggaacccggcatcttgtcgcccagcatc
gtgctcaccaaagcccaggaggctgatcgcggcgaggggcccggcaagcaggtgcccgcg
ccccggctgcgctccttcacgtgctcatcctctgccgagggcagggcggccggcggggac
aagagccaagggaagcccaagaccccggtcagctcccaggccccggtgccggccaagagg
cccatcaagccttccagatcggaaatcaaccagcagaccccgcccaccccgacgccgcgg
ccgccgctgccagtcaagagcccggcggtgctgcacctccagcactccaagggccgcgac
taccgcgacaacaccgagctcccgcatcacggcaagcaccggccggaggaggggccacca
gggcctctaggcaggactgccatgcagtga

KEGG   Homo sapiens (human): 3636
Entry
3636              CDS       T01001                                 
Symbol
INPPL1, OPSMD, SHIP2
Name
(RefSeq) inositol polyphosphate phosphatase like 1
  KO
K15909  phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase 2 [EC:3.1.3.86]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00562  Inositol phosphate metabolism
hsa01100  Metabolic pathways
hsa04070  Phosphatidylinositol signaling system
hsa04662  B cell receptor signaling pathway
hsa04666  Fc gamma R-mediated phagocytosis
hsa04910  Insulin signaling pathway
Network
nt06546  IgSF CAM signaling
  Element
N01967  SLAMF interactions
Disease
H01828  Opsismodysplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00562 Inositol phosphate metabolism
    3636 (INPPL1)
 09130 Environmental Information Processing
  09132 Signal transduction
   04070 Phosphatidylinositol signaling system
    3636 (INPPL1)
 09150 Organismal Systems
  09151 Immune system
   04662 B cell receptor signaling pathway
    3636 (INPPL1)
   04666 Fc gamma R-mediated phagocytosis
    3636 (INPPL1)
  09152 Endocrine system
   04910 Insulin signaling pathway
    3636 (INPPL1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    3636 (INPPL1)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.1  Acting on ester bonds
   3.1.3  Phosphoric-monoester hydrolases
    3.1.3.86  phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase
     3636 (INPPL1)
Membrane trafficking [BR:hsa04131]
 Endocytosis
  Clathrin-mediated endocytosis
   Inositol 5-phosphatases
    3636 (INPPL1)
SSDB
Motif
Pfam: Exo_endo_phos2 C2_SHIP1-2_2nd C2_SHIP1-2_first SH2 SAM_1 SAM_2 SAM_TNK
Other DBs
NCBI-GeneID: 3636
NCBI-ProteinID: NP_001558
OMIM: 600829
HGNC: 6080
Ensembl: ENSG00000165458
UniProt: O15357
Structure
LinkDB
Position
11:72223563..72239147
AA seq 1258 aa
MASACGAPGPGGALGSQAPSWYHRDLSRAAAEELLARAGRDGSFLVRDSESVAGAFALCV
LYQKHVHTYRILPDGEDFLAVQTSQGVPVRRFQTLGELIGLYAQPNQGLVCALLLPVEGE
REPDPPDDRDASDGEDEKPPLPPRSGSTSISAPTGPSSPLPAPETPTAPAAESAPNGLST
VSHDYLKGSYGLDLEAVRGGASHLPHLTRTLATSCRRLHSEVDKVLSGLEILSKVFDQQS
SPMVTRLLQQQNLPQTGEQELESLVLKLSVLKDFLSGIQKKALKALQDMSSTAPPAPQPS
TRKAKTIPVQAFEVKLDVTLGDLTKIGKSQKFTLSVDVEGGRLVLLRRQRDSQEDWTTFT
HDRIRQLIKSQRVQNKLGVVFEKEKDRTQRKDFIFVSARKREAFCQLLQLMKNKHSKQDE
PDMISVFIGTWNMGSVPPPKNVTSWFTSKGLGKTLDEVTVTIPHDIYVFGTQENSVGDRE
WLDLLRGGLKELTDLDYRPIAMQSLWNIKVAVLVKPEHENRISHVSTSSVKTGIANTLGN
KGAVGVSFMFNGTSFGFVNCHLTSGNEKTARRNQNYLDILRLLSLGDRQLNAFDISLRFT
HLFWFGDLNYRLDMDIQEILNYISRKEFEPLLRVDQLNLEREKHKVFLRFSEEEISFPPT
YRYERGSRDTYAWHKQKPTGVRTNVPSWCDRILWKSYPETHIICNSYGCTDDIVTSDHSP
VFGTFEVGVTSQFISKKGLSKTSDQAYIEFESIEAIVKTASRTKFFIEFYSTCLEEYKKS
FENDAQSSDNINFLKVQWSSRQLPTLKPILADIEYLQDQHLLLTVKSMDGYESYGECVVA
LKSMIGSTAQQFLTFLSHRGEETGNIRGSMKVRVPTERLGTRERLYEWISIDKDEAGAKS
KAPSVSRGSQEPRSGSRKPAFTEASCPLSRLFEEPEKPPPTGRPPAPPRAAPREEPLTPR
LKPEGAPEPEGVAAPPPKNSFNNPAYYVLEGVPHQLLPPEPPSPARAPVPSATKNKVAIT
VPAPQLGHHRHPRVGEGSSSDEESGGTLPPPDFPPPPLPDSAIFLPPSLDPLPGPVVRGR
GGAEARGPPPPKAHPRPPLPPGPSPASTFLGEVASGDDRSCSVLQMAKTLSEVDYAPAGP
ARSALLPGPLELQPPRGLPSDYGRPLSFPPPRIRESIQEDLAEEAPCLQGGRASGLGEAG
MSAWLRAIGLERYEEGLVHNGWDDLEFLSDITEEDLEEAGVQDPAHKRLLLDTLQLSK
NT seq 3777 nt   +upstreamnt  +downstreamnt
atggcctcggcctgcggggcgccgggcccggggggcgccctgggcagccaggccccctcc
tggtaccaccgcgacctgagccgggcggccgcggaggagctgctggcccgggcgggccgc
gatggcagcttcctggtccgagacagcgagagcgtggcgggggccttcgcgctctgcgtc
ctgtatcagaagcatgtgcacacgtatcgcattctgcctgatggagaagatttcttggct
gtgcagacctcgcagggtgtgcctgtgcgccgcttccagaccctgggtgagctcatcggc
ctgtacgcccagcccaaccagggccttgtgtgcgccctgcttcttcctgtagagggtgag
cgagagccggacccaccggatgaccgggatgcctcagatggggaggatgagaagcccccg
ctgcccccgcgctctggctccaccagcatttctgcccccactgggcccagcagtcccctg
ccagctcctgagactcccacagctccagctgctgagagtgctcccaatgggctgagcacc
gtctcgcacgactacctgaaaggcagctatgggctggacctggaagctgtgaggggtgga
gccagccacctgccccacctcacccgtaccctcgctacctcatgccggaggctgcacagt
gaggtggacaaggtcctgtcaggcctggagatcctgtccaaggtgtttgaccagcagagc
tcgcccatggtgacccgccttttgcagcagcagaacctgccacagacaggggagcaggaa
ctagagagcctggtgctgaagctgtcagtgctaaaggacttcctgtcaggcatccagaag
aaggccctgaaggccctacaggacatgagctccacagcacccccagctccgcagccatcc
acacgtaaggccaagaccatccccgtgcaggcctttgaggtgaagctagatgtgaccctg
ggtgacctgaccaagattgggaagtcacagaagttcacgctgagcgtggatgtggagggt
gggcggctggtgctgctgcggagacagcgggactcccaggaggactggaccaccttcacg
cacgaccgcatccgccagctcattaagtcccagcgtgtccagaacaagctgggtgttgtg
tttgagaaggagaaggaccggactcagcgcaaggacttcatctttgtcagtgcccggaag
cgggaggccttctgccagctgttgcagctcatgaagaacaagcactccaagcaggacgag
cccgacatgatctcagtcttcataggcacctggaacatgggaagtgtaccacctccaaaa
aacgtgacatcctggttcacatcgaagggtctggggaagaccctggacgaggtcacagtg
accataccccatgacatctatgtctttgggacccaggagaactcagtgggcgaccgcgag
tggctggacctactgcgcgggggcctcaaggagcttacggatctggattaccgcccgatt
gccatgcaatcactgtggaatatcaaggtggcagtgctggtcaagccagagcacgagaac
cgtatcagccatgtcagtacgtccagtgtgaagactggcatcgccaacaccctggggaac
aagggggctgtgggcgtctccttcatgtttaatggcacctcatttggctttgtgaattgt
cacctcacctcgggaaatgagaagacggctcggaggaaccaaaactacttggacatcctg
cggctgctctcgctgggcgaccggcagctcaatgcctttgacatctctctgcgtttcaca
cacctcttctggtttggggacctcaactaccgcctggacatggatatccaggagatcctg
aactacatcagcaggaaagagtttgagcccctcctcagggtggaccagctcaacctggag
cgggagaagcacaaggtcttccttcgattcagtgaggaggagatctccttcccacccacc
taccgctatgagcggggttcccgggacacatatgcctggcacaagcagaagccaactggg
gtccggaccaatgtgccctcatggtgtgaccggattctgtggaaatcctaccctgaaact
cacatcatctgcaattcttatggttgcactgatgacatcgtcaccagcgaccattccccc
gtgtttgggacatttgaggttggagttacctcccagttcatctccaagaaagggctctca
aagacttcagaccaggcctacattgagtttgagagcatcgaggccattgtgaagacagcc
agccgcaccaagttcttcatcgagttctactctacctgcctggaggaatacaagaagagc
tttgagaatgatgcccagagcagtgacaacatcaacttcctcaaagtgcagtggtcttca
cgccagctgcccacgctcaaaccaattctggctgatatcgagtacctgcaggaccagcac
ctcctgctcacagtcaagtccatggatggctatgaatcctatggggagtgtgtggttgca
ctcaaatccatgatcggcagcacggcccaacagttcctgaccttcctatcccaccgtggc
gaggagacaggcaatatcagaggctccatgaaggtgcgggtgcccacggagcgcctgggc
acccgtgagcggctctacgagtggatcagcattgataaggatgaggcaggagcaaagagc
aaagccccctctgtgtcccgagggagccaggagcccaggtcagggagccgcaagccagcc
ttcacagaggcctcctgcccgctctccaggttatttgaagaaccagagaaaccgccacca
acggggaggcccccagccccaccccgagcagctccccgggaggagcccttgacccccagg
ttgaagccagagggagctcctgaaccagaaggggtggcggcccccccacccaagaacagc
ttcaataaccctgcctactacgtccttgaaggggtcccgcaccagctgctgcccccggag
ccaccctcgcctgccagggcccctgtcccatctgccaccaagaacaaagtggccattaca
gtgcctgctccacagcttgggcaccaccggcaccctcgtgtgggagaggggagttcttca
gatgaggagtctggaggcacactgccccctccagactttccacctccaccactgccggac
tcagccatcttcctgccccccagcctggatcctttaccagggccagtggtccggggccgt
ggtggggctgaggcccgtggcccaccacctcccaaggcccatccaaggcctccactgccc
ccaggcccctcaccagccagcactttcctgggggaagtggccagtggggatgaccggtcc
tgctcggtgctgcagatggccaagacgctgagcgaggtggactatgcccctgctgggcct
gcacgctcagcgctcctcccaggccccctggagctgcagcccccccggggactgccctcg
gactatggccggcccctcagcttccctccaccccgcatccgggagagcatccaggaagac
ctggcagaggaggctccgtgcctgcagggcgggcgggccagcgggctgggcgaggcaggc
atgagtgcctggctgcgggccatcggcttggagcgctatgaggagggcctggtgcataat
ggctgggacgacctggagtttctcagtgacatcaccgaggaggacttggaggaggctggg
gtgcaggacccggctcacaagcgcctccttctggacaccctgcagctcagcaagtga

KEGG   Homo sapiens (human): 1796
Entry
1796              CDS       T01001                                 
Symbol
DOK1, P62DOK, pp62
Name
(RefSeq) docking protein 1
  KO
K14752  docking protein 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04517  IgSF CAM signaling
Network
nt06546  IgSF CAM signaling
  Element
N01967  SLAMF interactions
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04517 IgSF CAM signaling
    1796 (DOK1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    1796 (DOK1)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 Phosphotyrosine binding (PTB) domain-containing proteins
  IRS related family proteins
   1796 (DOK1)
SSDB
Motif
Pfam: IRS PH
Other DBs
NCBI-GeneID: 1796
NCBI-ProteinID: NP_001372
OMIM: 602919
HGNC: 2990
Ensembl: ENSG00000115325
UniProt: Q99704 B3KP83
Structure
LinkDB
Position
2:74549105..74557551
AA seq 481 aa
MDGAVMEGPLFLQSQRFGTKRWRKTWAVLYPASPHGVARLEFFDHKGSSSGGGRGSSRRL
DCKVIRLAECVSVAPVTVETPPEPGATAFRLDTAQRSHLLAADAPSSAAWVQTLCRNAFP
KGSWTLAPTDNPPKLSALEMLENSLYSPTWEGSQFWVTVQRTEAAERCGLHGSYVLRVEA
ERLTLLTVGAQSQILEPLLSWPYTLLRRYGRDKVMFSFEAGRRCPSGPGTFTFQTAQGND
IFQAVETAIHRQKAQGKAGQGHDVLRADSHEGEVAEGKLPSPPGPQELLDSPPALYAEPL
DSLRIAPCPSQDSLYSDPLDSTSAQAGEGVQRKKPLYWDLYEHAQQQLLKAKLTDPKEDP
IYDEPEGLAPVPPQGLYDLPREPKDAWWCQARVKEEGYELPYNPATDDYAVPPPRSTKPL
LAPKPQGPAFPEPGTATGSGIKSHNSALYSQVQKSGASGSWDCGLSRVGTDKTGVKSEGS
T
NT seq 1446 nt   +upstreamnt  +downstreamnt
atggacggagcagtgatggaagggccgctttttttgcagagtcagcgctttgggaccaag
aggtggaggaagacctgggccgtgctctacccggccagtccccacggcgtagcgcggctc
gagttctttgaccataaggggtcgagctctgggggtggccgagggagctcgcgccgcctg
gactgcaaagtgatccgtctggctgagtgtgtgagtgtggcccccgtcaccgtggagacc
ccccctgagcccggcgccactgccttccgcctggacactgctcagcgctcgcacctgctg
gcggccgacgcgccgtccagtgcagcctgggtgcagacgctgtgccgaaacgcctttccg
aaaggcagctggactctggcgcctaccgataacccacctaagctttctgccctggagatg
ctggagaactccttgtacagccctacctgggaaggatcccaattctgggtaacggtgcag
aggactgaggccgccgagcgctgtggcctgcatggctcctacgtgctgagggtggaggct
gaaaggctgactctcctgaccgtgggggcccagagtcagatactggagccactcctgtcc
tggccctacactctgttgcgtcgctatggccgggacaaggtcatgttctctttcgaggcc
ggccgccgctgcccctcaggccctggaaccttcaccttccagacggcacagggaaatgac
atcttccaggcagttgagactgccatccaccggcagaaggcccagggaaaggccggacag
gggcacgatgttctcagagctgactcccatgaaggggaggtggcagaggggaagttgcct
tccccacctggcccccaagagctcctcgacagtcccccagccctgtatgctgagccctta
gactccctgcgcattgctccatgcccttcccaggactccctatactcagaccccttggac
agcacgtctgctcaggcaggagagggagtacaacggaagaaacctctctattgggacttg
tatgagcatgcgcagcagcagttgctgaaggccaagctgacagaccccaaagaggatccc
atctatgatgaacctgagggcctggccccagtccctccccagggcctttatgatctgcct
cgggagcccaaggatgcatggtggtgccaagctcgggtgaaggaggagggctatgagctc
ccctacaaccctgccactgatgactacgctgtgccaccccctcggagcacaaagcccctc
cttgctcccaagccccagggcccagccttccctgaacctggtactgcaactggcagtggc
atcaaaagccacaactcagccctgtacagccaggtccagaagagcggggcctcagggagc
tgggactgtgggctctctagagtagggactgacaagactggggtcaagtcagagggctct
acctga

KEGG   Homo sapiens (human): 9046
Entry
9046              CDS       T01001                                 
Symbol
DOK2, p56DOK, p56dok-2
Name
(RefSeq) docking protein 2
  KO
K20234  docking protein 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04517  IgSF CAM signaling
Network
nt06546  IgSF CAM signaling
  Element
N01967  SLAMF interactions
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04517 IgSF CAM signaling
    9046 (DOK2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    9046 (DOK2)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 Phosphotyrosine binding (PTB) domain-containing proteins
  IRS related family proteins
   9046 (DOK2)
SSDB
Motif
Pfam: IRS PH
Other DBs
NCBI-GeneID: 9046
NCBI-ProteinID: NP_003965
OMIM: 604997
HGNC: 2991
Ensembl: ENSG00000147443
UniProt: O60496
Structure
LinkDB
Position
8:complement(21908873..21913690)
AA seq 412 aa
MGDGAVKQGFLYLQQQQTFGKKWRRFGASLYGGSDCALARLELQEGPEKPRRCEAARKVI
RLSDCLRVAEAGGEASSPRDTSAFFLETKERLYLLAAPAAERGDWVQAICLLAFPGQRKE
LSGPEGKQSRPCMEENELYSSAVTVGPHKEFAVTMRPTEASERCHLRGSYTLRAGESALE
LWGGPEPGTQLYDWPYRFLRRFGRDKVTFSFEAGRRCVSGEGNFEFETRQGNEIFLALEE
AISAQKNAAPATPQPQPATIPASLPRPDSPYSRPHDSLPPPSPTTPVPAPRPRGQEGEYA
VPFDAVARSLGKNFRGILAVPPQLLADPLYDSIEETLPPRPDHIYDEPEGVAALSLYDSP
QEPRGEAWRRQATADRDPAGLQHVQPAGQDFSASGWQPGTEYDNVVLKKGPK
NT seq 1239 nt   +upstreamnt  +downstreamnt
atgggagacggggcagtgaaacaaggcttcttgtatcttcagcagcagcagacgtttgga
aagaaatggcgccgcttcggcgcctcactgtatggagggtcggactgcgccttggcccgg
ctggagctgcaggagggcccggagaagcctcgtcggtgtgaggctgcccggaaggtcatc
cgcctcagtgactgcctgcgggtggccgaggccggcggagaggccagcagcccccgggac
accagtgccttcttcctggagaccaaggagcgcctgtacctcctggcggcccctgcagcg
gagcgcggcgactgggtgcaggccatctgcctcctggccttccccgggcagaggaaggag
ctctcggggccagagggaaagcagagccggccctgcatggaggaaaatgaattgtacagc
agcgcagtcacagtcggcccccacaaggaatttgctgtgaccatgagacctacagaagcc
agtgagaggtgccacctgcgggggtcctataccctccgggctggggagagtgccctggag
ctgtggggtgggcccgagccagggacccagctgtacgactggccctacaggtttctgcgg
cgctttgggcgggacaaggtaaccttttcctttgaggcaggccgtcgctgcgtctctgga
gagggcaactttgagttcgaaacccggcaaggcaatgagatcttcttggccctggaagag
gccatctctgcccagaagaatgctgcacccgctacaccccaaccgcagccagccacaatc
cccgcgtcgctgccccggcctgatagcccctactctcggccgcatgactcactgccgccg
ccttcacccaccacaccggtgcctgctccacggcctcggggccaggagggggagtatgcc
gtgcccttcgatgcggtggcccgttccttggggaagaacttcaggggcatcttggcagtc
cctcctcagctcctggccgaccctctgtacgacagcattgaggagaccctgccccctcga
cctgaccacatatacgatgagcccgagggagtggctgccctgtccctctatgacagcccg
caggagccccggggtgaggcatggaggaggcaggcgacagctgacagggaccctgctggc
ctccagcatgtccagccagccgggcaggatttctctgcttctggctggcagccaggaact
gagtatgacaatgttgtactaaagaaaggcccaaagtga

KEGG   Homo sapiens (human): 5921
Entry
5921              CDS       T01001                                 
Symbol
RASA1, CM-AVM, CMAVM, CMAVM1, GAP, PKWS, RASA, RASGAP, p120, p120GAP, p120RASGAP
Name
(RefSeq) RAS p21 protein activator 1
  KO
K04352  Ras GTPase-activating protein 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04014  Ras signaling pathway
hsa04360  Axon guidance
hsa04517  IgSF CAM signaling
Network
nt06526  MAPK signaling
nt06546  IgSF CAM signaling
  Element
N01600  Regulation of GF-RTK-RAS-ERK signaling, RasGAP
N01967  SLAMF interactions
Disease
H00039  Basal cell carcinoma
H00532  Parkes Weber syndrome
H02043  Capillary malformation-arteriovenous malformation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    5921 (RASA1)
   04014 Ras signaling pathway
    5921 (RASA1)
  09133 Signaling molecules and interaction
   04517 IgSF CAM signaling
    5921 (RASA1)
 09150 Organismal Systems
  09158 Development and regeneration
   04360 Axon guidance
    5921 (RASA1)
SSDB
Motif
Pfam: SH2 RasGAP PH C2 SH3_1 SH3_9 SH2_2 PH_11 SH3_2 DUF7656
Other DBs
NCBI-GeneID: 5921
NCBI-ProteinID: NP_002881
OMIM: 139150
HGNC: 9871
Ensembl: ENSG00000145715
UniProt: P20936 Q59GK3
Structure
LinkDB
Position
5:87267883..87391916
AA seq 1047 aa
MMAAEAGSEEGGPVTAGAGGGGAAAGSSAYPAVCRVKIPAALPVAAAPYPGLVETGVAGT
LGGGAALGSEFLGAGSVAGALGGAGLTGGGTAAGVAGAAAGVAGAAVAGPSGDMALTKLP
TSLLAETLGPGGGFPPLPPPPYLPPLGAGLGTVDEGDSLDGPEYEEEEVAIPLTAPPTNQ
WYHGKLDRTIAEERLRQAGKSGSYLIRESDRRPGSFVLSFLSQMNVVNHFRIIAMCGDYY
IGGRRFSSLSDLIGYYSHVSCLLKGEKLLYPVAPPEPVEDRRRVRAILPYTKVPDTDEIS
FLKGDMFIVHNELEDGWMWVTNLRTDEQGLIVEDLVEEVGREEDPHEGKIWFHGKISKQE
AYNLLMTVGQVCSFLVRPSDNTPGDYSLYFRTNENIQRFKICPTPNNQFMMGGRYYNSIG
DIIDHYRKEQIVEGYYLKEPVPMQDQEQVLNDTVDGKEIYNTIRRKTKDAFYKNIVKKGY
LLKKGKGKRWKNLYFILEGSDAQLIYFESEKRATKPKGLIDLSVCSVYVVHDSLFGRPNC
FQIVVQHFSEEHYIFYFAGETPEQAEDWMKGLQAFCNLRKSSPGTSNKRLRQVSSLVLHI
EEAHKLPVKHFTNPYCNIYLNSVQVAKTHAREGQNPVWSEEFVFDDLPPDINRFEITLSN
KTKKSKDPDILFMRCQLSRLQKGHATDEWFLLSSHIPLKGIEPGSLRVRARYSMEKIMPE
EEYSEFKELILQKELHVVYALSHVCGQDRTLLASILLRIFLHEKLESLLLCTLNDREISM
EDEATTLFRATTLASTLMEQYMKATATQFVHHALKDSILKIMESKQSCELSPSKLEKNED
VNTNLTHLLNILSELVEKIFMASEILPPTLRYIYGCLQKSVQHKWPTNTTMRTRVVSGFV
FLRLICPAILNPRMFNIISDSPSPIAARTLILVAKSVQNLANLVEFGAKEPYMEGVNPFI
KSNKHRMIMFLDELGNVPELPDTTEHSRTDLSRDLAALHEICVAHSDELRTLSNERGAQQ
HVLKKLLAITELLQQKQNQYTKTNDVR
NT seq 3144 nt   +upstreamnt  +downstreamnt
atgatggcggccgaggccggcagtgaggagggcggcccggtaacagccggagctggagga
ggcggcgcggcagcgggctccagtgcctatcccgcagtgtgtcgggtgaagatacccgcg
gccctgcctgtggcagccgccccctatcctgggctggtggagaccggagtggctggaact
ctgggtggcggagccgctttggggtcagagttcctaggagccgggtctgtggcaggggca
ctggggggagctggactgacagggggaggtactgctgctggcgtagctggtgctgctgct
ggcgtggccggtgctgctgttgctggacctagtggagacatggctctcaccaaactgccc
acttcgttgcttgctgagactctcgggccaggcggcggttttccccctctgccccctccc
ccttacctgccccctttgggggcgggcctcgggacagtggacgaaggtgactctctggat
ggaccagaatacgaggaggaagaggtggccataccgttgaccgctcctccaactaaccag
tggtatcacggaaaacttgacagaacgatagcagaagaacgcctcaggcaggcagggaag
tctggcagttatcttataagagagagtgatcggaggccagggtcctttgtactttcattt
cttagccagatgaatgttgtcaaccattttaggattattgctatgtgtggagattactac
attggtggaagacgtttttcttcactgtcagacctaataggttattacagtcatgtttct
tgtttgcttaaaggagaaaaattactttacccagttgcaccaccagagccagtagaagat
agaaggcgtgtacgagctattctaccttacacaaaagtaccagacactgatgaaataagt
ttcttaaaaggagatatgttcattgttcataatgaattagaagatggatggatgtgggtt
acaaatttaagaacagatgaacaaggccttattgttgaagacctagtagaagaggtgggc
cgggaagaagatccacatgaaggaaaaatatggttccatgggaagatttccaaacaggaa
gcttataatttactaatgacagttggtcaagtctgcagttttcttgtgaggccctcagat
aatactcctggcgattattcactttatttccggaccaatgaaaatattcagcgatttaaa
atatgtccaacgccaaacaatcagtttatgatgggaggccggtattataacagcattggg
gacatcatagatcactatcgaaaagaacagattgttgaaggatattatcttaaggaacct
gtaccaatgcaggatcaagaacaagtactcaatgacacagtggatggcaaggaaatctat
aataccatccgtcgtaaaacaaaggatgccttttataaaaacattgttaagaaaggttat
cttctgaaaaagggcaaaggaaaacgttggaaaaatttatattttatcttagagggtagt
gatgcccaacttatttattttgaaagcgaaaaacgagctaccaaaccaaaaggattaata
gatctcagtgtatgttctgtctatgtcgttcatgatagtctctttggcaggccaaactgt
tttcagatagtagttcagcactttagtgaagaacattacatcttttactttgcaggagaa
actccagaacaagcagaggattggatgaaaggtctgcaggcattttgcaatttacggaaa
agtagtccagggacatccaataaacgccttcgtcaggtcagcagccttgttttacatatt
gaagaagcccataaactcccagtaaaacattttactaatccatattgtaacatctacctg
aatagtgtccaagtagcaaaaactcatgcaagggaagggcaaaacccagtatggtcagaa
gagtttgtctttgatgatcttcctcctgacatcaatagatttgaaataactcttagtaat
aaaacaaagaaaagcaaagatcctgatatcttatttatgcgctgccagttgagccgatta
cagaaagggcatgccacagatgaatggtttctgctcagctcccatataccattaaaaggt
attgaaccagggtccctgcgtgttcgagcacgatactctatggaaaaaatcatgccagaa
gaagagtacagtgaatttaaagagcttatactgcaaaaggaacttcatgtagtctatgct
ttatcacatgtatgtggacaagaccgaacactactggccagcatcctactgaggattttt
cttcacgaaaagcttgaatcgttgttgttatgcacactaaatgacagagaaataagcatg
gaagatgaagccactaccctatttcgagccacaacacttgcaagcaccttgatggagcag
tatatgaaagccactgctacacagtttgttcatcatgctttgaaagactctattttaaag
ataatggaaagcaagcagtcttgtgagttaagtccatcaaagttagaaaaaaatgaagat
gtgaacactaatttaacacacctattgaacatactttcagagcttgtggagaaaatattc
atggcttcagaaatacttccaccgacattgagatatatttatgggtgtttacagaaatct
gttcagcataagtggcctacaaataccaccatgagaacaagagttgttagtggttttgtt
tttcttcgactcatctgtcctgccatcctgaatccacggatgttcaatatcatctcagat
tctccatctcctattgctgcaagaacactgatattagtggctaaatctgtgcagaactta
gcaaatcttgtggaatttggagctaaggagccctacatggaaggtgtcaatccattcatc
aaaagcaacaaacatcgtatgatcatgtttttagatgaacttgggaatgtacctgaactt
ccggacactacagagcattctagaacggacctgtcccgtgatttagcagcattgcatgag
atttgcgtggctcattcagatgaacttcgaacgctcagtaatgagcgtggtgcacagcag
cacgtattgaaaaagcttctggctataacagaactgcttcaacaaaaacaaaaccagtat
acaaaaaccaatgatgtcaggtag

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