KEGG   Homo sapiens (human): 342035
Entry
342035            CDS       T01001                                 
Symbol
GLDN, CLOM, COLM, CRG-L2, CRGL2, LCCS11, UNC-112, UNC-122
Name
(RefSeq) gliomedin
  KO
K16364  gliomedin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04517  IgSF CAM signaling
Network
nt06546  IgSF CAM signaling
  Element
N01933  NrCAM interactions
N01935  NFASC interactions
Disease
H00865  Lethal congenital contractural syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04517 IgSF CAM signaling
    342035 (GLDN)
SSDB
Motif
Pfam: OLF Collagen Beta-prop_IFT80_2nd
Other DBs
NCBI-GeneID: 342035
NCBI-ProteinID: NP_861454
OMIM: 608603
HGNC: 29514
Ensembl: ENSG00000186417
UniProt: Q6ZMI3
Structure
LinkDB
Position
15:51341655..51413365
AA seq 551 aa
MARGAEGGRGDAGWGLRGALAAVALLSALNAAGTVFALCQWRGLSSALRALEAQRGREQR
EDSALRSFLAELSRAPRGASAPPQDPASSARNKRSHSGEPAPHIRAESHDMLMMMTYSMV
PIRVMVDLCNSTKGICLTGPSGPPGPPGAGGLPGHNGLDGQPGPQGPKGEKGANGKRGKM
GIPGAAGNPGERGEKGDHGELGLQGNEGPPGQKGEKGDKGDVSNDVLLAGAKGDQGPPGP
PGPPGPPGPPGPPGSRRAKGPRQPSMFNGQCPGETCAIPNDDTLVGKADEKASEHHSPQA
ESMITSIGNPVQVLKVTETFGTWIRESANKSDDRIWVTEHFSGIMVKEFKDQPSLLNGSY
TFIHLPYYFHGCGHVVYNNSLYYHKGGSNTLVRFEFGQETSQTLKLENALYFDRKYLFAN
SKTYFNLAVDEKGLWIIYASSVDGSSILVAQLDERTFSVVQHVNTTYPKSKAGNAFIARG
ILYVTDTKDMRVTFAFDLLGGKQINANFDLRTSQSVLAMLAYNMRDQHLYSWEDGHLMLY
PVQFLSTTLNQ
NT seq 1656 nt   +upstreamnt  +downstreamnt
atggcccgaggcgctgagggaggccgtggggacgcgggttggggcctgcgtggcgccctg
gcggccgtggcgctgctctcggcgctcaacgctgcgggcacggtgttcgcgctgtgccag
tggcgcgggctgagctcggcgctgcgggctttggaggcgcagcggggccgggagcagcgc
gaggacagtgccctgcgctccttcctggccgagttgagccgcgcgccgcgcggggcgtcc
gcaccaccccaagacccggccagctcagctcgcaacaagcgcagccacagcggcgagccc
gcgccgcatatccgcgccgagagccatgacatgctgatgatgatgacctactccatggtg
ccgatccgagtgatggtggacctgtgcaacagcaccaagggcatctgcctcacaggacct
tctggaccaccaggacctccgggagccggcgggttgccaggacacaacggattggatgga
cagcctggtcctcagggcccaaaaggagaaaaaggagcaaatggaaaaagaggaaaaatg
gggatacctggagctgcaggaaatccaggggaaaggggagaaaagggagaccatggtgaa
ctgggcctgcagggaaatgagggcccaccagggcagaagggagaaaagggtgacaaagga
gatgtgtccaacgacgtgctcctggcaggtgccaaaggtgaccaaggcccacccggtcca
cctgggcccccaggccctccaggtcctccagggccccctggaagcagaagagccaaaggc
cctcggcagccaagcatgttcaacggccagtgcccaggtgagacttgtgccataccaaat
gatgataccttggttggaaaagctgatgagaaagccagtgaacaccattccccacaagca
gaatccatgatcacttccattggaaacccagtgcaagtactgaaagtgacagagacattt
gggacttggataagagagtctgctaacaagagtgatgaccggatttgggtgacagagcat
ttttcaggcatcatggttaaggaattcaaggatcagccctcacttctgaatggcagttac
acgttcatccaccttccatactatttccatggctgtgggcacgttgtttacaacaactct
ctctactaccacaaagggggttctaataccctagtgagatttgaatttggccaggaaaca
tcccaaactctgaagcttgaaaatgccttgtattttgatcgaaaatacctttttgcaaat
tccaaaacttacttcaatctagctgtagatgaaaagggcctttggattatctatgcgtca
agtgtggacggctcgagcattcttgtagcacaactggatgagaggacattctcagtggtg
caacacgtcaataccacgtaccctaaatccaaggctggcaacgccttcattgcccgagga
atcctctatgtcacagacaccaaagatatgagggtcacatttgcctttgatttgttagga
gggaaacagatcaatgcaaactttgatttaagaacttcccagtctgttcttgccatgtta
gcatacaacatgagagatcagcatttatattcatgggaagatggccatttaatgctttat
cctgtgcagtttttgtcaactaccttaaatcagtga

KEGG   Homo sapiens (human): 4897
Entry
4897              CDS       T01001                                 
Symbol
NRCAM, NEDNMS
Name
(RefSeq) neuronal cell adhesion molecule
  KO
K06756  neuronal cell adhesion molecule
Organism
hsa  Homo sapiens (human)
Pathway
hsa04514  Cell adhesion molecules
hsa04517  IgSF CAM signaling
Network
nt06546  IgSF CAM signaling
  Element
N01933  NrCAM interactions
N01935  NFASC interactions
N01936  CNTN1 interactions
N01937  CNTN2 interactions
Disease
H02397  Neurodevelopmental disorder with movement abnormalities or hypotonia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04514 Cell adhesion molecules
    4897 (NRCAM)
   04517 IgSF CAM signaling
    4897 (NRCAM)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04515 Cell adhesion molecules [BR:hsa04515]
    4897 (NRCAM)
Cell adhesion molecules [BR:hsa04515]
 Immunoglobulin superfamily
  L1 family
   4897 (NRCAM)
SSDB
Motif
Pfam: Ig_3 I-set fn3 ig Ig_2 Bravo_FIGEY Ig_DSCAM-DSCAML_C Pur_ac_phosph_N Ig_5 Ig_C17orf99 C2-set_2 V-set V-set_CD47 Ig_4 fn3_2 INCA1
Other DBs
NCBI-GeneID: 4897
NCBI-ProteinID: NP_001032209
OMIM: 601581
HGNC: 7994
Ensembl: ENSG00000091129
UniProt: Q92823 Q14CA1
Structure
LinkDB
Position
7:complement(108147649..108456720)
AA seq 1304 aa
MQLKIMPKKKRLSAGRVPLILFLCQMISALEVPLDPKLLEDLVQPPTITQQSPKDYIIDP
RENIVIQCEAKGKPPPSFSWTRNGTHFDIDKDPLVTMKPGTGTLIINIMSEGKAETYEGV
YQCTARNERGAAVSNNIVVRPSRSPLWTKEKLEPITLQSGQSLVLPCRPPIGLPPPIIFW
MDNSFQRLPQSERVSQGLNGDLYFSNVLPEDTREDYICYARFNHTQTIQQKQPISVKVIS
VDELNDTIAANLSDTEFYGAKSSRERPPTFLTPEGNASNKEELRGNVLSLECIAEGLPTP
IIYWAKEDGMLPKNRTVYKNFEKTLQIIHVSEADSGNYQCIAKNALGAIHHTISVRVKAA
PYWITAPQNLVLSPGEDGTLICRANGNPKPRISWLTNGVPIEIAPDDPSRKIDGDTIIFS
NVQERSSAVYQCNASNEYGYLLANAFVNVLAEPPRILTPANTLYQVIANRPALLDCAFFG
SPLPTIEWFKGAKGSALHEDIYVLHENGTLEIPVAQKDSTGTYTCVARNKLGMAKNEVHL
EIKDPTWIVKQPEYAVVQRGSMVSFECKVKHDHTLSLTVLWLKDNRELPSDERFTVDKDH
LVVADVSDDDSGTYTCVANTTLDSVSASAVLSVVAPTPTPAPVYDVPNPPFDLELTDQLD
KSVQLSWTPGDDNNSPITKFIIEYEDAMHKPGLWHHQTEVSGTQTTAQLKLSPYVNYSFR
VMAVNSIGKSLPSEASEQYLTKASEPDKNPTAVEGLGSEPDNLVITWKPLNGFESNGPGL
QYKVSWRQKDGDDEWTSVVVANVSKYIVSGTPTFVPYLIKVQALNDMGFAPEPAVVMGHS
GEDLPMVAPGNVRVNVVNSTLAEVHWDPVPLKSIRGHLQGYRIYYWKTQSSSKRNRRHIE
KKILTFQGSKTHGMLPGLEPFSHYTLNVRVVNGKGEGPASPDRVFNTPEGVPSAPSSLKI
VNPTLDSLTLEWDPPSHPNGILTEYTLKYQPINSTHELGPLVDLKIPANKTRWTLKNLNF
STRYKFYFYAQTSAGSGSQITEEAVTTVDEAGILPPDVGAGKVQAVNPRISNLTAAAAET
YANISWEYEGPEHVNFYVEYGVAGSKEEWRKEIVNGSRSFFGLKGLMPGTAYKVRVGAVG
DSGFVSSEDVFETGPAMASRQVDIATQGWFIGLMCAVALLILILLIVCFIRRNKGGKYPV
KEKEDAHADPEIQPMKEDDGTFGEYSDAEDHKPLKKGSRTPSDRTVKKEDSDDSLVDYGE
GVNGQFNEDGSFIGQYSGKKEKEPAEGNESSEAPSPVNAMNSFV
NT seq 3915 nt   +upstreamnt  +downstreamnt
atgcagcttaaaataatgccgaaaaagaagcgcttatctgcgggcagagtgcccctgatt
ctcttcctgtgccagatgattagtgcactggaagtacctcttgatccaaaacttcttgaa
gacttggtacagcctccaaccatcacccaacagtctccaaaagattacattattgaccct
cgggagaatattgtaatccagtgtgaagccaaagggaaaccgcccccaagcttttcctgg
acccgtaatgggactcattttgacatcgataaagaccctctggtcaccatgaagcctggc
acaggaacgctcataattaacatcatgagcgaagggaaagctgagacctatgaaggagtc
tatcagtgtacagcaaggaacgaacgcggagctgcagtttctaataacattgttgtccgc
ccatccagatcaccattgtggaccaaagaaaaacttgaaccaatcacacttcaaagtggt
cagtctttagtacttccctgcagacccccaattggattaccaccacctataatattttgg
atggataattcctttcaaagacttccacaaagtgagagagtttctcaaggtttgaatggg
gacctttatttttccaatgtcctcccagaggacacccgcgaagactatatctgttatgct
agatttaatcatactcaaaccatacagcagaagcaacctatttctgtgaaggtgatttca
gtggatgaattgaatgacactatagctgctaatttgagtgacactgagttttatggtgct
aaatcaagtagagagaggccaccaacatttttaactccagaaggcaatgcaagtaacaaa
gaggaattaagaggaaatgtgctttcactggagtgcattgcagaaggactgcctacccca
attatttactgggcaaaggaagatggaatgctacccaaaaacaggacagtttataagaac
tttgagaaaaccttgcagatcattcatgtttcagaagcagactctggaaattaccaatgt
atagcaaaaaacgcattaggagccatccaccataccatttctgttagagttaaagcggct
ccatactggatcacagcccctcaaaatcttgtgctgtccccaggagaggatgggaccttg
atctgcagagctaatggcaaccccaaacccagaattagctggttaacaaatggagtccca
atagaaattgcccctgatgaccccagcagaaaaatagatggcgataccattattttttca
aatgttcaagaaagatcaagtgcagtctatcagtgcaatgcctctaatgaatatggatat
ttactggcaaacgcatttgtaaatgtgctggctgagccaccacgaatcctcacacctgca
aacacactctaccaggtcattgcaaacaggcctgctttactagactgtgccttctttggg
tctcctctcccaaccatcgagtggtttaaaggagctaaaggaagtgctcttcatgaagat
atttatgttttacatgaaaatggaactttggaaattcctgtggcccaaaaggacagtaca
ggaacttatacgtgtgttgcaaggaataaattagggatggcgaagaatgaagttcactta
gaaatcaaagatcctacatggatcgttaaacagcccgaatatgcagttgtgcaaagaggg
agcatggtgtcctttgaatgcaaagtgaaacatgatcacaccttatccctcactgtcctg
tggctgaaggacaacagggaactgcccagtgatgaaaggttcactgttgacaaggatcat
ctagtggtagctgatgtcagtgacgatgacagcgggacctacacgtgtgtggccaacacc
actctggacagcgtctccgccagcgctgtgcttagcgttgttgctcctactccaactcca
gctcccgtttacgatgtcccaaatcctccctttgacttagaactgacagatcaacttgac
aaaagtgttcagctgtcatggaccccaggcgatgacaacaatagccccattacaaaattc
atcatcgaatatgaagatgcaatgcacaagccagggctgtggcaccaccaaactgaagtt
tctggaacacagaccacagcccagctgaagctgtctccttacgtgaactactccttccgc
gtgatggcagtgaacagcattgggaagagcttgcccagcgaggcgtctgagcagtatttg
acgaaagcctcagaaccagataaaaaccccacagctgtggaaggactgggatcagagcct
gataatttggtgattacgtggaagcccttgaatggtttcgaatctaatgggccaggcctt
cagtacaaagttagctggcgccagaaagatggtgatgatgaatggacatctgtggttgtg
gcaaatgtatccaaatatattgtctcaggcacgccaacctttgttccatacctgatcaaa
gttcaggccctgaatgacatggggtttgcccccgagccagctgtagtcatgggacattct
ggagaagacctcccaatggtggctcctgggaacgtgcgtgtgaatgtggtgaacagtacc
ttagccgaggtgcactgggacccagtacctctgaaaagcatccgaggacacctacaaggc
tatcggatttactattggaagacccagagttcatctaaaagaaacagacgtcacattgag
aaaaagatcctcaccttccaaggcagcaagactcatggcatgttgccggggctagagccc
tttagccactacacactgaatgtccgagtggtcaatgggaaaggggagggcccagccagc
cctgacagagtctttaatactccagaaggagtccccagtgctccctcgtctttgaagatt
gtgaatccaacactggactctctcactttggaatgggatccaccgagccacccgaatggc
attttgacagagtacaccttaaagtatcagccaattaacagcacacatgaattaggccct
ctggtagatttgaaaattcctgccaacaagacacggtggactttaaaaaatttaaatttc
agcactcgatataagttttatttctatgcacaaacatcagcaggatcaggaagtcaaatt
acagaggaagcagtaacaactgtggatgaagctggtattcttccacctgatgtaggtgca
ggcaaagttcaagcagtaaatcccaggatcagcaatcttactgctgcagctgctgagacc
tatgccaatatcagttgggaatatgagggaccagagcatgtgaacttttatgttgaatat
ggtgtagcaggcagcaaagaagaatggagaaaagaaattgtaaatggttctcggagcttc
tttgggttaaagggtctaatgccaggaacagcatacaaagttcgagttggtgctgtgggg
gactctggttttgtgagttcagaggatgtgtttgagacaggcccagcgatggcaagccgg
caggtggatattgcaactcagggctggttcattggtctgatgtgtgctgttgctctcctt
atcttaattttgctgattgtttgcttcatcagaagaaacaagggtggtaaatatccagtt
aaagaaaaggaagatgcccatgctgaccctgaaatccagcctatgaaggaagatgatggg
acatttggagaatacagtgatgcagaagaccacaagcctttgaaaaaaggaagtcgaact
ccttcagacaggactgtgaaaaaagaagatagtgacgacagcctagttgactatggagaa
ggggttaatggccagttcaatgaggatggctcctttattggacaatacagtggtaagaaa
gagaaagagccggctgaaggaaacgaaagctcagaggcaccttctcctgtcaacgccatg
aattcctttgtttaa

KEGG   Homo sapiens (human): 1272
Entry
1272              CDS       T01001                                 
Symbol
CNTN1, CMYO12, CMYP12, F3, GP135, MYPCN
Name
(RefSeq) contactin 1
  KO
K06759  contactin 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04514  Cell adhesion molecules
hsa04517  IgSF CAM signaling
Network
nt06546  IgSF CAM signaling
  Element
N01933  NrCAM interactions
N01934  L1CAM interactions
N01935  NFASC interactions
N01936  CNTN1 interactions
Disease
H01810  Congenital myopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04514 Cell adhesion molecules
    1272 (CNTN1)
   04517 IgSF CAM signaling
    1272 (CNTN1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04515 Cell adhesion molecules [BR:hsa04515]
    1272 (CNTN1)
   00537 Glycosylphosphatidylinositol (GPI)-anchored proteins [BR:hsa00537]
    1272 (CNTN1)
Cell adhesion molecules [BR:hsa04515]
 Immunoglobulin superfamily
  Contactins
   1272 (CNTN1)
Glycosylphosphatidylinositol (GPI)-anchored proteins [BR:hsa00537]
 Others
  1272 (CNTN1)
SSDB
Motif
Pfam: Ig_3 I-set ig Ig_2 fn3 V-set Ig_DSCAM-DSCAML_C Ig_5 Pur_ac_phosph_N Sp38 C2-set_2 Interfer-bind
Other DBs
NCBI-GeneID: 1272
NCBI-ProteinID: NP_001834
OMIM: 600016
HGNC: 2171
Ensembl: ENSG00000018236
UniProt: Q12860
Structure
LinkDB
Position
12:40692439..41072415
AA seq 1018 aa
MKMWLLVSHLVIISITTCLAEFTWYRRYGHGVSEEDKGFGPIFEEQPINTIYPEESLEGK
VSLNCRARASPFPVYKWRMNNGDVDLTSDRYSMVGGNLVINNPDKQKDAGIYYCLASNNY
GMVRSTEATLSFGYLDPFPPEERPEVRVKEGKGMVLLCDPPYHFPDDLSYRWLLNEFPVF
ITMDKRRFVSQTNGNLYIANVEASDKGNYSCFVSSPSITKSVFSKFIPLIPIPERTTKPY
PADIVVQFKDVYALMGQNVTLECFALGNPVPDIRWRKVLEPMPSTAEISTSGAVLKIFNI
QLEDEGIYECEAENIRGKDKHQARIYVQAFPEWVEHINDTEVDIGSDLYWPCVATGKPIP
TIRWLKNGYAYHKGELRLYDVTFENAGMYQCIAENTYGAIYANAELKILALAPTFEMNPM
KKKILAAKGGRVIIECKPKAAPKPKFSWSKGTEWLVNSSRILIWEDGSLEINNITRNDGG
IYTCFAENNRGKANSTGTLVITDPTRIILAPINADITVGENATMQCAASFDPALDLTFVW
SFNGYVIDFNKENIHYQRNFMLDSNGELLIRNAQLKHAGRYTCTAQTIVDNSSASADLVV
RGPPGPPGGLRIEDIRATSVALTWSRGSDNHSPISKYTIQTKTILSDDWKDAKTDPPIIE
GNMEAARAVDLIPWMEYEFRVVATNTLGRGEPSIPSNRIKTDGAAPNVAPSDVGGGGGRN
RELTITWAPLSREYHYGNNFGYIVAFKPFDGEEWKKVTVTNPDTGRYVHKDETMSPSTAF
QVKVKAFNNKGDGPYSLVAVINSAQDAPSEAPTEVGVKVLSSSEISVHWEHVLEKIVESY
QIRYWAAHDKEEAANRVQVTSQEYSARLENLLPDTQYFIEVGACNSAGCGPPSDMIEAFT
KKAPPSQPPRIISSVRSGSRYIITWDHVVALSNESTVTGYKVLYRPDGQHDGKLYSTHKH
SIEVPIPRDGEYVVEVRAHSDGGDGVVSQVKISGAPTLSPSLLGLLLPAFGILVYLEF
NT seq 3057 nt   +upstreamnt  +downstreamnt
atgaaaatgtggttgctggtcagtcatcttgtgataatatctattactacctgtttagca
gagtttacatggtatagaagatatggtcatggagtttctgaggaagacaaaggatttgga
ccaatttttgaagagcagccaatcaataccatttatccagaggaatcactggaaggaaaa
gtctcactcaactgtagggcacgagccagccctttcccggtttacaaatggagaatgaat
aatggggacgttgatctcacaagtgatcgatacagtatggtaggaggaaaccttgttatc
aacaaccctgacaaacagaaagatgctggaatatactactgtttagcatctaataactac
gggatggtcagaagcactgaagcaaccctgagctttggatatcttgatcctttcccacct
gaggaacgtcctgaggtcagagtaaaagaagggaaaggaatggtgcttctctgtgacccc
ccataccattttccagatgatcttagctatcgctggcttctaaatgaatttcctgtattt
atcacaatggataaacggcgatttgtgtctcagacaaatggcaatctctacattgcaaat
gttgaggcttccgacaaaggcaattattcctgctttgtttccagtccttctattacaaag
agcgtgttcagcaaattcatcccactcattccaatacctgaacgaacaacaaaaccatat
cctgctgatattgtagttcagttcaaggatgtatatgcattgatgggccaaaatgtgacc
ttagaatgttttgcacttggaaatcctgttccggatatccgatggcggaaggttctagaa
ccaatgccaagcactgctgagattagcacctctggggctgttcttaagatcttcaatatt
cagctagaagatgaaggcatctatgaatgtgaggctgagaacattagaggaaaggataaa
catcaagcaagaatttatgttcaagcattccctgagtgggtagaacacatcaatgacaca
gaggtggacataggcagtgatctctactggccttgtgtggccacaggaaagcccatccct
acaatccgatggttgaaaaatggatatgcgtatcataaaggggaattaagactgtatgat
gtgacttttgaaaatgccggaatgtatcagtgcatagctgaaaacacatatggagccatt
tatgcaaatgctgagttgaagatcttggcgttggctccaacttttgaaatgaatcctatg
aagaaaaagatcctggctgctaaaggtggaagggtgataattgaatgcaaacctaaagct
gcaccgaaaccaaagttttcatggagtaaagggacagagtggcttgtcaatagcagcaga
atactcatttgggaagatggtagcttggaaatcaacaacattacaaggaatgatggaggt
atctatacatgctttgcagaaaataacagagggaaagctaatagcactggaacccttgtt
atcacagatcctacgcgaattatattggccccaattaatgccgatatcacagttggagaa
aacgccaccatgcagtgtgctgcgtcctttgatcctgccttggatctcacatttgtttgg
tccttcaatggctatgtgatcgattttaacaaagagaatattcactaccagaggaatttt
atgctggattccaatggggaattactaatccgaaatgcgcagctgaaacatgctggaaga
tacacatgcactgcccagacaattgtggacaattcttcagcttcagctgaccttgtagtg
agaggccctccaggccctccaggtggtctgagaatagaagacattagagccacttctgtg
gcacttacttggagccgtggttcagacaatcatagtcctatttctaaatacactatccag
accaagactattctttcagatgactggaaagatgcaaagacagatcccccaattattgaa
ggaaatatggaggcagcaagagcagtggacttaatcccatggatggagtatgaattccgc
gtggtagcaaccaatacactgggtagaggagagcccagtataccatctaacagaattaaa
acagacggtgctgcaccaaatgtggctccttcagatgtaggaggtggaggtggaagaaac
agagagctgaccataacatgggcgcctttgtcaagagaataccactatggcaacaatttt
ggttacatagtggcatttaagccatttgatggagaagaatggaaaaaagtcacagttact
aatcctgatactggccgatatgtccataaagatgaaaccatgagcccttccactgcattt
caagttaaagtcaaggccttcaacaacaaaggagatggaccttacagcctagtagcagtc
attaattcagcacaagacgctcccagtgaagccccaacagaagtaggtgtaaaagtctta
tcatcttctgagatatctgttcattgggaacatgttttagaaaaaatagtggaaagctat
cagattcggtattgggctgcccatgacaaagaagaagctgcaaacagagttcaagtcacc
agccaagagtactcggccaggctcgagaaccttctgccagacacccagtattttatagaa
gtcggggcctgcaatagtgcagggtgtggacctccaagtgacatgattgaggctttcacc
aagaaagcacctcctagccagcctccaaggatcatcagttcagtaaggtctggttcacgc
tatataatcacctgggatcatgtcgttgcactatcaaatgaatctacagtgacgggatat
aaggtactctacagacctgatggccagcatgatggcaagctgtattcaactcacaaacac
tccatagaagtcccaatccccagagatggagaatacgttgtggaggttcgcgcgcacagt
gatggaggagatggagtggtgtctcaagtcaaaatttcaggtgcacccaccctatcccca
agtcttctcggcttactgctgcctgcctttggcatccttgtctacttggaattctga

KEGG   Homo sapiens (human): 8506
Entry
8506              CDS       T01001                                 
Symbol
CNTNAP1, CASPR, CHN3, CNTNAP, NRXN4, P190
Name
(RefSeq) contactin associated protein 1
  KO
K07379  contactin associated protein 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04514  Cell adhesion molecules
hsa04517  IgSF CAM signaling
Network
nt06546  IgSF CAM signaling
  Element
N01935  NFASC interactions
N01936  CNTN1 interactions
Disease
H00865  Lethal congenital contractural syndrome
H02357  Congenital hypomyelinating neuropathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04514 Cell adhesion molecules
    8506 (CNTNAP1)
   04517 IgSF CAM signaling
    8506 (CNTNAP1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    8506 (CNTNAP1)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 Laminin domain-containing proteins
  Laminin G domain-containing proteins
   8506 (CNTNAP1)
SSDB
Motif
Pfam: Laminin_G_2 Laminin_G_1 F5_F8_type_C EGF Laminin_G_3 F5_F8_type_C_2
Other DBs
NCBI-GeneID: 8506
NCBI-ProteinID: NP_003623
OMIM: 602346
HGNC: 8011
Ensembl: ENSG00000108797
UniProt: P78357
LinkDB
Position
17:42682531..42699993
AA seq 1384 aa
MMHLRLFCILLAAVSGAEGWGYYGCDEELVGPLYARSLGASSYYSLLTAPRFARLHGISG
WSPRIGDPNPWLQIDLMKKHRIRAVATQGSFNSWDWVTRYMLLYGDRVDSWTPFYQRGHN
STFFGNVNESAVVRHDLHFHFTARYIRIVPLAWNPRGKIGLRLGLYGCPYKADILYFDGD
DAISYRFPRGVSRSLWDVFAFSFKTEEKDGLLLHAEGAQGDYVTLELEGAHLLLHMSLGS
SPIQPRPGHTTVSAGGVLNDQHWHYVRVDRFGRDVNFTLDGYVQRFILNGDFERLNLDTE
MFIGGLVGAARKNLAYRHNFRGCIENVIFNRVNIADLAVRRHSRITFEGKVAFRCLDPVP
HPINFGGPHNFVQVPGFPRRGRLAVSFRFRTWDLTGLLLFSRLGDGLGHVELTLSEGQVN
VSIAQSGRKKLQFAAGYRLNDGFWHEVNFVAQENHAVISIDDVEGAEVRVSYPLLIRTGT
SYFFGGCPKPASRWDCHSNQTAFHGCMELLKVDGQLVNLTLVEGRRLGFYAEVLFDTCGI
TDRCSPNMCEHDGRCYQSWDDFICYCELTGYKGETCHTPLYKESCEAYRLSGKTSGNFTI
DPDGSGPLKPFVVYCDIRENRAWTVVRHDRLWTTRVTGSSMERPFLGAIQYWNASWEEVS
ALANASQHCEQWIEFSCYNSRLLNTAGGYPYSFWIGRNEEQHFYWGGSQPGIQRCACGLD
RSCVDPALYCNCDADQPQWRTDKGLLTFVDHLPVTQVVIGDTNRSTSEAQFFLRPLRCYG
DRNSWNTISFHTGAALRFPPIRANHSLDVSFYFRTSAPSGVFLENMGGPYCQWRRPYVRV
ELNTSRDVVFAFDVGNGDENLTVHSDDFEFNDDEWHLVRAEINVKQARLRVDHRPWVLRP
MPLQTYIWMEYDQPLYVGSAELKRRPFVGCLRAMRLNGVTLNLEGRANASEGTSPNCTGH
CAHPRLPCFHGGRCVERYSYYTCDCDLTAFDGPYCNHDIGGFFEPGTWMRYNLQSALRSA
AREFSHMLSRPVPGYEPGYIPGYDTPGYVPGYHGPGYRLPDYPRPGRPVPGYRGPVYNVT
GEEVSFSFSTSSAPAVLLYVSSFVRDYMAVLIKDDGTLQLRYQLGTSPYVYQLTTRPVTD
GQPHSINITRVYRNLFIQVDYFPLTEQKFSLLVDSQLDSPKALYLGRVMETGVIDPEIQR
YNTPGFSGCLSGVRFNNVAPLKTHFRTPRPMTAELAEALRVQGELSESNCGAMPRLVSEV
PPELDPWYLPPDFPYYHDEGWVAILLGFLVAFLLLGLVGMLVLFYLQNHRYKGSYHTNEP
KAAHEYHPGSKPPLPTSGPAQVPTPTAAPNQAPASAPAPAPTPAPAPGPRDQNLPQILEE
SRSE
NT seq 4155 nt   +upstreamnt  +downstreamnt
atgatgcatctccggctcttctgcatcctgctcgccgcggtctcaggagccgagggctgg
ggctactacggctgcgacgaggagctggtgggtcccctgtatgcacgctccctgggcgcc
tcctcctactacagtctccttactgcgccgagattcgccaggctgcacggcataagcggg
tggtcaccacggattggggatccgaatccctggctccagatagacttaatgaagaagcac
cggatccgggccgtggccacacagggctcctttaattcttgggactgggtcacacgttac
atgctactctacggcgaccgagtggacagctggacaccgttctaccagcgagggcacaac
tcgaccttctttggtaacgtgaacgagtcggcggtggtgcgccatgacctgcacttccac
ttcactgcgcgctacatccgcatcgtgcccctggcctggaacccacgcggcaagatcggc
ctgaggctcggcctctatggctgcccatacaaggccgacatactctatttcgacggcgac
gatgccatctcctaccgcttcccgcgaggggtcagccgaagcctgtgggacgtgttcgcc
ttcagcttcaagaccgaggagaaggacggtcttctgctgcacgccgagggcgcccagggc
gactacgtgacgctcgagctggagggggcacacctgctgctgcacatgagcctgggcagc
agccctatccagccaagaccaggtcacaccaccgtgagcgcaggcggagtcctcaatgac
cagcactggcactatgtgcgggtggaccgatttggccgcgatgtaaatttcaccctggac
ggctatgtgcagcgctttattctcaatggagacttcgagaggctgaacctggacactgag
atgttcatcggaggtctggtgggcgccgcgcggaagaacctggcctatcggcataacttc
cgcggctgcatagaaaacgtaatcttcaaccgcgtcaacatcgcagacctggccgtgcgg
cgccattcccggatcaccttcgagggtaaggtggcttttcgttgcctggacccggtaccg
caccctatcaacttcggaggccctcacaacttcgttcaagtgcccggtttcccacgccgt
ggccgcctggcagtctcatttcgcttccgcacctgggacctcaccgggcttctccttttc
tcccgtctgggggacgggctgggccacgtggagctgacgctcagcgaagggcaggtcaac
gtgtccatcgcgcagagcggccgaaagaagcttcagttcgctgctgggtaccgactgaat
gacggcttttggcacgaggtgaattttgtggcacaggaaaaccatgcagttatcagcatt
gatgatgtggaaggggcagaggtcagggtctcatacccgttgctgatccggacagggacc
tcatatttctttgggggttgtcccaagccagccagtcgatgggactgccactccaaccag
acggcattccatggctgcatggagctgctcaaggtggatggtcaactggtcaacctgact
ctggtggagggccggcggcttggattctatgctgaggtcctctttgatacatgtggcatc
actgataggtgcagccctaacatgtgtgagcatgatggacgctgctaccagtcttgggat
gacttcatttgctactgcgaactgacgggctacaagggagagacctgccacacacctttg
tataaggaatcctgtgaggcttatcggctcagtgggaaaacttctggaaacttcaccatt
gatcctgatggcagtggccccctgaagccatttgtagtgtactgtgatatccgagagaac
cgagcgtggacagttgtgcggcatgacaggctgtggacaactcgagtgacaggttccagc
atggagcggccattcctgggggctatccagtactggaatgcatcctgggaggaagtcagt
gcccttgccaatgcttcccagcattgtgaacagtggatcgagttctcctgctacaattcc
cggctgctcaacactgcaggaggctacccctacagcttttggattggccgaaatgaggag
cagcacttctactggggaggctcccagcctgggatccagcgctgtgcctgtggtctggac
cggagctgtgtggaccctgccttgtactgcaactgtgacgctgaccagccccagtggaga
actgacaagggactgctgacctttgtggaccatctgcctgtcactcaggtagtgataggg
gatacgaaccgctccacttctgaggcccagttcttcctgaggcctctgcgctgctatggc
gatcgaaattcctggaacaccatttccttccacaccggggctgcactacgcttcccccca
atccgtgccaaccacagcctggatgtctccttctacttcaggacctctgctccctcgggg
gtcttcctagagaatatggggggcccttactgccagtggcgccgaccttatgtgcgggtg
gaactcaacacatcccgggatgtggtcttcgcctttgatgtggggaatggggatgagaac
ctcacagtacactcagacgactttgagttcaatgatgacgagtggcacctggtccgggct
gaaatcaacgtgaagcaggcccggctccgagtggatcaccggccctgggttctgcggcct
atgccactgcagacctacatctggatggagtatgaccagcccctctatgtgggatctgca
gagcttaagagacgcccctttgtgggttgcttgagggccatgcgtctgaacggagtgact
ctgaacctggagggccgtgccaatgcctctgagggtacctcacccaactgcacaggccac
tgtgcccaccctcggctcccctgtttccatggaggccgctgcgtggagcgctatagctac
tacacgtgtgactgtgacctcacggcttttgatgggccatactgcaaccacgatattggt
ggtttctttgagccgggcacctggatgcgctataacctacagtcagcgctgcgctctgca
gccagggagttctcccacatgctgagccggccagtgccaggctatgagcctggctacatc
ccgggctatgatactccgggctatgtgcctggctaccatggccccgggtaccgcctgccc
gactacccccggcctggtcggcctgtgcccggttaccgtgggcctgtctacaacgttacg
ggagaggaggtctccttcagcttcagcaccagctccgcccctgctgtcctgctctacgtc
agttcctttgttcgtgactacatggctgtgctcatcaaggatgatgggacccttcagctg
cgatatcagctgggcaccagtccctacgtgtaccagctaaccactcgaccagtgaccgat
ggccagccccatagcatcaatatcacccgtgtttaccggaacctcttcatccaggtggac
tacttcccactgacagagcagaagttctcgctgttggtggacagccagttggactcaccc
aaggccttgtatttagggcgtgtgatggagacaggagtcattgacccggagatccagcgc
tacaacaccccaggtttctcaggctgcctgtctggtgttcgattcaacaacgtggctccc
ctcaagacccacttccgaacccctcgacccatgactgctgagctagctgaggcccttcga
gttcagggagaactgtccgaatctaattgcggagctatgccacgtcttgtttcagaggtg
ccacctgagcttgatccctggtatctgcccccagacttcccctactaccatgatgaagga
tgggttgccatacttttaggctttttggtggcctttctgctgctggggctggtgggaatg
ttggtgctcttctatctgcaaaatcatcgctataagggctcctaccataccaatgagccc
aaggctgcccacgagtaccatcctggcagcaaacctcccctacccacttcaggccctgcc
caggtccccacccctacagcagctcccaaccaagctccagcctcagccccagccccagcc
ccaactccagccccagcccctggcccccgggatcagaacctaccccagatcctggaggag
tccaggtctgaatga

DBGET integrated database retrieval system