KEGG   Homo sapiens (human): 4868
Entry
4868              CDS       T01001                                 
Symbol
NPHS1, CNF, NPHN, nephrin
Name
(RefSeq) NPHS1 adhesion molecule, nephrin
  KO
K24496  nephrin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04517  IgSF CAM signaling
Network
nt06546  IgSF CAM signaling
  Element
N01943  SLIT-ROBO signaling in podocyte
N01961  NPHS1/NEPH interactions
Disease
H01657  Nephrotic syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04517 IgSF CAM signaling
    4868 (NPHS1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    4868 (NPHS1)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 Fibronectin (FN) domain-containing proteins
  Fibronectin type III domain-containing proteins
   4868 (NPHS1)
SSDB
Motif
Pfam: C2-set_2 Ig_3 I-set Ig_2 ig V-set fn3 C2-set_3 Ig_DSCAM-DSCAML_C DUF4643
Other DBs
NCBI-GeneID: 4868
NCBI-ProteinID: NP_004637
OMIM: 602716
HGNC: 7908
Ensembl: ENSG00000161270
UniProt: O60500
Structure
LinkDB
Position
19:complement(35825372..35852504)
AA seq 1241 aa
MALGTTLRASLLLLGLLTEGLAQLAIPASVPRGFWALPENLTVVEGASVELRCGVSTPGS
AVQWAKDGLLLGPDPRIPGFPRYRLEGDPARGEFHLHIEACDLSDDAEYECQVGRSEMGP
ELVSPRVILSILVPPKLLLLTPEAGTMVTWVAGQEYVVNCVSGDAKPAPDITILLSGQTI
SDISANVNEGSQQKLFTVEATARVTPRSSDNRQLLVCEASSPALEAPIKASFTVNVLFPP
GPPVIEWPGLDEGHVRAGQSLELPCVARGGNPLATLQWLKNGQPVSTAWGTEHTQAVARS
VLVMTVRPEDHGAQLSCEAHNSVSAGTQEHGITLQVTFPPSAIIILGSASQTENKNVTLS
CVSKSSRPRVLLRWWLGWRQLLPMEETVMDGLHGGHISMSNLTFLARREDNGLTLTCEAF
SEAFTKETFKKSLILNVKYPAQKLWIEGPPEGQKLRAGTRVRLVCLAIGGNPEPSLMWYK
DSRTVTESRLPQESRRVHLGSVEKSGSTFSRELVLVTGPSDNQAKFTCKAGQLSASTQLA
VQFPPTNVTILANASALRPGDALNLTCVSVSSNPPVNLSWDKEGERLEGVAAPPRRAPFK
GSAAARSVLLQVSSRDHGQRVTCRAHSAELRETVSSFYRLNVLYRPEFLGEQVLVVTAVE
QGEALLPVSVSANPAPEAFNWTFRGYRLSPAGGPRHRILSSGALHLWNVTRADDGLYQLH
CQNSEGTAEARLRLDVHYAPTIRALQDPTEVNVGGSVDIVCTVDANPILPGMFNWERLGE
DEEDQSLDDMEKISRGPTGRLRIHHAKLAQAGAYQCIVDNGVAPPARRLLRLVVRFAPQV
EHPTPLTKVAAAGDSTSSATLHCRARGVPNIVFTWTKNGVPLDLQDPRYTEHTYHQGGVH
SSLLTIANVSAAQDYALFTCTATNALGSDQTNIQLVSISRPDPPSGLKVVSLTPHSVGLE
WKPGFDGGLPQRFCIRYEALGTPGFHYVDVVPPQATTFTLTGLQPSTRYRVWLLASNALG
DSGLADKGTQLPITTPGLHQPSGEPEDQLPTEPPSGPSGLPLLPVLFALGGLLLLSNASC
VGGVLWQRRLRRLAEGISEKTEAGSEEDRVRNEYEESQWTGERDTQSSTVSTTEAEPYYR
SLRDFSPQLPPTQEEVSYSRGFTGEDEDMAFPGHLYDEVERTYPPSGAWGPLYDEVQMGP
WDLHWPEDTYQDPRGIYDQVAGDLDTLEPDSLPFELRGHLV
NT seq 3726 nt   +upstreamnt  +downstreamnt
atggccctggggacgacgctcagggcttctctcctgctcctggggctgctgactgaaggc
ctggcgcagttggcgattcctgcctccgttccccggggcttctgggccctgcctgaaaac
ctgacggtggtggagggggcctcagtggagctgcgttgtggggtcagcacccctggcagt
gcggtgcaatgggccaaagatgggctgctcctgggccccgaccccaggatcccaggcttc
ccgaggtaccgcctggaaggggaccctgctagaggtgaattccacctgcacatcgaggcc
tgtgacctcagcgatgacgcggagtatgagtgccaggtcggccgctctgagatggggccc
gagctcgtgtctcccagagtgatcctctccatcctggttcctcccaagctgctcctgctg
accccagaggcaggcaccatggtcacctgggtagctgggcaggagtacgtggtcaactgt
gtgtctggggacgcgaagccagcacctgacatcaccattctcctgagtggacagacaata
tctgacatctctgcaaacgtgaacgagggctcccagcagaaactcttcactgtggaggcc
acagccagggtgacaccccggagctcagataataggcagttgctggtctgtgaggcgtct
agcccagcactggaggcccccatcaaggcctcattcaccgtgaatgttctgttccctcca
ggaccccctgtcatcgagtggccaggcctggatgaggggcacgtgcgggcaggacagagc
ttggagctgccgtgcgtggcccgagggggtaatcccttagccacactgcagtggctgaag
aatggccagccggtgtccacagcgtggggcacagagcacacccaggcggtggcccgcagt
gtgctggtgatgaccgtgaggccagaagaccatggagcgcagctcagctgcgaggcccac
aacagcgtgtctgcagggacccaggagcacggcatcacactgcaggtcacctttccccct
agtgccattattatcttgggatctgcatcccagactgagaacaagaacgtgacactctcc
tgtgtcagcaagtccagtcgcccgcgggttctgctacgatggtggctgggctggcggcag
ctgctgcccatggaggagacagtcatggatggactgcatggcggtcacatctccatgtcc
aacctgacattcctggcgcggcgggaggacaacggtctgaccctcacatgtgaggccttc
agtgaagccttcaccaaggagaccttcaagaagtcgctcatcctgaacgtaaaatatccc
gcccagaaactgtggattgagggtcccccagagggccagaagctccgggctgggacccgg
gtgaggctggtgtgtttggctatcgggggcaacccagagccctccctcatgtggtacaag
gactcgcgcaccgtgaccgagtcgcggctgccgcaggagtcgcggcgcgtgcatctcggc
agcgtggagaaatctgggagcaccttctcccgagagctggtgctggtcacagggccgtcg
gacaaccaggccaagttcacgtgcaaggctggacagctcagcgcgtccacgcagctggcg
gtgcagtttcccccaactaacgtgacgatcctggccaacgcatccgcactgcgcccggga
gacgccttaaacttgacatgcgtcagcgtcagcagcaatccgccggtcaacttgtcctgg
gacaaggaaggggagaggctggagggcgtggccgccccaccccggagagccccattcaaa
ggctccgccgccgccaggagcgtccttctgcaagtgtcatcccgcgatcatggccagcgc
gtgacctgccgcgcccacagcgccgagctccgcgaaaccgtgagctccttctatcgcctc
aacgtactgtaccgtccagagttcctgggggagcaggtgctggtggtgaccgcggtggag
cagggcgaggcgttgctgcccgtgtccgtgtccgctaaccccgcccccgaggccttcaac
tggaccttccgcggctatcgcctcagtccagcgggcggcccccggcatcgcatcctgtcc
agcggggctctgcatctgtggaatgtgacccgcgcggacgacggcctctatcagctgcac
tgccagaactctgagggcaccgcggaagcgcggctgcggctggacgtgcactatgctccc
accatccgtgccctccaggaccccactgaggtgaacgtcgggggttctgtggacatagtc
tgcactgtcgatgccaatcccatcctcccgggcatgttcaactgggagagactgggagaa
gatgaggaggaccagagcctggatgacatggagaagatatccaggggaccaacggggcgc
ctgcggattcaccatgccaaactggcccaggctggcgcttaccagtgcattgtggacaat
ggggtggcgcctccagcacgacggctgctccgtcttgttgtcagatttgccccccaggtg
gagcaccccactcccctaactaaggtggctgcagctggagacagcaccagttctgccacc
ctccactgccgtgcccgaggtgtccccaacatcgttttcacttggacaaaaaacggggtc
cctctggatctccaagatcccaggtacacggagcacacataccaccagggtggtgtccac
agcagcctcctgaccattgccaacgtgtctgccgcccaggattacgccctcttcacatgt
acagccaccaacgcccttggctcggaccaaaccaacattcaacttgtcagcatcagccgc
cctgaccctccatcaggattaaaggttgtgagtctgaccccacactccgtggggctggag
tggaagcctggctttgatgggggcctgccacagaggttctgcatcaggtatgaggccctg
gggactccagggttccactatgtggatgtcgtaccaccccaggccaccaccttcacgctg
actggtctacagccttctacaagatacagggtctggctgctggccagtaatgccttgggg
gacagtggactggctgacaaagggacccagcttcccatcactaccccaggtctccaccag
ccttctggagaacctgaagaccagctgcccacagagccaccttcaggaccctcggggctg
cccctgctgcctgtgctgttcgctcttggggggcttctgctcctctccaatgcctcctgt
gtcgggggggtcctctggcagcggagactcaggcgtcttgctgagggcatctcagagaag
acagaggcagggtcggaagaggaccgagtcaggaacgaatatgaggagagccagtggaca
ggagagcgggacactcagagctccacggtcagcacaacagaggcagagccgtattaccgc
tccctgagggacttcagcccccagctgcccccgacgcaggaggaggtgtcttattcccga
ggtttcacaggtgaagatgaggatatggccttccctgggcacttgtatgatgaggtagaa
agaacgtaccccccgtctggagcctggggacccctctacgatgaagtgcagatgggaccc
tgggacctccactggcctgaagacacatatcaggatccaagaggaatctatgaccaggtg
gccggagacttggacactctggaacccgattctctgcccttcgagctgaggggacatctg
gtgtaa

KEGG   Homo sapiens (human): 55243
Entry
55243             CDS       T01001                                 
Symbol
KIRREL1, KIRREL, NEPH1, NPHS23
Name
(RefSeq) kirre like nephrin family adhesion molecule 1
  KO
K25874  Kirrel/Neph family protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa04517  IgSF CAM signaling
Network
nt06546  IgSF CAM signaling
  Element
N01961  NPHS1/NEPH interactions
Disease
H01657  Nephrotic syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04517 IgSF CAM signaling
    55243 (KIRREL1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04515 Cell adhesion molecules [BR:hsa04515]
    55243 (KIRREL1)
Cell adhesion molecules [BR:hsa04515]
 Immunoglobulin superfamily
  Other
   55243 (KIRREL1)
SSDB
Motif
Pfam: Ig_3 I-set Ig_2 ig V-set C2-set_2 Ig_5 C1-set Ig_4 Stevor FixQ
Other DBs
NCBI-GeneID: 55243
NCBI-ProteinID: NP_060710
OMIM: 607428
HGNC: 15734
Ensembl: ENSG00000183853
UniProt: Q96J84
LinkDB
Position
1:157993645..158100262
AA seq 757 aa
MLSLLVWILTLSDTFSQGTQTRFSQEPADQTVVAGQRAVLPCVLLNYSGIVQWTKDGLAL
GMGQGLKAWPRYRVVGSADAGQYNLEITDAELSDDASYECQATEAALRSRRAKLTVLIPP
EDTRIDGGPVILLQAGTPHNLTCRAFNAKPAATIIWFRDGTQQEGAVASTELLKDGKRET
TVSQLLINPTDLDIGRVFTCRSMNEAIPSGKETSIELDVHHPPTVTLSIEPQTVQEGERV
VFTCQATANPEILGYRWAKGGFLIEDAHESRYETNVDYSFFTEPVSCEVHNKVGSTNVST
LVNVHFAPRIVVDPKPTTTDIGSDVTLTCVWVGNPPLTLTWTKKDSNMVLSNSNQLLLKS
VTQADAGTYTCRAIVPRIGVAEREVPLYVNGPPIISSEAVQYAVRGDGGKVECFIGSTPP
PDRIAWAWKENFLEVGTLERYTVERTNSGSGVLSTLTINNVMEADFQTHYNCTAWNSFGP
GTAIIQLEEREVLPVGIIAGATIGASILLIFFFIALVFFLYRRRKGSRKDVTLRKLDIKV
ETVNREPLTMHSDREDDTASVSTATRVMKAIYSSFKDDVDLKQDLRCDTIDTREEYEMKD
PTNGYYNVRAHEDRPSSRAVLYADYRAPGPARFDGRPSSRLSHSSGYAQLNTYSRGPASD
YGPEPTPPGPAAPAGTDTTSQLSYENYEKFNSHPFPGAAGYPTYRLGYPQAPPSGLERTP
YEAYDPIGKYATATRFSYTSQHSDYGQRFQQRMQTHV
NT seq 2274 nt   +upstreamnt  +downstreamnt
atgctgagcctcctcgtctggatcctcactctctccgatactttctcccaagggacccag
acccgcttcagccaggagccagctgaccagacggtggtggctggacagcgggccgtgctc
ccctgtgtgctgctcaactactctggaattgtgcaatggaccaaggacgggctggccctg
ggcatgggccagggcctcaaagcctggccacggtaccgggttgtgggctccgcagacgct
gggcagtacaacctggagatcacagatgctgagctctctgacgacgcctcttacgagtgc
caggccacggaggccgccctgcgctctcggcgggccaaactcaccgtgctcatcccccca
gaggacaccaggattgacggaggccctgtgattctactgcaggcaggcaccccccacaac
ctcacatgccgggccttcaatgcgaagcctgctgccaccatcatctggttccgggacggg
acgcagcaggagggcgctgtggccagcacggaattgctgaaggatgggaagagggagacc
accgtgagccaactgcttattaaccccacggacctggacatagggcgtgtcttcacttgc
cgaagcatgaacgaagccatccctagtggcaaggagacttccatcgagctggatgtgcac
caccctcctacagtgaccctgtccattgagccacagacggtgcaggagggtgagcgtgtt
gtctttacctgccaggccacagccaaccccgagatcttgggctacaggtgggccaaaggg
ggtttcttgattgaagacgcccacgagagtcgctatgagacaaatgtggattattccttt
ttcacggagcctgtgtcttgtgaggttcacaacaaagtgggaagcaccaatgtcagcact
ttagtaaatgtccactttgctccccggattgtagttgaccccaaacccacaaccacagac
attggctctgatgtgacccttacctgtgtctgggttgggaatccccccctcactctcacc
tggaccaaaaaggactcaaatatggtcctgagtaacagcaaccagctgctgctgaagtcg
gtgactcaggcagacgctggcacctacacctgccgggccatcgtgcctcgaatcggagtg
gctgagcgggaggtgccgctctatgtgaacgggccccccatcatctccagtgaggcagtg
cagtatgctgtgaggggtgacggtggcaaggtggagtgtttcattgggagcacaccaccc
ccagaccgcatagcatgggcctggaaggagaacttcttggaggtggggaccctggaacgc
tatacagtggagaggaccaactcaggcagtggggtgctatccacgctcaccatcaacaat
gtcatggaggccgactttcagactcactacaactgcaccgcctggaacagcttcgggcca
ggcacagccatcatccagctggaagagcgagaggtgttacctgtgggcatcatagctggg
gccaccatcggcgcgagcatcctgctcatcttcttcttcatcgccttggtattcttcctc
taccggcgccgcaaaggcagtcgcaaagacgtgaccctgaggaagctggatatcaaggtg
gagacagtgaaccgagagccacttacgatgcattctgaccgggaggatgacaccgccagc
gtctccacagcaacccgggtcatgaaggccatctactcgtcgtttaaggatgatgtggat
ctgaagcaggacctgcgctgcgacaccatcgacacccgggaggagtatgagatgaaggac
cccaccaatggctactacaacgtgcgtgcccatgaagaccgcccgtcttccagggcagtg
ctctatgctgactaccgtgcccctggccctgcccgcttcgacggccgcccctcatcccgt
ctctcccactccagcggctatgcccagctcaacacctatagccggggccctgcctctgac
tatggccctgagcccacaccccctggccctgctgccccagctggcactgacacaaccagc
cagctgtcctacgagaactatgagaagttcaactcccatcccttccctggggcagctggg
taccccacctaccgactgggctacccccaggccccaccctctggcctggagcggacccca
tatgaggcgtatgaccccattggcaagtacgccacagccactcgattctcctacacctcc
cagcactcggactacggccagcgattccagcagcgcatgcagactcacgtgtag

KEGG   Homo sapiens (human): 84623
Entry
84623             CDS       T01001                                 
Symbol
KIRREL3, KIRRE, MRD4, NEPH2, PRO4502
Name
(RefSeq) kirre like nephrin family adhesion molecule 3
  KO
K25874  Kirrel/Neph family protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa04517  IgSF CAM signaling
Network
nt06546  IgSF CAM signaling
  Element
N01961  NPHS1/NEPH interactions
Disease
H00773  Autosomal dominant intellectual developmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04517 IgSF CAM signaling
    84623 (KIRREL3)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04515 Cell adhesion molecules [BR:hsa04515]
    84623 (KIRREL3)
Cell adhesion molecules [BR:hsa04515]
 Immunoglobulin superfamily
  Other
   84623 (KIRREL3)
SSDB
Motif
Pfam: Ig_3 I-set Ig_2 ig V-set C2-set_2 C1-set Ig_4 Mid2 Izumo-Ig
Other DBs
NCBI-GeneID: 84623
NCBI-ProteinID: NP_115920
OMIM: 607761
HGNC: 23204
Ensembl: ENSG00000149571
UniProt: Q8IZU9
Structure
LinkDB
Position
11:complement(126423358..127003394)
AA seq 778 aa
MKPFQLDLLFVCFFLFSQELGLQKRGCCLVLGYMAKDKFRRMNEGQVYSFSQQPQDQVVV
SGQPVTLLCAIPEYDGFVLWIKDGLALGVGRDLSSYPQYLVVGNHLSGEHHLKILRAELQ
DDAVYECQAIQAAIRSRPARLTVLVPPDDPVILGGPVISLRAGDPLNLTCHADNAKPAAS
IIWLRKGEVINGATYSKTLLRDGKRESIVSTLFISPGDVENGQSIVCRATNKAIPGGKET
SVTIDIQHPPLVNLSVEPQPVLEDNVVTFHCSAKANPAVTQYRWAKRGQIIKEASGEVYR
TTVDYTYFSEPVSCEVTNALGSTNLSRTVDVYFGPRMTTEPQSLLVDLGSDAIFSCAWTG
NPSLTIVWMKRGSGVVLSNEKTLTLKSVRQEDAGKYVCRAVVPRVGAGEREVTLTVNGPP
IISSTQTQHALHGEKGQIKCFIRSTPPPDRIAWSWKENVLESGTSGRYTVETISTEEGVI
STLTISNIVRADFQTIYNCTAWNSFGSDTEIIRLKEQGSEMKSGAGLEAESVPMAVIIGV
AVGAGVAFLVLMATIVAFCCARSQRNLKGVVSAKNDIRVEIVHKEPASGREGEEHSTIKQ
LMMDRGEFQQDSVLKQLEVLKEEEKEFQNLKDPTNGYYSVNTFKEHHSTPTISLSSCQPD
LRPAGKQRVPTGMSFTNIYSTLSGQGRLYDYGQRFVLGMGSSSIELCEREFQRGSLSDSS
SFLDTQCDSSVSSSGKQDGYVQFDKASKASASSSHHSQSSSQNSDPSRPLQRRMQTHV
NT seq 2337 nt   +upstreamnt  +downstreamnt
atgaaacccttccagctcgatctgctcttcgtctgcttcttcctcttcagtcaagagctg
ggcctccagaagagaggatgctgtctggtgctgggctacatggccaaggacaagtttcgg
agaatgaatgaaggccaagtctattccttcagccagcagccccaggaccaggtggtggtg
tcgggacagccagtgacgctactttgcgccatccccgaatacgatggcttcgttctgtgg
atcaaggacggcttggctctgggtgtgggcagggacctctcaagttacccacagtacctg
gtggtagggaaccacctgtcaggggagcaccacctgaagatcctgagggcagagctgcaa
gacgatgcggtgtacgagtgccaggccatccaggccgccatccgctcccgccccgcacgc
ctcacagtcctggtgccgcctgatgaccccgtcatcctggggggccctgtgatcagcctg
cgtgcgggggaccctctcaacctcacctgccacgcagacaatgccaagcctgcagcctcc
atcatctggttgcgaaagggagaggtcatcaatggggccacctactccaagaccctgctt
cgggacggcaagcgggagagcatcgtcagcaccctcttcatctcccctggtgacgtggag
aatggccagagcatcgtgtgtcgtgccaccaacaaagccatccccggaggaaaggagacg
tcggtcaccattgacatccagcaccctccactggtcaacctctcggtggagccacagcca
gtgctggaggacaacgtcgtcactttccactgctctgcaaaggccaacccagctgtcacc
cagtacaggtgggccaagcggggccagatcatcaaggaggcatctggagaggtgtacagg
accacagtggactacacgtacttctcagagcccgtctcctgtgaggtgaccaacgccctg
ggcagcaccaacctcagccgcacggttgacgtctactttgggccccggatgaccacagaa
ccccaatccttgctcgtggatctgggctctgatgccatcttcagctgcgcctggaccggc
aacccatccctgaccatcgtctggatgaagcggggctccggagtggtcctgagcaatgag
aagaccctgaccctcaaatccgtgcgccaggaggacgcgggcaagtacgtgtgccgggct
gtggtgccccgtgtgggagccggggagagagaggtgaccctgaccgtcaatggacccccc
atcatctccagcacccagacccagcacgccctccacggcgagaagggccagatcaagtgc
ttcatccggagcacgccgccgccggaccgcatcgcctggtcctggaaggagaacgttctg
gagtcgggcacatcggggcgctatacggtggagaccatcagcaccgaggagggcgtcatc
tccaccctgaccatcagcaacatcgtgcgggccgacttccagaccatctacaactgcacg
gcctggaacagcttcggctccgacactgagatcatccggctcaaggagcaaggttcggaa
atgaagtcgggagccgggctggaagcagagtctgtgccgatggccgtcatcattggggtg
gccgtaggagctggtgtggccttcctcgtccttatggcaaccatcgtggcgttctgctgt
gcccgttcccagagaaatctcaaaggtgttgtgtcagccaaaaatgatatccgagtggaa
attgtccacaaggaaccagcctctggtcgggagggtgaggagcactccaccatcaagcag
ctgatgatggaccggggtgaattccagcaagactcagtcctgaaacagctggaggtcctc
aaagaagaggagaaagagtttcagaacctgaaggaccccaccaatggctactacagcgtc
aacaccttcaaagagcaccactcaaccccgaccatctccctctccagctgccagcccgac
ctgcgtcctgcgggcaagcagcgtgtgcccacaggcatgtccttcaccaacatctacagc
accctgagcggccagggccgcctctacgactacgggcagcggtttgtgctgggcatgggc
agctcgtccatcgagctttgtgagcgggagttccagagaggctccctcagcgacagcagc
tccttcctggacacgcagtgtgacagcagcgtcagcagcagcggcaagcaggatggctat
gtgcagttcgacaaggccagcaaggcttctgcttcctcctcccaccactcccagtcctcg
tcccagaactctgaccccagtcgacccctgcagcggcggatgcagactcacgtctaa

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