KEGG   Homo sapiens (human): 4868
Entry
4868              CDS       T01001                                 
Symbol
NPHS1, CNF, NPHN, nephrin
Name
(RefSeq) NPHS1 adhesion molecule, nephrin
  KO
K24496  nephron
Organism
hsa  Homo sapiens (human)
Disease
H01657  Nephrotic syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 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 DUF4643
Other DBs
NCBI-GeneID: 4868
NCBI-ProteinID: NP_004637
OMIM: 602716
HGNC: 7908
Ensembl: ENSG00000161270
UniProt: O60500
Structure
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

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Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (14)   
   KEGG ORTHOLOGY (1)   
   RefGene (8)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (15)   
   RefSeq(nuc) (1)   
   GenBank (7)   
   EMBL (7)   
3D Structure (1)   
   PDB (1)   
Protein domain (8)   
   Pfam (8)   
All databases (47)   

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