Homo sapiens (human): 4868 Help 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) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  C2-set_2 Ig_3 I-set Ig_2 ig V-set fn3 C2-set_3 Ig_DSCAM-DSCAML_C DUF4643 Motif Other DBs NCBI-GeneID:  4868 NCBI-ProteinID:  NP_004637 OMIM:  602716 HGNC:  7908 Ensembl:  ENSG00000161270 UniProt:  O60500 Structure PDBPDBj LinkDB All DBs Position 19:complement(35825372..35852504) Genome browser AA seq 1241 aa AA seqDB search 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 NT seq  +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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