KEGG   Homo sapiens (human): 7466
Entry
7466              CDS       T01001                                 
Symbol
WFS1, CTRCT41, WFRS, WFS, WFSL, DFNA6, DFNA14, DFNA38
Name
(RefSeq) wolframin ER transmembrane glycoprotein
  KO
K14020  wolfamin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04141  Protein processing in endoplasmic reticulum
Disease
H00409  Type 2 diabetes mellitus
H00604  Deafness, autosomal dominant
H00854  Wolfram syndrome
H01202  Cataract
H01705  Bilateral sudden sensorineural hearing loss
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09123 Folding, sorting and degradation
   04141 Protein processing in endoplasmic reticulum
    7466 (WFS1)
SSDB
Motif
Pfam: WC-rich WCOB WSLR WEF-hand HTH_16
Other DBs
NCBI-GeneID: 7466
NCBI-ProteinID: NP_001139325
OMIM: 606201
HGNC: 12762
Ensembl: ENSG00000109501
UniProt: O76024 A0A0S2Z4V6
Position
4:6269850..6303265
AA seq 890 aa
MDSNTAPLGPSCPQPPPAPQPQARSRLNATASLEQERSERPRAPGPQAGPGPGVRDAAAP
AEPQAQHTRSRERADGTGPTKGDMEIPFEEVLERAKAGDPKAQTEVGKHYLQLAGDTDEE
LNSCTAVDWLVLAAKQGRREAVKLLRRCLADRRGITSENEREVRQLSSETDLERAVRKAA
LVMYWKLNPKKKKQVAVAELLENVGQVNEHDGGAQPGPVPKSLQKQRRMLERLVSSESKN
YIALDDFVEITKKYAKGVIPSSLFLQDDEDDDELAGKSPEDLPLRLKVVKYPLHAIMEIK
EYLIDMASRAGMHWLSTIIPTHHINALIFFFIVSNLTIDFFAFFIPLVIFYLSFISMVIC
TLKVFQDSKAWENFRTLTDLLLRFEPNLDVEQAEVNFGWNHLEPYAHFLLSVFFVIFSFP
IASKDCIPCSELAVITGFFTVTSYLSLSTHAEPYTRRALATEVTAGLLSLLPSMPLNWPY
LKVLGQTFITVPVGHLVVLNVSVPCLLYVYLLYLFFRMAQLRNFKGTYCYLVPYLVCFMW
CELSVVILLESTGLGLLRASIGYFLFLFALPILVAGLALVGVLQFARWFTSLELTKIAVT
VAVCSVPLLLRWWTKASFSVVGMVKSLTRSSMVKLILVWLTAIVLFCWFYVYRSEGMKVY
NSTLTWQQYGALCGPRAWKETNMARTQILCSHLEGHRVTWTGRFKYVRVTDIDNSAESAI
NMLPFFIGDWMRCLYGEAYPACSPGNTSTAEEELCRLKLLAKHPCHIKKFDRYKFEITVG
MPFSSGADGSRSREEDDVTKDIVLRASSEFKSVLLSLRQGSLIEFSTILEGRLGSKWPVF
ELKAISCLNCMAQLSPTRRHVKIEHDWRSTVHGAVKFAFDFFFFPFLSAA
NT seq 2673 nt   +upstreamnt  +downstreamnt
atggactccaacactgctccgctgggcccctcctgcccacagcccccgccagcaccgcag
ccccaggcgcgttcccgactcaatgccacagcctcgttggagcaggagaggagcgaaagg
ccccgagcacccggaccccaggctggccctggccctggtgttagagacgcagcggccccc
gctgaaccccaggcccagcataccaggagccgggaaagagcagacggcaccgggcctaca
aagggagacatggaaatcccctttgaagaagtcctggagagggccaaggccggggacccc
aaggcacagactgaggtggggaagcactacctgcagttggccggcgacacggatgaagaa
ctcaacagctgcaccgctgtggactggctggtcctcgccgcgaagcagggccgtcgcgag
gctgtgaagctgcttcgccggtgcttggcggacagaagaggcatcacgtccgagaacgaa
cgggaggtgaggcagctctcctccgagaccgacctggagagggccgtgcgcaaggcagcc
ctggtcatgtactggaagctcaaccccaagaagaagaagcaggtggccgtggcggagctg
ctggagaatgtcggccaggtcaacgagcacgatggaggggcgcagccaggccccgtgccc
aagtccctgcagaagcagaggcgcatgctggagcgcctggtcagcagcgagtccaagaac
tacatcgcgctggatgactttgtggagatcactaagaagtacgccaagggcgtcatcccc
agcagcctgttcctgcaggacgacgaagatgatgacgagctggcggggaagagccctgag
gacctgccactgcgtctgaaggtggtcaagtaccccctgcacgccatcatggagatcaag
gagtacctgattgacatggcctccagggcaggcatgcactggctgtccaccatcatcccc
acgcaccacatcaacgcgctcatcttcttcttcatcgtcagcaacctcaccatcgacttc
ttcgccttcttcatcccgctggtcatcttctacctgtccttcatctccatggtgatctgc
accctcaaggtgttccaggacagcaaggcctgggagaacttccgcaccctcaccgacctg
ctgctgcgcttcgagcccaacctggatgtggagcaggccgaggtcaacttcggctggaac
cacctggagccctatgcccatttcctgctctctgtcttcttcgtcatcttctccttcccc
atcgccagcaaggactgcatcccctgctcggagctggctgtcatcaccggcttctttacc
gtgaccagctacctgagcctgagcacccatgcagagccctacacgcgcagggccctggcc
accgaggtcaccgccggcctgctatcgctgctgccctccatgcccttgaattggccctac
ctgaaggtccttggccagaccttcatcaccgtgcctgtcggccacctggtcgtcctcaac
gtcagcgtcccgtgcctgctctatgtctacctgctctatctcttcttccgcatggcacag
ctgaggaatttcaagggcacctactgctaccttgtgccctacctggtgtgcttcatgtgg
tgtgagctctccgtggtcatcctgctggagtccaccggcctggggctgctccgcgcctcc
atcggctacttcctcttcctctttgccctccccatcctggtggccggcctggccctggtg
ggcgtgctgcagttcgcccggtggttcacgtctctggagctcaccaagatcgcagtcacc
gtggcggtctgtagtgtgcccctgctgttgcgctggtggaccaaggccagcttctctgtg
gtggggatggtgaagtccctgacgcggagctccatggtcaagctcatcctggtgtggctc
acggccatcgtgctgttctgctggttctatgtgtaccgctcagagggcatgaaggtctac
aactccacactgacctggcagcagtatggtgcgctgtgcgggccacgcgcctggaaggag
accaacatggcgcgcacccagatcctctgcagccacctggagggccacagggtcacgtgg
accggccgcttcaagtacgtccgcgtgactgacatcgacaacagcgccgagtctgccatc
aacatgctcccgttcttcatcggcgactggatgcgctgcctctacggcgaggcctaccct
gcctgcagccctggcaacacctccacggccgaggaggagctctgtcgccttaagctgctg
gccaagcacccctgccacatcaagaagttcgaccgctacaagtttgagattaccgtgggc
atgccattcagcagcggcgctgacggctcgcgcagccgcgaggaggacgacgtcaccaag
gacatcgtgctgcgggccagcagcgagttcaagagcgtgctgctcagcctgcgccagggc
agcctcatcgagttcagcaccatcctggagggccgcctgggcagcaagtggcctgtcttc
gagctcaaggccatcagctgcctcaactgcatggcccagctctcacccaccaggcggcac
gtgaagatcgagcacgactggcgcagcaccgtgcatggcgccgtgaagttcgccttcgac
ttctttttcttcccattcctgtcggcggcctga

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Ontology (1)   
   KEGG BRITE (1)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (11)   
   KEGG DISEASE (5)   
   OMIM (6)   
Genome (1)   
   KEGG GENOME (1)   
Gene (18)   
   KEGG ORTHOLOGY (1)   
   RefGene (11)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (5)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (18)   
   RefSeq(nuc) (2)   
   GenBank (8)   
   EMBL (8)   
Protein domain (5)   
   Pfam (5)   
All databases (60)   

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