KEGG T01001: 7466

Homo sapiens (human): 7466

Entry

7466 CDS T01001

Gene name

WFS1, WFRS, WFS, WFSL, DFNA6, DFNA14, DFNA38

Definition

Wolfram syndrome 1 (wolframin)

Orthology

K14020

wolfamin

Organism

hsa Homo sapiens (human)

Pathway

hsa04141

Protein processing in endoplasmic reticulum

Disease

H00409	Type II diabetes mellitus
H00604	Deafness, autosomal dominant
H00854	Wolfram syndrome (WFS)

Class

Genetic Information Processing; Folding, sorting and degradation; Protein processing in endoplasmic reticulum [PATH:hsa04141]

SSDB

Motif

Pfam:

Sel1

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Position

4p16.1

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

All links

Ontology (1)   
   KEGG BRITE (1)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (8)   
   KEGG DISEASE (3)   
   OMIM (5)   
Genome (1)   
   KEGG GENOME (1)   
Gene (16)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (7)   
   UniGene (2)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (3)   
   UniProt (1)   
   RefSeq(pep) (2)   
DNA sequence (16)   
   RefSeq(nuc) (2)   
   GenBank (7)   
   EMBL (7)   
Protein domain (1)   
   Pfam (1)   
All databases (47)   

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