Homo sapiens (human): 7466
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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)
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Gene cluster
GFIT
Motif
Pfam:
WC-rich
WCOB
WSLR
WEF-hand
HTH_16
Motif
Other DBs
NCBI-GeneID:
7466
NCBI-ProteinID:
NP_001139325
OMIM:
606201
HGNC:
12762
Ensembl:
ENSG00000109501
UniProt:
O76024
A0A0S2Z4V6
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Position
4:6269850..6303265
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AA seq
890 aa
AA seq
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MDSNTAPLGPSCPQPPPAPQPQARSRLNATASLEQERSERPRAPGPQAGPGPGVRDAAAP
AEPQAQHTRSRERADGTGPTKGDMEIPFEEVLERAKAGDPKAQTEVGKHYLQLAGDTDEE
LNSCTAVDWLVLAAKQGRREAVKLLRRCLADRRGITSENEREVRQLSSETDLERAVRKAA
LVMYWKLNPKKKKQVAVAELLENVGQVNEHDGGAQPGPVPKSLQKQRRMLERLVSSESKN
YIALDDFVEITKKYAKGVIPSSLFLQDDEDDDELAGKSPEDLPLRLKVVKYPLHAIMEIK
EYLIDMASRAGMHWLSTIIPTHHINALIFFFIVSNLTIDFFAFFIPLVIFYLSFISMVIC
TLKVFQDSKAWENFRTLTDLLLRFEPNLDVEQAEVNFGWNHLEPYAHFLLSVFFVIFSFP
IASKDCIPCSELAVITGFFTVTSYLSLSTHAEPYTRRALATEVTAGLLSLLPSMPLNWPY
LKVLGQTFITVPVGHLVVLNVSVPCLLYVYLLYLFFRMAQLRNFKGTYCYLVPYLVCFMW
CELSVVILLESTGLGLLRASIGYFLFLFALPILVAGLALVGVLQFARWFTSLELTKIAVT
VAVCSVPLLLRWWTKASFSVVGMVKSLTRSSMVKLILVWLTAIVLFCWFYVYRSEGMKVY
NSTLTWQQYGALCGPRAWKETNMARTQILCSHLEGHRVTWTGRFKYVRVTDIDNSAESAI
NMLPFFIGDWMRCLYGEAYPACSPGNTSTAEEELCRLKLLAKHPCHIKKFDRYKFEITVG
MPFSSGADGSRSREEDDVTKDIVLRASSEFKSVLLSLRQGSLIEFSTILEGRLGSKWPVF
ELKAISCLNCMAQLSPTRRHVKIEHDWRSTVHGAVKFAFDFFFFPFLSAA
NT seq
2673 nt
NT seq
+upstream
nt +downstream
nt
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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