SEC63
entrez
11231
canonical
uniprot
Q9UGP8
canonical
ensembl
ENSG00000025796
resolver
ensp
ENSP00000357998
resolver
enst
ENST00000369002
resolver
genesymbol
SEC63
resolver
genesymbol_syn
DNAJC23
resolver
genesymbol_syn
SEC63L
resolver
hgnc
HGNC:21082
resolver
uniprot
A0A0S2Z5M1
resolver
uniprot
O95380
resolver
uniprot
Q5THN4
resolver
uniprot
Q86VS9
resolver
uniprot
Q8IWL0
resolver
uniprot
Q9NTE0
resolver
uniprot_entry
A0A0S2Z5M1_HUMAN
resolver
uniprot_entry
SEC63_HUMAN
resolver
uniprot_sec
O95380
resolver
uniprot_sec
Q5THN4
resolver
uniprot_sec
Q86VS9
resolver
uniprot_sec
Q8IWL0
resolver
uniprot_sec
Q9NTE0
resolver
amino_acid_sequence
MAGQQFQYDDSGNTFFYFLTSFVGLIVIPATYYLWPRDQNAEQIRLKNIRKVYGRCMWYRLRLLKPQPNIIPTVKKIVLLAGWALFLFLAYKVSKTDREYQEYNPYEVLNLDPGATVAEIKKQYRLLSLKYHPDKGGDEVMFMRIAKAYAALTDEESRKNWEEFGNPDGPQATSFGIALPAWIVDQKNSILVLLVYGLAFMVILPVVVGSWWYRSIRYSGDQILIRTTQIYTYFVYKTRNMDMKRLIMVLAGASEFDPQYNKDATSRPTDNILIPQLIREIGSINLKKNEPPLTCPYSLKARVLLLSHLARMKIPETLEEDQQFMLKKCPALLQEMVNVICQLIVMARNREEREFRAPTLASLENCMKLSQMAVQGLQQFKSPLLQLPHIEEDNLRRVSNHKKYKIKTIQDLVSLKESDRHTLLHFLEDEKYEEVMAVLGSFPYVTMDIKSQVLDDEDSNNITVGSLVTVLVKLTRQTMAEVFEKEQSICAAEEQPAEDGQGETNKNRTKGGWQQKSKGPKKTAKSKKKKPLKKKPTPVLLPQSKQQKQKQANGVVGNEAAVKEDEEEVSDKGSDSEEEETNRDSQSEKDDGSDRDSDREQDEKQNKDDEAEWQELQQSIQRKERALLETKSKITHPVYSLYFPEEKQEWWWLYIADRKEQTLISMPYHVCTLKDTEEVELKFPAPGKPGNYQYTVFLRSDSYMGLDQIKPLKLEVHEAKPVPENHPQWDTAIEGDEDQEDSEGFEDSFEEEEEEEEDDD
uniprot
proteins
disease_involvement
DISEASE: Polycystic liver disease 2 with or without kidney cysts (PCLD2) [MIM:617004]: An autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. A subset of patients may develop kidney cysts that usually do not result in clinically significant renal disease. {ECO:0000269|PubMed:15133510, ECO:0000269|PubMed:28375157}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Mediates cotranslational and post-translational transport of certain precursor polypeptides across endoplasmic reticulum (ER) (PubMed:22375059, PubMed:29719251). Proposed to play an auxiliary role in recognition of precursors with short and apolar signal peptides. May cooperate with SEC62 and HSPA5/BiP to facilitate targeting of small presecretory proteins into the SEC61 channel-forming translocon complex, triggering channel opening for polypeptide translocation to the ER lumen (PubMed:29719251). Required for efficient PKD1/Polycystin-1 biogenesis and trafficking to the plasma membrane of the primary cilia (By similarity). {ECO:0000250|UniProtKB:Q8VHE0, ECO:0000269|PubMed:22375059, ECO:0000269|PubMed:29719251}.
uniprot
proteins
mass_dalton
87997
uniprot
proteins
mutagenesis
MUTAGEN 132; /note="H->Q: Reduces cotranslational translocation of APLN precursor/preproapelin."; /evidence="ECO:0000269|PubMed:29719251"; MUTAGEN 735..760; /note="Missing: Reduces cotranslational translocation of APLN precursor/preproapelin."; /evidence="ECO:0000269|PubMed:29719251
uniprot
proteins
pubmed
10543453
uniprot
proteins
pubmed
10799540
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15133510
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18663603
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22375059
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28375157
uniprot
proteins
pubmed
29719251
uniprot
proteins
sequence_length
760
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 15..35; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 70..90; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 189..209; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins