SEC61A1
entrez
29927
canonical
uniprot
P61619
canonical
ensembl
ENSG00000058262
resolver
ensp
ENSP00000243253
resolver
ensp
ENSP00000418493
resolver
ensp
ENSP00000419172
resolver
enst
ENST00000464451
resolver
enst
ENST00000481210
resolver
genesymbol
SEC61A1
resolver
genesymbol_syn
SEC61A
resolver
hgnc
HGNC:18276
resolver
uniprot
B3KME8
resolver
uniprot
B3KNF6
resolver
uniprot
B4DR61
resolver
uniprot
C9JXC6
resolver
uniprot
D3DNB2
resolver
uniprot
F6W5G5
resolver
uniprot
P38378
resolver
uniprot
P57726
resolver
uniprot
Q5JPF8
resolver
uniprot
Q8N0Z4
resolver
uniprot
Q8N3U3
resolver
uniprot
Q8NC71
resolver
uniprot
Q9BU16
resolver
uniprot
Q9Y2R3
resolver
uniprot_entry
B3KME8_HUMAN
resolver
uniprot_entry
B3KNF6_HUMAN
resolver
uniprot_entry
B4DR61_HUMAN
resolver
uniprot_entry
C9JXC6_HUMAN
resolver
uniprot_entry
F6W5G5_HUMAN
resolver
uniprot_entry
S61A1_HUMAN
resolver
uniprot_sec
D3DNB2
resolver
uniprot_sec
P38378
resolver
uniprot_sec
P57726
resolver
uniprot_sec
Q5JPF8
resolver
uniprot_sec
Q8N0Z4
resolver
uniprot_sec
Q8N3U3
resolver
uniprot_sec
Q8NC71
resolver
uniprot_sec
Q9BU16
resolver
uniprot_sec
Q9Y2R3
resolver
amino_acid_sequence
MAIKFLEVIKPFCVILPEIQKPERKIQFKEKVLWTAITLFIFLVCCQIPLFGIMSSDSADPFYWMRVILASNRGTLMELGISPIVTSGLIMQLLAGAKIIEVGDTPKDRALFNGAQKLFGMIITIGQSIVYVMTGMYGDPSEMGAGICLLITIQLFVAGLIVLLLDELLQKGYGLGSGISLFIATNICETIVWKAFSPTTVNTGRGMEFEGAIIALFHLLATRTDKVRALREAFYRQNLPNLMNLIATIFVFAVVIYFQGFRVDLPIKSARYRGQYNTYPIKLFYTSNIPIILQSALVSNLYVISQMLSARFSGNLLVSLLGTWSDTSSGGPARAYPVGGLCYYLSPPESFGSVLEDPVHAVVYIVFMLGSCAFFSKTWIEVSGSSAKDVAKQLKEQQMVMRGHRETSMVHELNRYIPTAAAFGGLCIGALSVLADFLGAIGSGTGILLAVTIIYQYFEIFVKEQSEVGSMGALLF
uniprot
proteins
disease_involvement
DISEASE: Tubulointerstitial kidney disease, autosomal dominant 5 (ADTKD5) [MIM:617056]: A form of autosomal dominant tubulointerstitial kidney disease, a genetically heterogeneous disorder characterized by slowly progressive loss of kidney function, bland urinary sediment, hyperuricemia, absent or mildly increased albuminuria, lack of severe hypertension during the early stages, and normal or small kidneys on ultrasound. Renal histology shows variable abnormalities including interstitial fibrosis with tubular atrophy, microcystic dilatation of the tubules, thickening of tubular basement membranes, medullary cysts, and secondary glomerulosclerotic or glomerulocystic changes with abnormal glomerular tufting. There is significant variability, as well as incomplete penetrance. {ECO:0000269|PubMed:27392076, ECO:0000269|PubMed:33185949}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Immunodeficiency, common variable, 15 (CVID15) [MIM:620670]: An autosomal dominant immunologic disorder resulting in recurrent severe infections since early childhood or infancy, and characterized by hypogammaglobulinemia with antibody deficiencies of IgM, IgG, and IgA due to impaired plasma cell homeostasis, although other B cell subset numbers are normal. T and NK cells are also normal. CVID15 inheritance is autosomal dominant. {ECO:0000269|PubMed:28782633}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neutropenia, severe congenital, 11, autosomal dominant (SCN11) [MIM:620674]: A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l, and early onset of severe bacterial infections. SCN11 is characterized by the onset of recurrent infections, mainly bacterial, in early childhood. {ECO:0000269|PubMed:32325141}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of SEC61 channel-forming translocon complex that mediates transport of signal peptide-containing precursor polypeptides across the endoplasmic reticulum (ER) (PubMed:12475939, PubMed:22375059, PubMed:28782633, PubMed:29719251, PubMed:32814900). Forms a ribosome receptor and a gated pore in the ER membrane, both functions required for cotranslational translocation of nascent polypeptides (PubMed:22375059, PubMed:28782633, PubMed:29719251). May cooperate with auxiliary protein SEC62, SEC63 and HSPA5/BiP to enable post-translational transport of small presecretory proteins (PubMed:22375059, PubMed:29719251). The SEC61 channel is also involved in ER membrane insertion of transmembrane proteins: it mediates membrane insertion of the first few transmembrane segments of proteins, while insertion of subsequent transmembrane regions of multi-pass membrane proteins is mediated by the multi-pass translocon (MPT) complex (PubMed:32820719, PubMed:36261522). The SEC61 channel cooperates with the translocating protein TRAM1 to import nascent proteins into the ER (PubMed:8616892). Controls the passive efflux of calcium ions from the ER lumen to the cytosol through SEC61 channel, contributing to the maintenance of cellular calcium homeostasis (PubMed:28782633). Plays a critical role in nephrogenesis, specifically at pronephros stage (By similarity). {ECO:0000250|UniProtKB:P61620, ECO:0000269|PubMed:12475939, ECO:0000269|PubMed:22375059, ECO:0000269|PubMed:28782633, ECO:0000269|PubMed:29719251, ECO:0000269|PubMed:32814900, ECO:0000269|PubMed:32820719, ECO:0000269|PubMed:36261522, ECO:0000269|PubMed:8616892}.
uniprot
proteins
mass_dalton
52265
uniprot
proteins
mutagenesis
MUTAGEN 344; /note="Y->H: Reduces cotranslational translocation of APLN precursor/preproapelin."; /evidence="ECO:0000269|PubMed:29719251
uniprot
proteins
protein_family
SecY/SEC61-alpha family
uniprot
proteins
pubmed
12475939
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22375059
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27392076
uniprot
proteins
pubmed
28782633
uniprot
proteins
pubmed
29719251
uniprot
proteins
pubmed
32325141
uniprot
proteins
pubmed
32814900
uniprot
proteins
pubmed
32820719
uniprot
proteins
pubmed
33185949
uniprot
proteins
pubmed
36261522
uniprot
proteins
pubmed
36697828
uniprot
proteins
pubmed
8616892
uniprot
proteins
sequence_length
476
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12475939, ECO:0000269|PubMed:27392076, ECO:0000269|PubMed:32325141, ECO:0000269|PubMed:32814900, ECO:0000269|PubMed:36261522, ECO:0000269|PubMed:8616892}; Multi-pass membrane protein {ECO:0000305}. Note=Localizes exclusively in granular structures in the endoplasmic reticulum (ER). {ECO:0000269|PubMed:27392076}.
uniprot
proteins
transmembrane_region
TRANSMEM 34..53; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 77..96; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 118..138; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 145..165; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 173..193; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 241..261; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 289..309; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 355..375; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 421..441; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 446..462; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins