Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
29927
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
SEC61 translocon subunit alpha 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
SEC61A1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
ADTKD5, CVID15, HNFJ4, HSEC61, SEC61, SEC61A |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
|
ADTKD5, CVID15 |
Chromosome
Chromosome number
|
3 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
3q21.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-b |
UniProt ID |
P61619
|
Protein name |
Protein transport protein Sec61 subunit alpha isoform 1 (Sec61 alpha-1) |
Protein 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:3 |
PDB |
6W6L
,
8B6L
,
8DNV
,
8DNW
,
8DNX
,
8DNY
,
8DNZ
,
8DO0
,
8DO1
,
8DO2
,
8DO3
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF10559
|
Plug_translocon |
40 → 74 |
Plug domain of Sec61p |
Domain |
PF00344
|
SecY |
75 → 458 |
SecY translocase |
Family |
|
Tissue specificity |
TISSUE SPECIFICITY: Expressed in proximal and distal tubules in kidney (at protein level). {ECO:0000269|PubMed:28782633}. |
Sequence |
|
Sequence length |
476 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Anemia |
Anemia |
rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 View all (89 more) |
|
Hyperuricemic nephropathy |
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4 |
rs879255648, rs752745051 |
27392076, 30586318 |
Kidney disease |
Kidney Diseases, Chronic Kidney Diseases |
rs74315342, rs749740335, rs757649673, rs112417755, rs35138315 |
27392076 |
Neutropenia |
Neutropenia |
rs879253882 |
|
Renal cyst |
Simple renal cyst |
rs376586707, rs431905522, rs1057518761, rs1555454411, rs140039128, rs1567413573 |
|
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Hyperuricemic Nephropathy |
hyperuricemic nephropathy, familial juvenile type 4 |
|
|
GenCC |
Prostate cancer |
Prostate cancer |
Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. |
|
GWAS, CBGDA |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Agammaglobulinemia |
Associate
|
28782633 |
Carcinoma Hepatocellular |
Associate
|
36524514 |
Common Variable Immunodeficiency |
Associate
|
32325141 |
Diabetes Mellitus Type 2 |
Associate
|
21987770 |
Genetic Diseases Inborn |
Associate
|
28782633 |
Immunologic Deficiency Syndromes |
Associate
|
28782633 |
Kidney Diseases |
Associate
|
31288791, 32325141 |
Leukemia Plasma Cell |
Associate
|
28782633 |
Multiple Myeloma |
Associate
|
28782633, 35192775 |
Neoplasms |
Associate
|
33152346 |
Neurodegenerative Diseases |
Associate
|
32502491 |
Neutropenia Severe Congenital Autosomal Recessive 3 |
Associate
|
32325141 |
Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
35434798 |
Primary Immunodeficiency Diseases |
Associate
|
28782633 |
Prostatic Neoplasms |
Associate
|
34082608 |
|