Gene
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
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs752745051 T>G Pathogenic Coding sequence variant, missense variant
rs879255648 A>G Pathogenic Missense variant, coding sequence variant
rs1553721236 T>A Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016511 hsa-miR-193b-3p Microarray 20304954
MIRT018417 hsa-miR-335-5p Microarray 18185580
MIRT021794 hsa-miR-132-3p Microarray 17612493
MIRT022079 hsa-miR-128-3p Microarray 17612493
MIRT023915 hsa-miR-1-3p Proteomics 18668040
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005048 Function Signal sequence binding IBA
GO:0005262 Function Calcium channel activity IMP 28782633
GO:0005515 Function Protein binding IPI 22314232, 22796945, 29568061, 32820719, 35271311, 35384245
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005784 Component Sec61 translocon complex IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609213 18276 ENSG00000058262
Protein
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Protein export
Protein processing in endoplasmic reticulum
Phagosome
Vibrio cholerae infection
 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hyperuricemic Nephropathy Hyperuricemic nephropathy, familial juvenile type 4 rs879255648, rs752745051 N/A
Immunodeficiency Immunodeficiency, common variable, 15 rs1553721236 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Prostate cancer Prostate cancer (late onset), Prostate cancer N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
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