Gene Gene information from NCBI Gene database.
Entrez ID 29927
Gene name SEC61 translocon subunit alpha 1
Gene symbol SEC61A1
Synonyms (NCBI Gene)
ADTKD5CVID15HNFJ4HSEC61SEC61SEC61A
Chromosome 3
Chromosome location 3q21.3
Summary 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.
3
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.
940
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609213 18276 ENSG00000058262
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
28
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Decreased circulating immunoglobulin concentration Likely pathogenic rs1553721236 RCV000664064
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial prostate cancer Pathogenic rs879255648 RCV005891086
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperuricemic nephropathy, familial juvenile type 4 Pathogenic; Likely pathogenic rs2107641650, rs2473020544, rs879255648, rs752745051 RCV002250342
RCV002471308
RCV000239594
RCV000239508
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency, common variable, 15 Pathogenic; Likely pathogenic rs2473045892, rs1553721236 RCV003482899
RCV003482295
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal dominant polycystic liver disease Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 30362161
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia Pubtator 28782633 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 27392076
★☆☆☆☆
Found in Text Mining only
Anemia Anemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Buruli Ulcer Buruli Ulcer BEFREE 30055020
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36524514 Associate
★☆☆☆☆
Found in Text Mining only
Chronic Kidney Diseases Kidney Disease BEFREE 27392076
★☆☆☆☆
Found in Text Mining only
Chronic Kidney Diseases Kidney Disease GENOMICS_ENGLAND_DG 27392076
★☆☆☆☆
Found in Text Mining only
Chronic Kidney Diseases Kidney Disease HPO_DG
★☆☆☆☆
Found in Text Mining only
Common Variable Immunodeficiency Common variable immunodeficiency Pubtator 32325141 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations