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SEC61A1 (SEC61 translocon subunit alpha 1)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
29927
Gene nameGene Name - the full gene name approved by the HGNC.
SEC61 translocon subunit alpha 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SEC61A1
SynonymsGene synonyms aliases
ADTKD5, CVID15, HNFJ4, HSEC61, SEC61, SEC61A
ChromosomeChromosome number
3
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q21.3
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005048 Function Signal sequence binding IBA 21873635
GO:0005262 Function Calcium channel activity IMP 28782633
GO:0005515 Function Protein binding IPI 22314232, 22796945, 29568061
GO:0005784 Component Sec61 translocon complex IBA 21873635
GO:0005789 Component Endoplasmic reticulum membrane IDA 27392076
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Sequence
Sequence length 476
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
  Protein export
Protein processing in endoplasmic reticulum
Phagosome
Vibrio cholerae infection 		 
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term 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
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
Unknown
Disease name Disease term dbSNP ID References
Cystic kidney disease Cystic Kidney Diseases 27392076
Dwarfism Dwarfism
Glomerulosclerosis Focal glomerulosclerosis
Gout Gout

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