Sec61a1 SEC61 translocon subunit alpha 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sec61a1provided by MGI
Official Full Name: SEC61 translocon subunit alpha 1provided by MGI
Primary source: MGI:MGI:1858417
See related: Ensembl:ENSMUSG00000030082 AllianceGenome:MGI:1858417
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Sec61a
Summary: Enables ribosome binding activity and transmembrane transporter activity. Involved in pronephric nephron development. Predicted to be located in endoplasmic reticulum membrane. Predicted to be part of Sec61 translocon complex. Is expressed in cerebral cortex; jaw; skeleton; and vibrissa. Human ortholog(s) of this gene implicated in common variable immunodeficiency; familial juvenile hyperuricemic nephropathy; and severe congenital neutropenia. Orthologous to human SEC61A1 (SEC61 translocon subunit alpha 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in ovary adult (RPKM 174.0), large intestine adult (RPKM 157.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 D1; 6 39.51 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (88480589..88495782, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (88503607..88518800, complement)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dynamics of triadin, a muscle-specific triad protein, within sarcoplasmic reticulum subdomains.
Title: Dynamics of triadin, a muscle-specific triad protein, within sarcoplasmic reticulum subdomains.
Nogo-C regulates cardiac fibrosis through interacting with Sec61alpha to mediate the Ca(2+) leakage from endoplasmic reticulum.
Title: Nogo-C regulates post myocardial infarction fibrosis through the interaction with ER Ca(2+) leakage channel Sec61α in mouse hearts.
Sec61 blockade induces proteostatic stress in the cytosol and the endoplasmic reticulum.
Title: Proteomics Reveals Scope of Mycolactone-mediated Sec61 Blockade and Distinctive Stress Signature.
The direct contribution of Sec61 to antigen cross-presentation, endosome-to-cytosol export, and endoplasmic reticulum-to-cytosol export.
Title: Sec61 blockade by mycolactone inhibits antigen cross-presentation independently of endosome-to-cytosol export.
Interaction of ribosomes and Sec62 with the core Sec61 translocon is mutually exclusive.
Title: Mammalian SRP receptor switches the Sec61 translocase from Sec62 to SRP-dependent translocation.
SEC61A1 gene silencing inhibits co- and post-translational transport of presecretory proteins into endoplasmic reticulum.
Title: Different effects of Sec61α, Sec62 and Sec63 depletion on transport of polypeptides into the endoplasmic reticulum of mammalian cells.
Diabetes can bemapped to a point mutation in the Sec61a1 gene that encodes a His to Tyr substitution at amino acid 344.
Title: A point mutation in Sec61alpha1 leads to diabetes and hepatosteatosis in mice.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH125916 (e-PCR)
- UniSTS:162635

RH124708 (e-PCR)
- UniSTS:161530

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium channel activity	ISO Inferred from Sequence Orthology more info
enables calcium channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables ribosome binding	IBA Inferred from Biological aspect of Ancestor more info
enables ribosome binding	IDA Inferred from Direct Assay more info	PubMed
enables ribosome binding	ISO Inferred from Sequence Orthology more info
enables signal sequence binding	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane transporter activity	EXP Inferred from Experiment more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within SRP-dependent cotranslational protein targeting to membrane	ISO Inferred from Sequence Orthology more info	PubMed
involved_in SRP-dependent cotranslational protein targeting to membrane, translocation	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell growth	ISO Inferred from Sequence Orthology more info	PubMed
involved_in cotranslational protein targeting to membrane	ISO Inferred from Sequence Orthology more info
involved_in cotranslational protein targeting to membrane	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within endoplasmic reticulum organization	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within post-translational protein targeting to endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info	PubMed
involved_in post-translational protein targeting to membrane, translocation	IBA Inferred from Biological aspect of Ancestor more info
involved_in post-translational protein targeting to membrane, translocation	ISO Inferred from Sequence Orthology more info
involved_in post-translational protein targeting to membrane, translocation	ISS Inferred from Sequence or Structural Similarity more info
involved_in pronephric nephron development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein insertion into ER membrane	ISO Inferred from Sequence Orthology more info
involved_in protein insertion into ER membrane	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of Sec61 translocon complex	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	ISO Inferred from Sequence Orthology more info	PubMed
located_in phagocytic vesicle membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: protein transport protein Sec61 subunit alpha isoform 1

Names: SEC61, alpha subunit; Sec61 alpha 1 subunit; protein transport protein Sec61 subunit alpha; sec61 alpha-1; transport protein sec61 alpha subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.