SEC61A1 SEC61 translocon subunit alpha 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SEC61A1provided by HGNC
Official Full Name: SEC61 translocon subunit alpha 1provided by HGNC
Primary source: HGNC:HGNC:18276
See related: Ensembl:ENSG00000058262 MIM:609213; AllianceGenome:HGNC:18276
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HNFJ4; SEC61; ADTKD5; CVID15; HSEC61; SEC61A
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-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 81.0), placenta (RPKM 70.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q21.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (128051641..128071683)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (130786219..130806258)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (127770484..127790526)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenylbutyrate rescues the transport defect of the Sec61alpha mutations V67G and T185A for renin.
Title: Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin.
An alternative pathway for membrane protein biogenesis at the endoplasmic reticulum.
Title: An alternative pathway for membrane protein biogenesis at the endoplasmic reticulum.
Defective Sec61alpha1 underlies a novel cause of autosomal dominant severe congenital neutropenia.
Title: Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia.
Structure of the Inhibited State of the Sec Translocon.
Title: Structure of the Inhibited State of the Sec Translocon.
Sec61alpha measurement has not an additional prognostic benefit for esophageal cancer patients.
Title: Aberrant expression of Sec61α in esophageal cancers.
SEC61A1-V85D triggered the terminal unfolded protein response in multiple myeloma cell lines.
Title: Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1).
An mH segment in a nascent chain was cross-linked to the Sec61alpha pore-interior positions at TM5 and TM10, as well as the lateral gate.
Title: Interaction mapping of the Sec61 translocon identifies two Sec61α regions interacting with hydrophobic segments in translocating chains.
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.
Shows that inhibition of Sec61 by mycolactone drives rapid and broad translational reprogramming of a subset of genes involved in stress responses that is initially protective but ultimately leads to cell death
Title: Inhibition of Sec61-dependent translocation by mycolactone uncouples the integrated stress response from ER stress, driving cytotoxicity via translational activation of ATF4.
Unpicking the central dogma of molecular biology step-by-step identifies the Sec61 translocon as the target of anti-inflammatory activity of mycolactone, explaining why production of Sec61-dependent proteins (secretory, ER resident and membrane bound) is lost even though transcription and translation are unaffected.
Title: The pathogenic mechanism of the Mycobacterium ulcerans virulence factor, mycolactone, depends on blockade of protein translocation into the ER.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hyperuricemic nephropathy, familial juvenile type 4 MedGen: C4310741 OMIM: 617056 GeneReviews: Not available	Compare labs
Immunodeficiency, common variable, 15 MedGen: CN375956 OMIM: 620670 GeneReviews: Not available	not available
Neutropenia, severe congenital, 11, autosomal dominant MedGen: CN375957 OMIM: 620674 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Tandem affinity purification and mass spectrometry analysis identify Sec61 alpha 1 subunit (SEC61A1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
	env	HIV-1 gp120 is identified to have a physical interaction with Sec61 alpha 1 subunit (SEC61A1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 is identified to have a physical interaction with Sec61 alpha 1 subunit (SEC61A1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
Gag-Pol	gag-pol	Tandem affinity purification and mass spectrometry analysis identify Sec61 alpha 1 subunit (SEC61A1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Nef	nef	Tandem affinity purification and mass spectrometry analysis identify Sec61 alpha 1 subunit (SEC61A1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Pr55(Gag)	gag	Tandem affinity purification and mass spectrometry analysis identify Sec61 alpha 1 subunit (SEC61A1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D3S4244 (e-PCR)
- UniSTS:57420

RH98730 (e-PCR)
- UniSTS:88148

SHGC-77295 (e-PCR)
- UniSTS:68474

SHGC-33998 (e-PCR)
- UniSTS:48300

SHGC-77312 (e-PCR)
- UniSTS:11973

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
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	ISS Inferred from Sequence or Structural Similarity more info
enables signal sequence binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within SRP-dependent cotranslational protein targeting to membrane	IMP Inferred from Mutant Phenotype 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
involved_in cotranslational protein targeting to membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in cotranslational protein targeting to membrane	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endoplasmic reticulum organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within post-translational protein targeting to endoplasmic reticulum membrane	IMP Inferred from Mutant Phenotype 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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pronephric nephron development	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein insertion into ER membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in protein targeting to ER	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	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein transport protein Sec61 subunit alpha isoform 1

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

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.