SEC61B SEC61 translocon subunit beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: SEC61Bprovided by HGNC
Official Full Name: SEC61 translocon subunit betaprovided by HGNC
Primary source: HGNC:HGNC:16993
See related: Ensembl:ENSG00000106803 MIM:609214; AllianceGenome:HGNC:16993
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
Summary: The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. Oligomers of the Sec61 complex form a transmembrane channel where proteins are translocated across and integrated into the ER membrane. This complex consists of three membrane proteins- alpha, beta, and gamma. This gene encodes the beta-subunit protein. The Sec61 subunits are also observed in the post-ER compartment, suggesting that these proteins can escape the ER and recycle back. There is evidence for multiple polyadenylated sites for this transcript. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in adrenal (RPKM 68.2), appendix (RPKM 66.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q22.33

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (99222282..99230615)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (111393986..111402319)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (101984564..101992897)

Chromosome 9 - NC_000009.12 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?

Let-7b-5p is involved in the response of endoplasmic reticulum stress in acute pulmonary embolism through upregulating the expression of stress-associated endoplasmic reticulum protein 1.
Title: Let-7b-5p is involved in the response of endoplasmic reticulum stress in acute pulmonary embolism through upregulating the expression of stress-associated endoplasmic reticulum protein 1.
Sec61beta may stabilize protein translocation by linking translocon complex to microtubule and provide insight into the physiological function of ER-microtubule interaction
Title: Sec61β facilitates the maintenance of endoplasmic reticulum homeostasis by associating microtubules.
used whole exome sequencing in a discovery cohort of 102 unrelated patients who were excluded for mutations in the 2 most common polycystic liver disease genes, PRKCSH and SEC63, to identify heterozygous loss-of-function mutations in 3 additional genes, ALG8, GANAB, and SEC61B. Similarly to PRKCSH and SEC63, these genes encode proteins that are integral to the protein biogenesis pathway in the endoplasmic reticulum.
Title: Isolated polycystic liver disease genes define effectors of polycystin-1 function.
These data confirm that the exocyst is preferentially involved in basolateral protein translation and translocation, and may well act through the phosphorylation of Sec61beta.
Title: Exocyst Sec10 is involved in basolateral protein translation and translocation in the endoplasmic reticulum.
Sec61beta overexpression increased tight junction modulation rates, in conjunction with enhanced delivery of claudin-4 from and to plasma membranes.
Title: Sec61β regulates barrier functions of tight junction through expression of claudin-4 in Madin-Darby canine kidney cells.
Sec61beta-KD cells also exhibited altered ATP7A cellular distribution.
Title: Sec61β controls sensitivity to platinum-containing chemotherapeutic agents through modulation of the copper-transporting ATPase ATP7A.
SEC61beta and its autoantibody as biomarkers for colorectal cancer
Title: Identification of SEC61β and its autoantibody as biomarkers for colorectal cancer.
Sec61beta function provides an alternative pathway for nuclear transport that can be utilized by membrane-embedded proteins such as full-length EGFR.
Title: The translocon Sec61beta localized in the inner nuclear membrane transports membrane-embedded EGF receptor to the nucleus.
This indicates that EGF receptors are trafficked from the endoplasmic reticulum to the nucleus by a novel pathway that involves the Sec61 translocon.
Title: Role of the Sec61 translocon in EGF receptor trafficking to the nucleus and gene expression.

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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

EBI GWAS Catalog

Description
Genetics of callous-unemotional behavior in children. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D9S2083 (e-PCR)
- UniSTS:76954

WI-11370 (e-PCR)
- UniSTS:11166

SHGC-30916 (e-PCR)
- UniSTS:22263

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables epidermal growth factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables guanyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ribosome binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in ERAD pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in SRP-dependent cotranslational protein targeting to membrane, translocation	IBA Inferred from Biological aspect of Ancestor more info
involved_in post-translational protein targeting to membrane, translocation	IBA Inferred from Biological aspect of Ancestor more info
involved_in retrograde protein transport, ER to cytosol	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of Sec61 translocon complex	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
part_of endoplasmic reticulum Sec complex	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum quality control compartment	IDA Inferred from Direct Assay more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: protein transport protein Sec61 subunit beta

Names: SEC61 translocon beta subunit; Sec61 beta subunit; Sec61 complex, beta subunit; protein translocation complex beta; protein transport protein SEC61 beta 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.