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SEC61A2 SEC61 translocon subunit alpha 2 [ Homo sapiens (human) ]

Gene ID: 55176, updated on 10-Dec-2024

Summary

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Official Symbol
SEC61A2provided by HGNC
Official Full Name
SEC61 translocon subunit alpha 2provided by HGNC
Primary source
HGNC:HGNC:17702
See related
Ensembl:ENSG00000065665 MIM:618271; AllianceGenome:HGNC:17702
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 protein encoded by this gene has similarity to a mouse protein which suggests a role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. It may also be required for the assembly of membrane and secretory proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
Expression
Broad expression in brain (RPKM 12.8), testis (RPKM 10.0) and 24 other tissues See more
Orthologs
mouse all
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Genomic context

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See SEC61A2 in Genome Data Viewer
Location:
10p14
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (12129641..12169958)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (12140919..12181232)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (12171640..12211957)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2136 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2137 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3032 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3033 Neighboring gene dehydrogenase E1 and transketolase domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3035 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3036 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:12170601-12171480 Neighboring gene RNA, U6 small nuclear 88, pseudogene Neighboring gene small nucleolar RNA U13 Neighboring gene microRNA 548ak Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:12232077-12232927 Neighboring gene nudix hydrolase 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3037 Neighboring gene cell division cycle 123 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:12267705-12268640 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:12268641-12269574 Neighboring gene FOXA motif-containing MPRA enhancer 241 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2139 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:12306176-12306714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:12365022-12365522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:12365523-12366023 Neighboring gene RNA, 7SL, cytoplasmic 198, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. Control of translocation through the Sec61 translocon by nascent polypeptide structure within the ribosome. Daniel CJ, et al. J Biol Chem, 2008 Jul 25. PMID 18480044, Free PMC Article
  2. Calnexin and other factors that alter translocation affect the rapid binding of ubiquitin to apoB in the Sec61 complex. Chen Y, et al. J Biol Chem, 1998 May 8. PMID 9565615
  3. The Sec61 complex is located in both the ER and the ER-Golgi intermediate compartment. Greenfield JJ, et al. J Cell Sci, 1999 May. PMID 10212142
  4. The role of assembly in insulin's biosynthesis. Dodson G, et al. Curr Opin Struct Biol, 1998 Apr. PMID 9631292
  5. TNIP1 inhibits selective autophagy via bipartite interaction with LC3/GABARAP and TAX1BP1. Le Guerroué F, et al. Mol Cell, 2023 Mar 16. PMID 36898370, Free PMC Article

See all (38) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
Submit: New GeneRIF Correction

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

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

Potential readthrough

Included gene: DHTKD1

Homology

Clone Names

  • FLJ10578

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 signal sequence binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
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
  
Component Evidence Code Pubs
part_of Sec61 translocon complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
protein transport protein Sec61 subunit alpha isoform 2
Names
SEC61 translocon alpha 2 subunit
Sec61 alpha 2 subunit
Sec61 alpha form 2
protein transport protein Sec61 subunit alpha
sec61 alpha-2

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.

mRNA and Protein(s)

  1. NM_001142627.3 → NP_001136099.1  protein transport protein Sec61 subunit alpha isoform 2 isoform c

    See identical proteins and their annotated locations for NP_001136099.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate exon in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform c) with a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AK022640, AK057532, AK292295, BC026179, BP212860
    Consensus CDS
    CCDS44358.1
    UniProtKB/TrEMBL
    B3KQ68
    Related
    ENSP00000302048.8, ENST00000304267.12
    Conserved Domains (1) summary
    PTZ00219
    Location:1 → 415
    PTZ00219; Sec61 alpha subunit; Provisional

  2. NM_001142628.1 → NP_001136100.1  protein transport protein Sec61 subunit alpha isoform 2 isoform b

    See identical proteins and their annotated locations for NP_001136100.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the coding region, compared to variant 1. Isoform b is shorter, compared to isoform a.
    Source sequence(s)
    AC073160, AK301841, BC026179, BP212860, BX645143
    Consensus CDS
    CCDS44359.1
    UniProtKB/TrEMBL
    A0A8V8TMZ5
    Related
    ENSP00000368319.3, ENST00000379033.7
    Conserved Domains (1) summary
    PTZ00219
    Location:1 → 447
    PTZ00219; Sec61 alpha subunit; Provisional

  3. NM_018144.4 → NP_060614.2  protein transport protein Sec61 subunit alpha isoform 2 isoform a

    See identical proteins and their annotated locations for NP_060614.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC073160, AK292295, BC026179, BP212860, BX645143
    Consensus CDS
    CCDS7088.1
    UniProtKB/Swiss-Prot
    A8K8D0, B4DX72, F8W773, Q9H9S3
    UniProtKB/TrEMBL
    A0A8V8TMZ5
    Related
    ENSP00000298428.9, ENST00000298428.14
    Conserved Domains (1) summary
    PTZ00219
    Location:1 → 469
    PTZ00219; Sec61 alpha subunit; Provisional

RNA

  1. NR_024576.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains alternate 3' exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK057532, BC026179, BP212860
    Related
    ENST00000475268.5

  2. NR_024577.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains alternate internal and 3' exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK057532, BC026179, BP212860
    Related
    ENST00000495368.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    12129641..12169958
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    12140919..12181232
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H9S3.3 GenPept UniProtKB/Swiss-Prot:Q9H9S3

Gene LinkOut

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