U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

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

    Gene ID: 55176, updated on 5-Mar-2024

    Summary

    Go to the top of the page Help
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See SEC61A2 in Genome Data Viewer
    Location:
    10p14
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (12129641..12169958)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (12140919..12181232)
    105.20220307 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

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    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. 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
    3. 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
    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 (32) 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

    Go to the top of the page Help

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Potential readthrough

    Included gene: DHTKD1

    Homology

    Clone Names

    • FLJ10578

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    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 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 biological_process ND
    No biological Data available
    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

    Go to the top of the page Help
    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)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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_2023_10

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Other Literature Sources
    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous