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    SEC22A SEC22 homolog A, vesicle trafficking protein [ Homo sapiens (human) ]

    Gene ID: 26984, updated on 3-Nov-2024

    Summary

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    Official Symbol
    SEC22Aprovided by HGNC
    Official Full Name
    SEC22 homolog A, vesicle trafficking proteinprovided by HGNC
    Primary source
    HGNC:HGNC:20260
    See related
    Ensembl:ENSG00000121542 MIM:612442; AllianceGenome:HGNC:20260
    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
    SEC22L2
    Summary
    The protein encoded by this gene belongs to the member of the SEC22 family of vesicle trafficking proteins. This protein has similarity to rat SEC22 and may act in the early stages of the secretory pathway. [provided by RefSeq, Nov 2008]
    Expression
    Ubiquitous expression in testis (RPKM 4.5), thyroid (RPKM 2.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SEC22A in Genome Data Viewer
    Location:
    3q21.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (123201943..123274136)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (125922006..125994223)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (122920790..122992983)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:122632187-122632687 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:122645367-122645867 Neighboring gene semaphorin 5B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:122693322-122694086 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:122694087-122694852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20389 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:122701773-122702273 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:122739281-122739946 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:122739947-122740611 Neighboring gene NANOG hESC enhancer GRCh37_chr3:122747214-122747721 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:122752890-122753444 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14646 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:122803094-122803728 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:122803729-122804364 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:122817925-122818646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:122829483-122829983 Neighboring gene protein disulfide isomerase family A member 5 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:122872975-122873475 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:122875517-122876016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20391 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20392 Neighboring gene microRNA 7110 Neighboring gene MPRA-validated peak4799 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr3:123014237-123014442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:123028841-123029342 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:123033477-123034370 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:123034371-123035262 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:123038080-123038986 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:123038987-123039893 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:123047195-123047696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:123047697-123048196 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:123049418-123050205 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:123062389-123063058 Neighboring gene adenylate cyclase 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:123068286-123068786 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:123069872-123070850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:123104604-123105104 Neighboring gene uncharacterized LOC124909420 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:123105105-123105605 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:123130683-123131208 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:123132020-123132563 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:123166099-123166998 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:123178428-123178928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:123178929-123179429 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14647 Neighboring gene 3-hydroxyacyl-CoA dehydratase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14648 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14649

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. Hsec22c: a homolog of yeast Sec22p and mammalian rsec22a and msec22b/ERS-24. Tang BL, et al. Biochem Biophys Res Commun, 1998 Feb 24. PMID 9501016
    2. Mammalian vesicle trafficking proteins of the endoplasmic reticulum and Golgi apparatus. Hay JC, et al. J Biol Chem, 1996 Mar 8. PMID 8621431
    3. Sequential tethering of Golgins and catalysis of SNAREpin assembly by the vesicle-tethering protein p115. Shorter J, et al. J Cell Biol, 2002 Apr 1. PMID 11927603, Free PMC Article
    4. Protein interactions regulating vesicle transport between the endoplasmic reticulum and Golgi apparatus in mammalian cells. Hay JC, et al. Cell, 1997 Apr 4. PMID 9094723
    5. The transport signal on Sec22 for packaging into COPII-coated vesicles is a conformational epitope. Mancias JD, et al. Mol Cell, 2007 May 11. PMID 17499046

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. The 200 kDa crystal structure of Sec22 bound to Sec23/24 reveals that the transport signal is a folded epitope rather than a conventional short peptide sequence.
      Title: The transport signal on Sec22 for packaging into COPII-coated vesicles is a conformational epitope.
    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)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SNAP receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in membrane fusion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    vesicle-trafficking protein SEC22a
    Names
    SEC22 vesicle trafficking protein homolog A
    SEC22 vesicle trafficking protein-like 2

    NCBI Reference Sequences (RefSeq)

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    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_012430.5 → NP_036562.2  vesicle-trafficking protein SEC22a

      See identical proteins and their annotated locations for NP_036562.2

      Status: REVIEWED

      Source sequence(s)
      AC112503, BC007122, BG613364, BX118915
      Consensus CDS
      CCDS3021.1
      UniProtKB/Swiss-Prot
      B2RE26, Q96IW7, Q9Y682
      UniProtKB/TrEMBL
      B3KQ76
      Related
      ENSP00000417972.1, ENST00000492595.6
      Conserved Domains (1) summary
      cd14824
      Location:5 → 126
      Longin; longin domain

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      123201943..123274136
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512675.4 → XP_011510977.1  vesicle-trafficking protein SEC22a isoform X1

      See identical proteins and their annotated locations for XP_011510977.1

      UniProtKB/Swiss-Prot
      B2RE26, Q96IW7, Q9Y682
      UniProtKB/TrEMBL
      B3KQ76
      Related
      ENSP00000420343.2, ENST00000473494.6
      Conserved Domains (1) summary
      cd14824
      Location:5 → 126
      Longin; longin domain

    2. XM_011512676.4 → XP_011510978.1  vesicle-trafficking protein SEC22a isoform X1

      See identical proteins and their annotated locations for XP_011510978.1

      UniProtKB/Swiss-Prot
      B2RE26, Q96IW7, Q9Y682
      UniProtKB/TrEMBL
      B3KQ76
      Conserved Domains (1) summary
      cd14824
      Location:5 → 126
      Longin; longin domain

    3. XM_011512673.4 → XP_011510975.1  vesicle-trafficking protein SEC22a isoform X1

      See identical proteins and their annotated locations for XP_011510975.1

      UniProtKB/Swiss-Prot
      B2RE26, Q96IW7, Q9Y682
      UniProtKB/TrEMBL
      B3KQ76
      Conserved Domains (1) summary
      cd14824
      Location:5 → 126
      Longin; longin domain

    4. XM_047447958.1 → XP_047303914.1  vesicle-trafficking protein SEC22a isoform X1

      UniProtKB/Swiss-Prot
      B2RE26, Q96IW7, Q9Y682

    5. XM_047447957.1 → XP_047303913.1  vesicle-trafficking protein SEC22a isoform X1

      UniProtKB/Swiss-Prot
      B2RE26, Q96IW7, Q9Y682
      Related
      ENSP00000310521.4, ENST00000309934.4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      125922006..125994223
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346154.1 → XP_054202129.1  vesicle-trafficking protein SEC22a isoform X2

    2. XM_054346151.1 → XP_054202126.1  vesicle-trafficking protein SEC22a isoform X1

      UniProtKB/Swiss-Prot
      B2RE26, Q96IW7, Q9Y682

    3. XM_054346152.1 → XP_054202127.1  vesicle-trafficking protein SEC22a isoform X1

      UniProtKB/Swiss-Prot
      B2RE26, Q96IW7, Q9Y682

    4. XM_054346153.1 → XP_054202128.1  vesicle-trafficking protein SEC22a isoform X1

      UniProtKB/Swiss-Prot
      B2RE26, Q96IW7, Q9Y682

    5. XM_054346150.1 → XP_054202125.1  vesicle-trafficking protein SEC22a isoform X1

      UniProtKB/Swiss-Prot
      B2RE26, Q96IW7, Q9Y682

    6. XM_054346149.1 → XP_054202124.1  vesicle-trafficking protein SEC22a isoform X1

      UniProtKB/Swiss-Prot
      B2RE26, Q96IW7, Q9Y682
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96IW7.1 GenPept UniProtKB/Swiss-Prot:Q96IW7

    Gene LinkOut

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

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