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    SEC24A SEC24 homolog A, COPII coat complex component [ Homo sapiens (human) ]

    Gene ID: 10802, updated on 3-Apr-2024

    Summary

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    Official Symbol
    SEC24Aprovided by HGNC
    Official Full Name
    SEC24 homolog A, COPII coat complex componentprovided by HGNC
    Primary source
    HGNC:HGNC:10703
    See related
    Ensembl:ENSG00000113615 MIM:607183; AllianceGenome:HGNC:10703
    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 belongs to a family of proteins that are homologous to yeast Sec24. This protein is a component of coat protein II (COPII)-coated vesicles that mediate protein transport from the endoplasmic reticulum. COPII acts in the cytoplasm to promote the transport of secretory, plasma membrane, and vacuolar proteins from the endoplasmic reticulum to the golgi complex. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
    Expression
    Ubiquitous expression in small intestine (RPKM 10.1), duodenum (RPKM 10.0) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See SEC24A in Genome Data Viewer
    Location:
    5q31.1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (134648382..134727909)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (135172809..135253535)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (133984475..134063599)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene secretion associated Ras related GTPase 1B Neighboring gene HNF4 motif-containing MPRA enhancer 267 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16366 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:133968413-133968969 Neighboring gene RNA, U6 small nuclear 1311, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23159 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:133984123-133984660 Neighboring gene U7 small nuclear RNA Neighboring gene ReSE screen-validated silencer GRCh37_chr5:134026455-134026653 Neighboring gene RNA, U6 small nuclear 1164, pseudogene Neighboring gene RNA, U6 small nuclear 757, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr5:134064440-134064607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23161 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23162 Neighboring gene calcium modulating ligand Neighboring gene DEAD-box helicase 46 Neighboring gene ribosomal protein L34 pseudogene 13

    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
    • 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. A Brucella abortus cstA mutant is defective for association with endoplasmic reticulum exit sites and displays altered trafficking in HeLa cells. de Barsy M, et al. Microbiology (Reading), 2012 Oct. PMID 22820839
    2. Role of Sec24 isoforms in selective export of membrane proteins from the endoplasmic reticulum. Wendeler MW, et al. EMBO Rep, 2007 Mar. PMID 17255961, Free PMC Article
    3. Kv1.3 contains an alternative C-terminal ER exit motif and is recruited into COPII vesicles by Sec24a. Spear JM, et al. BMC Biochem, 2015 Jul 10. PMID 26156069, Free PMC Article
    4. Selective inhibition of protein secretion by abrogating receptor-coat interactions during ER export. Gomez-Navarro N, et al. Proc Natl Acad Sci U S A, 2022 Aug 2. PMID 35901214, Free PMC Article
    5. CircRNA circ_SEC24A upregulates DNMT3A expression by sponging miR-26b-5p to aggravate osteoarthritis progression. Zhang Z, et al. Int Immunopharmacol, 2021 Oct. PMID 34325283

    See all (75) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Selective inhibition of protein secretion by abrogating receptor-coat interactions during ER export.
      Title: Selective inhibition of protein secretion by abrogating receptor-coat interactions during ER export.
    2. CircRNA circ_SEC24A upregulates DNMT3A expression by sponging miR-26b-5p to aggravate osteoarthritis progression.
      Title: CircRNA circ_SEC24A upregulates DNMT3A expression by sponging miR-26b-5p to aggravate osteoarthritis progression.
    3. The role of the C-terminal domain of PCSK9 and SEC24 isoforms in PCSK9 secretion.
      Title: The role of the C-terminal domain of PCSK9 and SEC24 isoforms in PCSK9 secretion.
    4. the association between Kv1.3 and the COPII cargo adaptor subunit isoform Sec24a
      Title: Kv1.3 contains an alternative C-terminal ER exit motif and is recruited into COPII vesicles by Sec24a.
    5. CstA, a secreted Brucella protein specifically interacts with human Sec24A.
      Title: A Brucella abortus cstA mutant is defective for association with endoplasmic reticulum exit sites and displays altered trafficking in HeLa cells.
    6. Sec24 isoforms expand the repertoire of cargo for signal-mediated ER export, but are in part functionally redundant.
      Title: Role of Sec24 isoforms in selective export of membrane proteins from the endoplasmic reticulum.
    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 SNARE binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in COPII-coated vesicle cargo loading IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in COPII-coated vesicle cargo loading IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cholesterol homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of protein secretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cholesterol transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of COPII vesicle coat IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of COPII vesicle coat IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ER to Golgi transport vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in endoplasmic reticulum exit site IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    protein transport protein Sec24A
    Names
    SEC24 family, member A
    SEC24 related gene family, member A
    SEC24-related protein A

    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_001252231.2 → NP_001239160.1  protein transport protein Sec24A isoform 2

      See identical proteins and their annotated locations for NP_001239160.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks several exons from the 3' end, and contains an alternate 3' terminal exon compared to variant 1. This results in a shorter isoform (2) with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK304060, BC019341
      Consensus CDS
      CCDS58967.1
      UniProtKB/Swiss-Prot
      O95486
      UniProtKB/TrEMBL
      B4E205
      Related
      ENSP00000321749.4, ENST00000322887.8
      Conserved Domains (3) summary
      pfam04810
      Location:428 → 464
      zf-Sec23_Sec24; Sec23/Sec24 zinc finger
      pfam15834
      Location:92 → 143
      THEG4; Testis highly expressed protein 4
      cl00057
      Location:501 → 595
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    2. NM_021982.3 → NP_068817.1  protein transport protein Sec24A isoform 1

      See identical proteins and their annotated locations for NP_068817.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AJ131244, AK304060, BC019341, BM127845, CD677660
      Consensus CDS
      CCDS43363.1
      UniProtKB/Swiss-Prot
      A8MVW3, O95486, Q8WUV2, Q96GP7
      Related
      ENSP00000381823.2, ENST00000398844.7
      Conserved Domains (7) summary
      COG5028
      Location:237 → 1093
      COG5028; Vesicle coat complex COPII, subunit SEC24/subunit SFB2/subunit SFB3 [Intracellular trafficking and secretion]
      cd01479
      Location:501 → 743
      Sec24-like; Sec24-like: Protein and membrane traffic in eukaryotes is mediated by at least in part by the budding and fusion of intracellular transport vesicles that selectively carry cargo proteins and lipids from donor to acceptor organelles. The two main classes ...
      pfam00626
      Location:964 → 1039
      Gelsolin; Gelsolin repeat
      pfam04810
      Location:428 → 464
      zf-Sec23_Sec24; Sec23/Sec24 zinc finger
      pfam04815
      Location:843 → 938
      Sec23_helical; Sec23/Sec24 helical domain
      pfam08033
      Location:744 → 828
      Sec23_BS; Sec23/Sec24 beta-sandwich domain
      pfam15834
      Location:92 → 158
      THEG4; Testis highly expressed protein 4

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      134648382..134727909
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008961.3 → XP_016864450.1  protein transport protein Sec24A isoform X1

    2. XM_047416648.1 → XP_047272604.1  protein transport protein Sec24A isoform X3

    3. XM_006714523.3 → XP_006714586.1  protein transport protein Sec24A isoform X2

      Conserved Domains (7) summary
      COG5028
      Location:172 → 1035
      COG5028; Vesicle coat complex COPII, subunit SEC24/subunit SFB2/subunit SFB3 [Intracellular trafficking and secretion]
      cd01479
      Location:443 → 685
      Sec24-like; Sec24-like: Protein and membrane traffic in eukaryotes is mediated by at least in part by the budding and fusion of intracellular transport vesicles that selectively carry cargo proteins and lipids from donor to acceptor organelles. The two main classes ...
      pfam00626
      Location:906 → 981
      Gelsolin; Gelsolin repeat
      pfam04810
      Location:370 → 406
      zf-Sec23_Sec24; Sec23/Sec24 zinc finger
      pfam04815
      Location:785 → 880
      Sec23_helical; Sec23/Sec24 helical domain
      pfam08033
      Location:686 → 770
      Sec23_BS; Sec23/Sec24 beta-sandwich domain
      pfam15834
      Location:92 → 158
      THEG4; Testis highly expressed protein 4

    4. XM_047416649.1 → XP_047272605.1  protein transport protein Sec24A isoform X4

    5. XM_017008963.3 → XP_016864452.1  protein transport protein Sec24A isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      135172809..135253535
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351469.1 → XP_054207444.1  protein transport protein Sec24A isoform X1

    2. XM_054351471.1 → XP_054207446.1  protein transport protein Sec24A isoform X3

    3. XM_054351470.1 → XP_054207445.1  protein transport protein Sec24A isoform X2

    4. XM_054351472.1 → XP_054207447.1  protein transport protein Sec24A isoform X4

    5. XM_054351473.1 → XP_054207448.1  protein transport protein Sec24A isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95486.2 GenPept UniProtKB/Swiss-Prot:O95486

    Gene LinkOut

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