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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

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