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    Sec23a SEC23 homolog A, COPII coat complex component [ Mus musculus (house mouse) ]

    Gene ID: 20334, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Sec23aprovided by MGI
    Official Full Name
    SEC23 homolog A, COPII coat complex componentprovided by MGI
    Primary source
    MGI:MGI:1349635
    See related
    Ensembl:ENSMUSG00000020986 AllianceGenome:MGI:1349635
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Msec23; Sec23r
    Summary
    Predicted to enable GTPase activator activity and zinc ion binding activity. Involved in protein localization to plasma membrane. Located in COPII-coated ER to Golgi transport vesicle; Golgi membrane; and perinuclear region of cytoplasm. Is expressed in central nervous system; craniocervical region bone; retina; and thoracic segment skeleton. Human ortholog(s) of this gene implicated in craniolenticulosutural dysplasia. Orthologous to human SEC23A (SEC23 homolog A, COPII coat complex component). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in placenta adult (RPKM 26.3), limb E14.5 (RPKM 22.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Sec23a in Genome Data Viewer
    Location:
    12 C1; 12 25.97 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (59005170..59058803, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (58958384..59012017, complement)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 pseudogene Neighboring gene STARR-seq mESC enhancer starr_32238 Neighboring gene STARR-seq mESC enhancer starr_32241 Neighboring gene STARR-positive B cell enhancer mm9_chr12:60021773-60022074 Neighboring gene STARR-seq mESC enhancer starr_32242 Neighboring gene PRELI domain containing 1 pseudogene Neighboring gene STARR-seq mESC enhancer starr_32243 Neighboring gene STARR-seq mESC enhancer starr_32244 Neighboring gene STARR-positive B cell enhancer ABC_E1154 Neighboring gene STARR-positive B cell enhancer ABC_E10751 Neighboring gene STARR-positive B cell enhancer mm9_chr12:60138923-60139223 Neighboring gene STARR-positive B cell enhancer mm9_chr12:60139247-60139547 Neighboring gene gem nuclear organelle associated protein 2 Neighboring gene predicted gene, 22973

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Identification and differential expression of yeast SEC23-related gene (Msec23) in mouse tissues. Wadhwa R, et al. FEBS Lett, 1993 Jan 4. PMID 8417978
    2. Activation of cytokine genes in T cells during primary and secondary murine influenza pneumonia. Carding SR, et al. J Exp Med, 1993 Feb 1. PMID 8426116, Free PMC Article
    3. Sterols block binding of COPII proteins to SCAP, thereby controlling SCAP sorting in ER. Espenshade PJ, et al. Proc Natl Acad Sci U S A, 2002 Sep 3. PMID 12193656, Free PMC Article
    4. p125 is a novel mammalian Sec23p-interacting protein with structural similarity to phospholipid-modifying proteins. Tani K, et al. J Biol Chem, 1999 Jul 16. PMID 10400679
    5. Molecular basis of Williams-Beuren syndrome: TFII-I regulated targets involved in craniofacial development. Makeyev AV, et al. Cleft Palate Craniofac J, 2011 Jan. PMID 20500075

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SEC23A Inhibit Melanoma Metastatic through Secretory PF4 Cooperation with SPARC to Inhibit MAPK Signaling Pathway.
      Title: SEC23A Inhibit Melanoma Metastatic through Secretory PF4 Cooperation with SPARC to Inhibit MAPK Signaling Pathway.
    2. these data demonstrate an equivalent function for SEC23A/B, with evolutionary shifts in the transcription program likely accounting for the distinct phenotypes of SEC23A/B deficiency within and across species, a paradigm potentially applicable to other sets of paralogous genes.
      Title: Functions of the COPII gene paralogs SEC23A and SEC23B are interchangeable in vivo.
    3. This study also validated the interaction between HAP1 and Sec23A using co-immunoprecipitation experiments with endogenous proteins. This manuscript also reports on the high confidence interacting partners of HAP1 identified by the non-biased approach used in this study, which interestingly, consists of predominantly trafficking-related proteins
      Title: Huntingtin-associated protein-1 (HAP1) regulates endocytosis and interacts with multiple trafficking-related proteins.
    4. results suggest that mammalian SEC23A and SEC23B transport overlapping yet distinct spectra of cargo in vivo
      Title: Neural tube opening and abnormal extraembryonic membrane development in SEC23A deficient mice.
    5. Sec23a contains consensus TFII-I binding sites in the proximal promoters; the chromatin immunoprecipitation analysis showed that TFII-I transcription factors are recruited to these sites in vivo in Williams-Beuren syndrome.
      Title: Molecular basis of Williams-Beuren syndrome: TFII-I regulated targets involved in craniofacial development.
    6. Regulation of endoplasmic reticulum stress response by a BBF2H7-mediated Sec23a pathway is essential for chondrogenesis.
      Title: Regulation of endoplasmic reticulum stress response by a BBF2H7-mediated Sec23a pathway is essential for chondrogenesis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 
    • Targeted (1) 

    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 MGI

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables zinc ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in COPII-coated vesicle cargo loading ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within intracellular protein transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of COPII vesicle coat IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of COPII vesicle coat ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of COPII vesicle coat ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in COPII-coated ER to Golgi transport vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ER to Golgi transport vesicle membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in endoplasmic reticulum exit site IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum exit site ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum exit site ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein transport protein Sec23A
    Names
    SEC23-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_001361956.1 → NP_001348885.1  protein transport protein Sec23A

      Status: VALIDATED

      Source sequence(s)
      AC153654, AY082671, BY760439, BY778724, BY789138
      Consensus CDS
      CCDS25931.1
      UniProtKB/Swiss-Prot
      Q01405, Q8JZL4
      UniProtKB/TrEMBL
      Q8C1E4
      Conserved Domains (1) summary
      PLN00162
      Location:12 → 763
      PLN00162; transport protein sec23; Provisional

    2. NM_009147.2 → NP_033173.2  protein transport protein Sec23A

      See identical proteins and their annotated locations for NP_033173.2

      Status: VALIDATED

      Source sequence(s)
      AK028152, BC034610, BY760439
      Consensus CDS
      CCDS25931.1
      UniProtKB/Swiss-Prot
      Q01405, Q8JZL4
      UniProtKB/TrEMBL
      Q8C1E4
      Related
      ENSMUSP00000021375.6, ENSMUST00000021375.12
      Conserved Domains (1) summary
      PLN00162
      Location:12 → 763
      PLN00162; transport protein sec23; Provisional

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000078.7 Reference GRCm39 C57BL/6J

      Range
      59005170..59058803 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q01405.2 GenPept UniProtKB/Swiss-Prot:Q01405

    Gene LinkOut

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

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