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    Sec24d SEC24 homolog D, COPII coat complex component [ Mus musculus (house mouse) ]

    Gene ID: 69608, updated on 12-May-2024

    Summary

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    Official Symbol
    Sec24dprovided by MGI
    Official Full Name
    SEC24 homolog D, COPII coat complex componentprovided by MGI
    Primary source
    MGI:MGI:1916858
    See related
    Ensembl:ENSMUSG00000039234 AllianceGenome:MGI:1916858
    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
    Gm1349; 2310020L09Rik
    Summary
    Predicted to enable SNARE binding activity and zinc ion binding activity. Acts upstream of or within in utero embryonic development. Predicted to be located in intracellular membrane-bounded organelle. Predicted to be part of COPII vesicle coat. Predicted to be active in endoplasmic reticulum exit site. Is expressed in cerebral cortex; cerebral cortex marginal layer; and embryo. Human ortholog(s) of this gene implicated in Cole-Carpenter syndrome. Orthologous to human SEC24D (SEC24 homolog D, COPII coat complex component). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in adrenal adult (RPKM 64.8), duodenum adult (RPKM 50.4) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Sec24d in Genome Data Viewer
    Location:
    3 G1; 3 53.82 cM
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (123058451..123159290)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (123264801..123365641)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene myozenin 2 Neighboring gene STARR-seq mESC enhancer starr_08901 Neighboring gene predicted gene, 54182 Neighboring gene synaptopodin 2 Neighboring gene STARR-seq mESC enhancer starr_08902 Neighboring gene STARR-positive B cell enhancer ABC_E10211 Neighboring gene STARR-seq mESC enhancer starr_08903 Neighboring gene STARR-seq mESC enhancer starr_08904 Neighboring gene STARR-positive B cell enhancer mm9_chr3:123076377-123076678 Neighboring gene STARR-positive B cell enhancer mm9_chr3:123088670-123088971 Neighboring gene methyltransferase 14, N6-adenosine-methyltransferase subunit Neighboring gene predicted gene, 22713

    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. Disruption of the Sec24d gene results in early embryonic lethality in the mouse. Baines AC, et al. PLoS One, 2013. PMID 23596517, Free PMC Article
    2. Murine SEC24D can substitute functionally for SEC24C during embryonic development. Adams EJ, et al. Sci Rep, 2021 Oct 26. PMID 34702932, Free PMC Article
    3. Mammalian COPII coat component SEC24C is required for embryonic development in mice. Adams EJ, et al. J Biol Chem, 2014 Jul 25. PMID 24876386, Free PMC Article
    4. SEC24A deficiency lowers plasma cholesterol through reduced PCSK9 secretion. Chen XW, et al. Elife, 2013 Apr 9. PMID 23580231, Free PMC Article
    5. Planar cell polarity defects and defective Vangl2 trafficking in mutants for the COPII gene Sec24b. Wansleeben C, et al. Development, 2010 Apr. PMID 20215345

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Murine SEC24D can substitute functionally for SEC24C during embryonic development.
      Title: Murine SEC24D can substitute functionally for SEC24C during embryonic development.
    2. SEC24D is absolutely required for early embryonic development in the mouse, with complete deficiency resulting in uniform loss prior to the blastocyst stage.
      Title: Disruption of the Sec24d gene results in early embryonic lethality in the mouse.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Gene trapped (2) 
    • Targeted (3) 

    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 SNARE binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables SNARE binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables zinc ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables zinc ion binding ISO
    Inferred from Sequence Orthology
    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 endoplasmic reticulum to Golgi vesicle-mediated transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within in utero embryonic development 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
    		  
    is_active_in endoplasmic reticulum exit site IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    protein transport protein Sec24D
    Names
    Sec24 related gene family, member D

    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_027135.2 → NP_081411.2  protein transport protein Sec24D

      See identical proteins and their annotated locations for NP_081411.2

      Status: VALIDATED

      Source sequence(s)
      BC067020
      Consensus CDS
      CCDS38621.1
      UniProtKB/TrEMBL
      Q6NXL1
      Related
      ENSMUSP00000035823.8, ENSMUST00000047923.12
      Conserved Domains (1) summary
      COG5028
      Location:116 → 1027
      COG5028; Vesicle coat complex COPII, subunit SEC24/subunit SFB2/subunit SFB3 [Intracellular trafficking and secretion]

    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_000069.7 Reference GRCm39 C57BL/6J

      Range
      123058451..123159290
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030252809.2 → XP_030108669.1  protein transport protein Sec24D isoform X1

      UniProtKB/TrEMBL
      Q6NXL1
      Conserved Domains (1) summary
      COG5028
      Location:116 → 1027
      COG5028; Vesicle coat complex COPII, subunit SEC24/subunit SFB2/subunit SFB3 [Intracellular trafficking and secretion]

    2. XM_030252810.2 → XP_030108670.1  protein transport protein Sec24D isoform X1

      UniProtKB/TrEMBL
      Q6NXL1
      Conserved Domains (1) summary
      COG5028
      Location:116 → 1027
      COG5028; Vesicle coat complex COPII, subunit SEC24/subunit SFB2/subunit SFB3 [Intracellular trafficking and secretion]

    3. XM_036163297.1 → XP_036019190.1  protein transport protein Sec24D isoform X1

      UniProtKB/TrEMBL
      Q6NXL1
      Conserved Domains (1) summary
      COG5028
      Location:116 → 1027
      COG5028; Vesicle coat complex COPII, subunit SEC24/subunit SFB2/subunit SFB3 [Intracellular trafficking and secretion]

    4. XM_006502038.4 → XP_006502101.1  protein transport protein Sec24D isoform X1

      See identical proteins and their annotated locations for XP_006502101.1

      UniProtKB/TrEMBL
      Q6NXL1
      Conserved Domains (1) summary
      COG5028
      Location:116 → 1027
      COG5028; Vesicle coat complex COPII, subunit SEC24/subunit SFB2/subunit SFB3 [Intracellular trafficking and secretion]
    Nucleotide Protein Strain
    Heading Accession and Version

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