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    Gramd1c GRAM domain containing 1C [ Mus musculus (house mouse) ]

    Gene ID: 207798, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Gramd1cprovided by MGI
    Official Full Name
    GRAM domain containing 1Cprovided by MGI
    Primary source
    MGI:MGI:2443024
    See related
    Ensembl:ENSMUSG00000036292 AllianceGenome:MGI:2443024
    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
    4921521N14Rik
    Summary
    Enables cholesterol binding activity and cholesterol transfer activity. Involved in cellular response to cholesterol. Located in endoplasmic reticulum membrane; endoplasmic reticulum-plasma membrane contact site; and plasma membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and ventricular layer. Orthologous to human GRAMD1C (GRAM domain containing 1C). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis adult (RPKM 5.0), liver E18 (RPKM 1.8) and 18 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Gramd1c in Genome Data Viewer
    Location:
    16 B4; 16 28.44 cM
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (43800713..43883757, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (43980350..44065380, complement)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E1924 Neighboring gene coiled-coil domain containing 191 Neighboring gene STARR-positive B cell enhancer mm9_chr16:43951746-43952047 Neighboring gene zinc finger, DHHC domain containing 23 Neighboring gene predicted gene, 46552 Neighboring gene STARR-seq mESC enhancer starr_40889 Neighboring gene microRNA 3470b Neighboring gene STARR-seq mESC enhancer starr_40890 Neighboring gene STARR-seq mESC enhancer starr_40891 Neighboring gene STARR-seq mESC enhancer starr_40894 Neighboring gene ATPase, H+ transporting, lysosomal V1 subunit A Neighboring gene STARR-seq mESC enhancer starr_40895 Neighboring gene STARR-positive B cell enhancer ABC_E9932 Neighboring gene STARR-seq mESC enhancer starr_40896 Neighboring gene N(alpha)-acetyltransferase 50, NatE catalytic subunit

    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. The nonvesicular sterol transporter Aster-C plays a minor role in whole body cholesterol balance. Banerjee R, et al. Front Physiol, 2024. PMID 38694206, Free PMC Article
    2. Aster-dependent nonvesicular transport facilitates dietary cholesterol uptake. Ferrari A, et al. Science, 2023 Nov 10. PMID 37943936, Free PMC Article
    3. Aster Proteins Facilitate Nonvesicular Plasma Membrane to ER Cholesterol Transport in Mammalian Cells. Sandhu J, et al. Cell, 2018 Oct 4. PMID 30220461, Free PMC Article
    4. A mouse knockout library for secreted and transmembrane proteins. Tang T, et al. Nat Biotechnol, 2010 Jul. PMID 20562862
    5. The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. Koscielny G, et al. Nucleic Acids Res, 2014 Jan. PMID 24194600, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (5)  1 citation

    General gene information

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    Homology

    Clone Names

    • MGC47315

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables cholesterol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cholesterol binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables cholesterol transfer activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cholesterol transfer activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to cholesterol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in intracellular sterol transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sterol transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum-plasma membrane contact site IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum-plasma membrane contact site IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein Aster-C
    Names
    GRAM domain-containing protein 1C

    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_001172107.1 → NP_001165578.1  protein Aster-C isoform 1

      See identical proteins and their annotated locations for NP_001165578.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC129306, AC132310
      Consensus CDS
      CCDS28181.1
      UniProtKB/TrEMBL
      A0A3P9AQ15
      Related
      ENSMUSP00000110325.2, ENSMUST00000114677.2
      Conserved Domains (1) summary
      pfam16016
      Location:124 → 270
      DUF4782; Domain of unknown function (DUF4782)

    2. NM_001359085.1 → NP_001346014.1  protein Aster-C isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. It encodes isoform 2 which has a longer N-terminus compared to isoform 1.
      Source sequence(s)
      AC125098, AC129306, AC132310
      Conserved Domains (2) summary
      cd13220
      Location:52 → 145
      PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam16016
      Location:301 → 448
      DUF4782; Domain of unknown function (DUF4782)

    3. NM_001408334.1 → NP_001395263.1  protein Aster-C isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC125098, AC129306, AC132310
      UniProtKB/Swiss-Prot
      A0A1L1SSU1, Q8BI24, Q8CI52
      Related
      ENSMUSP00000150056.2, ENSMUST00000214098.2

    4. NM_001408335.1 → NP_001395264.1  protein Aster-C isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC129306, AC132310

    5. NM_001408336.1 → NP_001395265.1  protein Aster-C isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC129306, AC132310

    6. NM_153528.3 → NP_705756.1  protein Aster-C isoform 1

      See identical proteins and their annotated locations for NP_705756.1

      Status: VALIDATED

      Source sequence(s)
      AC129306, AC132310
      Consensus CDS
      CCDS28181.1
      UniProtKB/TrEMBL
      A0A3P9AQ15
      Related
      ENSMUSP00000036739.4, ENSMUST00000036174.10
      Conserved Domains (1) summary
      pfam16016
      Location:124 → 270
      DUF4782; Domain of unknown function (DUF4782)

    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_000082.7 Reference GRCm39 C57BL/6J

      Range
      43800713..43883757 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006521895.5 → XP_006521958.1  protein Aster-C isoform X2

      Conserved Domains (2) summary
      cd13220
      Location:77 → 170
      PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam16016
      Location:330 → 473
      DUF4782; Domain of unknown function (DUF4782)

    2. XM_006521896.2 → XP_006521959.1  protein Aster-C isoform X3

      Conserved Domains (2) summary
      cd13220
      Location:51 → 144
      PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam16016
      Location:304 → 447
      DUF4782; Domain of unknown function (DUF4782)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CI52.2 GenPept UniProtKB/Swiss-Prot:Q8CI52

    Gene LinkOut

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

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