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

Gene ID: 207798, updated on 5-Mar-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; reproductive system; respiratory system; and ventricular layer. Orthologous to human GRAMD1C (GRAM domain containing 1C). [provided by Alliance of Genome Resources, Apr 2022]
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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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. 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
  2. A mouse knockout library for secreted and transmembrane proteins. Tang T, et al. Nat Biotechnol, 2010 Jul. PMID 20562862
  3. 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
  4. BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system. Magdaleno S, et al. PLoS Biol, 2006 Apr. PMID 16602821, Free PMC Article
  5. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article

See all (15) 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)
  • Targeted (3)  1 citation
  • Endonuclease-mediated (2) 

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 
enables lipid binding IEA
Inferred from Electronic Annotation
more info
  
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
  
acts_upstream_of_or_within lipid transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
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 
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
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

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