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    Gramd1a GRAM domain containing 1A [ Mus musculus (house mouse) ]

    Gene ID: 52857, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Gramd1aprovided by MGI
    Official Full Name
    GRAM domain containing 1Aprovided by MGI
    Primary source
    MGI:MGI:105490
    See related
    Ensembl:ENSMUSG00000001248 AllianceGenome:MGI:105490
    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
    D7Bwg0611e; 1300003M23Rik
    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 central nervous system; liver lobe; skeleton; and vibrissa. Orthologous to human GRAMD1A (GRAM domain containing 1A). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in thymus adult (RPKM 128.3), whole brain E14.5 (RPKM 91.6) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Gramd1a in Genome Data Viewer
    Location:
    7 B1; 7 19.3 cM
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (30829552..30855374, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (31130127..31155935, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene hepsin Neighboring gene STARR-positive B cell enhancer mm9_chr7:31896031-31896332 Neighboring gene sodium channel, voltage-gated, type I, beta Neighboring gene STARR-seq mESC enhancer starr_18545 Neighboring gene STARR-seq mESC enhancer starr_18546 Neighboring gene predicted gene 10640 Neighboring gene predicted gene, 53359

    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 Regulate the Accessible Cholesterol Pool in the Plasma Membrane. Ferrari A, et al. Mol Cell Biol, 2020 Sep 14. PMID 32719109, Free PMC Article
    2. 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
    3. Viral Infection-Induced Differential Expression of LncRNAs Associated with Collagen in Mouse Placentas and Amniotic Sacs. Pan J, et al. Am J Reprod Immunol, 2015 Sep. PMID 26073538
    4. Overlapping Activities of Two Neuronal Splicing Factors Switch the GABA Effect from Excitatory to Inhibitory by Regulating REST. Nakano Y, et al. Cell Rep, 2019 Apr 16. PMID 30995482, Free PMC Article
    5. Genetic mapping of 262 loci derived from expressed sequences in a murine interspecific cross using single-strand conformational polymorphism analysis. Brady KP, et al. Genome Res, 1997 Nov. PMID 9371744, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Aster Proteins Regulate the Accessible Cholesterol Pool in the Plasma Membrane.
      Title: Aster Proteins Regulate the Accessible Cholesterol Pool in the Plasma Membrane.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    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 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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in autophagy IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    located_in autophagosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    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 
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 organelle membrane contact site ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in organelle membrane contact site ISS
    Inferred from Sequence or Structural Similarity
    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 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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

    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_001360351.1 → NP_001347280.1  protein Aster-A isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC158993
      UniProtKB/TrEMBL
      F8WJ74
      Conserved Domains (2) summary
      cd13220
      Location:104 → 197
      PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam16016
      Location:372 → 520
      DUF4782; Domain of unknown function (DUF4782)

    2. NM_027898.4 → NP_082174.3  protein Aster-A isoform 2

      See identical proteins and their annotated locations for NP_082174.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC158993
      Consensus CDS
      CCDS52189.1
      UniProtKB/Swiss-Prot
      Q3U914, Q3UD89, Q69ZH2, Q8BNF1, Q8VEF1
      UniProtKB/TrEMBL
      F8WJ74
      Related
      ENSMUSP00000001280.8, ENSMUST00000001280.14
      Conserved Domains (2) summary
      cd13220
      Location:104 → 197
      PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam16016
      Location:372 → 518
      DUF4782; Domain of unknown function (DUF4782)

    RNA

    1. NR_153431.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice junction and lacks an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC158993, AK004885
      Related
      ENSMUST00000186634.7

    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_000073.7 Reference GRCm39 C57BL/6J

      Range
      30829552..30855374 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006540184.3 → XP_006540247.1  protein Aster-A isoform X1

      UniProtKB/TrEMBL
      F8WJ74
      Conserved Domains (2) summary
      cd13220
      Location:185 → 278
      PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam16016
      Location:458 → 601
      DUF4782; Domain of unknown function (DUF4782)

    2. XM_006540185.5 → XP_006540248.1  protein Aster-A isoform X2

      UniProtKB/TrEMBL
      F8WJ74
      Conserved Domains (2) summary
      cd13220
      Location:185 → 278
      PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam16016
      Location:458 → 601
      DUF4782; Domain of unknown function (DUF4782)

    3. XM_006540188.3 → XP_006540251.1  protein Aster-A isoform X4

      UniProtKB/TrEMBL
      F8WJ74
      Conserved Domains (2) summary
      cd13220
      Location:63 → 156
      PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam16016
      Location:336 → 479
      DUF4782; Domain of unknown function (DUF4782)

    4. XM_006540186.4 → XP_006540249.1  protein Aster-A isoform X3

      UniProtKB/TrEMBL
      F8WJ74
      Conserved Domains (2) summary
      cd13220
      Location:130 → 223
      PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam16016
      Location:403 → 546
      DUF4782; Domain of unknown function (DUF4782)

    RNA

    1. XR_004934142.1 RNA Sequence

    2. XR_004934141.1 RNA Sequence

    3. XR_004934140.1 RNA Sequence

      Related
      ENSMUST00000185985.7

    4. XR_003946511.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8VEF1.2 GenPept UniProtKB/Swiss-Prot:Q8VEF1

    Gene LinkOut

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

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