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

Gene ID: 52857, updated on 2-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 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

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