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GRAMD1A GRAM domain containing 1A [ Homo sapiens (human) ]

Gene ID: 57655, updated on 24-Nov-2020

Summary

Official Symbol
GRAMD1Aprovided by HGNC
Official Full Name
GRAM domain containing 1Aprovided by HGNC
Primary source
HGNC:HGNC:29305
See related
Ensembl:ENSG00000089351
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KIAA1533
Expression
Ubiquitous expression in lung (RPKM 13.7), spleen (RPKM 13.3) and 25 other tissues See more
Orthologs

Genomic context

See GRAMD1A in Genome Data Viewer
Location:
19q13.11
Exon count:
27
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (34994727..35026471)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (35485688..35517375)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ZNF30 antisense RNA 1 Neighboring gene zinc finger protein 30 Neighboring gene zinc finger protein 792 Neighboring gene sodium voltage-gated channel beta subunit 1 Neighboring gene hepsin Neighboring gene HPN antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22411, FLJ90346

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cholesterol binding ISS
Inferred from Sequence or Structural Similarity
more info
 
cholesterol transfer activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
autophagy IEA
Inferred from Electronic Annotation
more info
 
cellular response to cholesterol ISS
Inferred from Sequence or Structural Similarity
more info
 
intermembrane lipid transfer IEA
Inferred from Electronic Annotation
more info
 
sterol transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
autophagosome IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum-plasma membrane contact site ISS
Inferred from Sequence or Structural Similarity
more info
 
extrinsic component of cytoplasmic side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intrinsic component of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
organelle membrane contact site IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001136199.3NP_001129671.1  protein Aster-A isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks two alternate in-frame exons, compared to variant 1. The encoded isoform (2) has the same N- and C-termini, but is 11 amino acids shorter than isoform 1.
    Source sequence(s)
    AK074827, AK074914, BC041618, CD367242, DA390646
    Consensus CDS
    CCDS46046.1
    UniProtKB/Swiss-Prot
    Q96CP6
    Related
    ENSP00000439267.1, ENST00000411896.6
    Conserved Domains (2) summary
    cd13220
    Location:95188
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:363509
    DUF4782; Domain of unknown function (DUF4782)
  2. NM_001320034.2NP_001306963.1  protein Aster-A isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (3) has the same N- and C-termini, but is four amino acids shorter than isoform 1.
    Source sequence(s)
    AB040966, BC014077, CD367242, DA390646
    UniProtKB/Swiss-Prot
    Q96CP6
    Conserved Domains (2) summary
    cd13220
    Location:102195
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:370516
    DUF4782; Domain of unknown function (DUF4782)
  3. NM_001320035.2NP_001306964.1  protein Aster-A isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate internal exon compared to variant 1. This variant represents translation initiation at an alternate start codon compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the alternate start codon to encode an isoform (4) that has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK074864, BC014077, CD367242, DA390646
    UniProtKB/Swiss-Prot
    Q96CP6
    UniProtKB/TrEMBL
    B3KQF7
    Conserved Domains (1) summary
    pfam16016
    Location:141284
    DUF4782; Domain of unknown function (DUF4782)
  4. NM_001320036.2NP_001306965.1  protein Aster-A isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains two alternate exons in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at an alternate start codon, and uses an alternate in-frame splice site in the central coding region compared to variant 1. The encoded isoform (5) has a longer and distinct N-terminus and lacks an internal amino acid, compared to isoform 1.
    Source sequence(s)
    AB040966, AC020907, AK097215, BC014077, CD367242
    UniProtKB/Swiss-Prot
    Q96CP6
    UniProtKB/TrEMBL
    B3KUH3
    Conserved Domains (2) summary
    cd13220
    Location:189282
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:456602
    DUF4782; Domain of unknown function (DUF4782)
  5. NM_020895.5NP_065946.2  protein Aster-A isoform 1

    See identical proteins and their annotated locations for NP_065946.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AB040966, BC014077, CD367242, DA390646
    Consensus CDS
    CCDS42546.1
    UniProtKB/Swiss-Prot
    Q96CP6
    Related
    ENSP00000441032.1, ENST00000317991.9
    Conserved Domains (2) summary
    cd13220
    Location:102195
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:370516
    DUF4782; Domain of unknown function (DUF4782)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    34994727..35026471
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527153.1XP_011525455.1  protein Aster-A isoform X4

    Conserved Domains (2) summary
    cd13220
    Location:189282
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:462605
    DUF4782; Domain of unknown function (DUF4782)
  2. XM_017027035.1XP_016882524.1  protein Aster-A isoform X3

    UniProtKB/TrEMBL
    M0QZ12
    Related
    ENSP00000470220.1, ENST00000599564.5
    Conserved Domains (2) summary
    cd13220
    Location:189282
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:462605
    DUF4782; Domain of unknown function (DUF4782)
  3. XM_024451623.1XP_024307391.1  protein Aster-A isoform X9

    Conserved Domains (1) summary
    pfam16016
    Location:141284
    DUF4782; Domain of unknown function (DUF4782)
  4. XM_011527149.2XP_011525451.1  protein Aster-A isoform X1

    Conserved Domains (2) summary
    cd13220
    Location:102195
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:374517
    DUF4782; Domain of unknown function (DUF4782)
  5. XM_011527156.2XP_011525458.1  protein Aster-A isoform X8

    Conserved Domains (1) summary
    pfam16016
    Location:141284
    DUF4782; Domain of unknown function (DUF4782)
  6. XM_017027034.2XP_016882523.1  protein Aster-A isoform X2

    Conserved Domains (2) summary
    cd13220
    Location:102195
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:375518
    DUF4782; Domain of unknown function (DUF4782)
  7. XM_024451622.1XP_024307390.1  protein Aster-A isoform X7

    Conserved Domains (2) summary
    cd13220
    Location:63156
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:336479
    DUF4782; Domain of unknown function (DUF4782)
  8. XM_011527154.2XP_011525456.1  protein Aster-A isoform X5

    Conserved Domains (2) summary
    cd13220
    Location:113206
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:386529
    DUF4782; Domain of unknown function (DUF4782)
  9. XM_011527155.1XP_011525457.1  protein Aster-A isoform X6

    Conserved Domains (2) summary
    cd13220
    Location:107200
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:380523
    DUF4782; Domain of unknown function (DUF4782)
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