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GRAMD1C GRAM domain containing 1C [ Homo sapiens (human) ]

Gene ID: 54762, updated on 26-Nov-2021

Summary

Official Symbol
GRAMD1Cprovided by HGNC
Official Full Name
GRAM domain containing 1Cprovided by HGNC
Primary source
HGNC:HGNC:25252
See related
Ensembl:ENSG00000178075
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
Expression
Broad expression in kidney (RPKM 8.8), testis (RPKM 8.7) and 21 other tissues See more
Orthologs
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Genomic context

See GRAMD1C in Genome Data Viewer
Location:
3q13.31
Exon count:
22
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (113828182..113947174)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (113557635..113666021)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene N-alpha-acetyltransferase 50, NatE catalytic subunit Neighboring gene ATPase H+ transporting V1 subunit A Neighboring gene ribosomal protein S10 pseudogene 4 Neighboring gene CTD nuclear envelope phosphatase 1 pseudogene Neighboring gene VPS26A pseudogene 1 Neighboring gene zinc finger DHHC-type palmitoyltransferase 23 Neighboring gene ATP synthase peripheral stalk-membrane subunit b pseudogene Neighboring gene coiled-coil domain containing 191 Neighboring gene uncharacterized LOC105374048

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ35862, FLJ40464, DKFZp434C0328, DKFZp686K06117

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cholesterol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables cholesterol binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables cholesterol transfer activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables cholesterol transfer activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables sterol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables sterol transfer activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular response to cholesterol ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in intermembrane lipid transfer IEA
Inferred from Electronic Annotation
more info
 
involved_in intracellular sterol transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
located_in endoplasmic reticulum-plasma membrane contact site ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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_001172105.2NP_001165576.1  protein Aster-C isoform 2

    See identical proteins and their annotated locations for NP_001165576.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR and uses a downstream start codon, compared to variant 1. The resulting isoform (2) has a substantially shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK292964, AL133661, BX648633, DC416411
    Consensus CDS
    CCDS54625.1
    UniProtKB/Swiss-Prot
    Q8IYS0
    Related
    ENSP00000408135.2, ENST00000440446.2
    Conserved Domains (1) summary
    pfam16016
    Location:128271
    DUF4782; Domain of unknown function (DUF4782)
  2. NM_017577.5NP_060047.3  protein Aster-C isoform 1

    See identical proteins and their annotated locations for NP_060047.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC079944, AK292846, BC035040, CV575069
    Consensus CDS
    CCDS33826.1
    UniProtKB/Swiss-Prot
    Q8IYS0
    Related
    ENSP00000350881.4, ENST00000358160.9
    Conserved Domains (2) summary
    cd13220
    Location:80173
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:329476
    DUF4782; Domain of unknown function (DUF4782)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    113828182..113947174
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011512930.1XP_011511232.1  protein Aster-C isoform X1

    Conserved Domains (2) summary
    cd13220
    Location:70163
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:323466
    DUF4782; Domain of unknown function (DUF4782)
  2. XM_017006647.1XP_016862136.1  protein Aster-C isoform X6

    UniProtKB/TrEMBL
    B3KUR5
    Conserved Domains (1) summary
    pfam16016
    Location:62205
    DUF4782; Domain of unknown function (DUF4782)
  3. XM_005247546.2XP_005247603.1  protein Aster-C isoform X2

    Conserved Domains (2) summary
    pfam16016
    Location:301444
    DUF4782; Domain of unknown function (DUF4782)
    cl17171
    Location:80141
    PH-like; Pleckstrin homology-like domain
  4. XM_017006646.1XP_016862135.1  protein Aster-C isoform X4

    Conserved Domains (2) summary
    pfam16016
    Location:301444
    DUF4782; Domain of unknown function (DUF4782)
    cl17171
    Location:80141
    PH-like; Pleckstrin homology-like domain
  5. XM_005247547.2XP_005247604.1  protein Aster-C isoform X3

    Conserved Domains (2) summary
    cd13220
    Location:80173
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:333476
    DUF4782; Domain of unknown function (DUF4782)
  6. XM_011512931.1XP_011511233.1  protein Aster-C isoform X5

    See identical proteins and their annotated locations for XP_011511233.1

    UniProtKB/Swiss-Prot
    Q8IYS0
    Related
    ENSP00000419132.1, ENST00000472026.5
    Conserved Domains (1) summary
    pfam16016
    Location:128271
    DUF4782; Domain of unknown function (DUF4782)
  7. XM_017006648.1XP_016862137.1  protein Aster-C isoform X6

    UniProtKB/TrEMBL
    B3KUR5
    Conserved Domains (1) summary
    pfam16016
    Location:62205
    DUF4782; Domain of unknown function (DUF4782)
  8. XM_017006649.1XP_016862138.1  protein Aster-C isoform X6

    UniProtKB/TrEMBL
    B3KUR5
    Conserved Domains (1) summary
    pfam16016
    Location:62205
    DUF4782; Domain of unknown function (DUF4782)
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