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

Gene ID: 54762, updated on 2-Nov-2024

Summary

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Official Symbol
GRAMD1Cprovided by HGNC
Official Full Name
GRAM domain containing 1Cprovided by HGNC
Primary source
HGNC:HGNC:25252
See related
Ensembl:ENSG00000178075 MIM:620180; AllianceGenome:HGNC:25252
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
Summary
Predicted to enable cholesterol binding activity and cholesterol transfer activity. Predicted to be involved in cellular response to cholesterol and intracellular sterol transport. Predicted to be located in endoplasmic reticulum; membrane; and organelle membrane contact site. Predicted to be active in endoplasmic reticulum membrane; endoplasmic reticulum-plasma membrane contact site; and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
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

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See GRAMD1C in Genome Data Viewer
Location:
3q13.31
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (113828192..113947174)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (116549379..116668438)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (113557635..113666021)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:113463940-113464676 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:113464677-113465412 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:113465413-113466148 Neighboring gene N-alpha-acetyltransferase 50, NatE catalytic subunit Neighboring gene ATPase H+ transporting V1 subunit A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20263 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14611 Neighboring gene ribosomal protein S10 pseudogene 4 Neighboring gene CTDNEP1 pseudogene 1 Neighboring gene VPS26A pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:113666278-113666778 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14613 Neighboring gene zinc finger DHHC-type palmitoyltransferase 23 Neighboring gene coiled-coil domain containing 191 Neighboring gene ATP5PB pseudogene 8

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Protein array based interactome analysis of amyloid-β indicates an inhibition of protein translation. Virok DP, et al. J Proteome Res, 2011 Apr 1. PMID 21244100
  2. FAM105A/OTULINL Is a Pseudodeubiquitinase of the OTU-Class that Localizes to the ER Membrane. Ceccarelli DF, et al. Structure, 2019 Jun 4. PMID 31056421, Free PMC Article
  3. An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. Chen S, et al. Nat Genet, 2018 Jul. PMID 29892012, Free PMC Article
  4. Widespread macromolecular interaction perturbations in human genetic disorders. Sahni N, et al. Cell, 2015 Apr 23. PMID 25910212, Free PMC Article
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
  
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
  
enables cholesterol transfer activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cellular response to cholesterol ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in intracellular sterol transport IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
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 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 ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
protein Aster-C
Names
Aster-C
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_001172105.2 → NP_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/TrEMBL
    E9PHT3
    Related
    ENSP00000408135.2, ENST00000440446.2
    Conserved Domains (1) summary
    pfam16016
    Location:128 → 271
    DUF4782; Domain of unknown function (DUF4782)

  2. NM_017577.5 → NP_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
    A8K9Y1, A8KA99, Q6AW94, Q6UWN1, Q8IYS0, Q8N6S0, Q9UF46
    Related
    ENSP00000350881.4, ENST00000358160.9
    Conserved Domains (2) summary
    cd13220
    Location:80 → 173
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:329 → 476
    DUF4782; Domain of unknown function (DUF4782)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    113828192..113947174
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011512930.2 → XP_011511232.1  protein Aster-C isoform X1

    Conserved Domains (2) summary
    cd13220
    Location:70 → 163
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:323 → 466
    DUF4782; Domain of unknown function (DUF4782)

  2. XM_005247547.3 → XP_005247604.1  protein Aster-C isoform X2

    Conserved Domains (2) summary
    cd13220
    Location:80 → 173
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:333 → 476
    DUF4782; Domain of unknown function (DUF4782)

  3. XM_011512931.2 → XP_011511233.1  protein Aster-C isoform X3

    See identical proteins and their annotated locations for XP_011511233.1

    UniProtKB/TrEMBL
    E9PHT3
    Related
    ENSP00000419132.1, ENST00000472026.5
    Conserved Domains (1) summary
    pfam16016
    Location:128 → 271
    DUF4782; Domain of unknown function (DUF4782)

  4. XM_017006649.2 → XP_016862138.1  protein Aster-C isoform X4

    UniProtKB/TrEMBL
    B3KUR5
    Conserved Domains (1) summary
    pfam16016
    Location:62 → 205
    DUF4782; Domain of unknown function (DUF4782)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    116549379..116668438
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054346955.1 → XP_054202930.1  protein Aster-C isoform X1

  2. XM_054346956.1 → XP_054202931.1  protein Aster-C isoform X2

  3. XM_054346957.1 → XP_054202932.1  protein Aster-C isoform X3

  4. XM_054346958.1 → XP_054202933.1  protein Aster-C isoform X4

    UniProtKB/TrEMBL
    B3KUR5
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IYS0.2 GenPept UniProtKB/Swiss-Prot:Q8IYS0

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