Aliases for GRAMD1C Gene

Aliases for GRAMD1C Gene

  • GRAM Domain Containing 1C 2 3 5
  • GRAM Domain-Containing Protein 1C 3 4
  • Protein Aster-C 3 4
  • DKFZp434C0328 2
  • GRAMD1C 5

External Ids for GRAMD1C Gene

Previous GeneCards Identifiers for GRAMD1C Gene

  • GC03P115041
  • GC03P113547
  • GC03P110932

Summaries for GRAMD1C Gene

GeneCards Summary for GRAMD1C Gene

GRAMD1C (GRAM Domain Containing 1C) is a Protein Coding gene. Diseases associated with GRAMD1C include Generalized Atherosclerosis. An important paralog of this gene is GRAMD1B.

UniProtKB/Swiss-Prot Summary for GRAMD1C Gene

  • Cholesterol transporter that mediates non-vesicular transport of cholesterol from the plasma membrane (PM) to the endoplasmic reticulum (ER) (By similarity). Contains unique domains for binding cholesterol and the PM, thereby serving as a molecular bridge for the transfer of cholesterol from the PM to the ER (By similarity). Plays a crucial role in cholesterol homeostasis and has the unique ability to localize to the PM based on the level of membrane cholesterol (By similarity). In lipid-poor conditions localizes to the ER membrane and in response to excess cholesterol in the PM is recruited to the endoplasmic reticulum-plasma membrane contact sites (EPCS) which is mediated by the GRAM domain (By similarity). At the EPCS, the sterol-binding VASt/ASTER domain binds to the cholesterol in the PM and facilitates its transfer from the PM to ER (By similarity).

Additional gene information for GRAMD1C Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GRAMD1C Gene

Genomics for GRAMD1C Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GRAMD1C Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J113838 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 631.4 +10.9 10925 1.8 GATAD2A CTCF TEAD4 PRDM10 BACH1 LARP7 PRDM1 ZNF143 REST RAD21 GRAMD1C ZDHHC23 QTRT2 CCDC191 piR-56759-405
GH03J113897 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 600.2 +69.3 69302 1.4 ZHX2 FOXA1 SP1 SCRT2 ZBTB20 CTBP1 FOXA2 ATF3 YY1 ZNF217 GRAMD1C ENSG00000241889 lnc-ZDHHC23-2 ZDHHC23
GH03J113829 Enhancer 1.1 Ensembl ENCODE 36.6 +3.5 3474 7.7 GATAD2A TFE3 RCOR2 STAT3 PRDM1 RELA RXRB IKZF2 SP1 GABPA GRAMD1C QTRT2 CCDC191 piR-56759-405 ZDHHC23
GH03J113782 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 11.6 -44.3 -44337 2.5 ATF7 ZNF629 RFX1 PKNOX1 FOXJ2 ARID3A RELB JUND CEBPB RUNX3 ATP6V1A GRAMD1C USF3 NAA50 HE855940 HSALNG0028123
GH03J113788 Enhancer 0.9 Ensembl ENCODE dbSUPER 11.6 -39.5 -39481 1 IKZF2 RELA EED CEBPB RUNX3 ZBTB40 IKZF1 EBF1 ATF2 ATF7 ATP6V1A NAA50 ENSG00000242659 ENSG00000239280 GRAMD1C HSALNG0028123 HE855940
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GRAMD1C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GRAMD1C

Top Transcription factor binding sites by QIAGEN in the GRAMD1C gene promoter:
  • ARP-1
  • FOXO1
  • FOXO1a
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4

Genomic Locations for GRAMD1C Gene

Genomic Locations for GRAMD1C Gene
chr3:113,828,182-113,947,174
(GRCh38/hg38)
Size:
118,993 bases
Orientation:
Plus strand
chr3:113,547,029-113,666,021
(GRCh37/hg19)
Size:
118,993 bases
Orientation:
Plus strand

Genomic View for GRAMD1C Gene

Genes around GRAMD1C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GRAMD1C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRAMD1C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRAMD1C Gene

Proteins for GRAMD1C Gene

  • Protein details for GRAMD1C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IYS0-ASTRC_HUMAN
    Recommended name:
    Protein Aster-C
    Protein Accession:
    Q8IYS0
    Secondary Accessions:
    • A8K9Y1
    • A8KA99
    • Q6AW94
    • Q6UWN1
    • Q8N6S0
    • Q9UF46

    Protein attributes for GRAMD1C Gene

    Size:
    662 amino acids
    Molecular mass:
    76035 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH28972.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GRAMD1C Gene

    Alternative splice isoforms for GRAMD1C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GRAMD1C Gene

Post-translational modifications for GRAMD1C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GRAMD1C Gene

Domains & Families for GRAMD1C Gene

Gene Families for GRAMD1C Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for GRAMD1C Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GRAMD1C Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ78240 (A8KA99_HUMAN)
  • cDNA FLJ40464 fis, clone TESTI2042264 (B3KUR5_HUMAN)
  • cDNA FLJ57959 (B4DF12_HUMAN)
  • GRAM domain-containing protein 1C (GRM1C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IYS0

UniProtKB/Swiss-Prot:

ASTRC_HUMAN :
  • GRAM domain binds phosphatidylserine in the PM and mediates protein recruitment to endoplasmic reticulum-plasma membrane contact sites (EPCS) in response to excess cholesterol in the PM.
Domain:
  • GRAM domain binds phosphatidylserine in the PM and mediates protein recruitment to endoplasmic reticulum-plasma membrane contact sites (EPCS) in response to excess cholesterol in the PM.
  • VASt (VAD1 Analog of StAR-related lipid transfer) domain, also known as ASTER (Greek for star) domain is a sterol-binding domain.
genes like me logo Genes that share domains with GRAMD1C: view

Function for GRAMD1C Gene

Molecular function for GRAMD1C Gene

UniProtKB/Swiss-Prot Function:
Cholesterol transporter that mediates non-vesicular transport of cholesterol from the plasma membrane (PM) to the endoplasmic reticulum (ER) (By similarity). Contains unique domains for binding cholesterol and the PM, thereby serving as a molecular bridge for the transfer of cholesterol from the PM to the ER (By similarity). Plays a crucial role in cholesterol homeostasis and has the unique ability to localize to the PM based on the level of membrane cholesterol (By similarity). In lipid-poor conditions localizes to the ER membrane and in response to excess cholesterol in the PM is recruited to the endoplasmic reticulum-plasma membrane contact sites (EPCS) which is mediated by the GRAM domain (By similarity). At the EPCS, the sterol-binding VASt/ASTER domain binds to the cholesterol in the PM and facilitates its transfer from the PM to ER (By similarity).

Phenotypes From GWAS Catalog for GRAMD1C Gene

Gene Ontology (GO) - Molecular Function for GRAMD1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0008289 lipid binding IEA --
GO:0015485 cholesterol binding ISS --
GO:0120020 intermembrane cholesterol transfer activity ISS --
genes like me logo Genes that share ontologies with GRAMD1C: view
genes like me logo Genes that share phenotypes with GRAMD1C: view

Animal Model Products

  • Taconic Biosciences Mouse Models for GRAMD1C

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GRAMD1C

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GRAMD1C Gene

Localization for GRAMD1C Gene

Subcellular locations from UniProtKB/Swiss-Prot for GRAMD1C Gene

Endoplasmic reticulum membrane. Single-pass membrane protein. Cell membrane. Single-pass membrane protein. Note=In lipid-poor conditions localizes to the ER membrane and in response to excess cholesterol in the PM is recruited to the endoplasmic reticulum-plasma membrane contact sites (EPCS). {ECO:0000250 UniProtKB:Q8CI52}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GRAMD1C gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 4
mitochondrion 1
nucleus 1
endosome 1
cytosol 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GRAMD1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane ISS --
GO:0005886 plasma membrane ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GRAMD1C: view

Pathways & Interactions for GRAMD1C Gene

PathCards logo

SuperPathways for GRAMD1C Gene

No Data Available

Gene Ontology (GO) - Biological Process for GRAMD1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport IEA --
GO:0015918 sterol transport IEA --
GO:0071397 cellular response to cholesterol ISS --
GO:0120009 intermembrane lipid transfer IEA --
genes like me logo Genes that share ontologies with GRAMD1C: view

No data available for Pathways by source and SIGNOR curated interactions for GRAMD1C Gene

Drugs & Compounds for GRAMD1C Gene

No Compound Related Data Available

Transcripts for GRAMD1C Gene

mRNA/cDNA for GRAMD1C Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GRAMD1C

Alternative Splicing Database (ASD) splice patterns (SP) for GRAMD1C Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^
SP1: - - - - - -
SP2: - - - -
SP3: -
SP4:
SP5: - -
SP6: - - -
SP7:

ExUns: 19 ^ 20a · 20b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for GRAMD1C Gene

GeneLoc Exon Structure for
GRAMD1C

Expression for GRAMD1C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GRAMD1C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

Protein differential expression in normal tissues from HIPED for GRAMD1C Gene

This gene is overexpressed in Testis (26.1), Fetal heart (18.5), and Liver (17.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GRAMD1C Gene



Protein tissue co-expression partners for GRAMD1C Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GRAMD1C

SOURCE GeneReport for Unigene cluster for GRAMD1C Gene:

Hs.24583

Evidence on tissue expression from TISSUES for GRAMD1C Gene

  • Liver(4.2)
genes like me logo Genes that share expression patterns with GRAMD1C: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GRAMD1C Gene

Orthologs for GRAMD1C Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GRAMD1C Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GRAMD1C 30 31
  • 99.35 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GRAMD1C 31
  • 87 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gramd1c 30
  • 83.43 (n)
Cow
(Bos Taurus)
Mammalia GRAMD1C 31
  • 81 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Gramd1c 31
  • 80 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GRAMD1C 31
  • 78 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GRAMD1C 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GRAMD1C 30 31
  • 70.52 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GRAMD1C 31
  • 59 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.13605 30
Zebrafish
(Danio rerio)
Actinopterygii si:ch73-93k15.2 30
  • 55.25 (n)
GRAMD1C 31
  • 39 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG30284 31
  • 20 (a)
ManyToMany
CG34394 31
  • 15 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea ZC328.3 31
  • 24 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 31
  • 10 (a)
ManyToMany
YSP2 31
  • 9 (a)
ManyToMany
Species where no ortholog for GRAMD1C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for GRAMD1C Gene

ENSEMBL:
Gene Tree for GRAMD1C (if available)
TreeFam:
Gene Tree for GRAMD1C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GRAMD1C: view image

Paralogs for GRAMD1C Gene

Paralogs for GRAMD1C Gene

(2) SIMAP similar genes for GRAMD1C Gene using alignment to 8 proteins:

  • GRM1C_HUMAN
  • A8KA99_HUMAN
  • B3KUR5_HUMAN
  • B4DF12_HUMAN
  • C9J7B8_HUMAN
  • C9K0V2_HUMAN
  • E9PHT3_HUMAN
  • F8WCA8_HUMAN
genes like me logo Genes that share paralogs with GRAMD1C: view

Variants for GRAMD1C Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GRAMD1C Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs17853381 - p.Leu644Pro

Additional dbSNP identifiers (rs#s) for GRAMD1C Gene

Structural Variations from Database of Genomic Variants (DGV) for GRAMD1C Gene

Variant ID Type Subtype PubMed ID
dgv4841n100 CNV loss 25217958
dgv617n27 CNV loss 19166990
dgv8506n54 CNV loss 21841781
dgv8507n54 CNV loss 21841781
dgv8508n54 CNV loss 21841781
esv2674471 CNV deletion 23128226
esv3568963 CNV loss 25503493
esv3597444 CNV loss 21293372
esv3597445 CNV loss 21293372
esv3893765 CNV loss 25118596
nsv1013506 CNV gain 25217958
nsv1013746 CNV gain 25217958
nsv1114418 CNV deletion 24896259
nsv1117020 CNV deletion 24896259
nsv1127987 CNV deletion 24896259
nsv460822 CNV loss 19166990
nsv473469 CNV novel sequence insertion 20440878
nsv516703 CNV loss 19592680
nsv591306 CNV loss 21841781
nsv829678 CNV loss 17160897
nsv965200 CNV duplication 23825009

Variation tolerance for GRAMD1C Gene

Residual Variation Intolerance Score: 66.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.48; 43.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GRAMD1C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GRAMD1C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRAMD1C Gene

Disorders for GRAMD1C Gene

MalaCards: The human disease database

(1) MalaCards diseases for GRAMD1C Gene - From: DISEASES

Disorder Aliases PubMed IDs
generalized atherosclerosis
  • generalised atherosclerosis
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with GRAMD1C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GRAMD1C Gene

Publications for GRAMD1C Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. FAM105A/OTULINL Is a Pseudodeubiquitinase of the OTU-Class that Localizes to the ER Membrane. (PMID: 31056421) Ceccarelli DF … Sicheri F (Structure (London, England : 1993) 2019) 3
  5. An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. (PMID: 29892012) Chen S … Yu H (Nature genetics 2018) 3

Products for GRAMD1C Gene

Sources for GRAMD1C Gene