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Aliases for GRAMD1A Gene

Aliases for GRAMD1A Gene

  • GRAM Domain Containing 1A 2 3 5
  • KIAA1533 2 3 4
  • GRAM Domain-Containing Protein 1A 3 4
  • Protein Aster-A 3 4

External Ids for GRAMD1A Gene

Previous HGNC Symbols for GRAMD1A Gene

  • KIAA1533

Previous GeneCards Identifiers for GRAMD1A Gene

  • GC19P040174
  • GC19P035486
  • GC19P031999
  • GC19P035533
  • GC19P035679
  • GC19P035789
  • GC19P035952
  • GC19P034995
  • GC19P035094
  • GC19P037004
  • GC19P035200
  • GC19P035264
  • GC19P035580
  • GC19P036219
  • GC19P036396
  • GC19P036557
  • GC19P036726
  • GC19P036866

Summaries for GRAMD1A Gene

GeneCards Summary for GRAMD1A Gene

GRAMD1A (GRAM Domain Containing 1A) is a Protein Coding gene. An important paralog of this gene is GRAMD1B.

UniProtKB/Swiss-Prot for GRAMD1A 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). May play a role in tumor progression (By similarity).

Additional gene information for GRAMD1A Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GRAMD1A Gene

Genomics for GRAMD1A Gene

GeneHancer (GH) Regulatory Elements for GRAMD1A Gene

Promoters and enhancers for GRAMD1A 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
GH19J034994 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 637.5 +6.1 6148 13.5 ZNF473 MTA3 SP1 ZNF652 ZFX ELF3 ZNF148 POLR2A MLLT1 ZNF121 GRAMD1A ENSG00000269303 TMEM147-AS1 ZNF599 HAUS5 LSM14A KMT2B ZNF792 KIAA0355 ZNF302
GH19J034984 Promoter/Enhancer 1.3 EPDnew ENCODE dbSUPER 600.4 -9.2 -9174 1.3 PRDM10 SP1 ZNF248 ZBTB17 YY1 STAT1 NR2F2 ZNF785 GRAMD1A ZNF30 SCN1B ZNF302 ZNF181 HPN ENSG00000179066 HPN-AS1 FXYD3 LRFN3
GH19J034972 Enhancer 1.5 FANTOM5 ENCODE dbSUPER 30.7 -21.6 -21585 0.8 ZNF473 ZNF652 SP1 CC2D1A ELF3 CTCF NKRF ZNF121 ZSCAN21 AHR TMEM147-AS1 HAUS5 ZNF599 ENSG00000267049 PROSER3 KMT2B LSM14A ZNF30 KIAA0355 ZNF792
GH19J035010 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 23.7 +18.3 18322 5 CC2D1A CTCF MLLT1 ZNF121 ELF1 RELA KLF14 MZF1 RAD21 KAT8 ZNF599 TMEM147-AS1 GRAMD1A HAUS5 ZNF302 ARHGAP33 SDHAF1 ENSG00000271049 ZNF181 LIN37
GH19J035037 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 13.9 +46.0 46015 6.4 ZNF473 ZNF652 ZFX ELF3 MNT CBFA2T2 ZNF148 POLR2A ZNF121 CEBPG HPN HAUS5 ZNF599 TMEM147-AS1 KMT2B GRAMD1A LSM14A SDHAF1 ZNF302 ZNF181
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GRAMD1A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GRAMD1A gene promoter:
  • ATF-2
  • CRE-BP1
  • CREB
  • deltaCREB
  • FOXO4
  • Hand1
  • HEN1
  • Ik-2
  • Pax-4a

Genomic Locations for GRAMD1A Gene

Genomic Locations for GRAMD1A Gene
chr19:34,994,784-35,026,471
(GRCh38/hg38)
Size:
31,688 bases
Orientation:
Plus strand
chr19:35,485,688-35,517,375
(GRCh37/hg19)
Size:
31,688 bases
Orientation:
Plus strand

Genomic View for GRAMD1A Gene

Genes around GRAMD1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GRAMD1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRAMD1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRAMD1A Gene

Proteins for GRAMD1A Gene

  • Protein details for GRAMD1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96CP6-ASTRA_HUMAN
    Recommended name:
    Protein Aster-A
    Protein Accession:
    Q96CP6
    Secondary Accessions:
    • A6NKY7
    • Q8NC77
    • Q9P1Z5

    Protein attributes for GRAMD1A Gene

    Size:
    724 amino acids
    Molecular mass:
    80680 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GRAMD1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GRAMD1A Gene

Post-translational modifications for GRAMD1A Gene

  • Ubiquitination at isoforms=2, 3655, posLast=8787, and isoforms=2, 3513
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GRAMD1A Gene

Domains & Families for GRAMD1A Gene

Gene Families for GRAMD1A Gene

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

Protein Domains for GRAMD1A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GRAMD1A Gene

GenScript: Design optimal peptide antigens:
  • GRAM domain-containing protein 1A (GRM1A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96CP6

UniProtKB/Swiss-Prot:

ASTRA_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 GRAMD1A: view

Function for GRAMD1A Gene

Molecular function for GRAMD1A 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). May play a role in tumor progression (By similarity).
UniProtKB/Swiss-Prot Induction:
Up-regulated in hepatocellular carcinoma tissues.

Phenotypes From GWAS Catalog for GRAMD1A Gene

Gene Ontology (GO) - Molecular Function for GRAMD1A 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 GRAMD1A: view

Phenotypes for GRAMD1A Gene

genes like me logo Genes that share phenotypes with GRAMD1A: view

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for GRAMD1A - Now 50% OFF >
  • * GRAMD1A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * GRAMD1A tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GRAMD1A Gene

Localization for GRAMD1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for GRAMD1A 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 is recruited to endoplasmic reticulum-plasma membrane contact sites (EPCS) in response to excess cholesterol in the PM (By similarity). Localizes to distinct EPCS than GRAMD2A and ESYT2/3 (PubMed:29469807). {ECO:0000250 UniProtKB:Q8VEF1, ECO:0000269 PubMed:29469807}.

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 GRAMD1A gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
cytosol 2
mitochondrion 1
nucleus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GRAMD1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GRAMD1A: view

Pathways & Interactions for GRAMD1A Gene

PathCards logo

SuperPathways for GRAMD1A Gene

No Data Available

Gene Ontology (GO) - Biological Process for GRAMD1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport IEA --
GO:0030301 cholesterol transport IEA --
GO:0071397 cellular response to cholesterol ISS --
GO:0120011 intermembrane sterol transfer IEA --
genes like me logo Genes that share ontologies with GRAMD1A: view

No data available for Pathways by source and SIGNOR curated interactions for GRAMD1A Gene

Drugs & Compounds for GRAMD1A Gene

No Compound Related Data Available

Transcripts for GRAMD1A Gene

Unigene Clusters for GRAMD1A Gene

GRAM domain containing 1A:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for GRAMD1A - Now 50% OFF >
  • * GRAMD1A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * GRAMD1A tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for GRAMD1A Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^
SP1: - - - - - - -
SP2: - - - -
SP3:
SP4: -
SP5:
SP6: - - - - -
SP7:
SP8: -
SP9:
SP10:

ExUns: 19 ^ 20 ^ 21a · 21b ^ 22a · 22b ^ 23
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for GRAMD1A Gene

GeneLoc Exon Structure for
GRAMD1A
ECgene alternative splicing isoforms for
GRAMD1A

Expression for GRAMD1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GRAMD1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GRAMD1A Gene

This gene is overexpressed in Whole Blood (x9.0).

Protein differential expression in normal tissues from HIPED for GRAMD1A Gene

This gene is overexpressed in Urine (51.8) and Fetal Brain (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GRAMD1A Gene



Protein tissue co-expression partners for GRAMD1A Gene

NURSA nuclear receptor signaling pathways regulating expression of GRAMD1A Gene:

GRAMD1A

SOURCE GeneReport for Unigene cluster for GRAMD1A Gene:

Hs.515351

mRNA Expression by UniProt/SwissProt for GRAMD1A Gene:

Q96CP6-ASTRA_HUMAN
Tissue specificity: Expressed in liver.

Evidence on tissue expression from TISSUES for GRAMD1A Gene

  • Nervous system(4.7)
  • Lung(2)
genes like me logo Genes that share expression patterns with GRAMD1A: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for GRAMD1A Gene

Orthologs for GRAMD1A Gene

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

Orthologs for GRAMD1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GRAMD1A 35 34
  • 99.49 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GRAMD1A 35 34
  • 91.68 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GRAMD1A 35 34
  • 91.58 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gramd1a 17 35 34
  • 87.56 (n)
rat
(Rattus norvegicus)
Mammalia Gramd1a 34
  • 86.91 (n)
oppossum
(Monodelphis domestica)
Mammalia GRAMD1A 35
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GRAMD1A 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gramd1a 34
  • 62.11 (n)
zebrafish
(Danio rerio)
Actinopterygii gramd1a 35 34
  • 59.48 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG30284 35
  • 20 (a)
ManyToMany
CG34394 35
  • 18 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ZC328.3 35
  • 23 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 35
  • 10 (a)
ManyToMany
YSP2 35
  • 10 (a)
ManyToMany
Species where no ortholog for GRAMD1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)
  • wheat (Triticum aestivum)

Evolution for GRAMD1A Gene

ENSEMBL:
Gene Tree for GRAMD1A (if available)
TreeFam:
Gene Tree for GRAMD1A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GRAMD1A: view image

Paralogs for GRAMD1A Gene

Paralogs for GRAMD1A Gene

(3) SIMAP similar genes for GRAMD1A Gene using alignment to 5 proteins:

  • GRM1A_HUMAN
  • J3KR86_HUMAN
  • M0QZ12_HUMAN
  • M0R0J9_HUMAN
  • S4R3I2_HUMAN
genes like me logo Genes that share paralogs with GRAMD1A: view

Variants for GRAMD1A Gene

Sequence variations from dbSNP and Humsavar for GRAMD1A Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000017153 -- 35,002,660(+) C/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000093038 -- 35,004,217(+) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000167249 -- 35,024,004(+) C/A/G intron_variant
rs1000207779 -- 35,023,774(+) G/A/T 3_prime_UTR_variant, intron_variant
rs1000211295 -- 35,020,227(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GRAMD1A Gene

Variant ID Type Subtype PubMed ID
esv3644225 CNV loss 21293372
nsv473828 CNV novel sequence insertion 20440878

Variation tolerance for GRAMD1A Gene

Residual Variation Intolerance Score: 21.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.43; 77.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GRAMD1A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GRAMD1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRAMD1A Gene

Disorders for GRAMD1A Gene

Additional Disease Information for GRAMD1A

No disorders were found for GRAMD1A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GRAMD1A Gene

Publications for GRAMD1A Gene

  1. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10819331) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 58
  2. GRAM domain proteins specialize functionally distinct ER-PM contact sites in human cells. (PMID: 29469807) Besprozvannaya M … Nunnari J (eLife 2018) 3 4 58
  3. GRAM domain-containing protein 1A (GRAMD1A) promotes the expansion of hepatocellular carcinoma stem cell and hepatocellular carcinoma growth through STAT5. (PMID: 27585821) Fu B … Zhang T (Scientific reports 2016) 3 4 58
  4. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4 58
  5. The multi-subunit GID/CTLH E3 ubiquitin ligase promotes cell proliferation and targets the transcription factor Hbp1 for degradation. (PMID: 29911972) Lampert F … Peter M (eLife 2018) 3 58

Products for GRAMD1A Gene

Sources for GRAMD1A Gene

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