Aliases for GPATCH3 Gene

Aliases for GPATCH3 Gene

  • G-Patch Domain Containing 3 2 3 5
  • G Patch Domain-Containing Protein 3 3 4
  • GPATC3 3 4

External Ids for GPATCH3 Gene

Previous HGNC Symbols for GPATCH3 Gene

  • GPATC3

Previous GeneCards Identifiers for GPATCH3 Gene

  • GC01M027090
  • GC01M027216
  • GC01M025470

Summaries for GPATCH3 Gene

GeneCards Summary for GPATCH3 Gene

GPATCH3 (G-Patch Domain Containing 3) is a Protein Coding gene. Diseases associated with GPATCH3 include Corneal Edema. Gene Ontology (GO) annotations related to this gene include nucleic acid binding.

UniProtKB/Swiss-Prot Summary for GPATCH3 Gene

  • Involved in transcriptional regulation. It is able to activate transcription from the CXCR4 promoter and therefore it might control neural crest cell migration involved in ocular and craniofacial development (PubMed:28397860). Is a negative regulator of immune antiviral response, acting via down-regulation of RIG-I-like receptors signaling and inhibition of type I interferon production. The control mechanism involves interaction with mitochondrial MAVS and inhibition of MAVS assembly with downstream proteins implicated in antiviral response, such as TBK1 and TRAF6 (PubMed:28414768).

Additional gene information for GPATCH3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GPATCH3 Gene

Genomics for GPATCH3 Gene

GeneHancer (GH) Regulatory Elements for GPATCH3 Gene

Promoters and enhancers for GPATCH3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GPATCH3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GPATCH3

Top Transcription factor binding sites by QIAGEN in the GPATCH3 gene promoter:
  • Arnt
  • GATA-1
  • GATA-2
  • GATA-3
  • GATA-6
  • Lmo2
  • NF-1
  • Pax-4a
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for GPATCH3 Gene

Genomic Locations for GPATCH3 Gene
chr1:26,890,488-26,901,065
(GRCh38/hg38)
Size:
10,578 bases
Orientation:
Minus strand
chr1:27,216,979-27,226,962
(GRCh37/hg19)
Size:
9,984 bases
Orientation:
Minus strand

Genomic View for GPATCH3 Gene

Genes around GPATCH3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPATCH3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPATCH3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPATCH3 Gene

Proteins for GPATCH3 Gene

  • Protein details for GPATCH3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96I76-GPTC3_HUMAN
    Recommended name:
    G patch domain-containing protein 3
    Protein Accession:
    Q96I76
    Secondary Accessions:
    • Q5JYH2
    • Q8NDJ2
    • Q9H9Z3

    Protein attributes for GPATCH3 Gene

    Size:
    525 amino acids
    Molecular mass:
    59338 Da
    Quaternary structure:
    • Interacts with mitochondrial MAVS; the interaction is markedly increased upon viral infection.
    SequenceCaution:
    • Sequence=CAD38742.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for GPATCH3 Gene

Post-translational modifications for GPATCH3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GPATCH3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GPATCH3 Gene

Domains & Families for GPATCH3 Gene

Gene Families for GPATCH3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for GPATCH3 Gene

Blocks:
  • D111/G-patch domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GPATCH3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53947, highly similar to G patch domain-containing protein 3 (B4E015_HUMAN)
  • G patch domain-containing protein 3 (GPTC3_HUMAN)
  • G patch domain containing 3 (Q5JYG6_HUMAN)
genes like me logo Genes that share domains with GPATCH3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for GPATCH3 Gene

Function for GPATCH3 Gene

Molecular function for GPATCH3 Gene

UniProtKB/Swiss-Prot Function:
Involved in transcriptional regulation. It is able to activate transcription from the CXCR4 promoter and therefore it might control neural crest cell migration involved in ocular and craniofacial development (PubMed:28397860). Is a negative regulator of immune antiviral response, acting via down-regulation of RIG-I-like receptors signaling and inhibition of type I interferon production. The control mechanism involves interaction with mitochondrial MAVS and inhibition of MAVS assembly with downstream proteins implicated in antiviral response, such as TBK1 and TRAF6 (PubMed:28414768).

Phenotypes From GWAS Catalog for GPATCH3 Gene

Gene Ontology (GO) - Molecular Function for GPATCH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0005515 protein binding IPI 28414768
genes like me logo Genes that share ontologies with GPATCH3: view
genes like me logo Genes that share phenotypes with GPATCH3: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GPATCH3 Gene

Localization for GPATCH3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GPATCH3 Gene

Nucleus. Cytoplasm.

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 GPATCH3 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for GPATCH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 28397860
GO:0005737 cytoplasm IDA,IEA 28397860
genes like me logo Genes that share ontologies with GPATCH3: view

Pathways & Interactions for GPATCH3 Gene

PathCards logo

SuperPathways for GPATCH3 Gene

No Data Available

Interacting Proteins for GPATCH3 Gene

;

Gene Ontology (GO) - Biological Process for GPATCH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032480 negative regulation of type I interferon production IMP,IEA 28414768
GO:0039536 negative regulation of RIG-I signaling pathway IMP,IEA 28414768
GO:0045893 positive regulation of transcription, DNA-templated IDA,IBA 28397860
genes like me logo Genes that share ontologies with GPATCH3: view

No data available for Pathways by source and SIGNOR curated interactions for GPATCH3 Gene

Drugs & Compounds for GPATCH3 Gene

No Compound Related Data Available

Transcripts for GPATCH3 Gene

mRNA/cDNA for GPATCH3 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GPATCH3 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b
SP1: - -
SP2:
SP3:
SP4:
SP5: -

Relevant External Links for GPATCH3 Gene

GeneLoc Exon Structure for
GPATCH3

Expression for GPATCH3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GPATCH3 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GPATCH3 Gene



Protein tissue co-expression partners for GPATCH3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GPATCH3

SOURCE GeneReport for Unigene cluster for GPATCH3 Gene:

Hs.10903

mRNA Expression by UniProt/SwissProt for GPATCH3 Gene:

Q96I76-GPTC3_HUMAN
Tissue specificity: Expressed in ocular tissues including retinal pigment epithelium, cornea, ciliary muscle and non-pigmented ciliary epithelium. Also expressed in optic nerve, cartilage, skin and lymph node.

Evidence on tissue expression from TISSUES for GPATCH3 Gene

  • Nervous system(4.8)
  • Skin(4.1)
genes like me logo Genes that share expression patterns with GPATCH3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for GPATCH3 Gene

Orthologs for GPATCH3 Gene

This gene was present in the common ancestor of animals.

Orthologs for GPATCH3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GPATCH3 31 30
  • 99.62 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GPATCH3 31 30
  • 87.99 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GPATCH3 31 30
  • 86.33 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gpatch3 30
  • 84.29 (n)
mouse
(Mus musculus)
Mammalia Gpatch3 17 31 30
  • 84.07 (n)
oppossum
(Monodelphis domestica)
Mammalia GPATCH3 31
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves GPATCH3 31 30
  • 66.09 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GPATCH3 31
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gpatch3 30
  • 61.39 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16274 30
zebrafish
(Danio rerio)
Actinopterygii gpatch3 31 30
  • 62.39 (n)
OneToOne
Dr.8730 30
worm
(Caenorhabditis elegans)
Secernentea K07B1.7 31 30
  • 48.18 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 43 (a)
OneToOne
Cin.7955 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7955 30
Species where no ortholog for GPATCH3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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 GPATCH3 Gene

ENSEMBL:
Gene Tree for GPATCH3 (if available)
TreeFam:
Gene Tree for GPATCH3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GPATCH3: view image

Paralogs for GPATCH3 Gene

No data available for Paralogs for GPATCH3 Gene

Variants for GPATCH3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GPATCH3 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs376709877 Uncertain Significance: not provided. - 26,891,164(-) C/Tp.Gly475Glu MISSENSE_VARIANT
rs35243557 - p.Asn234Ser
rs764461662 - p.Val23Met
rs879261101 - p.Arg137Cys

Additional dbSNP identifiers (rs#s) for GPATCH3 Gene

Structural Variations from Database of Genomic Variants (DGV) for GPATCH3 Gene

Variant ID Type Subtype PubMed ID
nsv1000012 CNV gain 25217958
nsv834524 CNV gain+loss 17160897

Variation tolerance for GPATCH3 Gene

Residual Variation Intolerance Score: 58.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.92; 35.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GPATCH3 Gene

Human Gene Mutation Database (HGMD)
GPATCH3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPATCH3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPATCH3 Gene

Disorders for GPATCH3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GPATCH3 Gene - From: GeneCards

Disorder Aliases PubMed IDs
corneal edema
  • corneal oedema
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GPTC3_HUMAN
  • Note=GPATCH3 variants may be involved in the pathogenesis of congenital glaucoma, an ocular disease characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. {ECO:0000269 PubMed:28397860}.

Additional Disease Information for GPATCH3

genes like me logo Genes that share disorders with GPATCH3: view

No data available for Genatlas for GPATCH3 Gene

Publications for GPATCH3 Gene

  1. Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development. (PMID: 28397860) Ferre-Fernández JJ … Escribano J (Scientific reports 2017) 3 4 54
  2. GPATCH3 negatively regulates RLR-mediated innate antiviral responses by disrupting the assembly of VISA signalosome. (PMID: 28414768) Nie Y … Wang YY (PLoS pathogens 2017) 3 4 54
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for GPATCH3 Gene

Sources for GPATCH3 Gene