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Aliases for GPATCH1 Gene

Aliases for GPATCH1 Gene

  • G-Patch Domain Containing 1 2 3 5
  • Evolutionarily Conserved G-Patch Domain-Containing Protein 3 4
  • Evolutionarily Conserved G Patch Domain Containing 2 3
  • GPATC1 3 4
  • ECGP 3 4
  • G Patch Domain-Containing Protein 1 3

External Ids for GPATCH1 Gene

Previous HGNC Symbols for GPATCH1 Gene

  • GPATC1

Previous GeneCards Identifiers for GPATCH1 Gene

  • GC19P038266
  • GC19P033571
  • GC19P030074

Summaries for GPATCH1 Gene

GeneCards Summary for GPATCH1 Gene

GPATCH1 (G-Patch Domain Containing 1) is a Protein Coding gene. GO annotations related to this gene include nucleic acid binding.

Additional gene information for GPATCH1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GPATCH1 Gene

Genomics for GPATCH1 Gene

Regulatory Elements for GPATCH1 Gene

Enhancers for GPATCH1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H033819 1.9 FANTOM5 Ensembl ENCODE dbSUPER 174.7 +739.8 739763 2 ZFP64 ARID4B SIN3A FEZF1 ZNF302 ZNF416 SP3 ZC3H11A REST SMARCA4 GPATCH1 CEP89 ZNF599 LSM14A KIAA0355 ZNF181 ENSG00000267219 WTIP FAAP24 ENSG00000271049
GH19H033273 1.9 FANTOM5 Ensembl ENCODE dbSUPER 172.4 +194.2 194174 3 FOXA2 MLX ARID4B DMAP1 ZNF2 YY1 ZNF302 ZNF416 FOS ZNF548 GPATCH1 ZNF507 CEP89 LSM14A KIAA0355 PDCD5 WDR88 AKR1B1P7 LOC100996681 RPL21P131
GH19H033247 1.6 Ensembl ENCODE dbSUPER 165.2 +168.0 167991 3 HDGF FOXA2 YBX1 ZNF2 ZBTB7B YY1 ZNF207 FOS ZNF548 REST GPATCH1 CEP89 ZNF507 LSM14A FAAP24 PDCD5 WDR88 AKR1B1P7 LOC100996681 RPL21P131
GH19H033296 1.7 FANTOM5 ENCODE dbSUPER 134.2 +220.5 220526 10 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF416 ZNF143 ZNF548 GPATCH1 ZNF507 CEP89 LSM14A KIAA0355 WDR88 PDCD5 AKR1B1P7 FAAP24 LOC100996681
GH19H033175 1.6 FANTOM5 ENCODE 138.1 +96.3 96261 2 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 ZC3H11A ZFP41 SSRP1 GPATCH1 CEP89 ZNF507 LSM14A WDR88 PDCD5 AKR1B1P7 LOC100996681 RPL21P131 SLC7A10
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GPATCH1 on UCSC Golden Path with GeneCards custom track

Promoters for GPATCH1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000108760 420 1401 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF416 ZNF143 ZNF207 DEK SP3

Genomic Location for GPATCH1 Gene

Chromosome:
19
Start:
33,080,880 bp from pter
End:
33,130,542 bp from pter
Size:
49,663 bases
Orientation:
Plus strand

Genomic View for GPATCH1 Gene

Genes around GPATCH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPATCH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPATCH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPATCH1 Gene

Proteins for GPATCH1 Gene

  • Protein details for GPATCH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BRR8-GPTC1_HUMAN
    Recommended name:
    G patch domain-containing protein 1
    Protein Accession:
    Q9BRR8
    Secondary Accessions:
    • Q8IZV6
    • Q8N3B7
    • Q9NW94

    Protein attributes for GPATCH1 Gene

    Size:
    931 amino acids
    Molecular mass:
    103345 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA91489.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAD39124.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for GPATCH1 Gene

Post-translational modifications for GPATCH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GPATCH1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GPATCH1 Gene

Domains & Families for GPATCH1 Gene

Gene Families for GPATCH1 Gene

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

Protein Domains for GPATCH1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for GPATCH1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BRR8

UniProtKB/Swiss-Prot:

GPTC1_HUMAN :
  • Belongs to the GPATCH1 family.
Family:
  • Belongs to the GPATCH1 family.
genes like me logo Genes that share domains with GPATCH1: view

Function for GPATCH1 Gene

Phenotypes From GWAS Catalog for GPATCH1 Gene

Gene Ontology (GO) - Molecular Function for GPATCH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
genes like me logo Genes that share ontologies with GPATCH1: view
genes like me logo Genes that share phenotypes with GPATCH1: view

Animal Model Products

CRISPR Products

miRNA for GPATCH1 Gene

miRTarBase miRNAs that target GPATCH1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GPATCH1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GPATCH1 Gene

Localization for GPATCH1 Gene

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 GPATCH1 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (1)
  • Nucleoplasm (1)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GPATCH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0071013 catalytic step 2 spliceosome IDA 11991638
genes like me logo Genes that share ontologies with GPATCH1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GPATCH1 Gene

Pathways & Interactions for GPATCH1 Gene

SuperPathways for GPATCH1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GPATCH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome IC 11991638
GO:0006397 mRNA processing IEA --
genes like me logo Genes that share ontologies with GPATCH1: view

No data available for Pathways by source and SIGNOR curated interactions for GPATCH1 Gene

Drugs & Compounds for GPATCH1 Gene

No Compound Related Data Available

Transcripts for GPATCH1 Gene

Unigene Clusters for GPATCH1 Gene

G patch domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GPATCH1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for GPATCH1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20a ·
SP1: - -
SP2: - -
SP3:
SP4: - -
SP5:

ExUns: 20b ^ 21
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for GPATCH1 Gene

GeneLoc Exon Structure for
GPATCH1
ECgene alternative splicing isoforms for
GPATCH1

Expression for GPATCH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GPATCH1 Gene

Protein differential expression in normal tissues from HIPED for GPATCH1 Gene

This gene is overexpressed in Heart (27.4), Adrenal (20.2), Placenta (7.5), and Testis (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GPATCH1 Gene



Protein tissue co-expression partners for GPATCH1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GPATCH1 Gene:

GPATCH1

SOURCE GeneReport for Unigene cluster for GPATCH1 Gene:

Hs.466436

Evidence on tissue expression from TISSUES for GPATCH1 Gene

  • Muscle(4.2)
genes like me logo Genes that share expression patterns with GPATCH1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GPATCH1 Gene

Orthologs for GPATCH1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GPATCH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GPATCH1 33 34
  • 99.21 (n)
dog
(Canis familiaris)
Mammalia GPATCH1 33 34
  • 88.7 (n)
cow
(Bos Taurus)
Mammalia GPATCH1 33 34
  • 88.39 (n)
mouse
(Mus musculus)
Mammalia Gpatch1 33 16 34
  • 83.37 (n)
rat
(Rattus norvegicus)
Mammalia Gpatch1 33
  • 82.94 (n)
oppossum
(Monodelphis domestica)
Mammalia GPATCH1 34
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GPATCH1 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves GPATCH1 33 34
  • 66.59 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia gpatch1 33
  • 62.24 (n)
zebrafish
(Danio rerio)
Actinopterygii gpatch1 33 34
  • 58.14 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8833 34
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea R07E5.1 34
  • 29 (a)
OneToOne
barley
(Hordeum vulgare)
Liliopsida Hv.9863 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.838 33
Species where no ortholog for GPATCH1 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 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 GPATCH1 Gene

ENSEMBL:
Gene Tree for GPATCH1 (if available)
TreeFam:
Gene Tree for GPATCH1 (if available)

Paralogs for GPATCH1 Gene

No data available for Paralogs for GPATCH1 Gene

Variants for GPATCH1 Gene

Sequence variations from dbSNP and Humsavar for GPATCH1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000066832 -- 33,125,535(+) GTGCA(C/T)CACCA intron-variant
rs1000087756 -- 33,112,115(+) CGCTC(A/G)CCACA intron-variant
rs1000249059 -- 33,118,753(+) GTGCC(C/T)ACGGG intron-variant
rs1000281191 -- 33,098,901(+) CTTCC(-/T)TTTTT intron-variant
rs1000320774 -- 33,080,078(+) CGAGA(C/T)CAGCC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for GPATCH1 Gene

Variant ID Type Subtype PubMed ID
esv2077920 CNV deletion 18987734
esv2666093 CNV deletion 23128226
esv2718467 CNV deletion 23290073
esv3556297 CNV deletion 23714750
esv3644181 CNV loss 21293372
nsv1121976 CNV deletion 24896259
nsv472646 CNV novel sequence insertion 20440878
nsv954628 CNV deletion 24416366

Variation tolerance for GPATCH1 Gene

Residual Variation Intolerance Score: 69.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.75; 57.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GPATCH1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPATCH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPATCH1 Gene

Disorders for GPATCH1 Gene

Relevant External Links for GPATCH1

Genetic Association Database (GAD)
GPATCH1
Human Genome Epidemiology (HuGE) Navigator
GPATCH1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GPATCH1

No disorders were found for GPATCH1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GPATCH1 Gene

Publications for GPATCH1 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 60
  4. Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation. (PMID: 28112733) Hendriks IA … Nielsen ML (Nature structural & molecular biology 2017) 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for GPATCH1 Gene

Sources for GPATCH1 Gene

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