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Aliases for GPATCH8 Gene

Aliases for GPATCH8 Gene

  • G Patch Domain Containing 8 2 3
  • KIAA0553 2 3 4
  • GPATC8 3 4

External Ids for GPATCH8 Gene

Previous HGNC Symbols for GPATCH8 Gene

  • KIAA0553
  • GPATC8

Previous GeneCards Identifiers for GPATCH8 Gene

  • GC17M039831
  • GC17M042472
  • GC17M038236

Summaries for GPATCH8 Gene

Entrez Gene Summary for GPATCH8 Gene

  • The protein encoded by this gene contains an RNA-processing domain, a zinc finger domain, a lysine-rich region and a serine-rich region. A mutation in the serine-rich region of the protein is thought to be associated with hyperuricemia (PMID: 21594610). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]

GeneCards Summary for GPATCH8 Gene

GPATCH8 (G Patch Domain Containing 8) is a Protein Coding gene. Diseases associated with GPATCH8 include hyperuricemia and osteogenesis imperfecta. GO annotations related to this gene include nucleic acid binding and poly(A) RNA binding. An important paralog of this gene is ZNF804A.

Gene Wiki entry for GPATCH8 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GPATCH8 Gene

Genomics for GPATCH8 Gene

Regulatory Elements for GPATCH8 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GPATCH8 Gene

Chromosome:
17
Start:
44,395,277 bp from pter
End:
44,503,602 bp from pter
Size:
108,326 bases
Orientation:
Minus strand

Genomic View for GPATCH8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for GPATCH8 Gene

Proteins for GPATCH8 Gene

  • Protein details for GPATCH8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKJ3-GPTC8_HUMAN
    Recommended name:
    G patch domain-containing protein 8
    Protein Accession:
    Q9UKJ3
    Secondary Accessions:
    • B9EGP9
    • O60300
    • Q8TB99

    Protein attributes for GPATCH8 Gene

    Size:
    1502 amino acids
    Molecular mass:
    164197 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI36630.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=BAA25479.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for GPATCH8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GPATCH8 Gene

Proteomics data for GPATCH8 Gene at MOPED

Post-translational modifications for GPATCH8 Gene

  • Ubiquitination at Lys 1322 and Lys 1338
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GPATCH8 Gene

Domains & Families for GPATCH8 Gene

Gene Families for GPATCH8 Gene

Protein Domains for GPATCH8 Gene

Suggested Antigen Peptide Sequences for GPATCH8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UKJ3

UniProtKB/Swiss-Prot:

GPTC8_HUMAN :
  • Contains 1 G-patch domain.
  • Contains 1 C2H2-type zinc finger.
Domain:
  • Contains 1 G-patch domain.
Similarity:
  • Contains 1 C2H2-type zinc finger.
genes like me logo Genes that share domains with GPATCH8: view

Function for GPATCH8 Gene

Gene Ontology (GO) - Molecular Function for GPATCH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding --
GO:0005515 protein binding IPI 16713569
GO:0044822 poly(A) RNA binding IDA 22681889
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with GPATCH8: view
genes like me logo Genes that share phenotypes with GPATCH8: view

Animal Model Products

CRISPR Products

miRNA for GPATCH8 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GPATCH8

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for GPATCH8 Gene

Localization for GPATCH8 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GPATCH8 Gene COMPARTMENTS Subcellular localization image for GPATCH8 gene
Compartment Confidence
cytosol 2
mitochondrion 2
nucleus 2

Gene Ontology (GO) - Cellular Components for GPATCH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with GPATCH8: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GPATCH8 Gene

Pathways & Interactions for GPATCH8 Gene

SuperPathways for GPATCH8 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GPATCH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with GPATCH8: view

No data available for Pathways by source and SIGNOR curated interactions for GPATCH8 Gene

Drugs & Compounds for GPATCH8 Gene

No Compound Related Data Available

Transcripts for GPATCH8 Gene

Unigene Clusters for GPATCH8 Gene

G patch domain containing 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GPATCH8

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GPATCH8 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1: - - - -
SP2:
SP3: -
SP4:

Relevant External Links for GPATCH8 Gene

GeneLoc Exon Structure for
GPATCH8
ECgene alternative splicing isoforms for
GPATCH8

Expression for GPATCH8 Gene

mRNA expression in normal human tissues for GPATCH8 Gene

Protein differential expression in normal tissues from HIPED for GPATCH8 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (22.3), Liver (20.8), and Lung (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GPATCH8 Gene



SOURCE GeneReport for Unigene cluster for GPATCH8 Gene Hs.463129

genes like me logo Genes that share expression patterns with GPATCH8: view

Protein tissue co-expression partners for GPATCH8 Gene

- Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GPATCH8 Gene

Orthologs for GPATCH8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GPATCH8 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GPATCH8 35
  • 91.09 (n)
  • 93.47 (a)
GPATCH8 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GPATCH8 35
  • 91.8 (n)
  • 94.4 (a)
GPATCH8 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gpatch8 35
  • 87.81 (n)
  • 89.77 (a)
Gpatch8 16
Gpatch8 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GPATCH8 35
  • 99.73 (n)
  • 99.6 (a)
GPATCH8 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gpatch8 35
  • 85.09 (n)
  • 86.18 (a)
oppossum
(Monodelphis domestica)
Mammalia GPATCH8 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GPATCH8 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves GPATCH8 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GPATCH8 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10990 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.1934 35
zebrafish
(Danio rerio)
Actinopterygii wufj32a09 35
gpatch8 36
  • 47 (a)
ManyToMany
Species with no ortholog for GPATCH8:
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for GPATCH8 Gene

ENSEMBL:
Gene Tree for GPATCH8 (if available)
TreeFam:
Gene Tree for GPATCH8 (if available)

Paralogs for GPATCH8 Gene

Paralogs for GPATCH8 Gene

genes like me logo Genes that share paralogs with GPATCH8: view

Variants for GPATCH8 Gene

Sequence variations from dbSNP and Humsavar for GPATCH8 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs14977 -- 44,395,592(-) TGGAA(A/G)AATGA utr-variant-3-prime
rs741902 - 44,398,949(-) AGGCC(A/G)GGGAG missense, reference
rs760339 - 44,398,302(-) ATAGC(A/G)GCAGT reference, missense
rs885757 -- 44,396,957(+) CCACA(C/T)TTTTG utr-variant-3-prime
rs885758 -- 44,396,956(-) CACAT(A/T)TTTGG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for GPATCH8 Gene

Variant ID Type Subtype PubMed ID
nsv908281 CNV Gain+Loss 21882294
nsv908282 CNV Gain 21882294
nsv908283 CNV Gain+Loss 21882294
nsv820313 CNV Loss 19587683
nsv828018 CNV Loss 20364138
nsv908284 CNV Loss 21882294
nsv908285 CNV Loss 21882294

Variation tolerance for GPATCH8 Gene

Residual Variation Intolerance Score: 10.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.48; 55.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GPATCH8 Gene

HapMap Linkage Disequilibrium report
GPATCH8
Human Gene Mutation Database (HGMD)
GPATCH8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPATCH8 Gene

Disorders for GPATCH8 Gene

MalaCards: The human disease database

(2) MalaCards diseases for GPATCH8 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hyperuricemia
  • uricacidemia
osteogenesis imperfecta
  • lobstein's syndrome
- elite association

Relevant External Links for GPATCH8

Genetic Association Database (GAD)
GPATCH8
Human Genome Epidemiology (HuGE) Navigator
GPATCH8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GPATCH8
genes like me logo Genes that share disorders with GPATCH8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GPATCH8 Gene

Publications for GPATCH8 Gene

  1. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9628581) Nagase T. … Ohara O. (DNA Res. 1998) 2 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  3. Integrative analysis of kinase networks in TRAIL-induced apoptosis provides a source of potential targets for combination therapy. (PMID: 25852190) So J. … Colwill K. (Sci Signal 2015) 67
  4. BioID-based Identification of Skp Cullin F-box (SCF)I^-TrCP1/2 E3 Ligase Substrates. (PMID: 25900982) Coyaud E. … Raught B. (Mol. Cell Proteomics 2015) 67
  5. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y. … Zou H. (J. Proteomics 2014) 67

Products for GPATCH8 Gene

Sources for GPATCH8 Gene

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