GPATCH8

Also known as GPATC8, KIAA0553, G-patch domain containing 8

G patch domain-containing protein 8 is a protein that in humans is encoded by the GPATCH8 gene.

In the Vinony graph

Vinony's link graph records 2 inbound references to GPATCH8, and connects out to PubMed, human chromosome 17 and Ensembl genome database project.

It is catalogued under the topic Genes on human chromosome 17.

Vinony links it to 5 Wikipedia language editions.

Gene data

GPATCH8

Name: G-patch domain containing 8
Type: protein-coding
Position: 44,395,281–44,503,639 (−)
Aliases: GPATC8, KIAA0553
Ensembl: ENSG00000186566
RefSeq RNA: NM_001002909.4, NM_001304939.2, NM_001304940.2, NM_001304941.2, NM_001304942.2
RefSeq protein: NP_001002909.1, NP_001291868.1, NP_001291869.1, NP_001291870.1, NP_001291871.1

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].

Gene Ontology

Molecular function

nucleic acid binding RNA binding mRNA binding protein binding

Cellular component

nucleus

via MyGene.info

Gene · Ensembl

G-patch domain containing 8

Symbol: GPATCH8
Biotype: Protein coding
Organism: Homo sapiens
Location: 17:44,395,281-44,503,639
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of: gene

Show 8 more facts

HomoloGene ID: 46117
found in taxon: Homo sapiens
exact match: identifiers.org/ncbigene/23131
genomic end: 42580798
genomic start: 44395281
chromosome: human chromosome 17
cytogenetic location: 17q21.31
expressed in: inferior olivary nucleus

Sources (4)

via Wikidata · CC0

~1 min read

Encyclopedic overview

3 sections

Contents

Hyperuricemia
References
Further reading

G patch domain-containing protein 8 is a protein that in humans is encoded by the GPATCH8 gene.

==Hyperuricemia== Hyperuricemia cosegregating with osteogenesis imperfecta has been shown to be associated with a mutation in GPATCH8 using exome sequencing

Excerpted from Wikipedia’s “GPATCH8” article, available under the CC BY-SA 4.0 licence.