1. Gene
  2. GPATCH8 - G-patch domain containing 8 Gene

GPATCH8 - G-patch domain containing 8 Gene

Homo sapiens

Also known as GPATC8; KIAA0553

Gene ID: 23131 | Gene type: protein coding

About GPATCH8

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:44,395,281-44,503,406 (from NCBI)

This gene has 11 transcripts (splice variants), 205 orthologues and 2 paralogues. Ubiquitous expression in testis (RPKM 2.5), ovary (RPKM 2.5) and 25 other tissues.

Summary

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]

GPATCH8 Products(6)

mRNA Protein Name
NM_001002909.4 NP_001002909.1 G patch domain-containing protein 8 isoform 1
NM_001304939.2 NP_001291868.1 G patch domain-containing protein 8 isoform 2
NM_001304940.2 NP_001291869.1 G patch domain-containing protein 8 isoform 3
NM_001304941.2 NP_001291870.1 G patch domain-containing protein 8 isoform 3
NM_001304942.2 NP_001291871.1 G patch domain-containing protein 8 isoform 3
NM_001304943.2 NP_001291872.1 G patch domain-containing protein 8 isoform 3

GPATCH8 Protein Structure

G-patch

G-patch: G-patch domain (41 - 82)

zf-C2H2_jaz

zf-C2H2_jaz: Zinc-finger double-stranded RNA-binding (136 - 163)

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  • 1502 a.a.
Protein Preferred Names Protein Names

G patch domain-containing protein 8

Related Diseases

Diseases Alias
Hyperuricemia

Blood Urate Raized

Uricacidemia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus GPATCH8 VGNC VGNC:29520
Rattus norvegicus GPATCH8 RGD RGD:1596463
Macaca mulatta GPATCH8 VGNC VGNC:73026
Canis familiaris GPATCH8 VGNC VGNC:41369
Mus musculus GPATCH8 MGD MGI:1918667
Felis catus GPATCH8 VGNC VGNC:99071