GPKOW G-patch domain and KOW motifs [Homo sapiens (human)] - Gene

Summary

Official Symbol: GPKOWprovided by HGNC
Official Full Name: G-patch domain and KOW motifsprovided by HGNC
Primary source: HGNC:HGNC:30677
See related: Ensembl:ENSG00000068394 MIM:301003; AllianceGenome:HGNC:30677
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: T54; Mos2; Spp2; GPATC5; GPATCH5
Summary: This gene encodes a putative RNA-binding protein containing G-patch and KOW (Kyprides, Ouzounis, Woese) domains. The encoded protein interacts directly with protein kinase A and protein kinase X and is also found associated with the spliceosome. [provided by RefSeq, Aug 2013]
Expression: Ubiquitous expression in brain (RPKM 10.0), fat (RPKM 7.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp11.23

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (49113407..49123735, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (48525155..48536289, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (48970345..48980085, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GPKOW c.331+5G>A variant disrupts normal splicing of its pre-mRNAs and causes male-lethal microcephaly with intrauterine growth restriction.
Title: Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction.
Data show that G patch domain and KOW motifs protein (GPKOW )interacted directly with the DEAH-box protein 16 (DHX16/hPRP2) and with RNA.
Title: GPKOW is essential for pre-mRNA splicing in vitro and suppresses splicing defect caused by dominant-negative DHX16 mutation in vivo.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH18203 (e-PCR)
- UniSTS:14603

A003P15 (e-PCR)
- UniSTS:55978

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in mRNA splicing, via spliceosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in mRNA splicing, via spliceosome	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of spliceosomal complex	IBA Inferred from Biological aspect of Ancestor more info
part_of spliceosomal complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: G-patch domain and KOW motifs-containing protein

Names: G patch domain and KOW motifs-containing protein; protein MOS2 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_021310.2 RefSeqGene

Range

5008..15336

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_015698.6 → NP_056513.2 G-patch domain and KOW motifs-containing protein

See identical proteins and their annotated locations for NP_056513.2

Status: REVIEWED

Source sequence(s)

BC003148, BE795098

Consensus CDS

CCDS35251.1

UniProtKB/Swiss-Prot

Q59EK5, Q92917, Q9BQA8

Related

ENSP00000156109.5, ENST00000156109.7

Conserved Domains (3) summary

cd13152
Location:244 → 300

KOW_GPKOW_A; KOW motif of the "G-patch domain and KOW motifs-containing protein" (GPKOW) repeat A

cd13153
Location:419 → 469

KOW_GPKOW_B; KOW motif of the "G-patch domain and KOW motifs-containing protein" (GPKOW) repeat B

pfam12656
Location:154 → 208

G-patch_2; G-patch domain