U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 27238, updated on 10-Dec-2024

    Summary

    Go to the top of the page Help
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See GPKOW in Genome Data Viewer
    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_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20834 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:48934848-48936047 Neighboring gene Sharpr-MPRA regulatory region 1999 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20835 Neighboring gene PRA1 domain family member 2 Neighboring gene WD repeat domain 45 Neighboring gene RNA, U4 small nuclear 52, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29628 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:48974390-48974501 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:48979755-48980408 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:48980409-48981062 Neighboring gene uncharacterized LOC105373195 Neighboring gene CRISPRi-validated cis-regulatory element chrX.1004 Neighboring gene CRISPRi-validated cis-regulatory element chrX.1005 Neighboring gene CRISPRi-FlowFISH-validated PLP2 regulatory element 1 Neighboring gene RNA, 7SL, cytoplasmic 262, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:49019052-49019751 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20837 Neighboring gene CRISPRi-FlowFISH-validated PLP2 regulatory element 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:49022309-49023254 Neighboring gene CRISPRi-FlowFISH-validated PLP2 regulatory element 10 Neighboring gene MAGI family member, X-linked

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction. Carroll R, et al. Eur J Hum Genet, 2017 Sep. PMID 28612833, Free PMC Article
    2. G-patch domain and KOW motifs-containing protein, GPKOW; a nuclear RNA-binding protein regulated by protein kinase A. Aksaas AK, et al. J Mol Signal, 2011 Aug 31. PMID 21880142, Free PMC Article
    3. GPKOW is essential for pre-mRNA splicing in vitro and suppresses splicing defect caused by dominant-negative DHX16 mutation in vivo. Zang S, et al. Biosci Rep, 2014 Dec 12. PMID 25296192, Free PMC Article
    4. Smad6 is a protein kinase X phosphorylation substrate and is required for HL-60 cell differentiation. Glesne D, et al. Oncogene, 2006 Jul 6. PMID 16491121
    5. Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval. Schindelhauer D, et al. Genome Res, 1996 Nov. PMID 8938429

    See all (71) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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

    Go to the top of the page Help

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    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

    Go to the top of the page Help
    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)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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

    1. NG_021310.2 RefSeqGene

      Range
      5008..15336
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      49113407..49123735 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791820.1 Reference GRCh38.p14 PATCHES

      Range
      272358..283498 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333400.1 → XP_054189375.1  G-patch domain and KOW motifs-containing protein isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      48525155..48536289 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326837.1 → XP_054182812.1  G-patch domain and KOW motifs-containing protein isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92917.2 GenPept UniProtKB/Swiss-Prot:Q92917

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous