Gene Gene information from NCBI Gene database.
Entrez ID 27238
Gene name G-patch domain and KOW motifs
Gene symbol GPKOW
Synonyms (NCBI Gene)
GPATC5GPATCH5Mos2Spp2T54
Chromosome X
Chromosome location Xp11.23
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
miRNA miRNA information provided by mirtarbase database.
323
miRTarBase ID miRNA Experiments Reference
MIRT697113 hsa-miR-4428 HITS-CLIP 23313552
MIRT697112 hsa-miR-3173-3p HITS-CLIP 23313552
MIRT697111 hsa-miR-6891-5p HITS-CLIP 23313552
MIRT697110 hsa-miR-34b-3p HITS-CLIP 23313552
MIRT697109 hsa-miR-4695-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IBA
GO:0000398 Process MRNA splicing, via spliceosome IEA
GO:0000398 Process MRNA splicing, via spliceosome IMP 25296192
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding IDA 21880142
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
301003 30677 ENSG00000068394
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92917
Protein name G-patch domain and KOW motifs-containing protein (G-patch domain-containing protein 5) (Protein MOS2 homolog) (Protein T54)
Protein function RNA-binding protein involved in pre-mRNA splicing. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable).
PDB 7DVQ , 7QTT , 8CH6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12656 G-patch_2 149 211 G-patch domain Domain
PF00467 KOW 243 274 KOW motif Family
Sequence
MADSKEGVLPLTAASTAPISFGFTRTSARRRLADSGDGAGPSPEEKDFLKTVEGRELQSV
KPQEAPKELVIPLIQNGHRRQPPARPPGPSTDTGALADGVVSQAVKELIAESKKSLEERE
NAGVDPTLAIPMIQKGCTPSGEGADSEPRAETVPEEANYEAVPVEAYGLAMLRGMGWKPG
EGIGRTFNQVVKPRVNSLRPKGLGLGANLTE
AQALTPTGPSRMPRPDEEQEKDKEDQPQG
LVPGGAVVVLSGPHRGLYGKVEGLDPDNVRAMVRLAVGSRVVTVSEYYLRPVSQQEFDKN
TLDLRQQNGTASSRKTLWNQELYIQQDNSERKRKHLPDRQDGPAAKSEKAAPRSQHWLHR
DLRVRFVDNMYKGGQYYNTKMIIEDVLSPDTCVCRTDEGRVLEGLREDMLETLVPKAEGD
RVMVVLGPQTGRVGHLLSRDRARSRALVQLPRENQVVELHYDAICQYMGPSDTDDD
Sequence length 476
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    mRNA Splicing - Major Pathway
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
12
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
GPKOW-related disorder Uncertain significance; Benign; Likely benign rs140674609, rs34057359, rs73634205, rs149060491, rs34513173, rs144250502, rs142444196 RCV003946375
RCV003982335
RCV003982534
RCV003964348
RCV003981984
RCV003930579
RCV003932916
Hepatocellular carcinoma Likely benign rs781887815 RCV005927652
Holoprosencephaly-hypokinesia-congenital contractures syndrome Uncertain significance rs2520304315 RCV003985202
Thyroid cancer, nonmedullary, 1 Uncertain significance; Likely benign rs782481803, rs781887815 RCV005932494
RCV005927653