Gene Gene information from NCBI Gene database.
Entrez ID 5681
Gene name Protein serine kinase H1
Gene symbol PSKH1
Synonyms (NCBI Gene)
PFIC13
Chromosome 16
Chromosome location 16q22.1
miRNA miRNA information provided by mirtarbase database.
673
miRTarBase ID miRNA Experiments Reference
MIRT022912 hsa-miR-124-3p Microarray 18668037
MIRT045428 hsa-miR-149-5p CLASH 23622248
MIRT144019 hsa-miR-15a-5p HITS-CLIP 22473208
MIRT144028 hsa-miR-15b-5p HITS-CLIP 22473208
MIRT144020 hsa-miR-16-5p HITS-CLIP 22473208
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IBA
GO:0004674 Function Protein serine/threonine kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IMP 39132680
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
177015 9529 ENSG00000159792
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P11801
Protein name Serine/threonine-protein kinase H1 (EC 2.7.11.1) (Protein serine kinase H1) (PSK-H1)
Protein function Serine/threonine protein kinase that may be involved in the regulation of pre-mRNA processing. It may phosphorylate components of nuclear splice factor compartments (SFC), such as non-snRNP splicing factors containing a serine/arginine-rich doma
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 98 355 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues and cell lines tested with the highest level of abundance in testis. {ECO:0000269|PubMed:11087665}.
Sequence
Sequence length 424
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 13 ClinVar, HPO
ClinVar, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IDIOPATHIC PULMONARY FIBROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Colorectal Neoplasms Associate 26486455
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Associate 22761715
★☆☆☆☆
Found in Text Mining only