PSKH1 (protein serine kinase H1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 5681 |
| Gene name | Protein serine kinase H1 |
| Gene symbol | PSKH1 |
| Synonyms (NCBI Gene) |
PFIC13
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| Chromosome | 16 |
| Chromosome location | 16q22.1 |
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miRNA
miRNA information provided by mirtarbase database.
673
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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
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| 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 |
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| Sequence length | 424 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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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)
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