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PSKH1 protein serine kinase H1 [ Homo sapiens (human) ]

Gene ID: 5681, updated on 5-Jul-2025
Official Symbol
PSKH1provided by HGNC
Official Full Name
protein serine kinase H1provided by HGNC
Primary source
HGNC:HGNC:9529
See related
Ensembl:ENSG00000159792 MIM:177015; AllianceGenome:HGNC:9529
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PFIC13
Summary
Enables protein serine/threonine kinase activity. Predicted to act upstream of or within protein phosphorylation. Located in several cellular components, including cilium; cytosol; and nuclear speck. [provided by Alliance of Genome Resources, Jul 2025]
Expression
Ubiquitous expression in testis (RPKM 16.5), ovary (RPKM 12.3) and 25 other tissues See more
Orthologs
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See PSKH1 in Genome Data Viewer
Location:
16q22.1
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (67893254..67929676)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (73689027..73725450)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (67927157..67963579)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:67907171-67907671 Neighboring gene enhancer of mRNA decapping 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67918365-67918874 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67918875-67919382 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7631 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7632 Neighboring gene neuritin 1 like Neighboring gene ReSE screen-validated silencer GRCh37_chr16:67944133-67944345 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67949619-67950142 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67953295-67953800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67960875-67961376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67962749-67963459 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67964222-67964739 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67964740-67965256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10993 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10995 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67973687-67974296 Neighboring gene chymotrypsin like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10998 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67976255-67977154 Neighboring gene proteasome 20S subunit beta 10 Neighboring gene solute carrier family 12 member 4 Neighboring gene lecithin-cholesterol acyltransferase

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Associated conditions

Description Tests
Cholestasis, progressive familial intrahepatic, 13
MedGen: C5975422 OMIM: 620962 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Biological, clinical and population relevance of 95 loci for blood lipids.
EBI GWAS Catalog
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog

Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag The amplified luminescent proximity homogeneous assay (AlphaScreen) identifies the interaction of HIV-1 Gag with PSKH1 PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein serine/threonine kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within determination of left/right symmetry IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within heart development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
located_in centrosome IEA
Inferred from Electronic Annotation
more info
 
located_in cilium IDA
Inferred from Direct Assay
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in nuclear speck IDA
Inferred from Direct Assay
more info
 
located_in nuclear speck IEA
Inferred from Electronic Annotation
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
serine/threonine-protein kinase H1
Names
PSK-H1
NP_006733.1

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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.

mRNA and Protein(s)

  1. NM_006742.3NP_006733.1  serine/threonine-protein kinase H1

    See identical proteins and their annotated locations for NP_006733.1

    Status: VALIDATED

    Source sequence(s)
    AC040162, BC062616, DA429976
    Consensus CDS
    CCDS10851.1
    UniProtKB/Swiss-Prot
    P11801, Q9NY19
    Related
    ENSP00000291041.4, ENST00000291041.6
    Conserved Domains (1) summary
    cd14087
    Location:96355
    STKc_PSKH1; Catalytic domain of the Protein Serine/Threonine kinase H1

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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    67893254..67929676
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    73689027..73725450
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)