Aliases for PSKH1 Gene

Aliases for PSKH1 Gene

  • Protein Serine Kinase H1 2 3 4 5
  • Serine/Threonine-Protein Kinase H1 3 4
  • EC 4 52
  • PSK-H1 3 4
  • EC 2.7.11 52

External Ids for PSKH1 Gene

Previous GeneCards Identifiers for PSKH1 Gene

  • GC16P058622
  • GC16P068304
  • GC16P067662
  • GC16P067703
  • GC16P066484
  • GC16P053800

Summaries for PSKH1 Gene

GeneCards Summary for PSKH1 Gene

PSKH1 (Protein Serine Kinase H1) is a Protein Coding gene. Diseases associated with PSKH1 include Sparganosis. Among its related pathways are mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is PSKH2.

UniProtKB/Swiss-Prot Summary for PSKH1 Gene

  • May be a SFC-associated serine kinase (splicing factor compartment-associated serine kinase) with a role in intranuclear SR protein (non-snRNP splicing factors containing a serine/arginine-rich domain) trafficking and pre-mRNA processing.

Gene Wiki entry for PSKH1 Gene

Additional gene information for PSKH1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PSKH1 Gene

Genomics for PSKH1 Gene

GeneHancer (GH) Regulatory Elements for PSKH1 Gene

Promoters and enhancers for PSKH1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J067892 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.3 290 2.9 ZBTB40 EP300 POLR2G SP1 PHF8 ZFX POLR2A CLOCK ZBTB11 ZBTB26 PSKH1 lnc-CTRL-3 piR-57133-235 DUS2 EDC4 PRMT7 C16orf86 ENKD1 DDX28 DPEP3
GH16J067904 Promoter 0.3 EPDnew 500.4 +11.5 11527 0.1 PSKH1 lnc-CTRL-2
GH16J068077 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 28.8 +192.4 192427 16 FOXK2 HNRNPK ZNF217 EP300 ZSCAN5C SIN3A NRF1 POLR2G USF1 SP1 NFATC3 lnc-DDX28-2 CTCF E2F4 EDC4 PSKH1 ZDHHC1 ENSG00000263276 PRMT7 ENSG00000270165
GH16J067934 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 30.4 +43.0 43013 4 FOXK2 ZBTB40 SIN3A NRF1 MYC POLR2G USF1 SP1 NCOR1 GTF2E2 ENSG00000261884 PSMB10 lnc-PSKH1-1 PSKH1 E2F4 CTCF EDC4 NFATC3 SLC12A4 RANBP10
GH16J068842 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 21 +950.6 950574 2.1 ZBTB40 ZNF217 EP300 CTCF NRF1 TCF12 POLR2G USF1 SP1 NCOR1 TANGO6 EDC4 CHTF8 ENSG00000260290 CENPT NFAT5 SNTB2 ZFP90 ENSG00000263276 PRMT7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PSKH1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PSKH1

Top Transcription factor binding sites by QIAGEN in the PSKH1 gene promoter:
  • CUTL1
  • HEN1
  • NF-1
  • NF-1/L
  • PPAR-alpha
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • SRF
  • SRF (504 AA)

Genomic Locations for PSKH1 Gene

Genomic Locations for PSKH1 Gene
36,425 bases
Plus strand
36,407 bases
Plus strand

Genomic View for PSKH1 Gene

Genes around PSKH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSKH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PSKH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PSKH1 Gene

Proteins for PSKH1 Gene

  • Protein details for PSKH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Serine/threonine-protein kinase H1
    Protein Accession:
    Secondary Accessions:
    • Q9NY19

    Protein attributes for PSKH1 Gene

    424 amino acids
    Molecular mass:
    48035 Da
    Quaternary structure:
    • Homodimer.

neXtProt entry for PSKH1 Gene

Selected DME Specific Peptides for PSKH1 Gene


Post-translational modifications for PSKH1 Gene

Other Protein References for PSKH1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Boster Bio Antibodies for PSKH1
  • Santa Cruz Biotechnology (SCBT) Antibodies for PSKH1

Domains & Families for PSKH1 Gene

Gene Families for PSKH1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for PSKH1 Gene

Suggested Antigen Peptide Sequences for PSKH1 Gene

GenScript: Design optimal peptide antigens:
  • Protein serine kinase H1 (KPSH1_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
genes like me logo Genes that share domains with PSKH1: view

Function for PSKH1 Gene

Molecular function for PSKH1 Gene

UniProtKB/Swiss-Prot Function:
May be a SFC-associated serine kinase (splicing factor compartment-associated serine kinase) with a role in intranuclear SR protein (non-snRNP splicing factors containing a serine/arginine-rich domain) trafficking and pre-mRNA processing.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activity depends on Ca(2+) concentration.
GENATLAS Biochemistry:
protein serine/kinase of unknown function

Enzyme Numbers (IUBMB) for PSKH1 Gene

Phenotypes From GWAS Catalog for PSKH1 Gene

Gene Ontology (GO) - Molecular Function for PSKH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0005515 protein binding IPI 22939624
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with PSKH1: view
genes like me logo Genes that share phenotypes with PSKH1: view

Animal Models for PSKH1 Gene

MGI Knock Outs for PSKH1:
  • Pskh1 Pskh1<tm1b(EUCOMM)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for PSKH1

CRISPR Products

Clone Products

  • Addgene plasmids for PSKH1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PSKH1 Gene

Localization for PSKH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PSKH1 Gene

Golgi apparatus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus speckle. Endoplasmic reticulum membrane; Lipid-anchor. Cell membrane; Lipid-anchor. Cytoplasm. Note=Localized in the brefeldin A-sensitive Golgi compartment, at centrosomes, in the nucleus with a somewhat speckle-like presence, membrane-associated to the endoplasmic reticulum (ER) and the plasma membrane (PM), and more diffusely in the cytoplasm. Found to concentrate in splicing factor compartments (SFCs) within the nucleus of interphase cells. The acylation-negative form may be only cytoplasmic and nuclear. Acylation seems to allow the sequestering to the intracellular membranes. Myristoylation may mediate targeting to the intracellular non-Golgi membranes and palmitoylation may mediate the targeting to the Golgi membranes. Dual acylation is required to stabilize the interaction with Golgi membranes.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PSKH1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
endoplasmic reticulum 5
golgi apparatus 5
cytosol 3
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PSKH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with PSKH1: view

Pathways & Interactions for PSKH1 Gene

PathCards logo

SuperPathways for PSKH1 Gene

SuperPathway Contained pathways
1 mRNA Splicing - Major Pathway
genes like me logo Genes that share pathways with PSKH1: view

Pathways by source for PSKH1 Gene

1 BioSystems pathway for PSKH1 Gene

Gene Ontology (GO) - Biological Process for PSKH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0007368 determination of left/right symmetry IEA --
GO:0007507 heart development IEA --
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with PSKH1: view

No data available for SIGNOR curated interactions for PSKH1 Gene

Drugs & Compounds for PSKH1 Gene

(1) Drugs for PSKH1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(1) Additional Compounds for PSKH1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with PSKH1: view

Transcripts for PSKH1 Gene

mRNA/cDNA for PSKH1 Gene

7 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for PSKH1

Alternative Splicing Database (ASD) splice patterns (SP) for PSKH1 Gene

No ASD Table

Relevant External Links for PSKH1 Gene

GeneLoc Exon Structure for

Expression for PSKH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PSKH1 Gene

Protein differential expression in normal tissues from HIPED for PSKH1 Gene

This gene is overexpressed in Heart (66.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PSKH1 Gene

Protein tissue co-expression partners for PSKH1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PSKH1

SOURCE GeneReport for Unigene cluster for PSKH1 Gene:


mRNA Expression by UniProt/SwissProt for PSKH1 Gene:

Tissue specificity: Expressed in all tissues and cell lines tested with the highest level of abundance in testis.

Evidence on tissue expression from TISSUES for PSKH1 Gene

  • Intestine(4.2)
genes like me logo Genes that share expression patterns with PSKH1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PSKH1 Gene

Orthologs for PSKH1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PSKH1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PSKH1 31 30
  • 99.61 (n)
(Canis familiaris)
Mammalia PSKH1 31 30
  • 91.63 (n)
(Bos Taurus)
Mammalia PSKH1 31 30
  • 90.96 (n)
(Monodelphis domestica)
Mammalia PSKH1 31
  • 90 (a)
(Ornithorhynchus anatinus)
Mammalia PSKH1 31
  • 89 (a)
(Mus musculus)
Mammalia Pskh1 17 31 30
  • 88.36 (n)
(Gallus gallus)
Aves PSKH1 31 30
  • 81.54 (n)
(Anolis carolinensis)
Reptilia PSKH1 31
  • 89 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pskh1 30
  • 70.43 (n)
Str.19522 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.14987 30
(Danio rerio)
Actinopterygii pskh1 31 30
  • 72.95 (n)
wufc44h10 30
(Caenorhabditis elegans)
Secernentea R06A10.4 31 32 30
  • 54.36 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CMK1 31
  • 26 (a)
CMK2 31
  • 23 (a)
KSP1 33
(Zea mays)
Liliopsida Zm.6306 30
(Hordeum vulgare)
Liliopsida Hv.2858 30
(Oryza sativa)
Liliopsida Os.5879 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 63 (a)
Cin.584 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.584 30
Species where no ortholog for PSKH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PSKH1 Gene

Gene Tree for PSKH1 (if available)
Gene Tree for PSKH1 (if available)
Evolutionary constrained regions (ECRs) for PSKH1: view image

Paralogs for PSKH1 Gene Pseudogenes for PSKH1 Gene

genes like me logo Genes that share paralogs with PSKH1: view

Variants for PSKH1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PSKH1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs35552721 - p.Asn301Ser

Additional dbSNP identifiers (rs#s) for PSKH1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PSKH1 Gene

Variant ID Type Subtype PubMed ID
esv21655 CNV loss 19812545
esv2591720 CNV deletion 19546169
esv2670395 CNV deletion 23128226
esv3638894 CNV loss 21293372
esv3638895 CNV loss 21293372
nsv1844 CNV deletion 18451855
nsv442402 CNV loss 18776908
nsv473126 CNV novel sequence insertion 20440878
nsv522852 CNV gain 19592680
nsv524363 CNV loss 19592680

Variation tolerance for PSKH1 Gene

Residual Variation Intolerance Score: 37.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.69; 14.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PSKH1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSKH1 Gene

Disorders for PSKH1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PSKH1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
  • infection by sparganum
- elite association - COSMIC cancer census association via MalaCards
Search PSKH1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PSKH1

genes like me logo Genes that share disorders with PSKH1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PSKH1 Gene

Publications for PSKH1 Gene

  1. Mutants of the protein serine kinase PSKH1 disassemble the Golgi apparatus. (PMID: 14644153) Brede G … Prydz H (Experimental cell research 2003) 3 4 23 54
  2. Biological, clinical and population relevance of 95 loci for blood lipids. (PMID: 20686565) Teslovich TM … Kathiresan S (Nature 2010) 3 41 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. PSKH1, a novel splice factor compartment-associated serine kinase. (PMID: 12466556) Brede G … Prydz H (Nucleic acids research 2002) 3 4 54
  5. Characterization of PSKH1, a novel human protein serine kinase with centrosomal, golgi, and nuclear localization. (PMID: 11087665) Brede G … Prydz H (Genomics 2000) 3 4 54

Products for PSKH1 Gene

Sources for PSKH1 Gene