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

Summary

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
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
Expression: Ubiquitous expression in testis (RPKM 16.5), ovary (RPKM 12.3) and 25 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 16q22.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
109.20200815	current	GRCh38.p13 (GCF_000001405.39)	16	NC_000016.10 (67893254..67929676)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (67927175..67963581)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A minimal region required for proper Golgi targeting of PSKH1 was identified within the first 29 amino acids; and structural and regulatory role of PSKH1 in maintenance of the Golgi apparatus is determined
Title: Mutants of the protein serine kinase PSKH1 disassemble the Golgi apparatus.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available
Biological, clinical and population relevance of 95 loci for blood lipids. GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D16S2961 (e-PCR)
- UniSTS:60205

CTRL_8289 (e-PCR)
- UniSTS:471406

PSKH1_8573 (e-PCR)
- UniSTS:467852

SHGC-63628 (e-PCR)
- UniSTS:34447

RH70891 (e-PCR)
- UniSTS:49055

Homology

Homologs of the PSKH1 gene: The PSKH1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, chicken, zebrafish, C.elegans, and frog.
Orthologs from Annotation Pipeline: 333 organisms have orthologs with human gene PSKH1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein serine kinase activity	IEA Inferred from Electronic Annotation more info
protein threonine kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
determination of left/right symmetry	IEA Inferred from Electronic Annotation more info
heart development	IEA Inferred from Electronic Annotation more info
protein phosphorylation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
Golgi apparatus	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
microtubule organizing center	IEA Inferred from Electronic Annotation more info
nuclear speck	IEA Inferred from Electronic Annotation more info
nucleoplasm	IDA Inferred from Direct Assay more info
plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: serine/threonine-protein kinase H1

Names: PSK-H1

NP_006733.1

EC 2.7.11.1

NCBI Reference Sequences (RefSeq)

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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.