STK19 serine/threonine kinase 19 [Homo sapiens (human)] - Gene

Summary

Official Symbol: STK19provided by HGNC
Official Full Name: serine/threonine kinase 19provided by HGNC
Primary source: HGNC:HGNC:11398
See related: Ensembl:ENSG00000204344 MIM:604977; AllianceGenome:HGNC:11398
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: G11; RP1; D6S60; D6S60E; HLA-RP1
Summary: This gene encodes a serine/threonine kinase which localizes predominantly to the nucleus. Its specific function is unknown; it is possible that phosphorylation of this protein is involved in transcriptional regulation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6 and expresses two transcript variants. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in adrenal (RPKM 19.3), testis (RPKM 9.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.33

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (31971175..31981446)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (31824380..31834652)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (31938952..31949223)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

STK19 is a DNA/RNA-binding protein critical for DNA damage repair and cell proliferation.
Title: STK19 is a DNA/RNA-binding protein critical for DNA damage repair and cell proliferation.
STK19: a new target for NRAS-driven cancer.
Title: STK19: a new target for NRAS-driven cancer.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Polymorphisms in innate immunity genes and risk of childhood leukemia.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Host determinants of HIV-1 control in African Americans.
Observational study of gene-disease association. (HuGE Navigator)
Title: Risk of meningioma and common variation in genes related to innate immunity.

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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

EBI GWAS Catalog

Description
Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed
Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

CYP21A2_2362 (e-PCR)
- UniSTS:280636

WI-16314 (e-PCR)
- UniSTS:65600

SHGC-12566 (e-PCR)
- UniSTS:27784

NoName (e-PCR)
- UniSTS:494732

RH11436 (e-PCR)
- UniSTS:85393

WI-7720 (e-PCR)
- UniSTS:38571

RH36425 (e-PCR)
- UniSTS:3021

AL035178 (e-PCR)
- UniSTS:94669

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in positive regulation of Ras protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of Ras protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in protein phosphorylation	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleus	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: inactive serine/threonine-protein kinase 19

Names: MHC class III HLA-RP1; nuclear serine/threonine protein kinase; serine/threonine-protein kinase 19

NP_004188.2

EC 2.7.11.1

NP_115830.1

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.

mRNA and Protein(s)

NM_004197.2 → NP_004188.2 inactive serine/threonine-protein kinase 19 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) uses an alternate splice site in the coding region, compared to variant 2. It encodes isoform 1 which is shorter compared to isoform 2. Although isoforms 1 and 2 differ in the kinase domain, it appears that there is no difference in kinase activity between isoforms 1 and 2.

Source sequence(s)

AL645922

Consensus CDS

CCDS34417.2

UniProtKB/Swiss-Prot

A6NF95, A6NFW8, B0QZR5, P49842, Q13159, Q31617, Q5JP77, Q5ST72, Q5ST75

Related

ENSP00000509445.1, ENST00000685781.1

Conserved Domains (1) summary

pfam10494
Location:28 → 251

Stk19; Serine-threonine protein kinase 19
NM_032454.1 → NP_115830.1 inactive serine/threonine-protein kinase 19 isoform 2

See identical proteins and their annotated locations for NP_115830.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2). Although isoforms 1 and 2 differ in the kinase domain, it appears that there is no difference in kinase activity between isoforms 1 and 2.

Source sequence(s)

AL049547

UniProtKB/TrEMBL

A0A1U9X8L3

Conserved Domains (1) summary

pfam10494
Location:138 → 365

Stk19; Serine-threonine protein kinase 19

RNA

NR_026717.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) is alternatively spliced in the 5' region, compared to variant 2. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

BC110347

Related

ENST00000466132.5