TSSK6 testis specific serine kinase 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TSSK6provided by HGNC
Official Full Name: testis specific serine kinase 6provided by HGNC
Primary source: HGNC:HGNC:30410
See related: Ensembl:ENSG00000178093 MIM:610712; AllianceGenome:HGNC:30410
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: CT72; SSTK; TSSK4; FKSG82
Summary: This intronless gene encodes a member of the CAMK (calcium/calmodulin-dependent) serine/threonine protein kinase family. The encoded kinase has a broad expression pattern but is described as testis-specific due to effects on fertility. Male mice which lack the gene encoding a highly similar protein are sterile and have morphologically abnormal sperm. [provided by RefSeq, Jan 2012]
Orthologs: mouse all
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Genomic context

Location:: 19p13.11

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (19514219..19515548, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (19651706..19653035, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (19625028..19626357, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

findings, for the first time, suggested an association of c.822+126T>G/C in TSSK6 with spermatogenic impairment in humans in which allele T may be a risk factor for male infertility, while alleles C and G may decrease susceptibility to male infertility
Title: c.822+126T>G/C: a novel triallelic polymorphism of the TSSK6 gene associated with spermatogenic impairment in a Chinese population.
Observational study of gene-disease association. (HuGE Navigator)
Title: c.822+126T>G/C: a novel triallelic polymorphism of the TSSK6 gene associated with spermatogenic impairment in a Chinese population.
results demonstrate that SSTK is required for proper postmeiotic chromatin remodeling and male fertility
Title: Identification and characterization of SSTK, a serine/threonine protein kinase essential for male fertility.

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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
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. 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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables magnesium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in protein phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in sperm DNA condensation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: testis-specific serine/threonine-protein kinase 6

Names: TSK-6; cancer/testis antigen 72; serine/threonine protein kinase SSTK; small serine/threonine kinase; testis secretory sperm-binding protein Li 205a

NP_114426.1

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.

Genomic

NG_033078.1 RefSeqGene

Range

5113..6442

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_032037.4 → NP_114426.1 testis-specific serine/threonine-protein kinase 6

See identical proteins and their annotated locations for NP_114426.1

Status: REVIEWED

Source sequence(s)

AA608857, AF348077

Consensus CDS

CCDS12403.1

UniProtKB/Swiss-Prot

B2R9F8, Q6ZMC4, Q96LJ4, Q9BXA6

UniProtKB/TrEMBL

A0A024R7Q5

Related

ENSP00000466477.1, ENST00000585580.4

Conserved Domains (1) summary

cd14164
Location:11 → 267

STKc_TSSK6-like; Catalytic domain of testis-specific serine/threonine kinase 6 and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

19514219..19515548 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

19651706..19653035 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001002908.1: Suppressed sequence

Description

NM_001002908.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.