TMPRSS12 transmembrane serine protease 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMPRSS12provided by HGNC
Official Full Name: transmembrane serine protease 12provided by HGNC
Primary source: HGNC:HGNC:28779
See related: Ensembl:ENSG00000186452 AllianceGenome:HGNC:28779
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: CT151
Summary: Predicted to enable serine-type endopeptidase activity. Predicted to be involved in acrosome assembly and positive regulation of sperm capacitation. Predicted to act upstream of or within binding activity of sperm to zona pellucida and protein processing. Predicted to be located in acrosomal vesicle. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward testis (RPKM 13.9) See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.12

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (50842926..50887884)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (50806068..50851138)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (51236709..51281667)

Chromosome 12 - NC_000012.12 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?

Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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

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 serine-type endopeptidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in acrosome assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in binding of sperm to zona pellucida	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of sperm capacitation	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein processing	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in acrosomal vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: transmembrane protease serine 12

Names: testicular tissue protein Li 208; transmembrane (C-terminal) protease, serine 12; transmembrane protease, serine 12

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_182559.3 → NP_872365.2 transmembrane protease serine 12 precursor

Status: VALIDATED

Source sequence(s)

AC008121, AC013244

Consensus CDS

CCDS44881.1

UniProtKB/Swiss-Prot

B9ZVX2, Q86WS5

UniProtKB/TrEMBL

A0A140VJY1

Related

ENSP00000381476.3, ENST00000398458.4

Conserved Domains (1) summary

cd00190
Location:78 → 316

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...