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

Gene ID: 283471, updated on 5-Mar-2024

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 proteolysis. Predicted to act upstream of or within binding activity of sperm to zona pellucida and protein processing. Predicted to be located in acrosomal vesicle. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 13.9) See more
Orthologs
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Genomic context

See TMPRSS12 in Genome Data Viewer
Location:
12q13.12
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (50842926..50887884)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (50806068..50851138)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (51236709..51281667)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4455 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6364 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:51162690-51163190 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:51163191-51163691 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:51180913-51181842 Neighboring gene activating transcription factor 1 Neighboring gene RNA, 7SL, cytoplasmic 519, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:51251231-51251732 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:51251733-51252232 Neighboring gene CRISPRi-validated cis-regulatory element chr12.1615 Neighboring gene MPRA-validated peak1732 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6365 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:51319135-51319678 Neighboring gene Sharpr-MPRA regulatory region 4642 Neighboring gene thiol methyltransferase 1A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:51346409-51346909 Neighboring gene HIG1 hypoxia inducible domain family member 1C Neighboring gene solute carrier family 11 member 2 Neighboring gene MPRA-validated peak1733 silencer Neighboring gene RNA, U7 small nuclear 39 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Clone Names

  • MGC57341

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

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)

  1. NM_182559.3NP_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:78316
    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 ...

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

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    50842926..50887884
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    50806068..50851138
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)