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PRSS54 serine protease 54 [ Homo sapiens (human) ]

Gene ID: 221191, updated on 27-Nov-2024

Summary

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Official Symbol
PRSS54provided by HGNC
Official Full Name
serine protease 54provided by HGNC
Primary source
HGNC:HGNC:26336
See related
Ensembl:ENSG00000103023 AllianceGenome:HGNC:26336
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
CT67; KLKBL4
Summary
This gene encodes a putative serine-type endopeptidase containing the peptidase S1 domain. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]
Expression
Biased expression in testis (RPKM 23.6), brain (RPKM 3.1) and 1 other tissue See more
Orthologs
mouse all
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Genomic context

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See PRSS54 in Genome Data Viewer
Location:
16q21
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (58279997..58295025, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (64075287..64090313, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (58313901..58328929, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 645, pseudogene Neighboring gene Sharpr-MPRA regulatory region 11051 Neighboring gene uncharacterized LOC105371293 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7548 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7549 Neighboring gene cilia and flagella associated protein 263 Neighboring gene Sharpr-MPRA regulatory region 4701 Neighboring gene Sharpr-MPRA regulatory region 1225 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:58366261-58366762 Neighboring gene RNA, U6 small nuclear 269, pseudogene Neighboring gene RNA, U6 small nuclear 1110, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Rapid evolution of cancer/testis genes on the X chromosome. Stevenson BJ, et al. BMC Genomics, 2007 May 23. PMID 17521433, Free PMC Article
  2. Testis-specific serine protease PRSS54 regulates acrosomal granule localization and sperm head morphogenesis in mice†. Shen C, et al. Biol Reprod, 2022 Oct 11. PMID 35863763
  3. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Testis-specific serine protease PRSS54 regulates acrosomal granule localization and sperm head morphogenesis in micedagger.
    Title: Testis-specific serine protease PRSS54 regulates acrosomal granule localization and sperm head morphogenesis in mice†.
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 Variation Viewer (GRCh37.p13)

General gene information

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Markers

Homology

Clone Names

  • FLJ25339

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
inactive serine protease 54
Names
cancer/testis antigen 67
plasma kallikrein-like protein 4
protease, serine 54
testis tissue sperm-binding protein Li 40a

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_001080492.2 → NP_001073961.1  inactive serine protease 54 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001073961.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode the same protein (isoform 1).
    Source sequence(s)
    AC009107
    Consensus CDS
    CCDS32463.1
    UniProtKB/Swiss-Prot
    Q6PEW0, Q96LN9, Q9NT77
    UniProtKB/TrEMBL
    A0A140VKC3
    Related
    ENSP00000219301.4, ENST00000219301.8
    Conserved Domains (2) summary
    smart00020
    Location:52 → 264
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:52 → 264
    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 ...

  2. NM_001305173.2 → NP_001292102.1  inactive serine protease 54 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001292102.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein (isoform 1).
    Source sequence(s)
    AC009107
    Consensus CDS
    CCDS32463.1
    UniProtKB/Swiss-Prot
    Q6PEW0, Q96LN9, Q9NT77
    UniProtKB/TrEMBL
    A0A140VKC3
    Related
    ENSP00000455024.1, ENST00000567164.6
    Conserved Domains (2) summary
    smart00020
    Location:52 → 264
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:52 → 264
    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 ...

  3. NM_001305174.2 → NP_001292103.1  inactive serine protease 54 isoform 2

    See identical proteins and their annotated locations for NP_001292103.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon in the 5' UTR and uses a downstream start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC009107
    Consensus CDS
    CCDS76882.1
    UniProtKB/TrEMBL
    B4DXX9, F5H6C6
    Related
    ENSP00000437705.1, ENST00000543437.5
    Conserved Domains (1) summary
    cl21584
    Location:9 → 165
    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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    58279997..58295025 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047433779.1 → XP_047289735.1  inactive serine protease 54 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    64075287..64090313 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6PEW0.3 GenPept UniProtKB/Swiss-Prot:Q6PEW0

Gene LinkOut

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