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    PRSS54 serine protease 54 [ Homo sapiens (human) ]

    Gene ID: 221191, updated on 2-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 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 variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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