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    PRSS55 serine protease 55 [ Homo sapiens (human) ]

    Gene ID: 203074, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PRSS55provided by HGNC
    Official Full Name
    serine protease 55provided by HGNC
    Primary source
    HGNC:HGNC:30824
    See related
    Ensembl:ENSG00000184647 MIM:615144; AllianceGenome:HGNC:30824
    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
    TSP1; CT153; T-SP1; UNQ9391
    Summary
    This gene encodes a member of a group of membrane-anchored chymotrypsin (S1)-like serine proteases. The enocoded protein is primarily expressed in the Leydig and Sertoli cells of the testis and may be involved in male fertility. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]
    Expression
    Restricted expression toward testis (RPKM 4.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See PRSS55 in Genome Data Viewer
    Location:
    8p23.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (10525532..10554166)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (9184962..9213620, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (10383042..10411676)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901887 Neighboring gene long intergenic non-protein coding RNA 3022 Neighboring gene RNA, U6 small nuclear 729, pseudogene Neighboring gene serine protease 52, pseudogene Neighboring gene serine protease 51 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:10382638-10383436 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:10406483-10407477 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:10412556-10413270 Neighboring gene uncharacterized LOC105379237 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:10449944-10450820 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:10459109-10459704 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:10459705-10460299 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:10469845-10470570 Neighboring gene RP1 like 1 Neighboring gene MPRA-validated peak6901 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:10489151-10489860 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:10493333-10494238 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:10494239-10495144 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:10503027-10503883

    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. Scanning of novel cancer/testis proteins by human testis proteomic analysis. Liu M, et al. Proteomics, 2013 Apr. PMID 23436708
    2. T-SP1: a novel serine protease-like protein predominantly expressed in testis. Neth P, et al. Biol Chem, 2008 Dec. PMID 18844450
    3. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG, et al. PLoS One, 2012. PMID 23251661, Free PMC Article
    4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
    5. 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

    GeneRIFs: Gene References Into Functions

    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
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    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

    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 binding of sperm to zona pellucida ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in acrosomal vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in side of membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    serine protease 55
    Names
    probable serine protease UNQ9391/PRO34284
    protease, serine 55
    testis serine protease 1
    tryptophan/serine protease

    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

    1. NG_027783.1 RefSeqGene

      Range
      4987..18274
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001197020.2 → NP_001183949.1  serine protease 55 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an alternate 3' exon, which results in a frameshift, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC104964, BC033497
      Consensus CDS
      CCDS56523.1
      UniProtKB/TrEMBL
      A0AAG2TL61
      Related
      ENSP00000430459.1, ENST00000522210.1
      Conserved Domains (2) summary
      smart00020
      Location:67 → 247
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:68 → 247
      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_198464.4 → NP_940866.2  serine protease 55 isoform 1 precursor

      See identical proteins and their annotated locations for NP_940866.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC104964, AY358867, BC033497
      Consensus CDS
      CCDS5976.1
      UniProtKB/Swiss-Prot
      E5RJX5, Q6UWB4
      UniProtKB/TrEMBL
      A0AAG2TGX3
      Related
      ENSP00000333003.3, ENST00000328655.8
      Conserved Domains (2) summary
      smart00020
      Location:67 → 295
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:68 → 298
      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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      10525532..10554166
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005272372.5 → XP_005272429.3  serine protease 55 isoform X3

      UniProtKB/TrEMBL
      A0AAG2TL61
      Conserved Domains (1) summary
      smart00020
      Location:67 → 248
      Tryp_SPc; Trypsin-like serine protease

    2. XM_017013182.3 → XP_016868671.2  serine protease 55 isoform X2

      UniProtKB/TrEMBL
      A0AAG2TL61
      Conserved Domains (1) summary
      smart00020
      Location:67 → 247
      Tryp_SPc; Trypsin-like serine protease

    3. XM_047421492.1 → XP_047277448.1  serine protease 55 isoform X1

    RNA

    1. XR_948897.4 RNA Sequence

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p14 PATCHES

      Range
      2792885..2821515 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332238.1 → XP_054188213.1  serine protease 55 isoform X3

    2. XM_054332236.1 → XP_054188211.1  serine protease 55 isoform X4

    3. XM_054332239.1 → XP_054188214.1  serine protease 55 isoform X5

    4. XM_054332235.1 → XP_054188210.1  serine protease 55 isoform X1

    5. XM_054332237.1 → XP_054188212.1  serine protease 55 isoform X2

    RNA

    1. XR_008485755.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      9184962..9213620 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359995.1 → XP_054215970.1  serine protease 55 isoform X3

    2. XM_054359993.1 → XP_054215968.1  serine protease 55 isoform X1

    3. XM_054359994.1 → XP_054215969.1  serine protease 55 isoform X2

    RNA

    1. XR_008487819.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UWB4.2 GenPept UniProtKB/Swiss-Prot:Q6UWB4

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