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PRSS55 serine protease 55 [ Homo sapiens (human) ]

Gene ID: 203074, updated on 5-Mar-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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Location:
8p23.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (10525532..10554166)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (9184962..9213620, complement)
105.20220307 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
  • 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 IEA
Inferred from Electronic Annotation
more info
  
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/Swiss-Prot
    Q6UWB4
    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
    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_2023_10

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

    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

    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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