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    PRSS35 serine protease 35 [ Homo sapiens (human) ]

    Gene ID: 167681, updated on 5-Mar-2024

    Summary

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    Official Symbol
    PRSS35provided by HGNC
    Official Full Name
    serine protease 35provided by HGNC
    Primary source
    HGNC:HGNC:21387
    See related
    Ensembl:ENSG00000146250 AllianceGenome:HGNC:21387
    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
    C6orf158; dJ223E3.1
    Summary
    Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in ovary (RPKM 5.2), brain (RPKM 3.9) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    6q14.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (83512534..83525704)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (84735749..84748917)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (84222253..84235423)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:83902947-83903446 Neighboring gene phosphoglucomutase 3 Neighboring gene RWD domain containing 2A Neighboring gene MPRA-validated peak5928 silencer Neighboring gene malic enzyme 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:84004031-84004257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24784 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17358 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:84140986-84142185 Neighboring gene synaptosome associated protein 91 Neighboring gene Sharpr-MPRA regulatory region 13924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17359 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17360 Neighboring gene uncharacterized LOC105377879

    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. Novel cleft susceptibility genes in chromosome 6q. Letra A, et al. J Dent Res, 2010 Sep. PMID 20511563, Free PMC Article
    2. The identification of novel ovarian proteases through the use of genomic and bioinformatic methodologies. Miyakoshi K, et al. Biol Reprod, 2006 Dec. PMID 16870946
    3. Genome-wide association of mood-incongruent psychotic bipolar disorder. Goes FS, et al. Transl Psychiatry, 2012 Oct 23. PMID 23092984, Free PMC Article
    4. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. Floyd BJ, et al. Mol Cell, 2016 Aug 18. PMID 27499296, Free PMC Article
    5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. Hendrickson SL, et al. PLoS One, 2010 Sep 21. PMID 20877624, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. We provide further evidence of the involvement of chromosome 6q in cleft lip/palate and suggest PRSS35 as a novel candidate gene.
      Title: Novel cleft susceptibility genes in chromosome 6q.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    3. Mouse ortholog of human PRSS35 is an ovary-selectively expressed gene.
      Title: The identification of novel ovarian proteases through the use of genomic and bioinformatic methodologies.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association of mood-incongruent psychotic bipolar disorder.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC46520

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    inactive serine protease 35
    Names
    protease, serine 35

    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_001170423.2 → NP_001163894.1  inactive serine protease 35 precursor

      See identical proteins and their annotated locations for NP_001163894.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL121939, AY358661, BC037170, DA251169
      Consensus CDS
      CCDS4999.1
      UniProtKB/Swiss-Prot
      A8K7B3, Q8N3Z0, Q9BQP6
      Conserved Domains (1) summary
      cl21584
      Location:141 → 187
      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_153362.3 → NP_699193.2  inactive serine protease 35 precursor

      See identical proteins and their annotated locations for NP_699193.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL121939, BC037170, DA251169
      Consensus CDS
      CCDS4999.1
      UniProtKB/Swiss-Prot
      A8K7B3, Q8N3Z0, Q9BQP6
      Related
      ENSP00000358714.3, ENST00000369700.4
      Conserved Domains (1) summary
      cl21584
      Location:141 → 187
      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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      83512534..83525704
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      84735749..84748917
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N3Z0.2 GenPept UniProtKB/Swiss-Prot:Q8N3Z0

    Gene LinkOut

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

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