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    SPINK13 serine peptidase inhibitor Kazal type 13 [ Homo sapiens (human) ]

    Gene ID: 153218, updated on 18-Sep-2024

    Summary

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    Official Symbol
    SPINK13provided by HGNC
    Official Full Name
    serine peptidase inhibitor Kazal type 13provided by HGNC
    Primary source
    HGNC:HGNC:27200
    See related
    Ensembl:ENSG00000214510 MIM:615205; AllianceGenome:HGNC:27200
    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
    LiESP6; SPINK5L3; HESPINTOR; HBVDNAPTP1
    Summary
    Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of acrosome reaction. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
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    Genomic context

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    See SPINK13 in Genome Data Viewer
    Location:
    5q32
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (148268794..148286255)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (148803308..148820769)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (147648357..147665818)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene CAGE-defined high expression enhancer downstream of SPINK6 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 16 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:147609822-147611021 Neighboring gene MARCO like Neighboring gene FBXO38 divergent transcript Neighboring gene piggyBac transposable element derived 4 pseudogene 3 Neighboring gene serine peptidase inhibitor Kazal type 7

    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. The Role of Serine Peptidase Inhibitor Kazal Type 13 (SPINK13) as a Clinicopathological and Prognostic Biomarker in Patients with Clear Cell Renal Cell Carcinoma. Xu WH, et al. Med Sci Monit, 2019 Dec 11. PMID 31825950, Free PMC Article
    2. Novel urokinase-plasminogen activator inhibitor SPINK13 inhibits growth and metastasis of hepatocellular carcinoma in vivo. Wei L, et al. Pharmacol Res, 2019 May. PMID 30862605
    3. Downregulation of SPINK13 Promotes Metastasis by Regulating uPA in Ovarian Cancer Cells. Cai S, et al. Cell Physiol Biochem, 2018. PMID 29439245
    4. Spink13, an epididymis-specific gene of the Kazal-type serine protease inhibitor (SPINK) family, is essential for the acrosomal integrity and male fertility. Ma L, et al. J Biol Chem, 2013 Apr 5. PMID 23430248, Free PMC Article
    5. Transcriptome analysis of a cDNA library from adult human epididymis. Li JY, et al. DNA Res, 2008 Jun 30. PMID 18390568, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Gene set enrichment analysis (GSEA) showed that SPINK13 expression was involved in complement, apical junction, epithelial-mesenchymal transition (EMT), glycolysis, hypoxia, and inflammation signaling pathways.
      Title: The Role of Serine Peptidase Inhibitor Kazal Type 13 (SPINK13) as a Clinicopathological and Prognostic Biomarker in Patients with Clear Cell Renal Cell Carcinoma.
    2. The results of the study indicated that SPINK13 could function as a promising therapeutic approach for patients with advanced hepatocellular carcinoma.
      Title: Novel urokinase-plasminogen activator inhibitor SPINK13 inhibits growth and metastasis of hepatocellular carcinoma in vivo.
    3. SPINK13 inhibited cell migration and epithelial to mesenchymal transition (EMT). SPINK13 was found to inhibit the expression of urokinase-type plasminogen activator (uPA), while recombinant uPA protein could reverse the inhibitory effect of SPINK13 on OC metastasis.
      Title: Downregulation of SPINK13 Promotes Metastasis by Regulating uPA in Ovarian Cancer Cells.
    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

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Clone Names

    • MGC149260

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables serine-type endopeptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of acrosome reaction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of peptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    serine protease inhibitor Kazal-type 13
    Names
    Hepatitis B Virus (HBV) DNA polymerase transactivated protein 1
    hepatitis B virus DNA polymerase transactivated human serine protease inhibitor
    hepatitis B virus DNA polymerase transactivated serine protease inhibitor
    serine peptidase inhibitor, Kazal type 13 (putative)
    serine protease inhibitor Kazal-type 5-like 3

    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_001040129.3 → NP_001035218.1  serine protease inhibitor Kazal-type 13 precursor

      See identical proteins and their annotated locations for NP_001035218.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the protein-coding transcript.
      Source sequence(s)
      AC011346, BC128164
      Consensus CDS
      CCDS43383.1
      UniProtKB/Swiss-Prot
      A1A4Y2, Q1W4C9
      UniProtKB/TrEMBL
      A0A9E8LN18, B5KFZ4
      Related
      ENSP00000381468.4, ENST00000398450.5
      Conserved Domains (1) summary
      cd00104
      Location:53 → 93
      KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...

    RNA

    1. NR_138538.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon and uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AC011346, BC128163
      Related
      ENST00000511106.5

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      148268794..148286255
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416800.1 → XP_047272756.1  serine protease inhibitor Kazal-type 13 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      148803308..148820769
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351763.1 → XP_054207738.1  serine protease inhibitor Kazal-type 13 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q1W4C9.1 GenPept UniProtKB/Swiss-Prot:Q1W4C9

    Gene LinkOut

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

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