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

Gene ID: 153218, updated on 5-Mar-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (148268794..148286255)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (148803308..148820769)
105.20220307 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
  • 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
  
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_2023_10

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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