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    SPINK6 serine peptidase inhibitor Kazal type 6 [ Homo sapiens (human) ]

    Gene ID: 404203, updated on 14-Nov-2024

    Summary

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    Official Symbol
    SPINK6provided by HGNC
    Official Full Name
    serine peptidase inhibitor Kazal type 6provided by HGNC
    Primary source
    HGNC:HGNC:29486
    See related
    Ensembl:ENSG00000178172 MIM:615868; AllianceGenome:HGNC:29486
    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
    BUSI2; UNQ844
    Summary
    The protein encoded by this gene is a Kazal-type serine protease inhibitor that acts on kallikrein-related peptidases in the skin. Two transcript variants the same protein have been found for this gene. [provided by RefSeq, Aug 2010]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See SPINK6 in Genome Data Viewer
    Location:
    5q32
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (148202778..148215137)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (148737170..148749644)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (147582341..147594700)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene serine peptidase inhibitor Kazal type 5 Neighboring gene uncharacterized LOC124901185 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81997 Neighboring gene Sharpr-MPRA regulatory region 6578 Neighboring gene serine peptidase inhibitor Kazal type 14 (putative) Neighboring gene CAGE-defined high expression enhancer downstream of SPINK6 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:147609822-147611021 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 16 Neighboring gene MARCO like

    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. SPINK6 inhibits human airway serine proteases and restricts influenza virus activation. Wang D, et al. EMBO Mol Med, 2022 Jan 11. PMID 34826211, Free PMC Article
    2. Serine protease inhibitor kazal-type 6 inhibits tumorigenesis of human hepatocellular carcinoma cells via its extracellular action. Ge K, et al. Oncotarget, 2017 Jan 24. PMID 27999203, Free PMC Article
    3. The solution structure of the kallikrein-related peptidases inhibitor SPINK6. Jung S, et al. Biochem Biophys Res Commun, 2016 Feb 26. PMID 26828269, Free PMC Article
    4. Cross-linking of SPINK6 by transglutaminases protects from epidermal proteases. Fischer J, et al. J Invest Dermatol, 2013 May. PMID 23303447
    5. Isolation of SPINK6 in human skin: selective inhibitor of kallikrein-related peptidases. Meyer-Hoffert U, et al. J Biol Chem, 2010 Oct 15. PMID 20667819, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SPINK6 inhibits human airway serine proteases and restricts influenza virus activation.
      Title: SPINK6 inhibits human airway serine proteases and restricts influenza virus activation.
    2. Single-cell RNA sequencing of human nail unit defines RSPO4 onychofibroblasts and SPINK6 nail epithelium.
      Title: Single-cell RNA sequencing of human nail unit defines RSPO4 onychofibroblasts and SPINK6 nail epithelium.
    3. Study showed that the expression of SPINK6 is specifically suppressed in liver tumor tissues. The suppression could be even detected in the early stage tumors. As SPINK6 is a secretory protein, the extracellular protein level may be decreased because of tumor development. These results support that SPINK6 is an important tumor suppressor in liver.
      Title: Serine protease inhibitor kazal-type 6 inhibits tumorigenesis of human hepatocellular carcinoma cells via its extracellular action.
    4. our results identified a novel EGFR-activating mechanism in which SPINK6 has a critical role in promoting nasopharyngeal carcinoma metastasis
      Title: SPINK6 Promotes Metastasis of Nasopharyngeal Carcinoma via Binding and Activation of Epithelial Growth Factor Receptor.
    5. a significant fraction of SPINK6-sensitive proteases in healthy saliva and confirmed the ability of gingipains to inactivate SPINK6 under ex vivo conditions
      Title: Gingipains of Porphyromonas gingivalis Affect the Stability and Function of Serine Protease Inhibitor of Kazal-type 6 (SPINK6), a Tissue Inhibitor of Human Kallikreins.
    6. KLKs. Thereby, beside the conserved binding mode, we identified an alternate binding mode which has so far not been observed for SPINK inhibitors.
      Title: The solution structure of the kallikrein-related peptidases inhibitor SPINK6.
    7. Our study indicates that Spink6 is a potent inhibitor of kallikrein related peptidases and involved in skin barrier function.
      Title: Characterization of Spink6 in mouse skin: the conserved inhibitor of kallikrein-related peptidases is reduced by barrier injury.
    8. Cross-linked SPINK6 might protect specific substrates such as fibronectin from kallikrein-related peptidases cleavage and contribute to the regulation of proteases in the epidermis.
      Title: Cross-linking of SPINK6 by transglutaminases protects from epidermal proteases.
    9. Serine protease of Kazal-type (SPINK6) expressed in normal human skin is a potent natural inhibitor of Kallikrein-related peptidases, KLK12 and KLK13.
      Title: Inhibition of kallikrein-related peptidases by the serine protease inhibitor of Kazal-type 6.
    10. Data suggest that SPINK6 plays a role in modulating the activity of kallikreins in human skin.
      Title: Isolation of SPINK6 in human skin: selective inhibitor of kallikrein-related peptidases.
    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • MGC21394

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables serine-type endopeptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    serine protease inhibitor Kazal-type 6
    Names
    acrosin inhibitor
    kallikrein inhibitor
    protease inhibitor H

    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_001195290.2 → NP_001182219.1  serine protease inhibitor Kazal-type 6 precursor

      See identical proteins and their annotated locations for NP_001182219.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AC011346, AY358716, BE122852, GQ504704
      Consensus CDS
      CCDS34268.1
      UniProtKB/Swiss-Prot
      E0X656, Q6UWN8, Q8N5P0
      Related
      ENSP00000481309.1, ENST00000621437.4
      Conserved Domains (1) summary
      pfam00050
      Location:36 → 80
      Kazal_1; Kazal-type serine protease inhibitor domain

    2. NM_205841.4 → NP_995313.2  serine protease inhibitor Kazal-type 6 precursor

      See identical proteins and their annotated locations for NP_995313.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AY358716, GQ504704
      Consensus CDS
      CCDS34268.1
      UniProtKB/Swiss-Prot
      E0X656, Q6UWN8, Q8N5P0
      Related
      ENSP00000324870.2, ENST00000325630.3
      Conserved Domains (1) summary
      pfam00050
      Location:36 → 80
      Kazal_1; Kazal-type serine protease inhibitor domain

    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
      148202778..148215137
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      148737170..148749644
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UWN8.1 GenPept UniProtKB/Swiss-Prot:Q6UWN8

    Gene LinkOut

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

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