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

Summary

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

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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SPINK6 inhibits human airway serine proteases and restricts influenza virus activation.
Title: SPINK6 inhibits human airway serine proteases and restricts influenza virus activation.
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.
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.
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.
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.
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.
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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables serine-type endopeptidase inhibitor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in negative regulation of peptidase 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)

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
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