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

Gene ID: 404203, updated on 15-Apr-2019

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
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

Genomic context

See SPINK6 in Genome Data Viewer
Location:
5q32
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (148202794..148215137)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (147582357..147594700)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene serine peptidase inhibitor, Kazal type 5 Neighboring gene serine peptidase inhibitor, Kazal type 14 (putative) Neighboring gene CAGE-defined high expression enhancer downstream of SPINK6 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 16

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Formation of the cornified envelope, organism-specific biosystem (from REACTOME)
    Formation of the cornified envelope, organism-specific biosystemAs keratinocytes progress towards the upper epidermis, they undergo a unique process of cell death termed cornification (Eckhart et al. 2013). This involves the crosslinking of keratinocyte proteins ...
  • Keratinization, organism-specific biosystem (from REACTOME)
    Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • MGC21394

Gene Ontology Provided by GOA

Function Evidence Code Pubs
serine-type endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cornification TAS
Traceable Author Statement
more info
 
negative regulation of serine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular region TAS
Traceable Author Statement
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001195290.1NP_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)
    AY358716, BE122852, GQ504704
    Consensus CDS
    CCDS34268.1
    UniProtKB/Swiss-Prot
    Q6UWN8
    Related
    ENSP00000481309.1, ENST00000621437.4
    Conserved Domains (1) summary
    pfam00050
    Location:3680
    Kazal_1; Kazal-type serine protease inhibitor domain
  2. NM_205841.4NP_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
    Q6UWN8
    Related
    ENSP00000324870.2, ENST00000325630.3
    Conserved Domains (1) summary
    pfam00050
    Location:3680
    Kazal_1; Kazal-type serine protease inhibitor domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    148202794..148215137
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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