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SPINK5 serine peptidase inhibitor, Kazal type 5 [ Homo sapiens (human) ]

Gene ID: 11005, updated on 9-Dec-2018

Summary

Official Symbol
SPINK5provided by HGNC
Official Full Name
serine peptidase inhibitor, Kazal type 5provided by HGNC
Primary source
HGNC:HGNC:15464
See related
Ensembl:ENSG00000133710 MIM:605010
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
NS; NETS; LEKTI; LETKI; VAKTI
Summary
This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
Expression
Biased expression in esophagus (RPKM 472.7) and skin (RPKM 127.7) See more
Orthologs

Genomic context

See SPINK5 in Genome Data Viewer
Location:
5q32
Exon count:
34
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (148063972..148137362)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (147443535..147516925)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene chromosome 5 open reading frame 46 Neighboring gene secretoglobin family 3A member 2 Neighboring gene eukaryotic translation elongation factor 1 gamma pseudogene 2 Neighboring gene serine peptidase inhibitor, Kazal type 14 (putative) Neighboring gene serine peptidase inhibitor, Kazal type 6

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

Markers

Homology

Clone Names

  • FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184

Gene Ontology Provided by GOA

Function Evidence Code Pubs
serine-type endopeptidase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cornification TAS
Traceable Author Statement
more info
 
epidermal cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
epithelial cell differentiation TAS
Traceable Author Statement
more info
PubMed 
extracellular matrix organization TAS
Traceable Author Statement
more info
PubMed 
hair cell differentiation TAS
Traceable Author Statement
more info
PubMed 
negative regulation of angiogenesis TAS
Traceable Author Statement
more info
PubMed 
negative regulation of antibacterial peptide production IEA
Inferred from Electronic Annotation
more info
 
negative regulation of immune response TAS
Traceable Author Statement
more info
PubMed 
negative regulation of serine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of T cell differentiation TAS
Traceable Author Statement
more info
PubMed 
regulation of cell adhesion IEA
Inferred from Electronic Annotation
more info
 
regulation of timing of anagen TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cell cortex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
epidermal lamellar body IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
serine protease inhibitor Kazal-type 5
Names
lympho-epithelial Kazal-type-related inhibitor
lymphoepithelial Kazal-type-related inhibitor

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.

Genomic

  1. NG_009633.1 RefSeqGene

    Range
    5001..78391
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_110

mRNA and Protein(s)

  1. NM_001127698.1NP_001121170.1  serine protease inhibitor Kazal-type 5 isoform a preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as SPINK5l) represents the longest transcript and encodes the longest isoform (a, also known as the LEKTIl or long isoform).
    Source sequence(s)
    AI341060, AK025197, AK307588, AK307648, BI256857, DQ149928, DR421881
    Consensus CDS
    CCDS47300.1
    UniProtKB/Swiss-Prot
    Q9NQ38
    Related
    ENSP00000352936.3, ENST00000359874.7
    Conserved Domains (3) summary
    smart00280
    Location:787827
    KAZAL; Kazal type serine protease inhibitors
    cd01327
    Location:10321076
    KAZAL_PSTI; Kazal-type pancreatic secretory trypsin inhibitors (PSTI) and related proteins, including the second domain of the ovomucoid turkey inhibitor and the C-terminal domain of the esophagus cancer-related gene-2 protein (ECRG-2), are members of the ...
    pfam07648
    Location:311348
    Kazal_2; Kazal-type serine protease inhibitor domain
  2. NM_001127699.1NP_001121171.1  serine protease inhibitor Kazal-type 5 isoform c preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3, also known as SPINK5sh) differs in the 3' UTR and lacks several exons in the 3' coding region, compared to variant 1. The resulting protein (isoform c, also known as the LEKTIsh or short isoform) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AK025197, AK307588, AK307648, DQ149929
    Consensus CDS
    CCDS47301.1
    UniProtKB/Swiss-Prot
    Q9NQ38
    Related
    ENSP00000381472.1, ENST00000398454.5
    Conserved Domains (3) summary
    smart00280
    Location:787827
    KAZAL; Kazal type serine protease inhibitors
    cd01327
    Location:107151
    KAZAL_PSTI; Kazal-type pancreatic secretory trypsin inhibitors (PSTI) and related proteins, including the second domain of the ovomucoid turkey inhibitor and the C-terminal domain of the esophagus cancer-related gene-2 protein (ECRG-2), are members of the ...
    pfam07648
    Location:311348
    Kazal_2; Kazal-type serine protease inhibitor domain
  3. NM_006846.3NP_006837.2  serine protease inhibitor Kazal-type 5 isoform b preproprotein

    See identical proteins and their annotated locations for NP_006837.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as SPINK5f-l) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform b, also known as the LEKTIf-l isoform), compared to isoform a.
    Source sequence(s)
    AI341060, AK025197, AK307588, AK307648, DQ149927, DR421881
    Consensus CDS
    CCDS43382.1
    UniProtKB/Swiss-Prot
    Q9NQ38
    Related
    ENSP00000256084.7, ENST00000256084.7
    Conserved Domains (3) summary
    smart00280
    Location:787827
    KAZAL; Kazal type serine protease inhibitors
    cd01327
    Location:10021046
    KAZAL_PSTI; Kazal-type pancreatic secretory trypsin inhibitors (PSTI) and related proteins, including the second domain of the ovomucoid turkey inhibitor and the C-terminal domain of the esophagus cancer-related gene-2 protein (ECRG-2), are members of the ...
    pfam07648
    Location:311348
    Kazal_2; 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
    148063972..148137362
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537551.2XP_011535853.1  serine protease inhibitor Kazal-type 5 isoform X1

    Conserved Domains (3) summary
    smart00280
    Location:759799
    KAZAL; Kazal type serine protease inhibitors
    cd01327
    Location:10041048
    KAZAL_PSTI; Kazal-type pancreatic secretory trypsin inhibitors (PSTI) and related proteins, including the second domain of the ovomucoid turkey inhibitor and the C-terminal domain of the esophagus cancer-related gene-2 protein (ECRG-2), are members of the ...
    pfam07648
    Location:283320
    Kazal_2; Kazal-type serine protease inhibitor domain
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