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

    Gene ID: 11005, updated on 9-Dec-2024

    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; AllianceGenome:HGNC:15464
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SPINK5 in Genome Data Viewer
    Location:
    5q32
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (148063980..148137382)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (148599687..148673088)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (147443543..147516945)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene chromosome 5 open reading frame 46 Neighboring gene eukaryotic translation elongation factor 1 gamma pseudogene 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:147325894-147326466 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 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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables serine-type endopeptidase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables serine-type endopeptidase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell cortex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in epidermal lamellar body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in extracellular region IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in 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)

    NEW Try the new Transcript table

    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_001127698.2NP_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)
      AC116334, AI341060, AK025197, AK307588, AK307648, BI256857, DQ149928, DR421881
      Consensus CDS
      CCDS47300.1
      UniProtKB/TrEMBL
      B4DWS3
      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 ...
      cl00097
      Location:310346
      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 ...
    2. NM_001127699.2NP_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)
      AC008722, AK025197, AK307588, AK307648, DQ149929
      Consensus CDS
      CCDS47301.1
      UniProtKB/TrEMBL
      B4DWS3
      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_006846.4NP_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)
      AC116334, AI341060, AK025197, AK307588, AK307648, DQ149927, DR421881
      Consensus CDS
      CCDS43382.1
      UniProtKB/Swiss-Prot
      A8MYE8, B7WPB7, D6REN5, O75770, Q3LX95, Q3LX96, Q3LX97, Q96PP2, Q96PP3, Q9NQ38
      UniProtKB/TrEMBL
      B4DWS3
      Related
      ENSP00000256084.7, ENST00000256084.8
      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 ...
      cl00097
      Location:310348
      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 ...

    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
      148063980..148137382
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416662.1XP_047272618.1  serine protease inhibitor Kazal-type 5 isoform X1

      UniProtKB/TrEMBL
      B4DWS3
    2. XM_011537551.3XP_011535853.1  serine protease inhibitor Kazal-type 5 isoform X2

      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
    3. XM_047416663.1XP_047272619.1  serine protease inhibitor Kazal-type 5 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      148599687..148673088
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351498.1XP_054207473.1  serine protease inhibitor Kazal-type 5 isoform X2