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

    Gene ID: 11005, updated on 8-Aug-2016
    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 HPRD:05423; MIM:605010; Vega:OTTHUMG00000134305
    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]
    Orthologs
    Location:
    5q32
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    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
    anagen TAS
    Traceable Author Statement
    more info
    PubMed 
    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 
    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 exosome 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 
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    serine protease inhibitor Kazal-type 5
    Names
    lympho-epithelial Kazal-type-related inhibitor
    lymphoepithelial Kazal-type-related inhibitor

    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, OTTHUMP00000165952, ENST00000359874, OTTHUMT00000259217
      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, OTTHUMP00000165951, ENST00000398454, OTTHUMT00000259216
      Conserved Domains (2) summary
      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, OTTHUMP00000165950, ENST00000256084, OTTHUMT00000259215
      Conserved Domains (2) summary
      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 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      148063972..148137362
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011537551.2XP_011535853.1  

      Conserved Domains (2) summary
      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

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      146875990..146949062
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)