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WFDC8 WAP four-disulfide core domain 8 [ Homo sapiens (human) ]

Gene ID: 90199, updated on 14-Nov-2024

Summary

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Official Symbol
WFDC8provided by HGNC
Official Full Name
WAP four-disulfide core domain 8provided by HGNC
Primary source
HGNC:HGNC:16163
See related
Ensembl:ENSG00000158901 AllianceGenome:HGNC:16163
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
WAP8; C20orf170; HEL-S-292; dJ461P17.1
Summary
This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains a Kunitz-inhibitor domain, in addition to three WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Two alternatively spliced transcript variants have been found for this gene, and they encode the same protein. [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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See WFDC8 in Genome Data Viewer
Location:
20q13.12
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (45551152..45579284, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (47287009..47315139, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (44179791..44207923, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987282 Neighboring gene EPPIN-WFDC6 readthrough Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 21 Neighboring gene epididymal peptidase inhibitor Neighboring gene RNA, 5S ribosomal pseudogene 485 Neighboring gene cyclin B1 interacting protein 1 pseudogene 2 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44206738-44207673 Neighboring gene WAP four-disulfide core domain 9 Neighboring gene WAP four-disulfide core domain 10A Neighboring gene ribosomal protein S2 pseudogene 7

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Differing evolutionary histories of WFDC8 (short-term balancing) in Europeans and SPINT4 (incomplete selective sweep) in Africans. Ferreira Z, et al. Mol Biol Evol, 2011 Oct. PMID 21536719
  2. Reproduction and immunity-driven natural selection in the human WFDC locus. Ferreira Z, et al. Mol Biol Evol, 2013 Apr. PMID 23292442, Free PMC Article
  3. A locus on human chromosome 20 contains several genes expressing protease inhibitor domains with homology to whey acidic protein. Clauss A, et al. Biochem J, 2002 Nov 15. PMID 12206714, Free PMC Article
  4. The evolution of a genetic locus encoding small serine proteinase inhibitors. Clauss A, et al. Biochem Biophys Res Commun, 2005 Jul 29. PMID 15950183, Free PMC Article
  5. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? Nathan JA, et al. EMBO J, 2013 Feb 20. PMID 23314748, Free PMC Article

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. We propose that the evolution of WFDC8 and SPINT4 has been shaped by complex selective scenarios due to the interdependence of variant fitness and ecological variables.
    Title: Differing evolutionary histories of WFDC8 (short-term balancing) in Europeans and SPINT4 (incomplete selective sweep) in Africans.
Submit: New GeneRIF Correction

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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Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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Preferred Names
WAP four-disulfide core domain protein 8
Names
WAP motif protein 1
epididymis secretory protein Li 292
epididymis secretory sperm binding protein
protease inhibitor WAP8
putative protease inhibitor WAP8
testicular secretory protein Li 68

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)

  1. NM_130896.3 → NP_570966.2  WAP four-disulfide core domain protein 8 precursor

    See identical proteins and their annotated locations for NP_570966.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (a) represents the shorter transcript.
    Source sequence(s)
    AL031663, AL121778
    Consensus CDS
    CCDS13361.1
    UniProtKB/Swiss-Prot
    E1P623, Q5TDV2, Q8IUA0, Q96A34
    UniProtKB/TrEMBL
    A0A0K0K1J0, A0A140VK68
    Related
    ENSP00000289953.2, ENST00000289953.3
    Conserved Domains (3) summary
    smart00131
    Location:93 → 145
    KU; BPTI/Kunitz family of serine protease inhibitors
    pfam00095
    Location:49 → 90
    WAP; WAP-type (Whey Acidic Protein) 'four-disulfide core'
    cl00156
    Location:149 → 190
    WAP; whey acidic protein-type four-disulfide core domains. Members of the family include whey acidic protein, elafin (elastase-specific inhibitor), caltrin-like protein (a calcium transport inhibitor) and other extracellular proteinase inhibitors. A group of ...

  2. NM_181510.3 → NP_852611.2  WAP four-disulfide core domain protein 8 precursor

    See identical proteins and their annotated locations for NP_852611.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (b) has an alternate 3' UTR and represents the longer transcript, as compared to variant a.
    Source sequence(s)
    AL031663, AL121778
    Consensus CDS
    CCDS13361.1
    UniProtKB/Swiss-Prot
    E1P623, Q5TDV2, Q8IUA0, Q96A34
    UniProtKB/TrEMBL
    A0A0K0K1J0, A0A140VK68
    Related
    ENSP00000361735.3, ENST00000357199.8
    Conserved Domains (3) summary
    smart00131
    Location:93 → 145
    KU; BPTI/Kunitz family of serine protease inhibitors
    pfam00095
    Location:49 → 90
    WAP; WAP-type (Whey Acidic Protein) 'four-disulfide core'
    cl00156
    Location:149 → 190
    WAP; whey acidic protein-type four-disulfide core domains. Members of the family include whey acidic protein, elafin (elastase-specific inhibitor), caltrin-like protein (a calcium transport inhibitor) and other extracellular proteinase inhibitors. A group of ...

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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    45551152..45579284 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028119.2 → XP_016883608.1  WAP four-disulfide core domain protein 8 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    47287009..47315139 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054324197.1 → XP_054180172.1  WAP four-disulfide core domain protein 8 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IUA0.2 GenPept UniProtKB/Swiss-Prot:Q8IUA0

Gene LinkOut

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