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

Gene ID: 90199, updated on 13-Feb-2019

Summary

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
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

Genomic context

See WFDC8 in Genome Data Viewer
Location:
20q13.12
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (45551152..45579326, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (44179791..44207989, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes 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 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

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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_130896.2NP_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
    Q8IUA0
    UniProtKB/TrEMBL
    A0A140VK68
    Related
    ENSP00000289953.2, ENST00000289953.2
    Conserved Domains (3) summary
    smart00131
    Location:93145
    KU; BPTI/Kunitz family of serine protease inhibitors
    pfam00095
    Location:4990
    WAP; WAP-type (Whey Acidic Protein) 'four-disulfide core'
    cl00156
    Location:149190
    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_181510.2NP_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
    Q8IUA0
    UniProtKB/TrEMBL
    A0A140VK68
    Related
    ENSP00000361735.3, ENST00000357199.8
    Conserved Domains (3) summary
    smart00131
    Location:93145
    KU; BPTI/Kunitz family of serine protease inhibitors
    pfam00095
    Location:4990
    WAP; WAP-type (Whey Acidic Protein) 'four-disulfide core'
    cl00156
    Location:149190
    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: 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_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    45551152..45579326 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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