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WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 [ Homo sapiens (human) ]

Gene ID: 117166, updated on 7-Dec-2018

Summary

Official Symbol
WFIKKN1provided by HGNC
Official Full Name
WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1provided by HGNC
Primary source
HGNC:HGNC:30912
See related
Ensembl:ENSG00000127578 MIM:608021
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
RJD2; WFIKKN; WFDC20A; C16orf12
Summary
This gene encodes a secreted multidomain protein consisting of a signal peptide, a WAP domain, a follistatin domain, an immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. These domains have been implicated frequently in inhibition of various types of proteases, suggesting that the encoded protein may be a multivalent protease inhibitor and may control the action of multiple types of serine proteases as well as metalloproteinases. [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See WFIKKN1 in Genome Data Viewer
Location:
16p13.3
Exon count:
2
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (631012..634116)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (681012..684116)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol glycan anchor biosynthesis class Q Neighboring gene RAB40C, member RAS oncogene family Neighboring gene uncharacterized LOC101929280 Neighboring gene tRNA-Gly (CCC) 2-2 Neighboring gene methyltransferase like 26

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126651, MGC126655

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metalloendopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
receptor antagonist activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
receptor antagonist activity IDA
Inferred from Direct Assay
more info
PubMed 
serine-type endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
transforming growth factor beta binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transforming growth factor beta binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
extracellular negative regulation of signal transduction IEA
Inferred from Electronic Annotation
more info
 
muscle fiber development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of DNA binding IEA
Inferred from Electronic Annotation
more info
 
negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein binding IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transforming growth factor beta receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transforming growth factor beta receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
roof of mouth development IEA
Inferred from Electronic Annotation
more info
 
skeletal system development 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, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 1
Names
GASP-2
WAP four-disulfide core domain 20A
WAP, FS, Ig, KU, and NTR-containing protein
WAP, follistatin, immunoglobulin, kunitz and NTR domain-containing protein
growth and differentiation factor-associated serum protein 2
hGASP-2

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_053284.3NP_444514.1  WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 1 precursor

    See identical proteins and their annotated locations for NP_444514.1

    Status: REVIEWED

    Source sequence(s)
    AF422194, AK075356, CN425794, Z84479
    Consensus CDS
    CCDS10414.1
    UniProtKB/Swiss-Prot
    Q96NZ8
    Related
    ENSP00000324763.2, ENST00000319070.2
    Conserved Domains (6) summary
    cd05765
    Location:200280
    Ig_3; Subgroup of the immunoglobulin (Ig) superfamily
    cd00104
    Location:120155
    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 ...
    cd03575
    Location:427537
    NTR_WFIKKN; NTR domain, WFIKKN subfamily; WFIKKN proteins contain a C-terminal NTR domain and are putative secreted proteins which may be multivalent protease inhibitors that act on serine proteases as well as metalloproteases. Human WFIKKN and a related protein ...
    pfam00014
    Location:358409
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
    cl00101
    Location:307351
    KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
    pfam00095
    Location:2976
    WAP; WAP-type (Whey Acidic Protein) 'four-disulfide core'

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_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    631012..634116
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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