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2025-05-09 17:04:16, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_145652 1018 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens WAP four-disulfide core domain 5 (WFDC5), mRNA.
ACCESSION NM_145652
VERSION NM_145652.3 GI:336391118
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 1018)
AUTHORS Mukhopadhyay,S.S. and Rosen,J.M.
TITLE The C-terminal domain of the nuclear factor I-B2 isoform is
glycosylated and transactivates the WAP gene in the JEG-3 cells
JOURNAL Biochem. Biophys. Res. Commun. 358 (3), 770-776 (2007)
PUBMED 17511965
REMARK GeneRIF: C-terminal domain of the nuclear factor I-B2 isoform is
glycosylated and transactivates the WAP gene in tumor cells
REFERENCE 2 (bases 1 to 1018)
AUTHORS Lamesch,P., Li,N., Milstein,S., Fan,C., Hao,T., Szabo,G., Hu,Z.,
Venkatesan,K., Bethel,G., Martin,P., Rogers,J., Lawlor,S.,
McLaren,S., Dricot,A., Borick,H., Cusick,M.E., Vandenhaute,J.,
Dunham,I., Hill,D.E. and Vidal,M.
TITLE hORFeome v3.1: a resource of human open reading frames representing
over 10,000 human genes
JOURNAL Genomics 89 (3), 307-315 (2007)
PUBMED 17207965
REFERENCE 3 (bases 1 to 1018)
AUTHORS Nukumi,N., Seki,M., Iwamori,T., Yada,T., Naito,K. and Tojo,H.
TITLE Analysis of the promoter of mutated human whey acidic protein (WAP)
gene
JOURNAL J. Reprod. Dev. 52 (2), 315-320 (2006)
PUBMED 16462094
REMARK GeneRIF: analysis of promoter of mutated human whey acidic protein
(WAP) gene
REFERENCE 4 (bases 1 to 1018)
AUTHORS Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
TITLE The secreted protein discovery initiative (SPDI), a large-scale
effort to identify novel human secreted and transmembrane proteins:
a bioinformatics assessment
JOURNAL Genome Res. 13 (10), 2265-2270 (2003)
PUBMED 12975309
REMARK Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE 5 (bases 1 to 1018)
AUTHORS Clauss,A., Lilja,H. and Lundwall,A.
TITLE A locus on human chromosome 20 contains several genes expressing
protease inhibitor domains with homology to whey acidic protein
JOURNAL Biochem. J. 368 (PT 1), 233-242 (2002)
PUBMED 12206714
REFERENCE 6 (bases 1 to 1018)
AUTHORS Deloukas,P., Matthews,L.H., Ashurst,J., Burton,J., Gilbert,J.G.,
Jones,M., Stavrides,G., Almeida,J.P., Babbage,A.K., Bagguley,C.L.,
Bailey,J., Barlow,K.F., Bates,K.N., Beard,L.M., Beare,D.M.,
Beasley,O.P., Bird,C.P., Blakey,S.E., Bridgeman,A.M., Brown,A.J.,
Buck,D., Burrill,W., Butler,A.P., Carder,C., Carter,N.P.,
Chapman,J.C., Clamp,M., Clark,G., Clark,L.N., Clark,S.Y.,
Clee,C.M., Clegg,S., Cobley,V.E., Collier,R.E., Connor,R.,
Corby,N.R., Coulson,A., Coville,G.J., Deadman,R., Dhami,P.,
Dunn,M., Ellington,A.G., Frankland,J.A., Fraser,A., French,L.,
Garner,P., Grafham,D.V., Griffiths,C., Griffiths,M.N., Gwilliam,R.,
Hall,R.E., Hammond,S., Harley,J.L., Heath,P.D., Ho,S., Holden,J.L.,
Howden,P.J., Huckle,E., Hunt,A.R., Hunt,S.E., Jekosch,K.,
Johnson,C.M., Johnson,D., Kay,M.P., Kimberley,A.M., King,A.,
Knights,A., Laird,G.K., Lawlor,S., Lehvaslaiho,M.H., Leversha,M.,
Lloyd,C., Lloyd,D.M., Lovell,J.D., Marsh,V.L., Martin,S.L.,
McConnachie,L.J., McLay,K., McMurray,A.A., Milne,S., Mistry,D.,
Moore,M.J., Mullikin,J.C., Nickerson,T., Oliver,K., Parker,A.,
Patel,R., Pearce,T.A., Peck,A.I., Phillimore,B.J.,
Prathalingam,S.R., Plumb,R.W., Ramsay,H., Rice,C.M., Ross,M.T.,
Scott,C.E., Sehra,H.K., Shownkeen,R., Sims,S., Skuce,C.D.,
Smith,M.L., Soderlund,C., Steward,C.A., Sulston,J.E., Swann,M.,
Sycamore,N., Taylor,R., Tee,L., Thomas,D.W., Thorpe,A., Tracey,A.,
Tromans,A.C., Vaudin,M., Wall,M., Wallis,J.M., Whitehead,S.L.,
Whittaker,P., Willey,D.L., Williams,L., Williams,S.A., Wilming,L.,
Wray,P.W., Hubbard,T., Durbin,R.M., Bentley,D.R., Beck,S. and
Rogers,J.
TITLE The DNA sequence and comparative analysis of human chromosome 20
JOURNAL Nature 414 (6866), 865-871 (2001)
PUBMED 11780052
REFERENCE 7 (bases 1 to 1018)
AUTHORS Horikoshi,N., Cong,J., Kley,N. and Shenk,T.
TITLE Isolation of differentially expressed cDNAs from p53-dependent
apoptotic cells: activation of the human homologue of the
Drosophila peroxidasin gene
JOURNAL Biochem. Biophys. Res. Commun. 261 (3), 864-869 (1999)
PUBMED 10441517
REFERENCE 8 (bases 1 to 1018)
AUTHORS Ranganathan,S., Simpson,K.J., Shaw,D.C. and Nicholas,K.R.
TITLE The whey acidic protein family: a new signature motif and
three-dimensional structure by comparative modeling
JOURNAL J. Mol. Graph. Model. 17 (2), 106-113 (1999)
PUBMED 10680116
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AY358822.1, BC039173.1 and
Z93016.2.
On Jun 18, 2011 this sequence version replaced gi:23238241.
Summary: This gene encodes a member of the WAP-type four-disulfide
core (WFDC) domain family. Most WFDC proteins contain only one WFDC
domain, and this encoded protein contains two WFDC domains. 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. Most WFDC gene members are
localized to chromosome 20q12-q13 in two clusters: centromeric and
telomeric. This gene belongs to the centromeric cluster. [provided
by RefSeq, Jul 2008].
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
##Evidence-Data-START##
Transcript exon combination :: AY358822.1, BC039173.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025085 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-34 AY358822.1 1-34
35-1002 BC039173.1 1-968
1003-1018 Z93016.2 110236-110251 c
FEATURES Location/Qualifiers
source 1..1018
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="20"
/map="20q13.12"
gene 1..1018
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/note="WAP four-disulfide core domain 5"
/db_xref="GeneID:149708"
/db_xref="HGNC:20477"
/db_xref="MIM:605161"
exon 1..174
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/inference="alignment:Splign:1.39.8"
variation complement(11..14)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace=""
/replace="ctga"
/db_xref="dbSNP:375288891"
variation complement(13..16)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace=""
/replace="gact"
/db_xref="dbSNP:147846563"
variation complement(45)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:73910118"
misc_feature 72..74
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/note="upstream in-frame stop codon"
variation complement(77)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371339713"
variation complement(78)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200540832"
CDS 90..461
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/note="protease inhibitor WAP1; WAP four-disulfide core
domain protein 5; p53-responsive gene 5 protein; putative
protease inhibitor WAP1"
/codon_start=1
/product="WAP four-disulfide core domain protein 5
precursor"
/protein_id="NP_663627.1"
/db_xref="GI:21717822"
/db_xref="CCDS:CCDS33475.1"
/db_xref="GeneID:149708"
/db_xref="HGNC:20477"
/db_xref="MIM:605161"
/translation="
MRTQSLLLLGALLAVGSQLPAVFGRKKGEKSGGCPPDDGPCLLSVPDQCVEDSQCPLTRKCCYRACFRQCVPRVSVKLGSCPEDQLRCLSPMNHLCHKDSDCSGKKRCCHSACGRDCRDPARG
"
sig_peptide 90..161
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
mat_peptide 162..458
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/product="WAP four-disulfide core domain protein 5"
misc_feature 273..452
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/note="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...;
Region: WAP; cd00199"
/db_xref="CDD:29256"
misc_feature 321..341
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/note="inhibitory loop; inhibition site"
/db_xref="CDD:29256"
variation complement(92)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:140685506"
exon 175..315
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/inference="alignment:Splign:1.39.8"
variation complement(182)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:138962368"
variation complement(197)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:111660564"
variation complement(220)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:141103884"
variation complement(221)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:114264609"
variation complement(237)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374696524"
variation complement(291)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:142074298"
variation complement(292)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:370436377"
exon 316..456
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/inference="alignment:Splign:1.39.8"
variation complement(342)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="a"
/replace="c"
/db_xref="dbSNP:116574899"
variation complement(349)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:114645401"
variation complement(354)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:199500433"
variation complement(378)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:17422688"
variation complement(397)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:79417830"
variation complement(422)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:373684757"
variation complement(428)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145123781"
variation complement(429)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374180478"
variation complement(433)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:139507452"
variation complement(442)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:111992595"
exon 457..1018
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/inference="alignment:Splign:1.39.8"
variation complement(541)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="a"
/replace="c"
/db_xref="dbSNP:199710758"
variation complement(543)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:370593294"
variation complement(546)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:373859109"
variation complement(568)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:188147053"
variation complement(679)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:79707292"
variation complement(682)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:150516709"
variation complement(719)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:184894433"
variation complement(740)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:368455958"
variation complement(793)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:6094096"
variation complement(801)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:6031997"
variation complement(816)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:6094095"
variation complement(846)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:180895744"
variation complement(870)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:190510993"
variation complement(920)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:6094094"
variation complement(927)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:114781738"
variation complement(928)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:112924458"
variation complement(943)
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:6130753"
polyA_signal 985..990
/gene="WFDC5"
/gene_synonym="dJ211D12.5; PRG5; WAP1"
ORIGIN
ctttcctctcctgactaagtttctctggcttccctgaggctgcaggtgttaatctggggggccctgggccctgagccggcagcagaaatatgaggacccagagccttctcctcctgggggccctcctggctgtggggagtcagctgcctgctgtctttggcaggaagaagggagagaaatcggggggctgcccgccagatgatgggccctgcctcctatcggtgcctgaccagtgcgtggaagacagccagtgtcccttgaccaggaagtgctgctacagagcttgcttccgccagtgtgtccccagggtctctgtgaagctgggcagctgcccagaggaccaactgcgctgcctcagccccatgaaccacctgtgtcacaaggactcagactgctcgggcaaaaagcgatgctgccacagcgcctgcgggcgggattgccgggatcctgccagaggctaattctgatttaggatctgtggctctgcacctaagctggggaccaacggaaagagttcacgatgggaggcctggggccctgcccgctggacagcactatctctaccagcggtggttccagccttctgataatcactggcctgctgacacttccctgcaacccatccacccctggtttctcctcctgggagtcaaagtccatagcctgagctcggaggaaggcctctgtatcaccccagtactctgcaccactgccatacgagcttcccacccttcctaacgctttcacaccaatccgtacatgctgcttcctccaccaaaaatgcccaattcaggcagaccctgacctctccctcaggcagcccaaccatccagaatgaatattcttgcagagttttccaaacatcagtcattcacctctttcatgattttcaccatacctacaaaatagcaccatgataggttgcacgctgcctgtaccaccatttacttaatgttttctttaaatggctcacttttgtatataaataaattcatttcaaaagaaaattgatatcact
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:149708 -> Molecular function: GO:0004867 [serine-type endopeptidase inhibitor activity] evidence: IEA
GeneID:149708 -> Cellular component: GO:0005576 [extracellular region] evidence: IEA
by
@meso_cacase at
DBCLS
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