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KRTDAP Gene

protein-coding   GIFtS: 40
GCID: GC19M035978

Keratinocyte Differentiation-Associated Protein

  Search for KRTDAP
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Keratinocyte Differentiation-Associated Protein1 2
KDAP2 3
KIPV4672
UNQ4672

External Ids:    HGNC: 163131   Entrez Gene: 3885332   Ensembl: ENSG000001885087   UniProtKB: P609853   
ORGUL members:         

Export aliases for KRTDAP gene to outside databases

Previous GC identifers: GC19U990285 GC19M040654 GC19M040671 GC19M032483


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KRTDAP Gene:
This gene encodes a protein which may function in the regulation of keratinocyte differentiation and maintenance
of stratified epithelia. Multiple transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, Oct 2011)

GeneCards Summary for KRTDAP Gene:
KRTDAP (keratinocyte differentiation-associated protein) is a protein-coding gene.

UniProtKB/Swiss-Prot: KTDAP_HUMAN, P60985
Function: May act as a soluble regulator of keratinocyte differentiation. May play an important role in embryonic
skin morphogenesis

Gene Wiki entry for KRTDAP Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the KRTDAP gene promoter:
         SRF   C/EBPbeta   SRF (504 AA)   POU3F1   Brachyury   Olf-1   MZF-1   PPAR-gamma1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRTDAP promoter sequence
   Search Chromatin IP Primers for KRTDAP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRTDAP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.12   Ensembl cytogenetic band:  19q13.12   HGNC cytogenetic band: 19q13.12

KRTDAP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRTDAP gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M035978:  view genomic region     (about GC identifiers)

Start:
35,978,226 bp from pter      End:
35,986,460 bp from pter
Size:
8,235 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KTDAP_HUMAN, P60985 (See protein sequence)
Recommended Name: Keratinocyte differentiation-associated protein precursor  
Size: 99 amino acids; 11050 Da
Secondary accessions: A1L4D7
Alternative splicing: 2 isoforms:  P60985-1   P60985-2   

Explore the universe of human proteins at neXtProt for KRTDAP: NX_P60985

Explore proteomics data for KRTDAP at MOPED


See KRTDAP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001231776.1  NP_997275.1  

ENSEMBL proteins: 
 ENSP00000470713   ENSP00000339251  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR028196 KRTDAP

Graphical View of Domain Structure for InterPro Entry P60985

ProtoNet protein and cluster: P60985


KRTDAP for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: KTDAP_HUMAN, P60985
Function: May act as a soluble regulator of keratinocyte differentiation. May play an important role in embryonic
skin morphogenesis
Induction: Up-regulated in situ in psoriatic skin (at protein level)

Phenotypes:
     1 GenomeRNAi human phenotype for KRTDAP:

 Increased gamma-H2AX phosphory 

Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
KTDAP_HUMAN, P60985: Secreted
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular5
endoplasmic reticulum1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region IEA--

KRTDAP for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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Interactions:

    Search GeneGlobe Interaction Network for KRTDAP

Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0030154cell differentiation IEA--

KRTDAP for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Tocris compounds for KRTDAP (KTDAP)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for KRTDAP gene (2 alternative transcripts): 
NM_001244847.1  NM_207392.2  

Unigene Cluster for KRTDAP:

Keratinocyte differentiation-associated protein
Hs.112457  [show with all ESTs]
Unigene Representative Sequence: AJ293408
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000484218 ENST00000479340 ENST00000338897(uc002nzh.3 uc021uso.1)

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Additional mRNA sequence: 

AJ293408.1 AY359007.1 BC130501.1 

4 DOTS entries:

DT.442838  DT.70103174  DT.95211912  DT.121430402 

Selected AceView cDNA sequences (see all 30):

AA398638 AA778414 AA776980 W69108 AI140605 W60320 BE466728 BX112106 
AA584333 W69233 NM_207392 BG150312 AA586846 AY359007 AI217565 AA595989 
BX476814 AA582988 AA722694 AI217587 W52030 AA297512 W60268 AA393296 

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for KRTDAP    About this scheme

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6
SP1:                                    
SP2:              -                     


ECgene alternative splicing isoforms for KRTDAP

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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KRTDAP expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ACCTCCACTG
KRTDAP Expression
About this image


KRTDAP expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Testis (Reproductive System)
         Sertoli cells Seminiferous Tubules
 
 Placenta (Extraembryonic Tissues)
KRTDAP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

KRTDAP Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.112457

UniProtKB/Swiss-Prot: KTDAP_HUMAN, P60985
Tissue specificity: Highly expressed in skin and detected at lower levels in thymus. In skin, found exclusively in
lamellar granules of granular keratinocytes and in the intracellular space of the stratum corneum. Also highly
expressed in oral mucosa, tongue, esophagus, and stomach, and at much lower levels in bladder and uterus. Not
detected in gastrointestinal mucosa

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In Situ
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of human and mouse.

Orthologs for KRTDAP gene from Selected species (see all 6)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Krtdap1 , 5 keratinocyte differentiation associated protein1, 5 69.7(n)1
56.57(a)1
  7 (19.24 cM)5
646611  NM_001033131.31  NP_001028303.11 
 307879055 


ENSEMBL Gene Tree for KRTDAP (if available)
TreeFam Gene Tree for KRTDAP (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for KRTDAP (see all 134)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs749171671,2
C,F--35977733(+) TCCCCG/AGCATT 2 -- ds50011Minor allele frequency- A:0.13WA 118
rs32153821,2
C--35980962(+) CACTC-/TTGAGA 2 -- int12Minor allele frequency- T:0.17NA CSA 6
rs558140371,2
C--35981732(+) TTTTTT/-GACAG 2 -- us2k11Minor allele frequency- -:0.50CSA 2
rs1148771431,2
C,F--36136829(+) TCTATC/TGTTGC 2 -- ds50011Minor allele frequency- T:0.07WA 118
rs126102551,2
A,H--36136831(+) TATCGT/ATGCTT 2 -- ds50014Minor allele frequency- A:0.00NS EA 420
rs1834057721,2
--36137160(+) CCCAGC/TAGGAG 2 -- ds50010--------
rs79761,2
C,F,O,H--36137262(-) CTAGCG/ATGAGC 2 -- ut31 ese323Minor allele frequency- A:0.16MN NA NS EA WA EU 3951
rs1892526731,2
--36137289(+) AGGTCA/TTGGTC 2 -- ut310--------
rs176382161,2
C,F,H--36137421(+) GGTGTG/AAGTTC 2 -- int119Minor allele frequency- A:0.14NA NS EA WA 2286
rs1930646251,2
--36137425(+) TGAGTA/TCCCGT 2 -- int10--------

HapMap Linkage Disequilibrium report for KRTDAP (35978226 - 35986460 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for KRTDAP:    About this table    
Variant IDTypeSubtypePubMed ID
nsv833811CNV Gain17160897

Site Specific Mutation Identification with PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for KRTDAP gene integrated from 10 sources:
(articles sorted by number of sources associating them with KRTDAP)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Characterization of Kdap, a protein secreted by keratinocytes. (PubMed id 15140226)1, 2 Tsuchida S.... Ariizumi K. (J. Invest. Dermatol. 2004)
  2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
  3. Kdap, a novel gene associated with the stratification of the epithelium. (PubMed id 11054531)1, 3 Oomizu S....Yoshizato K. (Gene 2000)
  4. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (Nucleic Acids Res. 2006)
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  6. From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (Genome Res. 2004)
  7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  8. DNA cloning using in vitro site-specific recombination. (PubMed id 11076863)1 Hartley J.L....Brasch M.A. (Genome Res. 2000)
  9. Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. (PubMed id 7566098)1 Adams M.D.... White O. (Nature 1995)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 388533 HGNC: 16313 AceView: UNQ467 Ensembl:ENSG00000188508 euGenes: HUgn388533
ECgene: KRTDAP H-InvDB: KRTDAP

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for KRTDAP Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for KRTDAP gene:
Search GeneIP for patents involving KRTDAP

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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