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KRTAP11-1 Gene

protein-coding   GIFtS: 47
GCID: GC21M032252

Keratin Associated Protein 11-1

  See related diseases
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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Aliases
Keratin Associated Protein 11-11 2     HACL-12
High Sulfur Keratin-Associated Protein 11.12 3     Keratin-Associated Protein 11-12
KAP11.12 3     KRTAP11.13
HACL12 5     

External Ids:    HGNC: 189221   Entrez Gene: 3378802   Ensembl: ENSG000001825917   OMIM: 6000645   UniProtKB: Q8IUC13   

Export aliases for KRTAP11-1 gene to outside databases

Previous GC identifers: GC21U900012 GC21M031173 GC21M031174 GC21M017662


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for KRTAP11-1 Gene:
KRTAP11-1 (keratin associated protein 11-1) is a protein-coding gene. Diseases associated with KRTAP11-1 include skin papilloma, and hereditary mucosal leukokeratosis. GO annotations related to this gene include structural molecule activity.

UniProtKB/Swiss-Prot: KR111_HUMAN, Q8IUC1
Function: In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix,
consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and
resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair
keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins




(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_000021.9  NC_018932.2  NT_011512.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the KRTAP11-1 gene promoter:
         c-Fos   Nkx3-1   AP-1   HTF   Lmo2   Nkx3-1 v1   LCR-F1   Evi-1   PPAR-gamma1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRTAP11-1 promoter sequence
   Search Chromatin IP Primers for KRTAP11-1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRTAP11-1


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

Entrez Gene cytogenetic band: 21q22.1   Ensembl cytogenetic band:  21q22.11   HGNC cytogenetic band: 21q22.1

KRTAP11-1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRTAP11-1 gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21M032252:  view genomic region     (about GC identifiers)

Start:
32,252,963 bp from pter      End:
32,253,874 bp from pter
Size:
912 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: KR111_HUMAN, Q8IUC1 (See protein sequence)
Recommended Name: Keratin-associated protein 11-1  
Size: 163 amino acids; 17085 Da
Secondary accessions: A1L4I8

Explore the universe of human proteins at neXtProt for KRTAP11-1: NX_Q8IUC1

Explore proteomics data for KRTAP11-1 at MOPED


See KRTAP11-1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_787054.1  
ENSEMBL proteins: 
 ENSP00000330720  

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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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HGNC Gene Families:
KRTAP: Keratin associated proteins

2 InterPro protein domains:
 IPR007659 Keratin_matx
 IPR007951 KRTAP_PMG

Graphical View of Domain Structure for InterPro Entry Q8IUC1

ProtoNet protein and cluster: Q8IUC1

UniProtKB/Swiss-Prot: KR111_HUMAN, Q8IUC1
Similarity: Belongs to the PMG family


KRTAP11-1 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: KR111_HUMAN, Q8IUC1
Function: In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix,
consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and
resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair
keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005198structural molecule activity IEA--
     
KRTAP11-1 for ontologies           About GeneDecksing


Phenotypes:
     3 GenomeRNAi human phenotypes for KRTAP11-1:
 Increased gamma-H2AX phosphory  Metaphase cells  Synthetic lethal with Ras 

Animal Models:
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miRNA
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miRTarBase miRNAs that target KRTAP11-1:
hsa-mir-7-5p (MIRT025664)

Block miRNA regulation of human, mouse, rat KRTAP11-1 using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate KRTAP11-1 (see all 12):
hsa-miR-875-3p hsa-miR-539 hsa-miR-657 hsa-miR-15a hsa-miR-497 hsa-miR-106a* hsa-miR-4261 hsa-miR-424
SwitchGear 3'UTR luciferase reporter plasmidKRTAP11-1 3' UTR sequence
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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 COMPARTMENTS: 

CompartmentConfidence
cytoskeleton2
mitochondrion2
cytosol1
extracellular1
nucleus1
peroxisome1

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

GO IDQualified GO termEvidencePubMed IDs
GO:0045095keratin filament IEA--

KRTAP11-1 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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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KRTAP11-1
Interactions:

    Search GeneGlobe Interaction Network for KRTAP11-1

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for KRTAP11-1 (Q8IUC13 ENSP000003307204) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
ELF3P785453, ENSP000003526734I2D: score=1 STRING: ENSP00000352673
About this table

(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 Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for KRTAP11-1 (KR111)



(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 KRTAP11-1 gene: 
NM_175858.2  

Unigene Cluster for KRTAP11-1:

Keratin associated protein 11-1
Hs.407654
Unigene Representative Sequence: NM_175858
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000332378(uc002yov.3)
miRNA
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Selected qRT-PCR Assays for microRNAs that regulate KRTAP11-1 (see all 12):
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SwitchGear 3'UTR luciferase reporter plasmidKRTAP11-1 3' UTR sequence
Inhib. RNA
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  QuantiFast Probe-based Assays in human, mouse, rat KRTAP11-1

Additional mRNA sequence: 

AB096963.1 AJ457065.1 BC130555.1 BC130557.1 

1 DOTS entry:

DT.99927510 

2 AceView cDNA sequences:

AJ457065 NM_175858 

GeneLoc Exon Structure


(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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KRTAP11-1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TATTTCTCAA
KRTAP11-1 Expression
About this image


KRTAP11-1 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
 
 Germ Cells (Reproductive System)
         Primordial germ cell-like cells
 
 Gonad
         Primordial germ cell-like cells
KRTAP11-1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

KRTAP11-1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.407654

UniProtKB/Swiss-Prot: KR111_HUMAN, Q8IUC1
Tissue specificity: Expressed in the upper matrix and in the entire hair cortex

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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRTAP11-1

(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 KRTAP11-1 gene from Selected species (see all 6)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Krtap11-11 , 5 keratin associated protein 11-11, 5 82.82(n)1
82.21(a)1
  16 (51.42 cM)5
166931  NM_001113406.11  NP_001106877.11 
 895701765 


ENSEMBL Gene Tree for KRTAP11-1 (if available)
TreeFam Gene Tree for KRTAP11-1 (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 KRTAP11-1 (see all 81)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 21 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs2006042051,2
--32252471(+) AAGAA-/AAAG  
        
AAAGA
1 -- int10--------
rs759755861,2
C--32252565(+) TCCTTG/TGTTTG 1 -- int15Minor allele frequency- T:0.13NA WA EA 362
rs1918424631,2
--32252705(+) AGTAGA/GAGCTA 1 -- int10--------
rs1508336931,2
--32252734(+) ACATAA/GAGATA 1 -- int10--------
rs776675091,2
C,F--32252763(+) AACTGG/CAAGAG 1 -- int11Minor allele frequency- C:0.03EA 120
rs1840192771,2
--32252791(+) GAAAAA/GGGTTG 1 -- int10--------
rs785179601,2
C,F--32252871(+) TCACAC/TAGTAT 1 -- int11Minor allele frequency- T:0.07WA 118
rs1868357921,2
--32252932(+) TGAAAC/TGTTTA 1 -- int10--------
rs1174094511,2
C--32253101(+) GTGTGG/AATGGT 1 -- ut311Minor allele frequency- A:0.01NA 120
rs1913661031,2
--32253125(+) ACATCA/CAGAGG 1 -- ut310--------

HapMap Linkage Disequilibrium report for KRTAP11-1 (32252963 - 32253874 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for KRTAP11-1:    About this table    
Variant IDTypeSubtypePubMed ID
nsv518454CNV Loss19592680
nsv834077CNV Gain17160897
nsv834078CNV Gain17160897

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing KRTAP11-1
DNA2.0 Custom Variant and Variant Library Synthesis for KRTAP11-1

(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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OMIM gene information: 600064    OMIM disorders: --

10 diseases for KRTAP11-1:    
About MalaCards
skin papilloma    hereditary mucosal leukokeratosis    monilethrix    pachyonychia congenita
epidermolytic hyperkeratosis    keratoderma    epidermolysis bullosa simplex    papilloma
epidermolysis bullosa    atherosclerosis

4 diseases from the University of Copenhagen DISEASES database for KRTAP11-1:
Hereditary mucosal leukokeratosis     Nonepidermolytic palmoplantar keratoderma     Monilethrix     Pachyonychia congenita

KRTAP11-1 for disorders           About GeneDecksing

Genetic Association Database (GAD): KRTAP11-1

Export disorders for KRTAP11-1 gene to outside databases

(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 KRTAP11-1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with KRTAP11-1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Characterization of a first domain of human high glycine-tyrosine and high sulfur keratin-associated protein (KAP) genes on chromosome 21q22.1. (PubMed id 12359730)1, 2, 3 Rogers M.A....Schweizer J. (J. Biol. Chem. 2002)
  2. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M.... Yaspo M.-L. (Nature 2000)
  3. Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters. (PubMed id 20494980)1 Warnatz H.J....Yaspo M.L. (Nucleic Acids Res. 2010)
  4. Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study. (PubMed id 17903303)4 O'Donnell C.J....Demissie S. (BMC Med. Genet. 2007)
  5. Krtap16, characterization of a new hair keratin-associated protein (KAP) gene complex on mouse chromosome 16 and evidence for regulation by Hoxc13. (PubMed id 15385554)1 Pruett N.D....Awgulewitsch A. (J. Biol. Chem. 2004)
  6. 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)
  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)

(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: 337880 HGNC: 18922 AceView: KRTAP11-1 Ensembl:ENSG00000182591 euGenes: HUgn337880
ECgene: KRTAP11-1 H-InvDB: KRTAP11-1

(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 KRTAP11-1 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 KRTAP11-1 gene:
Search GeneIP for patents involving KRTAP11-1

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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