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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KRTAP19-6 Gene

protein-coding   GIFtS: 32
GCID: GC21M031913

Keratin Associated Protein 19-6

  Search for KRTAP19-6
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Keratin Associated Protein 19-61 2
KAP19.62 3
KRTAP19-6-V12
KRTAP19-6-V22
Keratin-Associated Protein 19-62

External Ids:    HGNC: 189411   Entrez Gene: 3379732   Ensembl: ENSG000001869257   UniProtKB: Q3LI703   

Export aliases for KRTAP19-6 gene to outside databases

Previous GC identifers: GC21U900023 GC21M030834 GC21M030835 GC21M017322


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for KRTAP19-6 Gene: 
KRTAP19-6 (keratin associated protein 19-6) is a protein-coding gene.

UniProtKB/Swiss-Prot: KR196_HUMAN, Q3LI70
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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000021.8  NC_018932.2  NT_011512.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KRTAP19-6 gene promoter:
         Oct-B1   TBP   COUP-TF1   oct-B2   COUP   HNF-4alpha2   HNF-4alpha1   FOXL1   COUP-TF   TFIID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRTAP19-6 promoter sequence
   Search SABiosciences Chromatin IP Primers for KRTAP19-6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRTAP19-6


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

KRTAP19-6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRTAP19-6 gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21M031913:  view genomic region     (about GC identifiers)

Start:
31,913,854 bp from pter      End:
31,914,183 bp from pter
Size:
330 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KR196_HUMAN, Q3LI70 (See protein sequence)
Recommended Name: Keratin-associated protein 19-6  
Size: 58 amino acids; 6267 Da
Subunit: Interacts with hair keratins (By similarity)
Sequence caution: Sequence=BAE46363.1; Type=Frameshift; Positions=59;
Secondary accessions: Q3LI71

Explore the universe of human proteins at neXtProt for KRTAP19-6: NX_Q3LI70

Explore proteomics data for KRTAP19-6 at MOPED 

KRTAP19-6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

KRTAP19-6 Protein Expression

REFSEQ proteins: NP_853643.1  
ENSEMBL proteins: 
 ENSP00000375107  

Human Recombinant Protein Products for KRTAP19-6: 
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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005882intermediate filament IEA--

KRTAP19-6 for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
KRTAP: Keratin associated proteins

1 InterPro protein domain:
 IPR021743 KRTAP

Graphical View of Domain Structure for InterPro Entry Q3LI70

ProtoNet protein and cluster: Q3LI70

UniProtKB/Swiss-Prot: KR196_HUMAN, Q3LI70
Similarity: Belongs to the KRTAP type 19 family


KRTAP19-6 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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: KR196_HUMAN, Q3LI70
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

Phenotypes:
     1 GenomeRNAi human phenotype for KRTAP19-6:

 Decreased Wnt reporter activit 

Animal Models:
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(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KRTAP19-6

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for KRTAP19-6 (KR196)

Search CenterWatch for drugs/clinical trials and news about KRTAP19-6 / KR196

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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About This Section

REFSEQ mRNAs for KRTAP19-6 gene: 
NM_181612.2  

Unigene Cluster for KRTAP19-6:

Keratin associated protein 19-6
Hs.553695
Unigene Representative Sequence: NM_181612
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000334046(uc002yok.1)
miRNA
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Additional mRNA sequence: 

AB096947.1 AB096948.1 BC101813.1 BC101815.1 

1 DOTS entry:

DT.100703691 

1 AceView cDNA sequence:

NM_181612 

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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

KRTAP19-6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CTCCAGAAGG
KRTAP19-6 Expression
About this image


See KRTAP19-6 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.553695
    SABiosciences Custom PCR Arrays for KRTAP19-6
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRTAP19-6

(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)
About This Section
  --

ENSEMBL Gene Tree for KRTAP19-6 (if available)
TreeFam Gene Tree for KRTAP19-6 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
  --

(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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/62 SNPs in KRTAP19-6 are shown (see all 62)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 21 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1167874761,2
C,F--31913383(+) TTGCAA/GTAAGT 1 -- int11Minor allele frequency- G:0.06WA 118
rs1884313761,2
--31913474(+) AACAGA/CTAAAA 1 -- int10--------
rs1808589871,2
--31913539(+) TTCAGA/GACTTA 1 -- int10--------
rs1865193081,2
--31913579(+) TGAATA/GTATGT 1 -- int10--------
rs2013377221,2
--31913610(+) GCAAA-/ACACTGT 1 -- int10--------
rs1488726241,2
--31913647(+) AAGAAG/TACAAA 1 -- int10--------
rs1909623451,2
--31913661(+) CTTGAC/TTGAAG 1 -- int10--------
rs28329411,2
C,F,O,H--31913666(+) TTGAAA/GTCTCA 1 -- int132Minor allele frequency- G:0.19NA NS EA WA CSA 2778
rs1836979241,2
--31913704(+) AATTGA/GTAAAG 1 -- int10--------
rs1426318991,2
--31913800(+) TAGGTG/TAAACC 1 -- int10--------

HapMap Linkage Disequilibrium report for KRTAP19-6 (31913854 - 31914183 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for KRTAP19-6:    About this table     
Variant IDTypeSubtypePubMed ID
nsv913677CNV Loss21882294

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
  --

(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)
About This Section

PubMed articles for KRTAP19-6 gene integrated from 9 sources:
(articles sorted by number of sources associating them with KRTAP19-6)
    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, 3 Rogers M.A....Schweizer J. (2002)
  2. 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. (2002)
  3. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)
  4. The DNA sequence of human chromosome 21. (PubMed id 10830953)2 Hattori M....Yaspo M.L. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 337973 HGNC: 18941 AceView: KRTAP19-6 Ensembl:ENSG00000186925 euGenes: HUgn337973
ECgene: KRTAP19-6 H-InvDB: KRTAP19-6

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for KRTAP19-6 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for KRTAP19-6 gene:
Search GeneIP for patents involving KRTAP19-6

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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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transforming growth factor, beta 1
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