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

KRTAP10-4 Gene

protein-coding   GIFtS: 35
GCID: GC21P045993

Keratin Associated Protein 10-4

(Previous name: keratin associated protein 18-4)
(Previous symbol: KRTAP18-4)
  See related disease
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 10-41 2     Keratin-Associated Protein 18.42 3
KRTAP18-41 2 3     KAP10.42 3
Keratin Associated Protein 18-41 2     KAP18-42 3
High Sulfur Keratin-Associated Protein 10.42 3     KRTAP10.42 3
Keratin-Associated Protein 10.42 3     KRTAP18.42 3
Keratin-Associated Protein 18-42 3     Keratin-Associated Protein 10-42

External Ids:    HGNC: 205211   Entrez Gene: 3866722   Ensembl: ENSG000002154547   UniProtKB: P603723   

Export aliases for KRTAP10-4 gene to outside databases

Previous GC identifers: GC21P044818 GC21P031367


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

Entrez Gene summary for KRTAP10-4 Gene:
This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of
keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to
have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene
families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high
tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of
intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. (provided by RefSeq, Jul
2008)

GeneCards Summary for KRTAP10-4 Gene: 
KRTAP10-4 (keratin associated protein 10-4) is a protein-coding gene. Diseases associated with KRTAP10-4 include fraser syndrome. An important paralog of this gene is KRTAP10-6.

UniProtKB/Swiss-Prot: KR104_HUMAN, P60372
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_011515.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KRTAP10-4 gene promoter:
         HEN1   Lmo2   Olf-1   PPAR-gamma2   AP-4   HNF-4alpha1   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRTAP10-4 promoter sequence
   Search SABiosciences Chromatin IP Primers for KRTAP10-4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRTAP10-4


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

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3

KRTAP10-4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRTAP10-4 gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21P045993:  view genomic region     (about GC identifiers)

Start:
45,993,606 bp from pter      End:
45,994,987 bp from pter
Size:
1,382 bases      Orientation:
plus 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: KR104_HUMAN, P60372 (See protein sequence)
Recommended Name: Keratin-associated protein 10-4  
Size: 401 amino acids; 40429 Da
Subunit: Interacts with hair keratins
Secondary accessions: Q08AS0

Explore the universe of human proteins at neXtProt for KRTAP10-4: NX_P60372

Explore proteomics data for KRTAP10-4 at MOPED 

KRTAP10-4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

KRTAP10-4 Protein Expression

REFSEQ proteins: NP_941960.1  
ENSEMBL proteins: 
 ENSP00000383225  

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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:0045095keratin filament IEA--

KRTAP10-4 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:
 IPR002494 Keratin-assoc

Graphical View of Domain Structure for InterPro Entry P60372

ProtoNet protein and cluster: P60372

UniProtKB/Swiss-Prot: KR104_HUMAN, P60372
Similarity: Belongs to the KRTAP type 10 family


KRTAP10-4 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: KR104_HUMAN, P60372
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

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 KRTAP10-4

(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
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Browse Tocris compounds for KRTAP10-4 (KR104)

Search CenterWatch for drugs/clinical trials and news about KRTAP10-4 / KR104

(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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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for KRTAP10-4 gene: 
NM_198687.1  

Unigene Cluster for KRTAP10-4:

Keratin associated protein 10-4
Hs.567901
Unigene Representative Sequence: AB076351
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000400374(uc002zfk.1)
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Additional mRNA sequence: 

AB076351.1 AJ566382.1 BC125048.1 BC125049.1 

1 DOTS entry:

DT.75192977 

4 AceView cDNA sequences:

AB076351 NM_198687 AJ566382 AI334029 

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

KRTAP10-4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
KRTAP10-4 Expression
About this image


See KRTAP10-4 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.567901

UniProtKB/Swiss-Prot: KR104_HUMAN, P60372
Tissue specificity: Restricted to hair root, not detected in any other tissues

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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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for KRTAP10-4 gene from 2/7 species (see all 7)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Krtap4-65 keratin associated protein 4-6   --   11 (63.01 cM) 99665043 
fruit fly
(Drosophila melanogaster)
Insecta Pif26
CG341676
--
37(a)
27(a)
1 ↔ many
possible ortholog
3R(2374758-2375705)
2L(16002981-16003641)


ENSEMBL Gene Tree for KRTAP10-4 (if available)
TreeFam Gene Tree for KRTAP10-4 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for KRTAP10-4 gene
KRTAP10-62  KRTAP10-22  KRTAP10-112  KRTAP10-52  KRTAP10-92  KRTAP10-72  KRTAP10-102  KRTAP16-12  
KRTAP10-12  KRTAP10-82  KRTAP10-32  KRTAP10-122  KRTAP29-12  
10 SIMAP similar genes for KRTAP10-4 using alignment to 1 protein entry:     KR104_HUMAN:
KRTAP10-7    KRTAP10-6    KRTAP10-5    KRTAP10-8    KRTAP10-12    KRTAP10-3
KRTAP10-10    KRTAP10-1    KRTAP10-11    KRTAP10-9

KRTAP10-4 for paralogs           About GeneDecksing



(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

3 SNPs in KRTAP10-4 are shown    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 21 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0621124
----see VAR_0621122 G C mis40--------
VAR_0176944
----see VAR_0176942 R C mis40--------
VAR_0176954
----see VAR_0176952 I V mis40--------

HapMap Linkage Disequilibrium report for KRTAP10-4 (45993606 - 45994987 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10/12 variations for KRTAP10-4 (see all 12):    About this table     
Variant IDTypeSubtypePubMed ID
esv2660233CNV Deletion23128226
esv2723674CNV Deletion23290073
esv2723638CNV Deletion23290073
esv2751931CNV Loss17911159
nsv913952CNV Loss21882294
nsv913943CNV Loss21882294
nsv913951CNV Loss21882294
esv33817CNV Loss17666407
nsv913948CNV Loss21882294
nsv913946CNV Gain21882294

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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
2 diseases for KRTAP10-4:    About MalaCards
fraser syndrome    


KRTAP10-4 for disorders           About GeneDecksing

Genetic Association Database (GAD): KRTAP10-4

Export disorders for KRTAP10-4 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)
About This Section

PubMed articles for KRTAP10-4 gene integrated from 9 sources:
(articles sorted by number of sources associating them with KRTAP10-4)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  2. A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3. (PubMed id 15028290)1, 2 Shibuya K....Shimizu N. (2004)
  3. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M....Yaspo M.L. (2000)
  4. Hair keratin associated proteins: characterization of a second high sulfur KAP gene domain on human chromosome 21. (PubMed id 14962103)1 Rogers M.A....Schweizer J. (2004)
  5. 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 Rogers M.A....Schweizer J. (2002)
  6. 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)

(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: 386672 HGNC: 20521 AceView: KRTAP10-4 Ensembl:ENSG00000215454 euGenes: HUgn386672
ECgene: KRTAP10-4 H-InvDB: KRTAP10-4

(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 KRTAP10-4 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 KRTAP10-4 gene:
Search GeneIP for patents involving KRTAP10-4

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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