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KRTAP24-1 Gene

protein-coding   GIFtS: 32
GCID: GC21M031653

Keratin Associated Protein 24-1

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(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 24-11 2
KAP24.12 3
Keratin-Associated Protein 24-12

External Ids:    HGNC: 339021   Entrez Gene: 6438032   Ensembl: ENSG000001886947   UniProtKB: Q3LI833   

Export aliases for KRTAP24-1 gene to outside databases

Previous GC identifers: GC21M030578 GC21M017063


(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 KRTAP24-1 Gene:
KRTAP24-1 (keratin associated protein 24-1) is a protein-coding gene. GO annotations related to this gene include structural molecule activity.

UniProtKB/Swiss-Prot: KR241_HUMAN, Q3LI83
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 at NCBI GenBank:
NC_000021.8  NC_018932.2  NT_011512.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the KRTAP24-1 gene promoter:
         Nkx2-5   CUTL1   LyF-1   Evi-1   C/EBPalpha   
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRTAP24-1


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

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

KRTAP24-1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRTAP24-1 gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21M031653:  view genomic region     (about GC identifiers)

Start:
31,653,627 bp from pter      End:
31,655,276 bp from pter
Size:
1,650 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: KR241_HUMAN, Q3LI83 (See protein sequence)
Recommended Name: Keratin-associated protein 24-1  
Size: 254 amino acids; 27719 Da
Subunit: Interacts with hair keratins (By similarity)
Miscellaneous: Has a low cysteine content when compared to the majority of known KAP family members. Possesses
several C-terminal tyrosine-containing tandem decameric repeat structures
Caution: It is uncertain whether Met-1 or Met-6 is the initiator
Secondary accessions: Q1XDX0

Explore the universe of human proteins at neXtProt for KRTAP24-1: NX_Q3LI83

Explore proteomics data for KRTAP24-1 at MOPED


See KRTAP24-1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001078924.1  
ENSEMBL proteins: 
 ENSP00000339238  

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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 Q3LI83

ProtoNet protein and cluster: Q3LI83

UniProtKB/Swiss-Prot: KR241_HUMAN, Q3LI83
Similarity: Belongs to the PMG family


Find genes that share domains with KRTAP24-1           About GenesLikeMe


(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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: KR241_HUMAN, Q3LI83
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--
     
Find genes that share ontologies with KRTAP24-1           About GenesLikeMe


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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
cytosol2
nucleus2
extracellular1
peroxisome1

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

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

Find genes that share ontologies with KRTAP24-1           About GenesLikeMe


(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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(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 KRTAP24-1 (KR241)



(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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for KRTAP24-1 gene: 
NM_001085455.2  

Unigene Cluster for KRTAP24-1:

Keratin associated protein 24-1
Hs.580883
Unigene Representative Sequence: NM_001085455
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000340345(uc002ynv.3)
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Additional mRNA sequence: 

AB096935.1 AM238513.1 

1 DOTS entry:

DT.121132446 

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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KRTAP24-1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AAAATTATTT
KRTAP24-1 Expression
About this image

KRTAP24-1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

KRTAP24-1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.580883

UniProtKB/Swiss-Prot: KR241_HUMAN, Q3LI83
Tissue specificity: Specific expression in the middle/upper hair cuticle

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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 KRTAP24-1 gene from Selected species (see all 5)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Krtap24-11 , 5 keratin associated protein 24-11, 5 70.7(n)1
60.48(a)1
  16 (51.32 cM)5
2399321  NM_001163141.11  NP_001156613.11 
 886107095 


ENSEMBL Gene Tree for KRTAP24-1 (if available)
TreeFam Gene Tree for KRTAP24-1 (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 KRTAP24-1 (see all 99)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 21 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs58434351,2
C--31653191(+) TCTAC-/T/TT  
        
ttttt
1 -- ds50010--------
rs755174181,2
F--31653241(+) GGCTGC/TGGTGC 1 -- ds50011Minor allele frequency- T:0.02NA 120
rs1486278211,2
--31653348(+) CACCAC/TGCCCG 1 -- ds50010--------
rs1880079071,2
--31653557(+) CAATGC/TTATGT 1 -- ds50010--------
rs1158280261,2
F--31653620(+) GAAAGC/TCATTA 1 -- ds50011Minor allele frequency- T:0.01WA 118
rs1143065621,2
C,F--31653641(+) GAAATT/CTGTTT 1 -- ut311Minor allele frequency- C:0.07WA 118
rs1421237121,2
C--31653650(+) TTATTA/GACTAA 1 -- ut310--------
rs1906960971,2
--31653954(+) CAGTAA/GGAAAA 1 -- ut310--------
rs28327521,2
C,F,O,H--31654134(+) GGTAGG/CTGATA 1 -- ut3132Minor allele frequency- C:0.15NA NS EA WA 3332
rs1172735601,2
C,F--31654153(+) GTCAGA/TCAAGT 1 -- ut311Minor allele frequency- T:0.03NA 120

HapMap Linkage Disequilibrium report for KRTAP24-1 (31653627 - 31655276 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for KRTAP24-1:    About this table    
Variant IDTypeSubtypePubMed ID
nsv834076CNV Gain17160897

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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 KRTAP24-1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with KRTAP24-1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Characterization of human KAP24.1, a cuticular hair keratin- associated protein with unusual amino-acid composition and repeat structure. (PubMed id 17235325)1, 2 Rogers M.A.... Schweizer J. (J. Invest. Dermatol. 2007)
  2. Human hair keratin-associated proteins (KAPs). (PubMed id 16939781)1 Rogers M.A....Schweizer J. (Int. Rev. Cytol. 2006)
  3. (PubMed id )2 

(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: 643803 HGNC: 33902 Ensembl:ENSG00000188694 euGenes: HUgn643803 ECgene: KRTAP24-1
H-InvDB: KRTAP24-1

(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 KRTAP24-1 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 KRTAP24-1 gene:
Search GeneIP for patents involving KRTAP24-1

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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KRTAP24-1
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KRTAP24-1
 LSBio Antibodies in human, mouse, rat for KRTAP24-1
Customized transgenic rodents for:
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 Search Addgene for plasmids for KRTAP24-1
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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 , 21 Aug 2014 , 8 Sep 2014

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