KRTAP10-5 Gene (Protein Coding)

Keratin Associated Protein 10-5

GC21M048002
GIFtS:
29
This is an intronless gene located in a cluster of related genes on the q arm of chromosome 21. The proteins encoded by these genes form disulfide bonds with cysteine residues in hair keratins, thereby contributing to the structure and stability of hair fibers. [provided by RefSeq, Apr 2014] See more...

Aliases for KRTAP10-5 Gene

Aliases for KRTAP10-5 Gene

  • Keratin Associated Protein 10-5 2 3 5
  • KAP10.5 2 3 4
  • High Sulfur Keratin-Associated Protein 10.5 3 4
  • Keratin-Associated Protein 10-5 3 4
  • Keratin-Associated Protein 18.5 3 4
  • KRTAP10.5 3 4
  • KRTAP18-5 3 4
  • KRTAP18.5 3 4
  • KAP18-5 3 4
  • KAP18.5 2 3
  • Keratin-Associated Protein 10.5 4
  • Keratin-Associated Protein 18-5 4
  • KRTAP18.1 3
  • KRTAP10-5 5

External Ids for KRTAP10-5 Gene

Previous HGNC Symbols for KRTAP10-5 Gene

  • KRTAP18-5

Previous GeneCards Identifiers for KRTAP10-5 Gene

  • GC21U900092
  • GC21M044823
  • GC21M045999
  • GC21M031373
  • GC21M044580
  • GC21M044696
  • GC21M045830
  • GC21M046291
  • GC21M046619
  • GC21M047152
  • GC21M044832
  • GC21M044967
  • GC21M045090
  • GC21M045231
  • GC21M045372
  • GC21M045497
  • GC21M045648
  • GC21M045743
  • GC21M047416
  • GC21M047689

Summaries for KRTAP10-5 Gene

Entrez Gene Summary for KRTAP10-5 Gene

  • This is an intronless gene located in a cluster of related genes on the q arm of chromosome 21. The proteins encoded by these genes form disulfide bonds with cysteine residues in hair keratins, thereby contributing to the structure and stability of hair fibers. [provided by RefSeq, Apr 2014]

GeneCards Summary for KRTAP10-5 Gene

KRTAP10-5 (Keratin Associated Protein 10-5) is a Protein Coding gene. Diseases associated with KRTAP10-5 include Three M Syndrome 1. Among its related pathways are Developmental Biology and Keratinization. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is KRTAP10-1.

UniProtKB/Swiss-Prot Summary for KRTAP10-5 Gene

  • 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.

Additional gene information for KRTAP10-5 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRTAP10-5 Gene

Genomics for KRTAP10-5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for KRTAP10-5 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH21J044876 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 1.4 -300.6 -300596 7.2 MYC IKZF1 SSRP1 ZNF592 CEBPA ATF3 BRCA1 YY1 CEBPB CTCF lnc-FAM207A-4 UBE2G2 PTTG1IP POFUT2 SUMO3 LINC01424 KRTAP10-6 KRTAP12-2 KRTAP10-11 KRTAP12-1
GH21J044583 Enhancer 0.6 Ensembl 0.7 -2.8 -2797 0.4 REST FEZF1 ZNF217 GLIS1 SP7 ZSCAN4 ATF1 MNT ZNF512 WT1 KRTAP10-2 KRTAP10-1 KRTAP10-9 KRTAP10-10 KRTAP10-11 KRTAP12-3 TSPEAR-AS1 TSPEAR-AS2 IMMTP1 KRTAP12-1
GH21J044574 Enhancer 0.8 ENCODE 0.4 +5.5 5545 0.2 KLF9 KDM6A RXRA SMAD4 ZNF511 SAP130 RARA GABPB1 TEAD3 THRB KRTAP10-4 lnc-KRTAP10-7-1 KRTAP10-5 TSPEAR
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRTAP10-5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRTAP10-5

Top Transcription factor binding sites by QIAGEN in the KRTAP10-5 gene promoter:
  • AP-4
  • CUTL1
  • E47
  • Lmo2
  • Olf-1

Genomic Locations for KRTAP10-5 Gene

Latest Assembly
chr21:44,579,455-44,580,604
(GRCh38/hg38)
Size:
1,150 bases
Orientation:
Minus strand

Previous Assembly
chr21:45,999,332-46,000,481
(GRCh37/hg19 by Entrez Gene)
Size:
1,150 bases
Orientation:
Minus strand

chr21:45,999,332-46,000,481
(GRCh37/hg19 by Ensembl)
Size:
1,150 bases
Orientation:
Minus strand

Genomic View for KRTAP10-5 Gene

Genes around KRTAP10-5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP10-5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP10-5 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KRTAP10-5 Gene

Proteins for KRTAP10-5 Gene

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  • Protein details for KRTAP10-5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P60370-KR105_HUMAN
    Recommended name:
    Keratin-associated protein 10-5
    Protein Accession:
    P60370
    Secondary Accessions:
    • Q0VAR7
    • Q0VAR8
    • Q70LJ3

    Protein attributes for KRTAP10-5 Gene

    Size:
    271 amino acids
    Molecular mass:
    27626 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP10-5 Gene

Protein Expression for KRTAP10-5 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for KRTAP10-5 Gene

No Post-translational modifications

Other Protein References for KRTAP10-5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP10-5 Gene

Domains & Families for KRTAP10-5 Gene

Gene Families for KRTAP10-5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KRTAP10-5 Gene

InterPro:

Suggested Antigen Peptide Sequences for KRTAP10-5 Gene

GenScript: Design optimal peptide antigens:
  • Keratin-associated protein 18.5 (KR105_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P60370

UniProtKB/Swiss-Prot:

KR105_HUMAN :
  • Belongs to the KRTAP type 10 family.
Family:
  • Belongs to the KRTAP type 10 family.
genes like me logo Genes that share domains with KRTAP10-5: view

Function for KRTAP10-5 Gene

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  6. Cell Lines for research

Molecular function for KRTAP10-5 Gene

UniProtKB/Swiss-Prot 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 From GWAS Catalog for KRTAP10-5 Gene

Gene Ontology (GO) - Molecular Function for KRTAP10-5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with KRTAP10-5: view
genes like me logo Genes that share phenotypes with KRTAP10-5: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP10-5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRTAP10-5 Gene

Localization for KRTAP10-5 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KRTAP10-5 gene
Compartment Confidence
cytosol 4
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for KRTAP10-5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
GO:0045095 keratin filament IEA --
genes like me logo Genes that share ontologies with KRTAP10-5: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP10-5 Gene

Pathways & Interactions for KRTAP10-5 Gene

PathCards logo

SuperPathways for KRTAP10-5 Gene

SuperPathway Contained pathways
1 Developmental Biology
Developmental Biology
.51
2 Keratinization
Keratinization
.33
genes like me logo Genes that share pathways with KRTAP10-5: view

Pathways by source for KRTAP10-5 Gene

2 Reactome pathways for KRTAP10-5 Gene

Gene Ontology (GO) - Biological Process for KRTAP10-5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP10-5: view

No data available for SIGNOR curated interactions for KRTAP10-5 Gene

Drugs & Compounds for KRTAP10-5 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for KRTAP10-5 Gene

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mRNA/cDNA for KRTAP10-5 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP10-5

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP10-5 Gene

No ASD Table

Relevant External Links for KRTAP10-5 Gene

GeneLoc Exon Structure for
KRTAP10-5

Expression for KRTAP10-5 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRTAP10-5 Gene

mRNA expression in normal human tissues for KRTAP10-5 Gene
mRNA expression by GTEx for KRTAP10-5 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP10-5 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x46.6) and Skin - Sun Exposed (Lower leg) (x5.8).

Protein differential expression in normal tissues from HIPED for KRTAP10-5 Gene

This gene is overexpressed in Hair follicle (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KRTAP10-5 Gene



Protein tissue co-expression partners for KRTAP10-5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRTAP10-5

SOURCE GeneReport for Unigene cluster for KRTAP10-5 Gene:

Hs.688629

mRNA Expression by UniProt/SwissProt for KRTAP10-5 Gene:

P60370-KR105_HUMAN
Tissue specificity: Restricted to a narrow region of the hair fiber cuticle, lying approximately 20 cell layers above the apex of the dermal papilla of the hair root; not detected in any other tissues.

Evidence on tissue expression from TISSUES for KRTAP10-5 Gene

  • Skin(4.1)
genes like me logo Genes that share expression patterns with KRTAP10-5: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTAP10-5 Gene

Orthologs for KRTAP10-5 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP10-5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia KRTAP10-5 29
  • 97.05 (n)
-- 30
  • 74 (a)
 ManyToMany
Mouse
(Mus musculus)
 Mammalia Gm10318 30
  • 57 (a)
 ManyToMany
Cow
(Bos Taurus)
 Mammalia -- 30
  • 52 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 44 (a)
 ManyToMany
-- 30
  • 28 (a)
 ManyToMany
Dog
(Canis familiaris)
 Mammalia -- 30
  • 44 (a)
 ManyToMany
Species where no ortholog for KRTAP10-5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for KRTAP10-5 Gene

ENSEMBL:
Gene Tree for KRTAP10-5 (if available)
TreeFam:
Gene Tree for KRTAP10-5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRTAP10-5: view image
Alliance of Genome Resources:
Additional Orthologs for KRTAP10-5

Paralogs for KRTAP10-5 Gene

Paralogs for KRTAP10-5 Gene

(15) SIMAP similar genes for KRTAP10-5 Gene using alignment to 1 proteins:

  • KR105_HUMAN
genes like me logo Genes that share paralogs with KRTAP10-5: view

Variants for KRTAP10-5 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRTAP10-5 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
rs2020221 -- p.Asp20Asn
rs380585 -- p.Phe183Cys
rs464391 -- p.Arg268Pro
rs464424 -- p.Val235Leu
rs5017208 -- p.Cys4Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KRTAP10-5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KRTAP10-5 Gene

Variant ID Type Subtype PubMed ID
dgv4435n100 CNV gain 25217958
esv2660233 CNV deletion 23128226
esv2723638 CNV deletion 23290073
esv2723674 CNV deletion 23290073
esv2751931 CNV loss 17911159
esv33817 CNV loss 17666407
esv3647132 CNV gain 21293372
esv7169 OTHER inversion 19470904
nsv1055163 CNV gain 25217958
nsv1061423 CNV gain 25217958
nsv587810 CNV gain 21841781

Variation tolerance for KRTAP10-5 Gene

Residual Variation Intolerance Score: 94.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.71; 94.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRTAP10-5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP10-5
Leiden Open Variation Database (LOVD)
KRTAP10-5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP10-5 Gene

Disorders for KRTAP10-5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KRTAP10-5 Gene - From: COP

Disorder Aliases PubMed IDs
three m syndrome 1
  • 3m1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KRTAP10-5

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with KRTAP10-5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KRTAP10-5 Gene

Publications for KRTAP10-5 Gene

  1. Hair keratin associated proteins: characterization of a second high sulfur KAP gene domain on human chromosome 21. (PMID: 14962103) Rogers MA … Schweizer J (The Journal of investigative dermatology 2004) 3 4
  2. A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3. (PMID: 15028290) Shibuya K … Shimizu N (Genomics 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

ExternalLinks

View latest publications for KRTAP10-5 gene in Mastermind

Products for KRTAP10-5 Gene

Sources for KRTAP10-5 Gene