This protein is 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 s... See more...

Aliases for KRTAP4-5 Gene

Aliases for KRTAP4-5 Gene

  • Keratin Associated Protein 4-5 2 3 5
  • KAP4.5 2 3 4
  • Ultrahigh Sulfur Keratin-Associated Protein 4.5 3 4
  • Keratin-Associated Protein 4-5 3 4
  • Keratin-Associated Protein 4.5 3 4
  • KRTAP4.5 3 4
  • KRTAP4-5 5

External Ids for KRTAP4-5 Gene

Previous GeneCards Identifiers for KRTAP4-5 Gene

  • GC17M038890
  • GC17M041409
  • GC17M039213
  • GC17M039678
  • GC17M036559
  • GC17M039305
  • GC17M035082

Summaries for KRTAP4-5 Gene

Entrez Gene Summary for KRTAP4-5 Gene

  • This protein is 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 protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

GeneCards Summary for KRTAP4-5 Gene

KRTAP4-5 (Keratin Associated Protein 4-5) is a Protein Coding gene. Diseases associated with KRTAP4-5 include Hypopharynx Cancer. Among its related pathways are Developmental Biology and Keratinization. An important paralog of this gene is KRTAP4-6.

UniProtKB/Swiss-Prot Summary for KRTAP4-5 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRTAP4-5 Gene

Genomics for KRTAP4-5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KRTAP4-5 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
GH17J041149 Enhancer 0.4 Ensembl 250.7 +0.2 224 0.4 ZIC2 REST SCRT1 SCRT2 KRTAP4-5 KRT38 KRT31 KRTAP4-6 lnc-KRTAP9-7-5
GH17J041120 Enhancer 0.6 Ensembl ENCODE 11.2 +31.3 31324 7 ZIC2 SPI1 MZF1 MNT KRTAP4-11 KRTAP4-6 KRTAP4-5 KRTAP4-4 KRTAP4-3 KRTAP1-5 KRT23 KRTAP4-12 HSALNG0116415-004 lnc-KRTAP9-7-5
GH17J041082 Enhancer 0.5 Ensembl 10.8 +66.4 66425 2.4 ZIC2 MAFF MAFK REST SCRT1 CREB1 SCRT2 KRTAP4-7 KRTAP1-5 KRTAP1-1 KRTAP1-3 KRTAP1-4 KRTAP2-3 KRTAP4-5 KRTAP4-4 KRTAP4-3 KRT37
GH17J041087 Enhancer 0.2 Ensembl 10.9 +61.7 61724 1 HSALNG0116415-002 piR-58929-029 KRTAP4-6 KRTAP2-3 KRTAP2-4 KRTAP2-2 KRTAP2-1 KRTAP4-5 KRTAP4-11 KRTAP4-12
GH17J041140 Enhancer 0.7 Ensembl ENCODE 0.4 +8.8 8821 1.5 ZIC2 RAD51 USF2 ZNF354B TOE1 USF1 SCRT2 KRTAP4-6 SMARCE1 ACLY ENSG00000266208 KRTAP4-5 lnc-KRTAP9-7-5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRTAP4-5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRTAP4-5

Top Transcription factor binding sites by QIAGEN in the KRTAP4-5 gene promoter:
  • AP-4
  • COMP1
  • FOXD1
  • MyoD
  • POU2F1
  • POU2F1a

Genomic Locations for KRTAP4-5 Gene

Latest Assembly
chr17:41,148,924-41,149,825
(GRCh38/hg38)
Size:
902 bases
Orientation:
Minus strand

Previous Assembly
chr17:39,305,176-39,306,077
(GRCh37/hg19 by Entrez Gene)
Size:
902 bases
Orientation:
Minus strand

chr17:39,305,178-39,306,054
(GRCh37/hg19 by Ensembl)
Size:
877 bases
Orientation:
Minus strand

Genomic View for KRTAP4-5 Gene

Genes around KRTAP4-5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP4-5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP4-5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP4-5 Gene

Proteins for KRTAP4-5 Gene

  • Protein details for KRTAP4-5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYR2-KRA45_HUMAN
    Recommended name:
    Keratin-associated protein 4-5
    Protein Accession:
    Q9BYR2

    Protein attributes for KRTAP4-5 Gene

    Size:
    181 amino acids
    Molecular mass:
    19363 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP4-5 Gene

Post-translational modifications for KRTAP4-5 Gene

No Post-translational modifications

Other Protein References for KRTAP4-5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP4-5 Gene

Domains & Families for KRTAP4-5 Gene

Gene Families for KRTAP4-5 Gene

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

Protein Domains for KRTAP4-5 Gene

InterPro:
Blocks:
  • TNFR/CD27/30/40/95 cysteine-rich region
  • von Willebrand factor, type C

Suggested Antigen Peptide Sequences for KRTAP4-5 Gene

GenScript: Design optimal peptide antigens:
  • Ultrahigh sulfur keratin-associated protein 4.5 (KRA45_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BYR2

UniProtKB/Swiss-Prot:

KRA45_HUMAN :
  • Belongs to the KRTAP type 4 family.
Family:
  • Belongs to the KRTAP type 4 family.
genes like me logo Genes that share domains with KRTAP4-5: view

Function for KRTAP4-5 Gene

Molecular function for KRTAP4-5 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 KRTAP4-5 Gene

Gene Ontology (GO) - Molecular Function for KRTAP4-5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with KRTAP4-5: view
genes like me logo Genes that share phenotypes with KRTAP4-5: view

Animal Models for research

miRNA for KRTAP4-5 Gene

miRTarBase miRNAs that target KRTAP4-5

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP4-5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KRTAP4-5 Gene

Localization for KRTAP4-5 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 KRTAP4-5 gene
Compartment Confidence
cytosol 4
extracellular 2
cytoskeleton 2
nucleus 1

Gene Ontology (GO) - Cellular Components for KRTAP4-5 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 KRTAP4-5: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP4-5 Gene

Pathways & Interactions for KRTAP4-5 Gene

PathCards logo

SuperPathways for KRTAP4-5 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP4-5: view

Pathways by source for KRTAP4-5 Gene

2 Reactome pathways for KRTAP4-5 Gene

Gene Ontology (GO) - Biological Process for KRTAP4-5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007568 aging IDA 21916889
GO:0031424 keratinization TAS --
GO:0042633 hair cycle IDA 21916889
genes like me logo Genes that share ontologies with KRTAP4-5: view

No data available for SIGNOR curated interactions for KRTAP4-5 Gene

Drugs & Compounds for KRTAP4-5 Gene

No Compound Related Data Available

Transcripts for KRTAP4-5 Gene

mRNA/cDNA for KRTAP4-5 Gene

1 REFSEQ mRNAs :
1 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 KRTAP4-5

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP4-5 Gene

No ASD Table

Relevant External Links for KRTAP4-5 Gene

GeneLoc Exon Structure for
KRTAP4-5

Expression for KRTAP4-5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRTAP4-5 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP4-5 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x47.0) and Skin - Sun Exposed (Lower leg) (x5.9).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRTAP4-5

SOURCE GeneReport for Unigene cluster for KRTAP4-5 Gene:

Hs.514863

mRNA Expression by UniProt/SwissProt for KRTAP4-5 Gene:

Q9BYR2-KRA45_HUMAN
Tissue specificity: Expressed in the hair follicles.

Evidence on tissue expression from TISSUES for KRTAP4-5 Gene

  • Skin(4)
genes like me logo Genes that share expression patterns with KRTAP4-5: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTAP4-5 Gene

Orthologs for KRTAP4-5 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP4-5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KRTAP4-5 30
  • 94 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Gm11563 30
  • 73 (a)
ManyToMany
Gm11555 30
  • 70 (a)
ManyToMany
Krtap4-1 30
  • 69 (a)
ManyToMany
Krtap4-2 30
  • 68 (a)
ManyToMany
Krtap4-7 30
  • 64 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia -- 30
  • 63 (a)
ManyToMany
-- 30
  • 63 (a)
ManyToMany
-- 30
  • 63 (a)
ManyToMany
-- 30
  • 62 (a)
ManyToMany
KRTAP4-7 30
  • 62 (a)
ManyToMany
-- 30
  • 62 (a)
ManyToMany
Species where no ortholog for KRTAP4-5 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)
  • Dog (Canis familiaris)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • 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 KRTAP4-5 Gene

ENSEMBL:
Gene Tree for KRTAP4-5 (if available)
TreeFam:
Gene Tree for KRTAP4-5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRTAP4-5: view image
Alliance of Genome Resources:
Additional Orthologs for KRTAP4-5

Paralogs for KRTAP4-5 Gene

Variants for KRTAP4-5 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP4-5 Gene

KRA45_HUMAN-Q9BYR2
Numerous size polymorphism are present in KRTAP4 gene family, which are mainly due to variations in the sequence encoding cysteine-rich repeat segments (PubMed:15955084). Allele shown is KAP4.5-v1 (PubMed:15955084).

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRTAP4-5 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs1497383 -- p.Arg22Cys
rs1846044 -- p.Cys125Tyr
rs238829 -- p.Cys6Arg
rs238830 -- p.Arg67His

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KRTAP4-5 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 KRTAP4-5 Gene

Variant ID Type Subtype PubMed ID
esv2715916 CNV deletion 23290073
esv2758690 CNV gain+loss 17122850
nsv1146669 OTHER inversion 26484159
nsv833446 CNV gain 17160897

Variation tolerance for KRTAP4-5 Gene

Residual Variation Intolerance Score: 96.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.81; 98.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRTAP4-5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP4-5
Leiden Open Variation Database (LOVD)
KRTAP4-5

SNP Genotyping and Copy Number Assays for research

Disorders for KRTAP4-5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KRTAP4-5 Gene - From: COP

Disorder Aliases PubMed IDs
hypopharynx cancer
  • hypopharyngeal cancer
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KRTAP4-5

Human Genome Epidemiology Navigator
(HuGE)
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 KRTAP4-5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KRTAP4-5 Gene

Publications for KRTAP4-5 Gene

  1. Characterization of a cluster of human high/ultrahigh sulfur keratin-associated protein genes embedded in the type I keratin gene domain on chromosome 17q12-21. (PMID: 11279113) Rogers MA … Schweizer J (The Journal of biological chemistry 2001) 2 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  3. Size polymorphisms in the human ultrahigh sulfur hair keratin-associated protein 4, KAP4, gene family. (PMID: 15955084) Kariya N … Ito M (The Journal of investigative dermatology 2005) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for KRTAP4-5 Gene

Sources for KRTAP4-5 Gene