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Aliases for KRTAP4-4 Gene

Aliases for KRTAP4-4 Gene

  • Keratin Associated Protein 4-4 2 3 5
  • Ultrahigh Sulfur Keratin-Associated Protein 4.13 3 4
  • Ultrahigh Sulfur Keratin-Associated Protein 4.4 3 4
  • Keratin-Associated Protein 4-13 3 4
  • Keratin-Associated Protein 4.13 3 4
  • KRTAP4-13 3 4
  • KRTAP4.13 3 4
  • KRTAP4.4 3 4
  • KAP4.13 3 4
  • KAP4.4 3 4
  • Keratin Associated Protein 4-13 2
  • Keratin Associated Protein 4.4 3
  • Keratin-Associated Protein 4-4 3
  • Keratin-Associated Protein 4.4 4

External Ids for KRTAP4-4 Gene

Previous HGNC Symbols for KRTAP4-4 Gene

  • KRTAP4-13

Previous GeneCards Identifiers for KRTAP4-4 Gene

  • GC17M038900
  • GC17M041421
  • GC17M039206
  • GC17M039670
  • GC17M039673
  • GC17M036570
  • GC17M039315
  • GC17M035091

Summaries for KRTAP4-4 Gene

Entrez Gene Summary for KRTAP4-4 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 KRTAP4-4 Gene

KRTAP4-4 (Keratin Associated Protein 4-4) is a Protein Coding gene. Among its related pathways are Keratinization and Developmental Biology. An important paralog of this gene is KRTAP4-12.

UniProtKB/Swiss-Prot for KRTAP4-4 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 KRTAP4-4 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP4-4 Gene

Genomics for KRTAP4-4 Gene

Regulatory Elements for KRTAP4-4 Gene

Enhancers for KRTAP4-4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H041131 0.5 ENCODE 10.3 +28.7 28653 1 JUND JUNB FOS ETV6 BATF KRTAP2-3 KRTAP4-4 KRTAP4-3 KRTAP1-4 KRTAP1-5 KRTAP4-6 ENSG00000266208 GC17P041125
GH17H041133 0.4 ENCODE 10.5 +26.4 26404 1 FOXA2 KRTAP2-3 KRTAP4-4 KRTAP4-3 KRTAP1-4 KRTAP1-5 KRT34 KRTAP4-6 ENSG00000266208 GC17P041125
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KRTAP4-4 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRTAP4-4 Gene

Chromosome:
17
Start:
41,159,651 bp from pter
End:
41,160,731 bp from pter
Size:
1,081 bases
Orientation:
Minus strand

Genomic View for KRTAP4-4 Gene

Genes around KRTAP4-4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP4-4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP4-4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP4-4 Gene

Proteins for KRTAP4-4 Gene

  • Protein details for KRTAP4-4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYR3-KRA44_HUMAN
    Recommended name:
    Keratin-associated protein 4-4
    Protein Accession:
    Q9BYR3
    Secondary Accessions:
    • Q9BYU7

    Protein attributes for KRTAP4-4 Gene

    Size:
    166 amino acids
    Molecular mass:
    18023 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP4-4 Gene

Post-translational modifications for KRTAP4-4 Gene

No Post-translational modifications

Other Protein References for KRTAP4-4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP4-4 Gene

Domains & Families for KRTAP4-4 Gene

Gene Families for KRTAP4-4 Gene

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

Protein Domains for KRTAP4-4 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP4-4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BYR3

UniProtKB/Swiss-Prot:

KRA44_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 KRTAP4-4: view

Function for KRTAP4-4 Gene

Molecular function for KRTAP4-4 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.
genes like me logo Genes that share phenotypes with KRTAP4-4: view

Animal Model Products

CRISPR Products

miRNA for KRTAP4-4 Gene

miRTarBase miRNAs that target KRTAP4-4

Clone Products

  • Applied Biological Materials Clones for KRTAP4-4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KRTAP4-4 Gene

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

Gene Ontology (GO) - Cellular Components for KRTAP4-4 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 KRTAP4-4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP4-4 Gene

Pathways & Interactions for KRTAP4-4 Gene

SuperPathways for KRTAP4-4 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP4-4: view

Pathways by source for KRTAP4-4 Gene

2 Reactome pathways for KRTAP4-4 Gene

Interacting Proteins for KRTAP4-4 Gene

Gene Ontology (GO) - Biological Process for KRTAP4-4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP4-4: view

No data available for SIGNOR curated interactions for KRTAP4-4 Gene

Drugs & Compounds for KRTAP4-4 Gene

No Compound Related Data Available

Transcripts for KRTAP4-4 Gene

mRNA/cDNA for KRTAP4-4 Gene

(1) REFSEQ mRNAs :
(2) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for KRTAP4-4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP4-4 Gene

No ASD Table

Relevant External Links for KRTAP4-4 Gene

GeneLoc Exon Structure for
KRTAP4-4
ECgene alternative splicing isoforms for
KRTAP4-4

Expression for KRTAP4-4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRTAP4-4 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP4-4 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x48.3) and Skin - Sun Exposed (Lower leg) (x4.5).

Protein differential expression in normal tissues from HIPED for KRTAP4-4 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 KRTAP4-4 Gene



Protein tissue co-expression partners for KRTAP4-4 Gene

SOURCE GeneReport for Unigene cluster for KRTAP4-4 Gene:

Hs.307022

mRNA Expression by UniProt/SwissProt for KRTAP4-4 Gene:

Q9BYR3-KRA44_HUMAN
Tissue specificity: Expressed in the hair follicles.

Evidence on tissue expression from TISSUES for KRTAP4-4 Gene

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

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 KRTAP4-4 Gene

Orthologs for KRTAP4-4 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP4-4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRTAP4-4 33 34
  • 99.4 (n)
oppossum
(Monodelphis domestica)
Mammalia KRTAP4-4 34
  • 59 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 34
  • 55 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia 2300003K06Rik 34
  • 42 (a)
ManyToMany
Species where no ortholog for KRTAP4-4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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 squirt (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 KRTAP4-4 Gene

ENSEMBL:
Gene Tree for KRTAP4-4 (if available)
TreeFam:
Gene Tree for KRTAP4-4 (if available)

Paralogs for KRTAP4-4 Gene

(9) SIMAP similar genes for KRTAP4-4 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KRTAP4-4: view

Variants for KRTAP4-4 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP4-4 Gene

KRA44_HUMAN-Q9BYR3
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).

Sequence variations from dbSNP and Humsavar for KRTAP4-4 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1001112921 -- 41,159,168(+) TGGGT(A/C)CCCAC downstream-variant-500B
rs1001439005 -- 41,159,398(+) TCTCA(C/G)TCATT downstream-variant-500B
rs1001765574 -- 41,162,277(+) GGATG(A/T)TAAAG upstream-variant-2KB
rs1001844040 -- 41,160,815(+) AGCAC(C/T)CTTTC upstream-variant-2KB
rs1001960677 -- 41,159,723(+) CATAT(A/G)AGAAA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for KRTAP4-4 Gene

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

Variation tolerance for KRTAP4-4 Gene

Residual Variation Intolerance Score: 87.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.23; 90.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRTAP4-4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP4-4

Disorders for KRTAP4-4 Gene

Relevant External Links for KRTAP4-4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP4-4

No disorders were found for KRTAP4-4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP4-4 Gene

Publications for KRTAP4-4 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 60
  2. 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 60
  3. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 4 60

Products for KRTAP4-4 Gene

Sources for KRTAP4-4 Gene

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