Aliases for KRTAP5-5 Gene

Aliases for KRTAP5-5 Gene

  • Keratin Associated Protein 5-5 2 3 5
  • Ultrahigh Sulfur Keratin-Associated Protein 5.5 3 4
  • Keratin-Associated Protein 5.11 3 4
  • Keratin-Associated Protein 5-5 3 4
  • Keratin-Associated Protein 5.5 3 4
  • KRTAP5-11 3 4
  • KRTAP5.5 3 4
  • Keratin Associated Protein 5-11 3
  • Keratin-Associated Protein 5-11 4
  • KRTAP5.11 4
  • KAP5-11 4
  • KAP5.5 4

External Ids for KRTAP5-5 Gene

Previous GeneCards Identifiers for KRTAP5-5 Gene

  • GC00U913942
  • GC11P001609
  • GC11P001444

Summaries for KRTAP5-5 Gene

GeneCards Summary for KRTAP5-5 Gene

KRTAP5-5 (Keratin Associated Protein 5-5) is a Protein Coding gene. Among its related pathways are Keratinization and Developmental Biology. An important paralog of this gene is KRTAP5-8.

UniProtKB/Swiss-Prot Summary for KRTAP5-5 Gene

  • In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (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 KRTAP5-5 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRTAP5-5 Gene

Genomics for KRTAP5-5 Gene

GeneHancer (GH) Regulatory Elements for KRTAP5-5 Gene

Promoters and enhancers for KRTAP5-5 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
GH11J001628 Enhancer 1 Ensembl ENCODE CraniofacialAtlas 510.9 -0.8 -789 0.8 CTCF ZNF10 ZIC2 ZBTB10 GABPA REST ZBTB25 RAD21 TRIM22 SMC3 KRTAP5-5 KRTAP5-AS1 HSALNG0082124
GH11J002131 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.8 +512.3 512331 21.1 CTCF NRF1 POLR2G USF1 NCOR1 FOS ZIC2 ZBTB10 FOXA1 ZBTB26 IGF2 IGF2-AS RF00483 INS-IGF2 CD81 ENSG00000199550 LSP1 FAM99B LINC02708 KRTAP5-6
GH11J001567 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.8 -58.8 -58772 8 EP300 CTCF USF1 PHF8 JUND FOS ZFX ZNF10 ZIC2 KDM6A KRTAP5-AS1 DUSP8 KRTAP5-2 KRTAP5-5 MOB2 piR-42694-025
GH11J001671 Enhancer 1.4 FANTOM5 Ensembl ENCODE CraniofacialAtlas 11.6 +45.1 45093 6 EP300 NCOR1 KDM6A TCF7 ZBTB25 SKI TEAD1 TBX3 ZSCAN9 FOXA2 lnc-KRTAP5-4-4 KRTAP5-5 LSP1 IFITM10 LINC02708 FAM99B ASCL2 KRTAP5-6
GH11J001556 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 10.8 -70.5 -70509 3.5 ZNF217 TEAD4 ZFX ZIC2 CLOCK KLF4 EP300 CTBP1 SIN3A MYC KRTAP5-AS1 MOB2 KRTAP5-2 KRTAP5-1 KRTAP5-5 DUSP8 piR-42694-025
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRTAP5-5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRTAP5-5

Top Transcription factor binding sites by QIAGEN in the KRTAP5-5 gene promoter:
  • AP-4
  • FOXC1
  • FOXD1
  • FOXF2
  • FOXJ2
  • FOXJ2 (long isoform)
  • HFH-1

Genomic Locations for KRTAP5-5 Gene

Genomic Locations for KRTAP5-5 Gene
chr11:1,629,775-1,630,930
(GRCh38/hg38)
Size:
1,156 bases
Orientation:
Plus strand
chr11:1,651,033-1,652,160
(GRCh37/hg19)
Size:
1,128 bases
Orientation:
Plus strand

Genomic View for KRTAP5-5 Gene

Genes around KRTAP5-5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP5-5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP5-5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP5-5 Gene

Proteins for KRTAP5-5 Gene

  • Protein details for KRTAP5-5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q701N2-KRA55_HUMAN
    Recommended name:
    Keratin-associated protein 5-5
    Protein Accession:
    Q701N2
    Secondary Accessions:
    • A8MWN2

    Protein attributes for KRTAP5-5 Gene

    Size:
    237 amino acids
    Molecular mass:
    21409 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP5-5 Gene

Post-translational modifications for KRTAP5-5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRTAP5-5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP5-5 Gene

Domains & Families for KRTAP5-5 Gene

Gene Families for KRTAP5-5 Gene

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

Protein Domains for KRTAP5-5 Gene

Blocks:
  • von Willebrand factor, type C
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP5-5 Gene

GenScript: Design optimal peptide antigens:
  • Ultrahigh sulfur keratin-associated protein 5.5 (KRA55_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q701N2

UniProtKB/Swiss-Prot:

KRA55_HUMAN :
  • Belongs to the KRTAP type 5 family.
Family:
  • Belongs to the KRTAP type 5 family.
genes like me logo Genes that share domains with KRTAP5-5: view

Function for KRTAP5-5 Gene

Molecular function for KRTAP5-5 Gene

UniProtKB/Swiss-Prot Function:
In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (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 KRTAP5-5 Gene

Phenotypes for KRTAP5-5 Gene

genes like me logo Genes that share phenotypes with KRTAP5-5: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRTAP5-5 Gene

Localization for KRTAP5-5 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 KRTAP5-5 gene
Compartment Confidence
cytosol 4
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for KRTAP5-5 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 KRTAP5-5: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP5-5 Gene

Pathways & Interactions for KRTAP5-5 Gene

PathCards logo

SuperPathways for KRTAP5-5 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP5-5: view

Pathways by source for KRTAP5-5 Gene

2 Reactome pathways for KRTAP5-5 Gene

Interacting Proteins for KRTAP5-5 Gene

;

Gene Ontology (GO) - Biological Process for KRTAP5-5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP5-5: view

No data available for SIGNOR curated interactions for KRTAP5-5 Gene

Drugs & Compounds for KRTAP5-5 Gene

No Compound Related Data Available

Transcripts for KRTAP5-5 Gene

mRNA/cDNA for KRTAP5-5 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP5-5 Gene

No ASD Table

Relevant External Links for KRTAP5-5 Gene

GeneLoc Exon Structure for
KRTAP5-5

Expression for KRTAP5-5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRTAP5-5 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP5-5 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x44.8) and Skin - Sun Exposed (Lower leg) (x4.1).

Protein differential expression in normal tissues from HIPED for KRTAP5-5 Gene

This gene is overexpressed in Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KRTAP5-5 Gene



Protein tissue co-expression partners for KRTAP5-5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRTAP5-5

SOURCE GeneReport for Unigene cluster for KRTAP5-5 Gene:

Hs.653467

mRNA Expression by UniProt/SwissProt for KRTAP5-5 Gene:

Q701N2-KRA55_HUMAN
Tissue specificity: Restricted to hair root, not detected in any other tissues.

Evidence on tissue expression from TISSUES for KRTAP5-5 Gene

  • Skin(4)
genes like me logo Genes that share expression patterns with KRTAP5-5: 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 KRTAP5-5 Gene

Orthologs for KRTAP5-5 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for KRTAP5-5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRTAP5-5 31
  • 94 (a)
OneToOne
Species where no ortholog for KRTAP5-5 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)
  • cow (Bos Taurus)
  • 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)
  • mouse (Mus musculus)
  • 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 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 KRTAP5-5 Gene

ENSEMBL:
Gene Tree for KRTAP5-5 (if available)
TreeFam:
Gene Tree for KRTAP5-5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRTAP5-5: view image

Paralogs for KRTAP5-5 Gene

Variants for KRTAP5-5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRTAP5-5 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs77039648 Benign: not specified 1,630,415(+) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for KRTAP5-5 Gene

Structural Variations from Database of Genomic Variants (DGV) for KRTAP5-5 Gene

Variant ID Type Subtype PubMed ID
dgv1554n54 CNV loss 21841781
esv2743949 CNV deletion 23290073
esv2761643 CNV gain 21179565
esv3579241 CNV loss 25503493
nsv1051627 CNV gain 25217958
nsv467644 CNV loss 19166990
nsv552999 CNV gain 21841781
nsv553000 CNV gain 21841781
nsv553002 CNV loss 21841781

Variation tolerance for KRTAP5-5 Gene

Residual Variation Intolerance Score: 94.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.47; 97.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRTAP5-5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP5-5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP5-5 Gene

Disorders for KRTAP5-5 Gene

Additional Disease Information for KRTAP5-5

No disorders were found for KRTAP5-5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP5-5 Gene

Publications for KRTAP5-5 Gene

  1. Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11. (PMID: 15144888) Yahagi S … Shimizu N (Biochemical and biophysical research communications 2004) 2 3 4 54
  2. Human gingiva transcriptome during wound healing. (PMID: 28005267) Wang Y … Tatakis DN (Journal of clinical periodontology 2017) 3 54
  3. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor TD … Sakaki Y (Nature 2006) 4 54

Products for KRTAP5-5 Gene

Sources for KRTAP5-5 Gene