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Aliases for KRTAP5-7 Gene

Aliases for KRTAP5-7 Gene

  • Keratin Associated Protein 5-7 2 3 5
  • Ultrahigh Sulfur Keratin-Associated Protein 5.7 3 4
  • Keratin-Associated Protein 5-3 3 4
  • Keratin-Associated Protein 5.3 3 4
  • Keratin-Associated Protein 5.7 3 4
  • KRTAP5.7 3 4
  • Keratin-Associated Protein 5-7 3
  • KRTAP5.3 4
  • KRTAP5-3 3
  • KAP5.3 4
  • KAP5-7 4

External Ids for KRTAP5-7 Gene

Previous GeneCards Identifiers for KRTAP5-7 Gene

  • GC00U913943
  • GC11P070919
  • GC11P071238
  • GC11P067531
  • GC11P071528

Summaries for KRTAP5-7 Gene

GeneCards Summary for KRTAP5-7 Gene

KRTAP5-7 (Keratin Associated Protein 5-7) is a Protein Coding gene. Among its related pathways are Developmental Biology.

UniProtKB/Swiss-Prot for KRTAP5-7 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.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP5-7 Gene

Genomics for KRTAP5-7 Gene

Regulatory Elements for KRTAP5-7 Gene

Enhancers for KRTAP5-7 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
GH11F071534 0.7 ENCODE 0.4 +7.9 7933 2.0 ELF3 HDAC1 MLX ARID4B DMAP1 ZNF48 ZSCAN9 RARA MIXL1 THAP11 KRTAP5-9 KRTAP5-8 KRTAP5-7
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KRTAP5-7 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the KRTAP5-7 gene promoter:

Genomic Location for KRTAP5-7 Gene

Chromosome:
11
Start:
71,527,267 bp from pter
End:
71,528,674 bp from pter
Size:
1,408 bases
Orientation:
Plus strand

Genomic View for KRTAP5-7 Gene

Genes around KRTAP5-7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP5-7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP5-7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP5-7 Gene

Proteins for KRTAP5-7 Gene

  • Protein details for KRTAP5-7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6L8G8-KRA57_HUMAN
    Recommended name:
    Keratin-associated protein 5-7
    Protein Accession:
    Q6L8G8
    Secondary Accessions:
    • B2RNM3
    • Q701N5

    Protein attributes for KRTAP5-7 Gene

    Size:
    165 amino acids
    Molecular mass:
    15150 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP5-7 Gene

Post-translational modifications for KRTAP5-7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRTAP5-7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP5-7 Gene

Domains & Families for KRTAP5-7 Gene

Gene Families for KRTAP5-7 Gene

Protein Domains for KRTAP5-7 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP5-7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6L8G8

UniProtKB/Swiss-Prot:

KRA57_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 KRTAP5-7: view

Function for KRTAP5-7 Gene

Molecular function for KRTAP5-7 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 for KRTAP5-7 Gene

GenomeRNAi human phenotypes for KRTAP5-7:
genes like me logo Genes that share phenotypes with KRTAP5-7: view

Animal Model Products

miRNA for KRTAP5-7 Gene

miRTarBase miRNAs that target KRTAP5-7

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KRTAP5-7 Gene

Localization for KRTAP5-7 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRTAP5-7 Gene COMPARTMENTS Subcellular localization image for KRTAP5-7 gene
Compartment Confidence
extracellular 3
cytoskeleton 2
cytosol 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KRTAP5-7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045095 keratin filament IEA --
genes like me logo Genes that share ontologies with KRTAP5-7: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRTAP5-7 Gene

Pathways & Interactions for KRTAP5-7 Gene

SuperPathways for KRTAP5-7 Gene

SuperPathway Contained pathways
1 Developmental Biology
genes like me logo Genes that share pathways with KRTAP5-7: view

Pathways by source for KRTAP5-7 Gene

1 Reactome pathway for KRTAP5-7 Gene

Interacting Proteins for KRTAP5-7 Gene

Gene Ontology (GO) - Biological Process for KRTAP5-7 Gene

None

No data available for SIGNOR curated interactions for KRTAP5-7 Gene

Transcripts for KRTAP5-7 Gene

mRNA/cDNA for KRTAP5-7 Gene

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

Unigene Clusters for KRTAP5-7 Gene

Keratin associated protein 5-7:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP5-7 Gene

No ASD Table

Relevant External Links for KRTAP5-7 Gene

GeneLoc Exon Structure for
KRTAP5-7
ECgene alternative splicing isoforms for
KRTAP5-7

Expression for KRTAP5-7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRTAP5-7 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP5-7 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x31.7).

Protein differential expression in normal tissues from HIPED for KRTAP5-7 Gene

This gene is overexpressed in Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KRTAP5-7 Gene



Protein tissue co-expression partners for KRTAP5-7 Gene

- Elite partner

SOURCE GeneReport for Unigene cluster for KRTAP5-7 Gene:

Hs.710675

mRNA Expression by UniProt/SwissProt for KRTAP5-7 Gene:

Q6L8G8-KRA57_HUMAN
Tissue specificity: Expressed in hair root but not in skin.
genes like me logo Genes that share expression patterns with KRTAP5-7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for KRTAP5-7 Gene

Orthologs for KRTAP5-7 Gene

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

Orthologs for KRTAP5-7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRTAP5-7 35
  • 100 (a)
OneToOne
Species where no ortholog for KRTAP5-7 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 KRTAP5-7 Gene

ENSEMBL:
Gene Tree for KRTAP5-7 (if available)
TreeFam:
Gene Tree for KRTAP5-7 (if available)

Paralogs for KRTAP5-7 Gene

No data available for Paralogs for KRTAP5-7 Gene

Variants for KRTAP5-7 Gene

Sequence variations from dbSNP and Humsavar for KRTAP5-7 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs10645872 -- 71,526,772(+) CTAAC(-/CT)CTTTC upstream-variant-2KB
rs10658273 -- 71,526,774(+) AACCT(-/C/CT)TTCCT upstream-variant-2KB
rs10898234 -- 71,525,638(+) AAAAG(A/G)CCCCA upstream-variant-2KB
rs10898241 -- 71,528,252(+) ACACA(C/T)ATCTT downstream-variant-500B
rs111777253 -- 71,525,972(+) AGCTT(A/G)CATCT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for KRTAP5-7 Gene

Variant ID Type Subtype PubMed ID
esv2674144 CNV deletion 23128226
esv2744750 CNV deletion 23290073
esv3626778 CNV loss 21293372
esv3626779 CNV loss 21293372
esv3626780 CNV gain 21293372
esv3626781 CNV gain 21293372
nsv555402 CNV gain 21841781

Variation tolerance for KRTAP5-7 Gene

Residual Variation Intolerance Score: 80.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.90; 79.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRTAP5-7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP5-7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP5-7 Gene

Disorders for KRTAP5-7 Gene

Relevant External Links for KRTAP5-7

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP5-7

No disorders were found for KRTAP5-7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP5-7 Gene

Publications for KRTAP5-7 Gene

  1. Identification of two novel clusters of ultrahigh-sulfur keratin- associated protein genes on human chromosome 11. (PMID: 15144888) Yahagi S. … Shimizu N. (Biochem. Biophys. Res. Commun. 2004) 2 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 64

Products for KRTAP5-7 Gene

Sources for KRTAP5-7 Gene

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