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Aliases for KRTAP1-1 Gene

Aliases for KRTAP1-1 Gene

  • Keratin Associated Protein 1-1 2 3 5
  • High Sulfur Keratin-Associated Protein 1.1 3 4
  • Keratin-Associated Protein 1.1 3 4
  • Keratin-Associated Protein 1.6 3 4
  • Keratin-Associated Protein 1.7 3 4
  • KRTAP1.1 3 4
  • KAP1.1 3 4
  • KAP1.6 3 4
  • KAP1.7 3 4
  • Keratin Associated Protein 1.7 3
  • Keratin Associated Protein 1A 3
  • KAP1.1A 3
  • KAP1.1B 3
  • KRTAP1A 3
  • HKAP1.7 3
  • HB2A 3
  • B2A 4

External Ids for KRTAP1-1 Gene

Previous GeneCards Identifiers for KRTAP1-1 Gene

  • GC17M038698
  • GC17M041372
  • GC17M039105
  • GC17M039569
  • GC17M036452
  • GC17M039196
  • GC17M034991

Summaries for KRTAP1-1 Gene

Entrez Gene Summary for KRTAP1-1 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 high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

GeneCards Summary for KRTAP1-1 Gene

KRTAP1-1 (Keratin Associated Protein 1-1) is a Protein Coding gene. Diseases associated with KRTAP1-1 include Secondary Hypertrophic Osteoarthropathy. An important paralog of this gene is KRTAP1-5.

UniProtKB/Swiss-Prot for KRTAP1-1 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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP1-1 Gene

Genomics for KRTAP1-1 Gene

Regulatory Elements for KRTAP1-1 Gene

Enhancers for KRTAP1-1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KRTAP1-1 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRTAP1-1 Gene

Chromosome:
17
Start:
41,040,559 bp from pter
End:
41,041,461 bp from pter
Size:
903 bases
Orientation:
Minus strand

Genomic View for KRTAP1-1 Gene

Genes around KRTAP1-1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP1-1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP1-1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP1-1 Gene

Proteins for KRTAP1-1 Gene

  • Protein details for KRTAP1-1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q07627-KRA11_HUMAN
    Recommended name:
    Keratin-associated protein 1-1
    Protein Accession:
    Q07627
    Secondary Accessions:
    • A6NC32
    • Q96S60
    • Q96S67

    Protein attributes for KRTAP1-1 Gene

    Size:
    177 amino acids
    Molecular mass:
    18235 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP1-1 Gene

Proteomics data for KRTAP1-1 Gene at MOPED

Post-translational modifications for KRTAP1-1 Gene

No Post-translational modifications

Other Protein References for KRTAP1-1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP1-1 Gene

Domains & Families for KRTAP1-1 Gene

Gene Families for KRTAP1-1 Gene

Protein Domains for KRTAP1-1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP1-1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q07627

UniProtKB/Swiss-Prot:

KRA11_HUMAN :
  • Belongs to the KRTAP type 1 family.
Family:
  • Belongs to the KRTAP type 1 family.
genes like me logo Genes that share domains with KRTAP1-1: view

Function for KRTAP1-1 Gene

Molecular function for KRTAP1-1 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 for KRTAP1-1 Gene

genes like me logo Genes that share phenotypes with KRTAP1-1: view

Animal Model Products

CRISPR 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 KRTAP1-1 Gene

Localization for KRTAP1-1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRTAP1-1 Gene COMPARTMENTS Subcellular localization image for KRTAP1-1 gene
Compartment Confidence
cytosol 3
extracellular 3
cytoskeleton 2
nucleus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for KRTAP1-1 Gene

Pathways & Interactions for KRTAP1-1 Gene

SuperPathways for KRTAP1-1 Gene

No Data Available

Interacting Proteins for KRTAP1-1 Gene

Gene Ontology (GO) - Biological Process for KRTAP1-1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KRTAP1-1 Gene

Drugs & Compounds for KRTAP1-1 Gene

No Compound Related Data Available

Transcripts for KRTAP1-1 Gene

mRNA/cDNA for KRTAP1-1 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP1-1 Gene

No ASD Table

Relevant External Links for KRTAP1-1 Gene

GeneLoc Exon Structure for
KRTAP1-1
ECgene alternative splicing isoforms for
KRTAP1-1

Expression for KRTAP1-1 Gene

mRNA expression in normal human tissues for KRTAP1-1 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP1-1 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x49.0).

SOURCE GeneReport for Unigene cluster for KRTAP1-1 Gene Hs.247934

mRNA Expression by UniProt/SwissProt for KRTAP1-1 Gene

Q07627-KRA11_HUMAN
Tissue specificity: Expressed in the middle/upper portions of the hair cortex, in the region termed the keratogenous zone.
genes like me logo Genes that share expression patterns with KRTAP1-1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for KRTAP1-1 Gene

Orthologs for KRTAP1-1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP1-1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC788284 35
  • 84.57 (n)
  • 80.17 (a)
-- 36
  • 70 (a)
ManyToMany
KRTAP1-1 36
  • 72 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia LOC102151527 35
  • 88.42 (n)
  • 83.69 (a)
mouse
(Mus musculus)
Mammalia Krtap1-3 35
  • 81.7 (n)
  • 79.08 (a)
Krtap1-3 16
Krtap1-3 36
  • 66 (a)
ManyToMany
Krtap1-4 36
  • 57 (a)
ManyToMany
Krtap1-5 36
  • 84 (a)
ManyToMany
Krtap9-3 36
  • 76 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia KRTAP1-1 35
  • 98.12 (n)
  • 97.18 (a)
rat
(Rattus norvegicus)
Mammalia Krtap1-3 35
  • 75.98 (n)
  • 71.43 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 45 (a)
OneToMany
Species with no ortholog for KRTAP1-1:
  • 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)
  • 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)
  • 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 KRTAP1-1 Gene

ENSEMBL:
Gene Tree for KRTAP1-1 (if available)
TreeFam:
Gene Tree for KRTAP1-1 (if available)

Paralogs for KRTAP1-1 Gene

Paralogs for KRTAP1-1 Gene

(3) SIMAP similar genes for KRTAP1-1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KRTAP1-1: view

Variants for KRTAP1-1 Gene

Structural Variations from Database of Genomic Variants (DGV) for KRTAP1-1 Gene

Variant ID Type Subtype PubMed ID
nsv9550 CNV Loss 18304495
nsv908230 CNV Loss 21882294
dgv3167n71 CNV Loss 21882294
nsv908232 CNV Loss 21882294
esv2659091 CNV Deletion 23128226
esv2715913 CNV Deletion 23290073
esv2495620 CNV Deletion 19546169
esv2245745 CNV Deletion 18987734
esv2669743 CNV Deletion 23128226
esv2715914 CNV Deletion 23290073

Variation tolerance for KRTAP1-1 Gene

Residual Variation Intolerance Score: 93.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.20; 76.00% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar and Relevant External Links for KRTAP1-1 Gene

Disorders for KRTAP1-1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KRTAP1-1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
secondary hypertrophic osteoarthropathy
  • bamberger-marie disease
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KRTAP1-1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP1-1
genes like me logo Genes that share disorders with KRTAP1-1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KRTAP1-1 Gene

Publications for KRTAP1-1 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 M.A. … Schweizer J. (J. Biol. Chem. 2001) 2 3 4 67
  2. Krtap11-1, a hair keratin-associated protein, as a possible crucial element for the physical properties of hair shafts. (PMID: 24439038) Fujimoto S. … Hirai Y. (J. Dermatol. Sci. 2014) 3
  3. 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) 3
  4. hKAP1.6 and hKAP1.7, two novel human high sulfur keratin-associated proteins are expressed in the hair follicle cortex. (PMID: 11841537) Shimomura Y. … Ito M. (J. Invest. Dermatol. 2002) 3
  5. Polymorphisms in the human high sulfur hair keratin-associated protein 1, KAP1, gene family. (PMID: 12228244) Shimomura Y. … Ito M. (J. Biol. Chem. 2002) 3

Products for KRTAP1-1 Gene

Sources for KRTAP1-1 Gene

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