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Aliases for KRTAP11-1 Gene

Aliases for KRTAP11-1 Gene

  • Keratin Associated Protein 11-1 2 3
  • High Sulfur Keratin-Associated Protein 11.1 3 4
  • KAP11.1 3 4
  • KRTAP11.1 4
  • HACL-1 3
  • HACL1 3

External Ids for KRTAP11-1 Gene

Previous GeneCards Identifiers for KRTAP11-1 Gene

  • GC21U900012
  • GC21M031173
  • GC21M031174
  • GC21M032252
  • GC21M017662

Summaries for KRTAP11-1 Gene

GeneCards Summary for KRTAP11-1 Gene

KRTAP11-1 (Keratin Associated Protein 11-1) is a Protein Coding gene. Diseases associated with KRTAP11-1 include white sponge nevus 1 and dowling-degos disease. Among its related pathways are Metabolism and Peroxisomal lipid metabolism. GO annotations related to this gene include structural molecule activity.

UniProtKB/Swiss-Prot for KRTAP11-1 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 Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP11-1 Gene

Genomics for KRTAP11-1 Gene

Regulatory Elements for KRTAP11-1 Gene

Genomic Location for KRTAP11-1 Gene

Chromosome:
21
Start:
30,880,644 bp from pter
End:
30,881,555 bp from pter
Size:
912 bases
Orientation:
Minus strand

Genomic View for KRTAP11-1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KRTAP11-1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP11-1 Gene

Proteins for KRTAP11-1 Gene

  • Protein details for KRTAP11-1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IUC1-KR111_HUMAN
    Recommended name:
    Keratin-associated protein 11-1
    Protein Accession:
    Q8IUC1
    Secondary Accessions:
    • A1L4I8

    Protein attributes for KRTAP11-1 Gene

    Size:
    163 amino acids
    Molecular mass:
    17085 Da
    Quaternary structure:
    No Data Available

neXtProt entry for KRTAP11-1 Gene

Proteomics data for KRTAP11-1 Gene at MOPED

Post-translational modifications for KRTAP11-1 Gene

No Post-translational modifications

Other Protein References for KRTAP11-1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for KRTAP11-1 Gene

Domains & Families for KRTAP11-1 Gene

Gene Families for KRTAP11-1 Gene

Protein Domains for KRTAP11-1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP11-1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IUC1

UniProtKB/Swiss-Prot:

KR111_HUMAN :
  • Belongs to the PMG family.
Family:
  • Belongs to the PMG family.
genes like me logo Genes that share domains with KRTAP11-1: view

Function for KRTAP11-1 Gene

Molecular function for KRTAP11-1 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

Gene Ontology (GO) - Molecular Function for KRTAP11-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
genes like me logo Genes that share ontologies with KRTAP11-1: view
genes like me logo Genes that share phenotypes with KRTAP11-1: view

Animal Model Products

CRISPR Products

miRNA for KRTAP11-1 Gene

miRTarBase miRNAs that target KRTAP11-1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for KRTAP11-1 Gene

Localization for KRTAP11-1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRTAP11-1 Gene COMPARTMENTS Subcellular localization image for KRTAP11-1 gene
Compartment Confidence
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for KRTAP11-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045095 keratin filament IEA --
genes like me logo Genes that share ontologies with KRTAP11-1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRTAP11-1 Gene

Pathways & Interactions for KRTAP11-1 Gene

genes like me logo Genes that share pathways with KRTAP11-1: view

Pathways by source for KRTAP11-1 Gene

1 KEGG pathway for KRTAP11-1 Gene

Interacting Proteins for KRTAP11-1 Gene

Gene Ontology (GO) - Biological Process for KRTAP11-1 Gene

None

No data available for SIGNOR curated interactions for KRTAP11-1 Gene

Drugs & Compounds for KRTAP11-1 Gene

No Compound Related Data Available

Transcripts for KRTAP11-1 Gene

mRNA/cDNA for KRTAP11-1 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP11-1 Gene

No ASD Table

Relevant External Links for KRTAP11-1 Gene

GeneLoc Exon Structure for
KRTAP11-1
ECgene alternative splicing isoforms for
KRTAP11-1

Expression for KRTAP11-1 Gene

mRNA expression in normal human tissues for KRTAP11-1 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP11-1 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x45.9) and Skin - Sun Exposed (Lower leg) (x6.1).

Protein differential expression in normal tissues from HIPED for KRTAP11-1 Gene

This gene is overexpressed in Liver (63.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KRTAP11-1 Gene



SOURCE GeneReport for Unigene cluster for KRTAP11-1 Gene Hs.407654

mRNA Expression by UniProt/SwissProt for KRTAP11-1 Gene

Q8IUC1-KR111_HUMAN
Tissue specificity: Expressed in the upper matrix and in the entire hair cortex
genes like me logo Genes that share expression patterns with KRTAP11-1: view

Protein tissue co-expression partners for KRTAP11-1 Gene

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

Orthologs for KRTAP11-1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP11-1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KRTAP11-1 35
  • 83.44 (n)
  • 81.76 (a)
KRTAP11-1 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KRTAP11-1 35
  • 85.19 (n)
  • 82.35 (a)
KRTAP11-1 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Krtap11-1 35
  • 82.82 (n)
  • 82.21 (a)
Krtap11-1 16
Krtap11-1 36
  • 74 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KRTAP11-1 35
  • 98.77 (n)
  • 98.16 (a)
KRTAP11-1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Krtap11-1 35
  • 82.41 (n)
  • 80.37 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia KRTAP11-1 36
  • 61 (a)
OneToOne
Species with no ortholog for KRTAP11-1:
  • 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 KRTAP11-1 Gene

ENSEMBL:
Gene Tree for KRTAP11-1 (if available)
TreeFam:
Gene Tree for KRTAP11-1 (if available)

Paralogs for KRTAP11-1 Gene

No data available for Paralogs for KRTAP11-1 Gene

Variants for KRTAP11-1 Gene

Sequence variations from dbSNP and Humsavar for KRTAP11-1 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type MAF
VAR_053467 -

Structural Variations from Database of Genomic Variants (DGV) for KRTAP11-1 Gene

Variant ID Type Subtype PubMed ID
nsv834077 CNV Gain 17160897
nsv518454 CNV Loss 19592680
nsv834078 CNV Gain 17160897

Variation tolerance for KRTAP11-1 Gene

Residual Variation Intolerance Score: 64.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.41; 90.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRTAP11-1 Gene

HapMap Linkage Disequilibrium report
KRTAP11-1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP11-1 Gene

Disorders for KRTAP11-1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for KRTAP11-1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
white sponge nevus 1
  • hereditary mucosal leukokeratosis
dowling-degos disease
  • dark dot disease
- elite association

Relevant External Links for KRTAP11-1

Genetic Association Database (GAD)
KRTAP11-1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP11-1
genes like me logo Genes that share disorders with KRTAP11-1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KRTAP11-1 Gene

Publications for KRTAP11-1 Gene

  1. Characterization of a first domain of human high glycine-tyrosine and high sulfur keratin-associated protein (KAP) genes on chromosome 21q22.1. (PMID: 12359730) Rogers M.A. … Schweizer J. (J. Biol. Chem. 2002) 2 67
  2. The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. (PMID: 24705354) Butland S.L. … Hayden M.R. (Hum. Mol. Genet. 2014) 67
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 67
  4. Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters. (PMID: 20494980) Warnatz H.J. … Yaspo M.L. (Nucleic Acids Res. 2010) 67
  5. Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study. (PMID: 17903303) O'Donnell C.J. … Demissie S. (BMC Med. Genet. 2007) 67

Products for KRTAP11-1 Gene

Sources for KRTAP11-1 Gene

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