Aliases for KRTAP10-11 Gene

Aliases for KRTAP10-11 Gene

  • Keratin Associated Protein 10-11 2 3 5
  • KRTAP18.11 2 3 4
  • KAP10.11 2 3 4
  • High Sulfur Keratin-Associated Protein 10.11 3 4
  • Keratin Associated Protein 18-11 2 3
  • Keratin-Associated Protein 10-11 3 4
  • Keratin-Associated Protein 10.11 3 4
  • Keratin-Associated Protein 18.11 3 4
  • KRTAP18-11 3 4
  • KAP18.11 2 3
  • High Sulfur Keratin-Associated Protein 10.9 3
  • Keratin-Associated Protein 18-11 4
  • Keratin-Associated Protein 10-9 3
  • Keratin-Associated Protein 10.9 3
  • Keratin-Associated Protein 18-9 3
  • Keratin-Associated Protein 18.9 3
  • KRTAP10-11 5
  • KRTAP10.11 4
  • KRTAP10-9 3
  • KRTAP10.9 3
  • KRTAP18-9 3
  • KRTAP18.9 3
  • KAP18-11 4
  • KAP10.9 3
  • KAP18-9 3

External Ids for KRTAP10-11 Gene

Previous HGNC Symbols for KRTAP10-11 Gene

  • KRTAP18-11

Previous GeneCards Identifiers for KRTAP10-11 Gene

  • GC21P044890
  • GC21P044883
  • GC21P046066
  • GC21P031440

Summaries for KRTAP10-11 Gene

GeneCards Summary for KRTAP10-11 Gene

KRTAP10-11 (Keratin Associated Protein 10-11) is a Protein Coding gene. Diseases associated with KRTAP10-11 include Three M Syndrome 1. Among its related pathways are Developmental Biology and Keratinization. An important paralog of this gene is KRTAP10-9.

UniProtKB/Swiss-Prot Summary for KRTAP10-11 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 KRTAP10-11 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRTAP10-11 Gene

Genomics for KRTAP10-11 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KRTAP10-11 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRTAP10-11 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRTAP10-11

Top Transcription factor binding sites by QIAGEN in the KRTAP10-11 gene promoter:
  • AP-4
  • c-Myc
  • E47
  • GR
  • GR-alpha
  • GR-beta
  • Max1
  • Olf-1
  • SEF-1 (1)

Genomic Locations for KRTAP10-11 Gene

Genomic Locations for KRTAP10-11 Gene
chr21:44,646,414-44,647,650
(GRCh38/hg38)
Size:
1,237 bases
Orientation:
Plus strand
chr21:46,066,331-46,067,567
(GRCh37/hg19)
Size:
1,237 bases
Orientation:
Plus strand

Genomic View for KRTAP10-11 Gene

Genes around KRTAP10-11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP10-11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP10-11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP10-11 Gene

Proteins for KRTAP10-11 Gene

  • Protein details for KRTAP10-11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P60412-KR10B_HUMAN
    Recommended name:
    Keratin-associated protein 10-11
    Protein Accession:
    P60412
    Secondary Accessions:
    • A2RRF9

    Protein attributes for KRTAP10-11 Gene

    Size:
    298 amino acids
    Molecular mass:
    30243 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP10-11 Gene

Post-translational modifications for KRTAP10-11 Gene

No Post-translational modifications

Other Protein References for KRTAP10-11 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP10-11 Gene

Domains & Families for KRTAP10-11 Gene

Gene Families for KRTAP10-11 Gene

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

Protein Domains for KRTAP10-11 Gene

InterPro:
Blocks:
  • Thionin
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP10-11 Gene

GenScript: Design optimal peptide antigens:
  • Keratin-associated protein 18.11 (KR10B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P60412

UniProtKB/Swiss-Prot:

KR10B_HUMAN :
  • Belongs to the KRTAP type 10 family.
Family:
  • Belongs to the KRTAP type 10 family.
genes like me logo Genes that share domains with KRTAP10-11: view

Function for KRTAP10-11 Gene

Molecular function for KRTAP10-11 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 KRTAP10-11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with KRTAP10-11: view

Phenotypes for KRTAP10-11 Gene

genes like me logo Genes that share phenotypes with KRTAP10-11: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP10-11

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRTAP10-11 Gene

Localization for KRTAP10-11 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 KRTAP10-11 gene
Compartment Confidence
cytosol 4
cytoskeleton 2
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for KRTAP10-11 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 KRTAP10-11: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP10-11 Gene

Pathways & Interactions for KRTAP10-11 Gene

PathCards logo

SuperPathways for KRTAP10-11 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP10-11: view

Pathways by source for KRTAP10-11 Gene

2 Reactome pathways for KRTAP10-11 Gene

Gene Ontology (GO) - Biological Process for KRTAP10-11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP10-11: view

No data available for SIGNOR curated interactions for KRTAP10-11 Gene

Drugs & Compounds for KRTAP10-11 Gene

No Compound Related Data Available

Transcripts for KRTAP10-11 Gene

mRNA/cDNA for KRTAP10-11 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP10-11

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP10-11 Gene

No ASD Table

Relevant External Links for KRTAP10-11 Gene

GeneLoc Exon Structure for
KRTAP10-11

Expression for KRTAP10-11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRTAP10-11 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP10-11 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x46.8) and Skin - Sun Exposed (Lower leg) (x5.5).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRTAP10-11

SOURCE GeneReport for Unigene cluster for KRTAP10-11 Gene:

Hs.58076

mRNA Expression by UniProt/SwissProt for KRTAP10-11 Gene:

P60412-KR10B_HUMAN
Tissue specificity: Restricted to a narrow region of the hair fiber cuticle, lying approximately 20 cell layers above the apex of the dermal papilla of the hair root; not detected in any other tissues.

Evidence on tissue expression from TISSUES for KRTAP10-11 Gene

  • Skin(4)
genes like me logo Genes that share expression patterns with KRTAP10-11: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTAP10-11 Gene

Orthologs for KRTAP10-11 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP10-11 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KRTAP10-11 30 31
  • 98.32 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Krtap10-10 31
  • 56 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia -- 31
  • 56 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia -- 31
  • 48 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 47 (a)
ManyToMany
-- 31
  • 29 (a)
ManyToMany
Species where no ortholog for KRTAP10-11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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 KRTAP10-11 Gene

ENSEMBL:
Gene Tree for KRTAP10-11 (if available)
TreeFam:
Gene Tree for KRTAP10-11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRTAP10-11: view image

Paralogs for KRTAP10-11 Gene

(16) SIMAP similar genes for KRTAP10-11 Gene using alignment to 1 proteins:

  • KR10B_HUMAN
genes like me logo Genes that share paralogs with KRTAP10-11: view

Variants for KRTAP10-11 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRTAP10-11 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
rs4818952 - p.Ser130Phe

Additional dbSNP identifiers (rs#s) for KRTAP10-11 Gene

Structural Variations from Database of Genomic Variants (DGV) for KRTAP10-11 Gene

Variant ID Type Subtype PubMed ID
esv2723675 CNV deletion 23290073
esv2760705 CNV gain 21179565
esv33817 CNV loss 17666407

Variation tolerance for KRTAP10-11 Gene

Residual Variation Intolerance Score: 94.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.39; 71.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRTAP10-11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP10-11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP10-11 Gene

Disorders for KRTAP10-11 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KRTAP10-11 Gene - From: DISEASES

Disorder Aliases PubMed IDs
three m syndrome 1
  • 3m1
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with KRTAP10-11: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KRTAP10-11 Gene

Publications for KRTAP10-11 Gene

  1. A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3. (PMID: 15028290) Shibuya K … Shimizu N (Genomics 2004) 3 4
  2. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4

Products for KRTAP10-11 Gene

Sources for KRTAP10-11 Gene