KRTAP11-1 Gene (Protein Coding)

Keratin Associated Protein 11-1

GC21M030880
GIFtS:
33
See more...

Aliases for KRTAP11-1 Gene

Aliases for KRTAP11-1 Gene

  • Keratin Associated Protein 11-1 2 3 5
  • KAP11.1 2 3 4
  • High Sulfur Keratin-Associated Protein 11.1 3 4
  • Keratin-Associated Protein 11-1 3 4
  • KRTAP11-1 5
  • 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 Anthracosis. Among its related pathways are Developmental Biology and Keratinization. Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is KRTAP13-1.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for KRTAP11-1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRTAP11-1 Gene

Genomics for KRTAP11-1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for KRTAP11-1 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
GH21J030903 Enhancer 0.3 Ensembl 0.3 -22.8 -22821 1.2 CEBPB HSALNG0132608 piR-32214-424 KRTAP11-1 KRTAP19-8 lnc-KRTAP19-8-2
GH21J030893 Enhancer 0.2 FANTOM5 0.4 -12.1 -12073 0.1 KRTAP21-3 KRTAP19-4 KRTAP6-3 KRTAP13-4 KRTAP15-1 HSALNG0132608 KRTAP11-1 KRTAP19-8 lnc-KRTAP19-8-2
GH21J030979 Enhancer 0.3 Ensembl 0.2 -97.7 -97721 0.2 ATF2 ATF7 piR-32214-425 lnc-KRTAP20-3-1 KRTAP19-8 KRTAP11-1 lnc-KRTAP19-8-2
GH21J030995 Enhancer 0.4 FANTOM5 Ensembl 0.1 -114.0 -114046 0.4 KRTAP21-3 LOC105372776 lnc-KRTAP20-3-1 piR-32214-425 KRTAP19-8 lnc-KRTAP19-8-2 KRTAP11-1
GH21J030996 Enhancer 0.2 Ensembl 0.1 -113.6 -113621 0.4 LOC105372776 lnc-KRTAP20-3-1 piR-32214-425 KRTAP19-8 lnc-KRTAP19-8-2 KRTAP11-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRTAP11-1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRTAP11-1

Top Transcription factor binding sites by QIAGEN in the KRTAP11-1 gene promoter:
  • AP-1
  • c-Fos
  • Evi-1
  • HTF
  • LCR-F1
  • Lmo2
  • Nkx3-1
  • Nkx3-1 v1
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for KRTAP11-1 Gene

Latest Assembly
chr21:30,880,644-30,881,580
(GRCh38/hg38)
Size:
937 bases
Orientation:
Minus strand

Previous Assembly
chr21:32,252,963-32,253,899
(GRCh37/hg19 by Entrez Gene)
Size:
937 bases
Orientation:
Minus strand

chr21:32,252,966-32,253,874
(GRCh37/hg19 by Ensembl)
Size:
909 bases
Orientation:
Minus strand

Genomic View for KRTAP11-1 Gene

Genes around KRTAP11-1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP11-1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP11-1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KRTAP11-1 Gene

Proteins for KRTAP11-1 Gene

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  1. Antibodies for research
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  • 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

Protein Expression for KRTAP11-1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for KRTAP11-1 Gene

No Post-translational modifications

Other Protein References for KRTAP11-1 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Domains & Families for KRTAP11-1 Gene

Gene Families for KRTAP11-1 Gene

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

Protein Domains for KRTAP11-1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP11-1 Gene

GenScript: Design optimal peptide antigens:
  • High sulfur keratin-associated protein 11.1 (KR111_HUMAN)
  • Keratin associated protein (Q3LI55_HUMAN)

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

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
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  6. Cell Lines for research

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.

Phenotypes From GWAS Catalog for KRTAP11-1 Gene

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
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 Models for research

miRNA for KRTAP11-1 Gene

miRTarBase miRNAs that target KRTAP11-1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP11-1

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

Localization for KRTAP11-1 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 KRTAP11-1 gene
Compartment Confidence
cytosol 4
cytoskeleton 3
extracellular 1
mitochondrion 1
peroxisome 0
nucleus 0

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
genes like me logo Genes that share ontologies with KRTAP11-1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP11-1 Gene

Pathways & Interactions for KRTAP11-1 Gene

PathCards logo

SuperPathways for KRTAP11-1 Gene

SuperPathway Contained pathways
1 Developmental Biology
Developmental Biology
.51
2 Keratinization
Keratinization
.33
genes like me logo Genes that share pathways with KRTAP11-1: view

Pathways by source for KRTAP11-1 Gene

2 Reactome pathways for KRTAP11-1 Gene

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP11-1: view

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

Drugs & Compounds for KRTAP11-1 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for KRTAP11-1 Gene

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mRNA/cDNA for KRTAP11-1 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP11-1

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

Expression for KRTAP11-1 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRTAP11-1 Gene

mRNA expression in normal human tissues for KRTAP11-1 Gene
mRNA expression by GTEx 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 and MOPED for KRTAP11-1 Gene



Protein tissue co-expression partners for KRTAP11-1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRTAP11-1

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.

Evidence on tissue expression from TISSUES for KRTAP11-1 Gene

  • Skin(4.2)
genes like me logo Genes that share expression patterns with KRTAP11-1: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTAP11-1 Gene

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
Chimpanzee
(Pan troglodytes)
 Mammalia KRTAP11-1 30 31
  • 98.77 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia KRTAP11-1 30 31
  • 85.19 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia KRTAP11-1 30 31
  • 83.44 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Krtap11-1 30 17 31
  • 82.82 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Krtap11-1 30
  • 82.41 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia KRTAP11-1 31
  • 61 (a)
 OneToOne
Species where no ortholog for KRTAP11-1 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)
  • 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 KRTAP11-1 Gene

ENSEMBL:
Gene Tree for KRTAP11-1 (if available)
TreeFam:
Gene Tree for KRTAP11-1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRTAP11-1: view image

Paralogs for KRTAP11-1 Gene

Paralogs for KRTAP11-1 Gene

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

Variants for KRTAP11-1 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRTAP11-1 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
rs9636845 - p.Cys111Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KRTAP11-1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv4424n100 CNV gain 25217958
esv3646842 CNV loss 21293372
nsv1057467 CNV gain 25217958
nsv518454 CNV loss 19592680
nsv834077 CNV gain 17160897
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)

Additional Variant Information for KRTAP11-1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP11-1

SNP Genotyping and Copy Number Assays for research

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

Disorders for KRTAP11-1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KRTAP11-1 Gene - From: COP

Disorder Aliases PubMed IDs
anthracosis
  • black lung
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KRTAP11-1

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 MA … Schweizer J (The Journal of biological chemistry 2002) 2 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. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. (PMID: 32814053) Haenig C … Wanker EE (Cell reports 2020) 3
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. DCAF8, a novel MuRF1 interaction partner, promotes muscle atrophy. (PMID: 31391242) Nowak M … Sommer T (Journal of cell science 2019) 3

ExternalLinks

View latest publications for KRTAP11-1 gene in Mastermind

Products for KRTAP11-1 Gene

Sources for KRTAP11-1 Gene