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 s... See more...

Aliases for KRTAP4-11 Gene

Aliases for KRTAP4-11 Gene

  • Keratin Associated Protein 4-11 2 3 5
  • KAP4.14 2 3 4
  • Ultrahigh Sulfur Keratin-Associated Protein 4.14 3 4
  • Keratin-Associated Protein 4-11 3 4
  • Keratin-Associated Protein 4-14 3 4
  • Keratin-Associated Protein 4.11 3 4
  • Keratin-Associated Protein 4.14 3 4
  • KRTAP4-14 3 4
  • KRTAP4.14 3 4
  • KAP4.11 2 3
  • Keratin Associated Protein 4-14 2
  • KRTAP4-11 5
  • KRTAP4.11 4

External Ids for KRTAP4-11 Gene

Previous HGNC Symbols for KRTAP4-11 Gene

  • KRTAP4-14

Previous GeneCards Identifiers for KRTAP4-11 Gene

  • GC17U990270
  • GC17P8H0011
  • GC17M036530
  • GC17M039273

Summaries for KRTAP4-11 Gene

Entrez Gene Summary for KRTAP4-11 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 ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Mar 2009]

GeneCards Summary for KRTAP4-11 Gene

KRTAP4-11 (Keratin Associated Protein 4-11) is a Protein Coding gene. Diseases associated with KRTAP4-11 include Trochlear Nerve Disease and Vulvitis. Among its related pathways are Developmental Biology and Keratinization. An important paralog of this gene is KRTAP4-9.

UniProtKB/Swiss-Prot Summary for KRTAP4-11 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRTAP4-11 Gene

Genomics for KRTAP4-11 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KRTAP4-11 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
GH17J041120 Enhancer 0.6 Ensembl ENCODE 250.7 -0.1 -128 7 ZIC2 SPI1 MZF1 MNT KRTAP4-11 KRTAP4-6 KRTAP4-5 KRTAP4-4 KRTAP4-3 KRTAP1-5 KRT23 KRTAP4-12 HSALNG0116415-004 lnc-KRTAP9-7-5
GH17J041518 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 1.6 -406.9 -406881 13.6 MYC ZNF600 NCOR1 IKZF1 JUND ZNF580 ZNF592 ZMYM3 ZNF223 ZNF10 KRT19 KRT15 lnc-KRT15-1 ENSG00000267758 SMARCE1 KRT36 ENSG00000259623 KRT14 STAT5A GHDC
GH17J041087 Enhancer 0.2 Ensembl 10.3 +30.3 30272 1 HSALNG0116415-002 piR-58929-029 KRTAP4-6 KRTAP2-3 KRTAP2-4 KRTAP2-2 KRTAP2-1 KRTAP4-5 KRTAP4-11 KRTAP4-12
GH17J041108 Promoter 0.3 Ensembl 0.4 +8.8 8773 2.8 HSALNG0116415-004 piR-58929-030 KRTAP4-6 KRTAP4-9 KRTAP4-11 lnc-KRTAP9-7-5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRTAP4-11 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRTAP4-11

Top Transcription factor binding sites by QIAGEN in the KRTAP4-11 gene promoter:
  • Evi-1
  • GR
  • GR-alpha
  • GR-beta
  • HFH-1
  • HOXA5
  • Nkx2-5
  • SREBP-1c
  • TBP
  • TFIID

Genomic Locations for KRTAP4-11 Gene

Latest Assembly
chr17:41,117,181-41,118,373
(GRCh38/hg38)
Size:
1,193 bases
Orientation:
Minus strand

Previous Assembly
chr17:39,273,433-39,274,625
(GRCh37/hg19 by Entrez Gene)
Size:
1,193 bases
Orientation:
Minus strand

chr17:39,273,433-39,274,606
(GRCh37/hg19 by Ensembl)
Size:
1,174 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr17(ALT_REF_LOCI_1):266,931-268,123 (-)

Genomic View for KRTAP4-11 Gene

Genes around KRTAP4-11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP4-11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP4-11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP4-11 Gene

Proteins for KRTAP4-11 Gene

  • Protein details for KRTAP4-11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYQ6-KR411_HUMAN
    Recommended name:
    Keratin-associated protein 4-11
    Protein Accession:
    Q9BYQ6
    Secondary Accessions:
    • A0AUY2

    Protein attributes for KRTAP4-11 Gene

    Size:
    195 amino acids
    Molecular mass:
    20927 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP4-11 Gene

Post-translational modifications for KRTAP4-11 Gene

No Post-translational modifications

Other Protein References for KRTAP4-11 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP4-11 Gene

Domains & Families for KRTAP4-11 Gene

Gene Families for KRTAP4-11 Gene

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

Protein Domains for KRTAP4-11 Gene

InterPro:

Suggested Antigen Peptide Sequences for KRTAP4-11 Gene

GenScript: Design optimal peptide antigens:
  • Ultrahigh sulfur keratin-associated protein 4.14 (KR411_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BYQ6

UniProtKB/Swiss-Prot:

KR411_HUMAN :
  • Belongs to the KRTAP type 4 family.
Family:
  • Belongs to the KRTAP type 4 family.
genes like me logo Genes that share domains with KRTAP4-11: view

Function for KRTAP4-11 Gene

Molecular function for KRTAP4-11 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.

Phenotypes From GWAS Catalog for KRTAP4-11 Gene

Gene Ontology (GO) - Molecular Function for KRTAP4-11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with KRTAP4-11: view
genes like me logo Genes that share phenotypes with KRTAP4-11: view

miRNA for KRTAP4-11 Gene

miRTarBase miRNAs that target KRTAP4-11

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KRTAP4-11 Gene

Localization for KRTAP4-11 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 KRTAP4-11 gene
Compartment Confidence
cytosol 4
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for KRTAP4-11 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 KRTAP4-11: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP4-11 Gene

Pathways & Interactions for KRTAP4-11 Gene

PathCards logo

SuperPathways for KRTAP4-11 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP4-11: view

Pathways by source for KRTAP4-11 Gene

2 Reactome pathways for KRTAP4-11 Gene

Gene Ontology (GO) - Biological Process for KRTAP4-11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP4-11: view

No data available for SIGNOR curated interactions for KRTAP4-11 Gene

Drugs & Compounds for KRTAP4-11 Gene

No Compound Related Data Available

Transcripts for KRTAP4-11 Gene

mRNA/cDNA for KRTAP4-11 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP4-11 Gene

No ASD Table

Relevant External Links for KRTAP4-11 Gene

GeneLoc Exon Structure for
KRTAP4-11

Expression for KRTAP4-11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRTAP4-11 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP4-11 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x47.5) and Skin - Sun Exposed (Lower leg) (x5.3).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRTAP4-11

SOURCE GeneReport for Unigene cluster for KRTAP4-11 Gene:

Hs.307015

mRNA Expression by UniProt/SwissProt for KRTAP4-11 Gene:

Q9BYQ6-KR411_HUMAN
Tissue specificity: Expressed in the hair follicles.

Evidence on tissue expression from TISSUES for KRTAP4-11 Gene

  • Skin(4.1)
genes like me logo Genes that share expression patterns with KRTAP4-11: view

Primer products for research

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 KRTAP4-11 Gene

Orthologs for KRTAP4-11 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP4-11 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LOC100613382 29
  • 96.07 (n)
KRTAP4-11 30
  • 96 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Gm11563 30
  • 82 (a)
ManyToMany
Gm11555 30
  • 74 (a)
ManyToMany
Krtap4-2 30
  • 74 (a)
ManyToMany
Krtap4-1 30
  • 73 (a)
ManyToMany
Krtap4-7 30
  • 73 (a)
ManyToMany
Rat
(Rattus norvegicus)
Mammalia Krtap4-7 29
  • 78.11 (n)
Cow
(Bos Taurus)
Mammalia KRTAP4-7 30
  • 71 (a)
ManyToMany
-- 30
  • 71 (a)
ManyToMany
-- 30
  • 70 (a)
ManyToMany
-- 30
  • 70 (a)
ManyToMany
-- 30
  • 69 (a)
ManyToMany
-- 30
  • 69 (a)
ManyToMany
Species where no ortholog for KRTAP4-11 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)
  • 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)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • 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 KRTAP4-11 Gene

ENSEMBL:
Gene Tree for KRTAP4-11 (if available)
TreeFam:
Gene Tree for KRTAP4-11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRTAP4-11: view image
Alliance of Genome Resources:
Additional Orthologs for KRTAP4-11

Paralogs for KRTAP4-11 Gene

(13) SIMAP similar genes for KRTAP4-11 Gene using alignment to 1 proteins:

  • KR411_HUMAN
genes like me logo Genes that share paralogs with KRTAP4-11: view

Variants for KRTAP4-11 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP4-11 Gene

KR411_HUMAN-Q9BYQ6
Numerous size polymorphism are present in KRTAP4 gene family, which are mainly due to variations in the sequence encoding cysteine-rich repeat segments (PubMed:15955084).

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KRTAP4-11 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 KRTAP4-11 Gene

Variant ID Type Subtype PubMed ID
esv1007843 CNV deletion 20482838
esv26633 CNV loss 19812545
esv3640559 CNV gain 21293372
esv3640577 CNV loss 21293372
esv3640578 CNV loss 21293372
esv3640579 CNV loss 21293372
esv993415 CNV loss 20482838
nsv112423 CNV deletion 16902084
nsv1129330 OTHER inversion 24896259
nsv1146669 OTHER inversion 26484159
nsv442418 CNV loss 18776908
nsv833446 CNV gain 17160897
nsv9550 CNV loss 18304495

Variation tolerance for KRTAP4-11 Gene

Residual Variation Intolerance Score: 96% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.58; 96.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRTAP4-11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP4-11
Leiden Open Variation Database (LOVD)
KRTAP4-11

SNP Genotyping and Copy Number Assays for research

No data available for Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRTAP4-11 Gene

Disorders for KRTAP4-11 Gene

MalaCards: The human disease database

(2) MalaCards diseases for KRTAP4-11 Gene - From: COP

Disorder Aliases PubMed IDs
trochlear nerve disease
  • disorder of trochlear nerve
vulvitis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KRTAP4-11

genes like me logo Genes that share disorders with KRTAP4-11: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KRTAP4-11 Gene

Publications for KRTAP4-11 Gene

  1. Size polymorphisms in the human ultrahigh sulfur hair keratin-associated protein 4, KAP4, gene family. (PMID: 15955084) Kariya N … Ito M (The Journal of investigative dermatology 2005) 3 4
  2. 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) 3 4
  3. 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 MA … Schweizer J (The Journal of biological chemistry 2001) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Pooled-matrix protein interaction screens using Barcode Fusion Genetics. (PMID: 27107012) Yachie N … Roth FP (Molecular systems biology 2016) 3

Products for KRTAP4-11 Gene

Sources for KRTAP4-11 Gene