The main structural proteins of mammalian hair fiber are the hair keratins (see MIM 601077) and the keratin-associated proteins (KAPs), which form a rigid and resistant hair shaft through extensive disulfide bond crosslinking with the abundant cysteines of hair keratins (Shimomura et al., 2002 [PubMed 12228244]).[supplied by OMIM, Jan 2009] See more...

Aliases for KRTAP1-4 Gene

Aliases for KRTAP1-4 Gene

  • Keratin Associated Protein 1-4 2 3 5
  • KAP1.4 2 3 4
  • High Sulfur Keratin-Associated Protein 1.4 3 4
  • Keratin-Associated Protein 1-4 3 4
  • Keratin-Associated Protein 1.4 3 4
  • KRTAP1.4 3 4
  • KRTAP1-4 5

External Ids for KRTAP1-4 Gene

Previous GeneCards Identifiers for KRTAP1-4 Gene

  • GC17U990281
  • GC17M036447
  • GC17M039187

Summaries for KRTAP1-4 Gene

Entrez Gene Summary for KRTAP1-4 Gene

  • The main structural proteins of mammalian hair fiber are the hair keratins (see MIM 601077) and the keratin-associated proteins (KAPs), which form a rigid and resistant hair shaft through extensive disulfide bond crosslinking with the abundant cysteines of hair keratins (Shimomura et al., 2002 [PubMed 12228244]).[supplied by OMIM, Jan 2009]

GeneCards Summary for KRTAP1-4 Gene

KRTAP1-4 (Keratin Associated Protein 1-4) is a Protein Coding gene. Diseases associated with KRTAP1-4 include Three M Syndrome 1. Among its related pathways are Developmental Biology and Keratinization. An important paralog of this gene is KRTAP1-3.

UniProtKB/Swiss-Prot Summary for KRTAP1-4 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 KRTAP1-4 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRTAP1-4 Gene

Genomics for KRTAP1-4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KRTAP1-4 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 KRTAP1-4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRTAP1-4

Top Transcription factor binding sites by QIAGEN in the KRTAP1-4 gene promoter:
  • AML1a
  • c-Myb
  • E47
  • HEN1
  • NRSF form 1
  • NRSF form 2
  • Pax-6
  • POU2F1
  • POU2F1a

Genomic Locations for KRTAP1-4 Gene

Genomic Locations for KRTAP1-4 Gene
chr17:41,029,677-41,030,125
(GRCh38/hg38)
Size:
449 bases
Orientation:
Minus strand
chr17:39,185,949-39,186,356
(GRCh37/hg19)
Size:
408 bases
Orientation:
Minus strand

Genomic View for KRTAP1-4 Gene

Genes around KRTAP1-4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP1-4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP1-4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP1-4 Gene

Proteins for KRTAP1-4 Gene

  • Protein details for KRTAP1-4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0C5Y4-KRA14_HUMAN
    Recommended name:
    Keratin-associated protein 1-4
    Protein Accession:
    P0C5Y4
    Secondary Accessions:
    • A6NJ92

    Protein attributes for KRTAP1-4 Gene

    Size:
    121 amino acids
    Molecular mass:
    12324 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP1-4 Gene

Post-translational modifications for KRTAP1-4 Gene

No Post-translational modifications

Other Protein References for KRTAP1-4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP1-4 Gene

Domains & Families for KRTAP1-4 Gene

Gene Families for KRTAP1-4 Gene

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

Protein Domains for KRTAP1-4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP1-4 Gene

GenScript: Design optimal peptide antigens:
  • Keratin-associated protein 1.4 (KRA14_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P0C5Y4

UniProtKB/Swiss-Prot:

KRA14_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 KRTAP1-4: view

Function for KRTAP1-4 Gene

Molecular function for KRTAP1-4 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 KRTAP1-4 Gene

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP1-4

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRTAP1-4 Gene

Localization for KRTAP1-4 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 KRTAP1-4 gene
Compartment Confidence
cytosol 4
extracellular 2
cytoskeleton 2
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KRTAP1-4 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 KRTAP1-4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP1-4 Gene

Pathways & Interactions for KRTAP1-4 Gene

PathCards logo

SuperPathways for KRTAP1-4 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP1-4: view

Pathways by source for KRTAP1-4 Gene

2 Reactome pathways for KRTAP1-4 Gene

Interacting Proteins for KRTAP1-4 Gene

Gene Ontology (GO) - Biological Process for KRTAP1-4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP1-4: view

No data available for SIGNOR curated interactions for KRTAP1-4 Gene

Drugs & Compounds for KRTAP1-4 Gene

No Compound Related Data Available

Transcripts for KRTAP1-4 Gene

mRNA/cDNA for KRTAP1-4 Gene

1 REFSEQ mRNAs :
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 KRTAP1-4

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP1-4 Gene

No ASD Table

Relevant External Links for KRTAP1-4 Gene

GeneLoc Exon Structure for
KRTAP1-4

Expression for KRTAP1-4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRTAP1-4 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP1-4 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x46.6) and Skin - Sun Exposed (Lower leg) (x5.1).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRTAP1-4

SOURCE GeneReport for Unigene cluster for KRTAP1-4 Gene:

Hs.744827

mRNA Expression by UniProt/SwissProt for KRTAP1-4 Gene:

P0C5Y4-KRA14_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 KRTAP1-4: 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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTAP1-4 Gene

Orthologs for KRTAP1-4 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP1-4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KRTAP1-4 30
  • 98.9 (n)
Mouse
(Mus musculus)
Mammalia Krtap1-5 31
  • 74 (a)
ManyToMany
Krtap9-3 31
  • 65 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia -- 31
  • 58 (a)
ManyToMany
KRTAP1-1 31
  • 56 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 35 (a)
OneToMany
Species where no ortholog for KRTAP1-4 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)
  • 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 KRTAP1-4 Gene

ENSEMBL:
Gene Tree for KRTAP1-4 (if available)
TreeFam:
Gene Tree for KRTAP1-4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRTAP1-4: view image

Paralogs for KRTAP1-4 Gene

Variants for KRTAP1-4 Gene

Additional dbSNP identifiers (rs#s) for KRTAP1-4 Gene

Structural Variations from Database of Genomic Variants (DGV) for KRTAP1-4 Gene

Variant ID Type Subtype PubMed ID
esv3640559 CNV gain 21293372
esv3640560 CNV gain 21293372
nsv1146669 OTHER inversion 26484159
nsv575002 CNV loss 21841781
nsv575005 CNV loss 21841781
nsv9550 CNV loss 18304495

Variation tolerance for KRTAP1-4 Gene

Residual Variation Intolerance Score: 83.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.52; 77.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRTAP1-4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP1-4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRTAP1-4 Gene

Disorders for KRTAP1-4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KRTAP1-4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
three m syndrome 1
  • 3m1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KRTAP1-4

genes like me logo Genes that share disorders with KRTAP1-4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KRTAP1-4 Gene

Publications for KRTAP1-4 Gene

  1. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 3 4
  2. 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
  3. Polymorphisms in the human high sulfur hair keratin-associated protein 1, KAP1, gene family. (PMID: 12228244) Shimomura Y … Ito M (The Journal of biological chemistry 2002) 3

Products for KRTAP1-4 Gene

Sources for KRTAP1-4 Gene