Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KRTAP4-1 Gene

Aliases for KRTAP4-1 Gene

  • Keratin Associated Protein 4-1 2 3 5
  • Ultrahigh Sulfur Keratin-Associated Protein 4.10 3 4
  • Keratin Associated Protein 4-10 2 3
  • Keratin-Associated Protein 4.1 3 4
  • KRTAP4-10 3 4
  • KRTAP4.10 3 4
  • KAP4.10 3 4
  • Keratin-Associated Protein 4-10 4
  • Keratin-Associated Protein 4.10 4
  • Keratin-Associated Protein 4-1 3
  • KRTAP4.1 4
  • KAP4.1 3

External Ids for KRTAP4-1 Gene

Previous HGNC Symbols for KRTAP4-1 Gene

  • KRTAP4-10

Previous GeneCards Identifiers for KRTAP4-1 Gene

  • GC17U990277
  • GC17M036594
  • GC17M039340
  • GC17M035115

Summaries for KRTAP4-1 Gene

Entrez Gene Summary for KRTAP4-1 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, Jul 2008]

GeneCards Summary for KRTAP4-1 Gene

KRTAP4-1 (Keratin Associated Protein 4-1) is a Protein Coding gene. Among its related pathways are Keratinization and Developmental Biology. An important paralog of this gene is KRTAP4-3.

UniProtKB/Swiss-Prot for KRTAP4-1 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 KRTAP4-1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP4-1 Gene

Genomics for KRTAP4-1 Gene

Regulatory Elements for KRTAP4-1 Gene

Enhancers for KRTAP4-1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H041182 0.6 ENCODE 0.7 +2.8 2824 0 FOSL1 GATA3 SMARCA4 FOXK2 TAL1 MLLT1 FOXJ2 DPF2 KRTAP4-1 KRTAP4-2
GH17H041183 0.6 ENCODE 0.7 +2.6 2639 0 FOSL1 GATA3 SMARCA4 FOXK2 TAL1 MLLT1 FOXJ2 DPF2 KRT38 KRTAP4-1 KRTAP4-2
GH17H041178 0.4 ENCODE 0.4 +6.7 6683 0 SCRT2 ZIC2 KRT38 KRTAP4-2 KRTAP4-1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KRTAP4-1 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRTAP4-1 Gene

Chromosome:
17
Start:
41,184,100 bp from pter
End:
41,185,342 bp from pter
Size:
1,243 bases
Orientation:
Minus strand

Genomic View for KRTAP4-1 Gene

Genes around KRTAP4-1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP4-1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP4-1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP4-1 Gene

Proteins for KRTAP4-1 Gene

  • Protein details for KRTAP4-1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYQ7-KRA41_HUMAN
    Recommended name:
    Keratin-associated protein 4-1
    Protein Accession:
    Q9BYQ7
    Secondary Accessions:
    • A8MWS7
    • Q3SYF2

    Protein attributes for KRTAP4-1 Gene

    Size:
    146 amino acids
    Molecular mass:
    15241 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP4-1 Gene

Post-translational modifications for KRTAP4-1 Gene

No Post-translational modifications

Other Protein References for KRTAP4-1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP4-1 Gene

Domains & Families for KRTAP4-1 Gene

Gene Families for KRTAP4-1 Gene

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

Protein Domains for KRTAP4-1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP4-1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BYQ7

UniProtKB/Swiss-Prot:

KRA41_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 KRTAP4-1: view

Function for KRTAP4-1 Gene

Molecular function for KRTAP4-1 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 for KRTAP4-1 Gene

genes like me logo Genes that share phenotypes with KRTAP4-1: view

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for KRTAP4-1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRTAP4-1 Gene

Localization for KRTAP4-1 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 KRTAP4-1 gene
Compartment Confidence
cytosol 5
extracellular 2
cytoskeleton 2
nucleus 1

Gene Ontology (GO) - Cellular Components for KRTAP4-1 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 KRTAP4-1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP4-1 Gene

Pathways & Interactions for KRTAP4-1 Gene

SuperPathways for KRTAP4-1 Gene

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

Pathways by source for KRTAP4-1 Gene

2 Reactome pathways for KRTAP4-1 Gene

Interacting Proteins for KRTAP4-1 Gene

Gene Ontology (GO) - Biological Process for KRTAP4-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP4-1: view

No data available for SIGNOR curated interactions for KRTAP4-1 Gene

Drugs & Compounds for KRTAP4-1 Gene

No Compound Related Data Available

Transcripts for KRTAP4-1 Gene

mRNA/cDNA for KRTAP4-1 Gene

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

Unigene Clusters for KRTAP4-1 Gene

Keratin associated protein 4-1:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for KRTAP4-1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP4-1 Gene

No ASD Table

Relevant External Links for KRTAP4-1 Gene

GeneLoc Exon Structure for
KRTAP4-1
ECgene alternative splicing isoforms for
KRTAP4-1

Expression for KRTAP4-1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRTAP4-1 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP4-1 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x48.6).

SOURCE GeneReport for Unigene cluster for KRTAP4-1 Gene:

Hs.437079

mRNA Expression by UniProt/SwissProt for KRTAP4-1 Gene:

Q9BYQ7-KRA41_HUMAN
Tissue specificity: Expressed in the hair follicles.

Evidence on tissue expression from TISSUES for KRTAP4-1 Gene

  • Skin(4)
genes like me logo Genes that share expression patterns with KRTAP4-1: view

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 KRTAP4-1 Gene

Orthologs for KRTAP4-1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP4-1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC101059400 33
  • 99.06 (n)
KRTAP4-1 34
  • 35 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KRTAP4-1 33
  • 83.86 (n)
mouse
(Mus musculus)
Mammalia Krtap4-16 34
  • 59 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KRTAP4-1 34
  • 55 (a)
OneToOne
Species where no ortholog for KRTAP4-1 was found in the sources mined by GeneCards:
  • 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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 KRTAP4-1 Gene

ENSEMBL:
Gene Tree for KRTAP4-1 (if available)
TreeFam:
Gene Tree for KRTAP4-1 (if available)

Paralogs for KRTAP4-1 Gene

Variants for KRTAP4-1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP4-1 Gene

KRA41_HUMAN-Q9BYQ7
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).

Sequence variations from dbSNP and Humsavar for KRTAP4-1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs2320231 --
rs35382039 --
rs398825 --

Structural Variations from Database of Genomic Variants (DGV) for KRTAP4-1 Gene

Variant ID Type Subtype PubMed ID
dgv412e201 CNV deletion 23290073
esv1330095 CNV deletion 17803354
esv2715921 CNV deletion 23290073
esv2715922 CNV deletion 23290073
esv2758690 CNV gain+loss 17122850
esv996733 CNV deletion 20482838
nsv111715 CNV deletion 16902084
nsv1121525 CNV deletion 24896259
nsv1146669 OTHER inversion 26484159
nsv1150642 CNV deletion 26484159
nsv833446 CNV gain 17160897

Variation tolerance for KRTAP4-1 Gene

Gene Damage Index Score: 3.24; 52.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRTAP4-1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP4-1

Disorders for KRTAP4-1 Gene

Relevant External Links for KRTAP4-1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP4-1

No disorders were found for KRTAP4-1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP4-1 Gene

Publications for KRTAP4-1 Gene

  1. 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) 2 3 4 60
  2. 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 60
  3. 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 60
  4. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 4 60
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 60

Products for KRTAP4-1 Gene

Sources for KRTAP4-1 Gene

Content
Loading form....