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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
  • 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. An important paralog of this gene is KRTAP4-9.

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.

No data available for 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

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

Proteomics data for KRTAP4-1 Gene at MOPED

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

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

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for KRTAP4-1 Gene COMPARTMENTS Subcellular localization image for KRTAP4-1 gene
Compartment Confidence
cytoskeleton 2
extracellular 2
cytosol 1
nucleus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for KRTAP4-1 Gene

Pathways & Interactions for KRTAP4-1 Gene

SuperPathways for KRTAP4-1 Gene

No Data Available

Interacting Proteins for KRTAP4-1 Gene

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

None

No data available for Pathways by source and 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:

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 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.
genes like me logo Genes that share expression patterns with KRTAP4-1: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia KRTAP4-1 35
  • 83.86 (n)
  • 81.75 (a)
chimpanzee
(Pan troglodytes)
Mammalia LOC101059400 35
  • 99.06 (n)
  • 99.06 (a)
KRTAP4-1 36
  • 35 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KRTAP4-1 36
  • 55 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Krtap4-16 36
  • 59 (a)
OneToOne
Species with no ortholog for KRTAP4-1:
  • 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

Pseudogenes.org Pseudogenes for KRTAP4-1 Gene

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

Variants for KRTAP4-1 Gene

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

Q9BYQ7-KRA41_HUMAN
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
VAR_047044 -
VAR_047045 -
VAR_047046 -

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

Variant ID Type Subtype PubMed ID
nsv908232 CNV Loss 21882294
nsv833446 CNV Gain 17160897
dgv961e1 CNV Complex 17122850
esv2715921 CNV Deletion 23290073
dgv453e201 CNV Deletion 23290073
nsv111715 CNV Loss 16902084
esv2715922 CNV Deletion 23290073
esv996733 CNV Deletion 20482838
esv1330095 CNV Deletion 17803354

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

HapMap Linkage Disequilibrium report
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 M.A. … Schweizer J. (J. Biol. Chem. 2001) 2 3 4 67
  2. Size polymorphisms in the human ultrahigh sulfur hair keratin- associated protein 4, KAP4, gene family. (PMID: 15955084) Kariya N. … Ito M. (J. Invest. Dermatol. 2005) 3
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for KRTAP4-1 Gene

Sources for KRTAP4-1 Gene

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