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Aliases for KRTAP17-1 Gene

Aliases for KRTAP17-1 Gene

  • Keratin Associated Protein 17-1 2 3
  • Keratin-Associated Protein 16.1 3 4
  • KRTAP16.1 3 4
  • KAP17.1 3 4
  • Keratin Associated Protein 16.1 3
  • Keratin-Associated Protein 17-1 3
  • KRTAP17.1 3

External Ids for KRTAP17-1 Gene

Previous GeneCards Identifiers for KRTAP17-1 Gene

  • GC17M039056
  • GC17M041575
  • GC17M039379
  • GC17M039844
  • GC17M036724
  • GC17M039472
  • GC17M035234
  • GC17M039473
  • GC17M039475
  • GC17M039477
  • GC17M039479
  • GC17M039481

Summaries for KRTAP17-1 Gene

Entrez Gene Summary for KRTAP17-1 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 KRTAP17-1 Gene

KRTAP17-1 (Keratin Associated Protein 17-1) is a Protein Coding gene. Diseases associated with KRTAP17-1 include pachyonychia congenita.

UniProtKB/Swiss-Prot for KRTAP17-1 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 KRTAP17-1 Gene

Genomics for KRTAP17-1 Gene

Regulatory Elements for KRTAP17-1 Gene

Genomic Location for KRTAP17-1 Gene

Start:
41,314,917 bp from pter
End:
41,315,695 bp from pter
Size:
779 bases
Orientation:
Minus strand

Genomic View for KRTAP17-1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KRTAP17-1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP17-1 Gene

Proteins for KRTAP17-1 Gene

  • Protein details for KRTAP17-1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYP8-KR171_HUMAN
    Recommended name:
    Keratin-associated protein 17-1
    Protein Accession:
    Q9BYP8
    Secondary Accessions:

    Protein attributes for KRTAP17-1 Gene

    Size:
    105 amino acids
    Molecular mass:
    9504 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP17-1 Gene

Proteomics data for KRTAP17-1 Gene at MOPED

Post-translational modifications for KRTAP17-1 Gene

No Post-translational modifications

Other Protein References for KRTAP17-1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP17-1 Gene

Domains for KRTAP17-1 Gene

Gene Families for KRTAP17-1 Gene

HGNC:
  • KRTAP :Keratin associated proteins

Protein Domains for KRTAP17-1 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP17-1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KRTAP17-1: view

No data available for UniProtKB/Swiss-Prot for KRTAP17-1 Gene

Function for KRTAP17-1 Gene

Molecular function for KRTAP17-1 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 KRTAP17-1 Gene

GenomeRNAi human phenotypes for KRTAP17-1:
genes like me logo Genes that share phenotypes with KRTAP17-1: view

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for KRTAP17-1 Gene

Localization for KRTAP17-1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRTAP17-1 Gene COMPARTMENTS Subcellular localization image for KRTAP17-1 gene
Compartment Confidence
cytoskeleton 3
extracellular 3
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for KRTAP17-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005882 intermediate filament IEA --
genes like me logo Genes that share ontologies with KRTAP17-1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRTAP17-1 Gene

Pathways for KRTAP17-1 Gene

SuperPathways for KRTAP17-1 Gene

No Data Available

Interacting Proteins for KRTAP17-1 Gene

Gene Ontology (GO) - Biological Process for KRTAP17-1 Gene

None

No data available for Pathways by source for KRTAP17-1 Gene

Transcripts for KRTAP17-1 Gene

mRNA/cDNA for KRTAP17-1 Gene

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

Unigene Clusters for KRTAP17-1 Gene

Keratin associated protein 17-1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP17-1 Gene

No ASD Table

Relevant External Links for KRTAP17-1 Gene

GeneLoc Exon Structure for
KRTAP17-1
ECgene alternative splicing isoforms for
KRTAP17-1

Expression for KRTAP17-1 Gene

mRNA expression in normal human tissues for KRTAP17-1 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP17-1 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (45.2) and Skin - Sun Exposed (Lower leg) (6.3).

SOURCE GeneReport for Unigene cluster for KRTAP17-1 Gene Hs.307009

genes like me logo Genes that share expressions with KRTAP17-1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein expression and mRNA Expression by UniProt/SwissProt for KRTAP17-1 Gene

Orthologs for KRTAP17-1 Gene

This gene was present in the common ancestor of human and mouse.

Orthologs for KRTAP17-1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRTAP17-1 36
  • 100 (a)
OneToOne
LOC742258 35
  • 99.37 (n)
  • 100 (a)
mouse
(Mus musculus)
Mammalia Krtap17-1 16
Species with no ortholog for KRTAP17-1:
  • 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)
  • cow (Bos Taurus)
  • 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)
  • 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 KRTAP17-1 Gene

ENSEMBL:
Gene Tree for KRTAP17-1 (if available)
TreeFam:
Gene Tree for KRTAP17-1 (if available)

Paralogs for KRTAP17-1 Gene

No data available for Paralogs for KRTAP17-1 Gene

Variants for KRTAP17-1 Gene

Sequence variations from dbSNP and Humsavar for KRTAP17-1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs9895235 -- 41,315,707(+) ACTGA(C/T)GGTGG upstream-variant-2KB
rs9900395 -- 41,316,305(+) CGAGA(A/C/G)AGACT upstream-variant-2KB
rs9901096 -- 41,316,590(+) GTAAC(A/G)CACTT upstream-variant-2KB
rs9903977 -- 41,316,770(+) CTTGG(A/G)CTTTG upstream-variant-2KB
rs12449671 -- 41,315,677(+) AGGTC(A/G)GTAAC utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for KRTAP17-1 Gene

Variant ID Type Subtype PubMed ID
dgv961e1 CNV Complex 17122850

Relevant External Links for KRTAP17-1 Gene

HapMap Linkage Disequilibrium report
KRTAP17-1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP17-1 Gene

Disorders for KRTAP17-1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for KRTAP17-1 Gene including...

Search for KRTAP17-1 Gene in MalaCards »

Relevant External Links for KRTAP17-1

Genetic Association Database (GAD)
KRTAP17-1
Human Genome Epidemiology (HuGE) Navigator
KRTAP17-1
genes like me logo Genes that share disorders with KRTAP17-1: view

No data available for UniProtKB/Swiss-Prot for KRTAP17-1 Gene

Publications for KRTAP17-1 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) 3 4
  2. 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
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48
  4. Recurrent mutation in keratin 17 in a large family with pachyonychia congenita type 2. (PMID: 18347808) Oh Adib C. … Leachman S. (Arch. Dermatol. Res. 2008) 3
  5. 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 KRTAP17-1 Gene

Sources for KRTAP17-1 Gene

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