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Aliases for KRTAP17-1 Gene

Aliases for KRTAP17-1 Gene

  • Keratin Associated Protein 17-1 2 3 5
  • KRTAP16.1 3 4
  • KAP17.1 3 4
  • Keratin Associated Protein 16.1 3
  • Keratin-Associated Protein 17-1 3
  • Keratin-Associated Protein 16.1 4
  • 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. Among its related pathways are Keratinization and Developmental Biology.

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.

Additional gene information for KRTAP17-1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP17-1 Gene

Genomics for KRTAP17-1 Gene

GeneHancer (GH) Regulatory Elements for KRTAP17-1 Gene

Promoters and enhancers for KRTAP17-1 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
GH17I041315 Promoter 0.7 EPDnew 550.8 0.0 -35 0.1 ZBTB11 ZIC2 KRTAP17-1 KRT36 TBC1D3P7
GH17I041338 Enhancer 1 Ensembl ENCODE dbSUPER 10.2 -25.3 -25316 6 PKNOX1 YBX1 EBF1 RELA GATA3 NBN ZNF24 EZH2 KRT38 KRTAP16-1 KRTAP29-1 KRT31 LOC100505782 KRTAP17-1 KRTAP9-6 KRT37 ENSG00000234477 RNU2-32P
GH17I041336 Enhancer 0.3 ENCODE 10.3 -20.5 -20549 0.2 NRF1 ENSG00000108516 KRTAP29-1 KRTAP16-1 KRTAP17-1 KRTAP9-6 KRT31 KRT37 LOC100505782 ENSG00000234477 KRT32
GH17I041322 Enhancer 0.6 ENCODE 0.4 -7.0 -6963 0.8 CTCF ZNF654 HLF TRIM22 CEBPB REST ZNF623 RAD21 ZNF121 GATA3 TBC1D3P7 KRT38 KRTAP17-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KRTAP17-1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KRTAP17-1 gene promoter:

Genomic Locations for KRTAP17-1 Gene

Genomic Locations for KRTAP17-1 Gene
chr17:41,314,917-41,315,695
(GRCh38/hg38)
Size:
779 bases
Orientation:
Minus strand
chr17:39,471,169-39,471,947
(GRCh37/hg19)

Genomic View for KRTAP17-1 Gene

Genes around KRTAP17-1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP17-1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for 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

    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

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 & Families for KRTAP17-1 Gene

Gene Families for KRTAP17-1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular 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.
genes like me logo Genes that share phenotypes with KRTAP17-1: view

Clone Products

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 KRTAP17-1 Gene

Localization for KRTAP17-1 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 KRTAP17-1 gene
Compartment Confidence
cytosol 5
extracellular 3
cytoskeleton 3
nucleus 1

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
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 and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP17-1 Gene

Pathways & Interactions for KRTAP17-1 Gene

SuperPathways for KRTAP17-1 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP17-1: view

Pathways by source for KRTAP17-1 Gene

2 Reactome pathways for KRTAP17-1 Gene

Interacting Proteins for KRTAP17-1 Gene

Selected Interacting proteins: Q9BYP8-KR171_HUMAN for KRTAP17-1 Gene via UniProtKB

Symbol External ID(s) Details
ZNF101

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP17-1: view

No data available for SIGNOR curated interactions for KRTAP17-1 Gene

Drugs & Compounds for KRTAP17-1 Gene

No Compound Related Data Available

Transcripts for KRTAP17-1 Gene

mRNA/cDNA for KRTAP17-1 Gene

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

Unigene Clusters for KRTAP17-1 Gene

Keratin associated protein 17-1:
Representative Sequences:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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) (x45.2) and Skin - Sun Exposed (Lower leg) (x6.3).

SOURCE GeneReport for Unigene cluster for KRTAP17-1 Gene:

Hs.307009

Evidence on tissue expression from TISSUES for KRTAP17-1 Gene

  • Skin(4)
genes like me logo Genes that share expression patterns with KRTAP17-1: 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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTAP17-1 Gene

Orthologs for KRTAP17-1 Gene

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

Orthologs for KRTAP17-1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRTAP17-1 34
  • 100 (a)
OneToOne
LOC742258 33
  • 99.37 (n)
Species where no ortholog for KRTAP17-1 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)
  • 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)
  • mouse (Mus musculus)
  • 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 Variation AA Info Type
rs1000567803 -- 41,314,905(-) G/A downstream_transcript_variant
rs1002101991 -- 41,315,807(-) C/A/T upstream_transcript_variant
rs1002503848 -- 41,315,118(-) T/C 3_prime_UTR_variant
rs1002571540 -- 41,317,644(-) C/T upstream_transcript_variant
rs1002642884 -- 41,316,136(-) G/T upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv2758690 CNV gain+loss 17122850
nsv1055426 CNV gain 25217958
nsv1146669 OTHER inversion 26484159

Variation tolerance for KRTAP17-1 Gene

Residual Variation Intolerance Score: 67.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.31; 90.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRTAP17-1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP17-1

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

Disorders for KRTAP17-1 Gene

Additional Disease Information for KRTAP17-1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for KRTAP17-1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP17-1 Gene

Publications for KRTAP17-1 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  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 58
  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 58
  4. Recurrent mutation in keratin 17 in a large family with pachyonychia congenita type 2. (PMID: 18347808) Oh Adib C … Leachman S (Archives of dermatological research 2008) 3 58
  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 58

Products for KRTAP17-1 Gene

Sources for KRTAP17-1 Gene

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