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Aliases for KRTAP5-9 Gene

Aliases for KRTAP5-9 Gene

  • Keratin Associated Protein 5-9 2 3 5
  • Ultrahigh Sulfur Keratin-Associated Protein 5.9 3 4
  • Keratin, Ultra High-Sulfur Matrix Protein A 3 4
  • Keratin, Cuticle, Ultrahigh Sulfur 1 3 4
  • Keratin-Associated Protein 5.9 3 4
  • UHS Keratin A 3 4
  • KRTAP5.9 3 4
  • UHS KerA 3 4
  • KRN1 3 4
  • Keratin, Cuticle, Ultrahigh Sulphur 1 3
  • Keratin-Associated Protein 5-9 3
  • KRTAP5-1 3
  • KAP5.9 4
  • UHSK1 4

External Ids for KRTAP5-9 Gene

Previous HGNC Symbols for KRTAP5-9 Gene

  • KRN1

Previous GeneCards Identifiers for KRTAP5-9 Gene

  • GC00U913946
  • GC11P070938
  • GC11P071259

Summaries for KRTAP5-9 Gene

GeneCards Summary for KRTAP5-9 Gene

KRTAP5-9 (Keratin Associated Protein 5-9) is a Protein Coding gene. Among its related pathways are Keratinization and Developmental Biology.

UniProtKB/Swiss-Prot for KRTAP5-9 Gene

  • In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (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 KRTAP5-9 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP5-9 Gene

Genomics for KRTAP5-9 Gene

GeneHancer (GH) Regulatory Elements for KRTAP5-9 Gene

Promoters and enhancers for KRTAP5-9 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
GH11I071534 Enhancer 0.9 ENCODE 10.8 -13.2 -13219 2 FOXA2 MLX ARID4B DMAP1 ZNF48 TCF12 RXRA SP5 PPARG ZNF592 KRTAP5-9 KRTAP5-8 KRTAP5-7
GH11I071479 Enhancer 0.8 ENCODE 10.5 -67.2 -67210 3.1 PKNOX1 CLOCK NFIB NEUROD1 SIN3A NFXL1 ZBTB7B ZBTB40 ELK1 SCRT2 NADSYN1 ENSG00000254682 NUMA1 LOC100128494 ZNF705E DHCR7 IL18BP FAM86C1 KRTAP5-9 MIR6754
GH11I071500 Enhancer 0.7 ENCODE 11.4 -47.6 -47628 0.2 NCOA3 PKNOX1 ZNF687 RXRA NFIB MAX GATAD2B RAD21 NR2F2 ZKSCAN1 KRTAP5-9 DHCR7 NADSYN1 ENSG00000254682 GC11M071490 GC11M071508
GH11I071487 Enhancer 0.7 ENCODE 11.2 -59.6 -59575 2.4 HDGF PKNOX1 BATF RELA FOSL1 GATA3 CTBP1 SCRT2 RCOR1 FOSL2 ENSG00000254682 NADSYN1 DHCR7 KRTAP5-9 KRTAP5-8 GC11M071490 MIR6754
GH11I071504 Enhancer 0.6 ENCODE 11.6 -43.0 -42999 2.6 SMARCE1 GTF2F1 PKNOX1 ZNF687 NFIB DPF2 MNT FOXA1 ZNF217 CTBP1 GC11M071508 NADSYN1 ENSG00000254682 KRTAP5-9 DHCR7 GC11M071490 S100A11P3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KRTAP5-9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KRTAP5-9 gene promoter:

Genomic Locations for KRTAP5-9 Gene

Genomic Locations for KRTAP5-9 Gene
chr11:71,548,418-71,549,607
(GRCh38/hg38)
Size:
1,190 bases
Orientation:
Plus strand
chr11:71,259,466-71,260,653
(GRCh37/hg19)

Genomic View for KRTAP5-9 Gene

Genes around KRTAP5-9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP5-9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP5-9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP5-9 Gene

Proteins for KRTAP5-9 Gene

  • Protein details for KRTAP5-9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P26371-KRA59_HUMAN
    Recommended name:
    Keratin-associated protein 5-9
    Protein Accession:
    P26371
    Secondary Accessions:
    • Q14564
    • Q3MIP8

    Protein attributes for KRTAP5-9 Gene

    Size:
    169 amino acids
    Molecular mass:
    16276 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP5-9 Gene

Post-translational modifications for KRTAP5-9 Gene

No Post-translational modifications

Other Protein References for KRTAP5-9 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP5-9 Gene

Domains & Families for KRTAP5-9 Gene

Gene Families for KRTAP5-9 Gene

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

Protein Domains for KRTAP5-9 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP5-9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P26371

UniProtKB/Swiss-Prot:

KRA59_HUMAN :
  • Belongs to the KRTAP type 5 family.
Family:
  • Belongs to the KRTAP type 5 family.
genes like me logo Genes that share domains with KRTAP5-9: view

Function for KRTAP5-9 Gene

Molecular function for KRTAP5-9 Gene

UniProtKB/Swiss-Prot Function:
In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (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.

Gene Ontology (GO) - Molecular Function for KRTAP5-9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21516116
genes like me logo Genes that share ontologies with KRTAP5-9: view
genes like me logo Genes that share phenotypes with KRTAP5-9: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KRTAP5-9 Gene

Localization for KRTAP5-9 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 KRTAP5-9 gene
Compartment Confidence
cytosol 4
cytoskeleton 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KRTAP5-9 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 KRTAP5-9: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP5-9 Gene

Pathways & Interactions for KRTAP5-9 Gene

SuperPathways for KRTAP5-9 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP5-9: view

Pathways by source for KRTAP5-9 Gene

2 Reactome pathways for KRTAP5-9 Gene

Gene Ontology (GO) - Biological Process for KRTAP5-9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008544 epidermis development TAS 1703541
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP5-9: view

No data available for SIGNOR curated interactions for KRTAP5-9 Gene

Drugs & Compounds for KRTAP5-9 Gene

No Compound Related Data Available

Transcripts for KRTAP5-9 Gene

mRNA/cDNA for KRTAP5-9 Gene

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

Unigene Clusters for KRTAP5-9 Gene

Keratin associated protein 5-9:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP5-9 Gene

No ASD Table

Relevant External Links for KRTAP5-9 Gene

GeneLoc Exon Structure for
KRTAP5-9
ECgene alternative splicing isoforms for
KRTAP5-9

Expression for KRTAP5-9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRTAP5-9 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP5-9 Gene

This gene is overexpressed in Testis (x5.3).

SOURCE GeneReport for Unigene cluster for KRTAP5-9 Gene:

Hs.709220

mRNA Expression by UniProt/SwissProt for KRTAP5-9 Gene:

P26371-KRA59_HUMAN
Tissue specificity: Restricted to hair root, not detected in any other tissues. Expressed in cuticle layers of differentiating hair follicles.

Evidence on tissue expression from TISSUES for KRTAP5-9 Gene

  • Skin(4)
  • Nervous system(4)
genes like me logo Genes that share expression patterns with KRTAP5-9: 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 KRTAP5-9 Gene

Orthologs for KRTAP5-9 Gene

Evolution for KRTAP5-9 Gene

ENSEMBL:
Gene Tree for KRTAP5-9 (if available)
TreeFam:
Gene Tree for KRTAP5-9 (if available)

No data available for Orthologs for KRTAP5-9 Gene

Paralogs for KRTAP5-9 Gene

No data available for Paralogs for KRTAP5-9 Gene

Variants for KRTAP5-9 Gene

Sequence variations from dbSNP and Humsavar for KRTAP5-9 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000214436 -- 71,549,771(+) A/G downstream_transcript_variant
rs1000456212 -- 71,547,944(+) G/C/T upstream_transcript_variant
rs1002175420 -- 71,546,670(+) C/T upstream_transcript_variant
rs1002716187 -- 71,546,901(+) C/A upstream_transcript_variant
rs1004152183 -- 71,547,208(+) G/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for KRTAP5-9 Gene

Variant ID Type Subtype PubMed ID
esv2744750 CNV deletion 23290073
esv3626781 CNV gain 21293372
esv3626782 CNV gain 21293372
nsv555402 CNV gain 21841781

Variation tolerance for KRTAP5-9 Gene

Residual Variation Intolerance Score: 93.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.78; 86.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRTAP5-9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP5-9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP5-9 Gene

Disorders for KRTAP5-9 Gene

Additional Disease Information for KRTAP5-9

No disorders were found for KRTAP5-9 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP5-9 Gene

Publications for KRTAP5-9 Gene

  1. Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11. (PMID: 15144888) Yahagi S … Shimizu N (Biochemical and biophysical research communications 2004) 2 3 4 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. Genomic organization and promoter characterization of two human UHS keratin genes. (PMID: 10023043) Perez C … Egly JM (Gene 1999) 3 4 58
  4. Structure and expression of genes for a class of cysteine-rich proteins of the cuticle layers of differentiating wool and hair follicles. (PMID: 1703541) MacKinnon PJ … Rogers GE (The Journal of cell biology 1990) 3 4 58
  5. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X … Vidal M (Cell 2016) 3 58

Products for KRTAP5-9 Gene

Sources for KRTAP5-9 Gene

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