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Aliases for KRTAP5-1 Gene

Aliases for KRTAP5-1 Gene

  • Keratin Associated Protein 5-1 2 3
  • KRN1L 3 4 6
  • Ultrahigh Sulfur Keratin-Associated Protein 5.1 3 4
  • Keratin, Cuticle, Ultrahigh Sulphur 1-Like 2 4
  • Keratin-Associated Protein 5.1 3 4
  • KRTAP5.1 3 4
  • Keratin-Associated Protein 5-1 3
  • KAP5.1 4

External Ids for KRTAP5-1 Gene

Previous Symbols for KRTAP5-1 Gene

  • KRN1L

Summaries for KRTAP5-1 Gene

GeneCards Summary for KRTAP5-1 Gene

KRTAP5-1 (Keratin Associated Protein 5-1) is a Protein Coding gene. Diseases associated with KRTAP5-1 include epidermolytic hyperkeratosis.

UniProtKB/Swiss-Prot for KRTAP5-1 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

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP5-1 Gene

Genomics for KRTAP5-1 Gene

Genomic Location for KRTAP5-1 Gene

Start:
1,584,342 bp from pter
End:
1,585,283 bp from pter
Size:
942 bases
Orientation:
Minus strand

Genomic View for KRTAP5-1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KRTAP5-1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP5-1 Gene

Regulatory Elements for KRTAP5-1 Gene

Proteins for KRTAP5-1 Gene

  • Protein details for KRTAP5-1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6L8H4-KRA51_HUMAN
    Recommended name:
    Keratin-associated protein 5-1
    Protein Accession:
    Q6L8H4
    Secondary Accessions:

    Protein attributes for KRTAP5-1 Gene

    Size:
    278 amino acids
    Molecular mass:
    24194 Da
    Quaternary structure:
    • Interacts with hair keratins

neXtProt entry for KRTAP5-1 Gene

Proteomics data for KRTAP5-1 Gene at MOPED

Post-translational modifications for KRTAP5-1 Gene

No Post-translational modifications

Other Protein References for KRTAP5-1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP5-1 Gene

Domains for KRTAP5-1 Gene

Gene Families for KRTAP5-1 Gene

HGNC:
  • KRTAP :Keratin associated proteins

Protein Domains for KRTAP5-1 Gene

Blocks:
InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

KRA51_HUMAN
Family:
  • Belongs to the KRTAP type 5 family.:
    • Q6L8H4
genes like me logo Genes that share domains with KRTAP5-1: view

Function for KRTAP5-1 Gene

Molecular function for KRTAP5-1 Gene

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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for KRTAP5-1 Gene

Localization for KRTAP5-1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRTAP5-1 Gene COMPARTMENTS Subcellular localization image for KRTAP5-1 gene
Compartment Confidence
nucleus 3
cytoskeleton 2
extracellular 1

Gene Ontology (GO) - Cellular Components for KRTAP5-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045095 keratin filament IEA --
genes like me logo Genes that share ontologies with KRTAP5-1: view

Pathways for KRTAP5-1 Gene

SuperPathways for KRTAP5-1 Gene

No Data Available

Interacting Proteins for KRTAP5-1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000371606%0d%0a9606.ENSP00000369816%0d%0a
Selected Interacting proteins: ENSP00000371606 for KRTAP5-1 Gene via STRING

Symbol External ID(s) Details
SHBG

Gene Ontology (GO) - Biological Process for KRTAP5-1 Gene

None

No data available for Pathways by source for KRTAP5-1 Gene

Transcripts for KRTAP5-1 Gene

mRNA/cDNA for KRTAP5-1 Gene

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

Unigene Clusters for KRTAP5-1 Gene

Keratin associated protein 5-1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP5-1 Gene

No ASD Table

Relevant External Links for KRTAP5-1 Gene

GeneLoc Exon Structure for
KRTAP5-1
ECgene alternative splicing isoforms for
KRTAP5-1

Expression for KRTAP5-1 Gene

mRNA expression in normal human tissues for KRTAP5-1 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP5-1 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (10.3), Brain - Cerebellar Hemisphere (5.8), and Brain - Cerebellum (5.7).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for KRTAP5-1 Gene

SOURCE GeneReport for Unigene cluster for KRTAP5-1 Gene Hs.632147

mRNA Expression by UniProt/SwissProt for KRTAP5-1 Gene

Q6L8H4-KRA51_HUMAN
Tissue specificity: Expressed in hair root but not in skin. Expressed also in lung, pancreas, ovary, testis.
genes like me logo Genes that share expressions with KRTAP5-1: view

Orthologs for KRTAP5-1 Gene

Evolution for KRTAP5-1 Gene

ENSEMBL:
Gene Tree for KRTAP5-1 (if available)
TreeFam:
Gene Tree for KRTAP5-1 (if available)

No data available for Orthologs for KRTAP5-1 Gene

Paralogs for KRTAP5-1 Gene

No data available for Paralogs for KRTAP5-1 Gene

Variants for KRTAP5-1 Gene

Structural Variations from Database of Genomic Variants (DGV) for KRTAP5-1 Gene

Variant ID Type Subtype PubMed ID
dgv968n71 CNV Loss 21882294

Relevant External Links for KRTAP5-1 Gene

HapMap Linkage Disequilibrium report
KRTAP5-1

No data available for Sequence variations from dbSNP and Humsavar for KRTAP5-1 Gene

Disorders for KRTAP5-1 Gene

genes like me logo Genes that share disorders with KRTAP5-1: view

No data available for UniProtKB/Swiss-Prot for KRTAP5-1 Gene

Publications for KRTAP5-1 Gene

  1. Identification of two novel clusters of ultrahigh-sulfur keratin- associated protein genes on human chromosome 11. (PMID: 15144888) Yahagi S. … Shimizu N. (Biochem. Biophys. Res. Commun. 2004) 2 3 4
  2. Runx1 transcription factor is involved in the regulation of KAP5 gene expression in human hair follicles. (PMID: 16442267) Soma T. … Kishimoto J. (J. Dermatol. Sci. 2006) 3
  3. Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patients. (PMID: 12234709) Sun X.K. … Zhu X.J. (J. Dermatol. Sci. 2002) 3

Products for KRTAP5-1 Gene

Sources for KRTAP5-1 Gene

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