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Aliases for KRTAP5-1 Gene

Aliases for KRTAP5-1 Gene

  • Keratin Associated Protein 5-1 2 3 5
  • 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
  • KRN1L 3 4
  • Keratin-Associated Protein 5-1 3
  • KAP5.1 4

External Ids for KRTAP5-1 Gene

Previous HGNC Symbols for KRTAP5-1 Gene

  • KRN1L

Previous GeneCards Identifiers for KRTAP5-1 Gene

  • GC00U913937
  • GC11U900626
  • GC11M001562
  • GC11M001605
  • GC11M001398

Summaries for KRTAP5-1 Gene

GeneCards Summary for KRTAP5-1 Gene

KRTAP5-1 (Keratin Associated Protein 5-1) is a Protein Coding gene. Among its related pathways are Keratinization and Developmental Biology.

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.

Additional gene information for KRTAP5-1 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 KRTAP5-1 Gene

Genomics for KRTAP5-1 Gene

GeneHancer (GH) Regulatory Elements for KRTAP5-1 Gene

Promoters and enhancers for KRTAP5-1 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
GH11I001556 Enhancer 1.2 Ensembl ENCODE dbSUPER 12.5 +26.6 26552 4.5 NFIB KLF17 SIN3A YY1 GLIS2 RCOR1 FOS EGR2 USF2 CEBPB GC11M001556 KRTAP5-AS1 MOB2 KRTAP5-1 KRTAP5-2 GC11M001565 DUSP8
GH11I001555 Enhancer 0.7 ENCODE dbSUPER 12.5 +30.9 30857 0.2 CTCF GLIS2 SP3 USF1 GLIS1 RAD21 KRTAP5-1 KRTAP5-2 MOB2 LOC101927562 DUSP8 GC11P001533
GH11I001605 Enhancer 0.5 ENCODE 12.2 -20.8 -20805 0.8 NBN ETV6 ELF1 MLLT1 SPI1 KRTAP5-AS1 KRTAP5-5 KRTAP5-1 DUSP8 FAM99B LOC100505570 KRTAP5-6 KRTAP5-3 GC11P001598
GH11I001730 Enhancer 0.4 FANTOM5 12.8 -145.4 -145391 0.4 TARDBP MNT KRTAP5-6 ENSG00000235027 KRTAP5-1 CTSD ENSG00000229512 ENSG00000250644 KRTAP5-5 LOC100505570 FAM99B KRTAP5-3
GH11I001553 Enhancer 0.3 dbSUPER 13.4 +31.4 31445 0.2 EZH2 KRTAP5-1 KRTAP5-2 TOLLIP TOLLIP-AS1 KRTAP5-AS1 LOC101927562 GC11P001533
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KRTAP5-1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KRTAP5-1 gene promoter:

Genomic Locations for KRTAP5-1 Gene

Genomic Locations for KRTAP5-1 Gene
chr11:1,584,342-1,585,283
(GRCh38/hg38)
Size:
942 bases
Orientation:
Minus strand
chr11:1,605,572-1,606,513
(GRCh37/hg19)

Genomic View for KRTAP5-1 Gene

Genes around KRTAP5-1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP5-1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP5-1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

    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

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 & Families for KRTAP5-1 Gene

Gene Families for KRTAP5-1 Gene

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

Protein Domains for KRTAP5-1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP5-1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6L8H4

UniProtKB/Swiss-Prot:

KRA51_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 KRTAP5-1: 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.

Phenotypes for KRTAP5-1 Gene

GenomeRNAi human phenotypes for KRTAP5-1:
genes like me logo Genes that share phenotypes with KRTAP5-1: 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 KRTAP5-1 Gene

Localization for KRTAP5-1 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 KRTAP5-1 gene
Compartment Confidence
cytosol 4
nucleus 3
cytoskeleton 2
extracellular 1

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP5-1 Gene

Pathways & Interactions for KRTAP5-1 Gene

SuperPathways for KRTAP5-1 Gene

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

Pathways by source for KRTAP5-1 Gene

2 Reactome pathways for KRTAP5-1 Gene

Interacting Proteins for KRTAP5-1 Gene

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP5-1: view

No data available for SIGNOR curated interactions for KRTAP5-1 Gene

Drugs & Compounds for KRTAP5-1 Gene

No Compound Related Data Available

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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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) (x10.3), Brain - Cerebellar Hemisphere (x5.8), and Brain - Cerebellum (x5.7).

Protein differential expression in normal tissues from HIPED for KRTAP5-1 Gene

This gene is overexpressed in Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KRTAP5-1 Gene



Protein tissue co-expression partners for KRTAP5-1 Gene

- Elite partner

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.

Evidence on tissue expression from TISSUES for KRTAP5-1 Gene

  • Skin(4)
genes like me logo Genes that share expression patterns with KRTAP5-1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTAP5-1 Gene

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

Sequence variations from dbSNP and Humsavar for KRTAP5-1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000104507 -- 1,586,645(-) T/G upstream_transcript_variant
rs1002597005 -- 1,584,173(-) GGGGGG/GGGGGGG downstream_transcript_variant
rs1003205905 -- 1,585,882(-) T/C upstream_transcript_variant
rs1004434355 -- 1,584,145(-) G/A downstream_transcript_variant
rs1005223616 -- 1,585,521(-) CC/CCC upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv1051627 CNV gain 25217958
esv2761643 CNV gain 21179565

Variation tolerance for KRTAP5-1 Gene

Residual Variation Intolerance Score: 79% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.74; 32.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRTAP5-1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP5-1

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

Disorders for KRTAP5-1 Gene

Additional Disease Information for KRTAP5-1

No disorders were found for KRTAP5-1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 (Biochemical and biophysical research communications 2004) 2 3 4 58
  2. Runx1 transcription factor is involved in the regulation of KAP5 gene expression in human hair follicles. (PMID: 16442267) Soma T … Kishimoto J (Journal of dermatological science 2006) 3 58
  3. Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patients. (PMID: 12234709) Sun XK … Zhu XJ (Journal of dermatological science 2002) 3 58

Products for KRTAP5-1 Gene

Sources for KRTAP5-1 Gene

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