Aliases for KRTAP5-4 Gene

Aliases for KRTAP5-4 Gene

  • Keratin Associated Protein 5-4 2 3 5
  • KRTAP5.4 2 3 4
  • Ultrahigh Sulfur Keratin-Associated Protein 5.4 3 4
  • Keratin-Associated Protein 5-4 3 4
  • Keratin-Associated Protein 5.4 3 4
  • KRTAP5-4 5
  • KAP5.4 4

External Ids for KRTAP5-4 Gene

Previous GeneCards Identifiers for KRTAP5-4 Gene

  • GC00U913940
  • GC11U900659
  • GC11M001586
  • GC11M001642
  • GC11M001406
  • GC11M001606
  • GC11Mj00097

Summaries for KRTAP5-4 Gene

GeneCards Summary for KRTAP5-4 Gene

KRTAP5-4 (Keratin Associated Protein 5-4) is a Protein Coding gene. Diseases associated with KRTAP5-4 include Beare-Stevenson Cutis Gyrata Syndrome. Among its related pathways are Developmental Biology and Keratinization.

UniProtKB/Swiss-Prot Summary for KRTAP5-4 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 , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRTAP5-4 Gene

Genomics for KRTAP5-4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KRTAP5-4 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
GH11J001623 Enhancer 0.2 Ensembl 250.7 -1.8 -1763 0.2 KRTAP5-4 KRTAP5-2 LINC02708 KRTAP5-6 FAM99B KRTAP5-5
GH11J001530 Promoter/Enhancer 0.9 EPDnew ENCODE dbSUPER 10.2 +89.9 89881 3.1 ZIC2 CTCF ZNF687 MNT MOB2 KRTAP5-AS1 TOLLIP TOLLIP-DT KRTAP5-5 KRTAP5-4 GATD1 piR-42694-025 DUSP8
GH11J001533 Enhancer 0.6 Ensembl dbSUPER 10.2 +85.7 85738 3.6 ZBTB33 ZNF664 MEIS2 ZBTB17 BCOR SMARCA5 MOB2 KRTAP5-AS1 TOLLIP TOLLIP-DT KRTAP5-4 H19 GATD1 piR-42694-025 DUSP8
GH11J001806 Enhancer 0.5 Ensembl 10.2 -188.5 -188463 8.8 POLR2A KLF1 HLF ZNF512 CTCF AFF1 HSALNG0082149 IFITM10 ENSG00000235027 TNNI2 CTSD ENSG00000229512 ENSG00000250644 MRPL23-AS1 LINC01219 FAM99B
GH11J001601 Enhancer 0.2 Ensembl 12.9 +21.2 21237 0.2 KRTAP5-4 KRTAP5-5 KRTAP5-AS1 KRTAP5-2 KRTAP5-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRTAP5-4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRTAP5-4

Top Transcription factor binding sites by QIAGEN in the KRTAP5-4 gene promoter:
  • AP-4
  • FOXC1
  • FOXD1
  • FOXF2
  • FOXJ2
  • FOXJ2 (long isoform)
  • HFH-1

Genomic Locations for KRTAP5-4 Gene

Latest Assembly
chr11:1,620,958-1,622,138
(GRCh38/hg38)
Size:
1,181 bases
Orientation:
Minus strand

Previous Assembly
chr11:1,642,188-1,643,368
(GRCh37/hg19 by Entrez Gene)
Size:
1,181 bases
Orientation:
Minus strand

chr11:1,642,188-1,643,368
(GRCh37/hg19 by Ensembl)
Size:
1,181 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr11(ALT_REF_LOCI_1):103,195-104,375 (-)
  • chr11(ALT_REF_LOCI_2):97,515-98,873 (-)

Genomic View for KRTAP5-4 Gene

Genes around KRTAP5-4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP5-4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP5-4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP5-4 Gene

Proteins for KRTAP5-4 Gene

  • Protein details for KRTAP5-4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6L8H1-KRA54_HUMAN
    Recommended name:
    Keratin-associated protein 5-4
    Protein Accession:
    Q6L8H1

    Protein attributes for KRTAP5-4 Gene

    Size:
    288 amino acids
    Molecular mass:
    25249 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP5-4 Gene

Post-translational modifications for KRTAP5-4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRTAP5-4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP5-4 Gene

Domains & Families for KRTAP5-4 Gene

Gene Families for KRTAP5-4 Gene

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

Protein Domains for KRTAP5-4 Gene

InterPro:
Blocks:
  • von Willebrand factor, type C

Suggested Antigen Peptide Sequences for KRTAP5-4 Gene

GenScript: Design optimal peptide antigens:
  • Ultrahigh sulfur keratin-associated protein 5.4 (KRA54_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6L8H1

UniProtKB/Swiss-Prot:

KRA54_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 KRTAP5-4: view

Function for KRTAP5-4 Gene

Molecular function for KRTAP5-4 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 KRTAP5-4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with KRTAP5-4: view
genes like me logo Genes that share phenotypes with KRTAP5-4: view

miRNA for KRTAP5-4 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP5-4

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KRTAP5-4 Gene

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

Gene Ontology (GO) - Cellular Components for KRTAP5-4 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 KRTAP5-4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP5-4 Gene

Pathways & Interactions for KRTAP5-4 Gene

PathCards logo

SuperPathways for KRTAP5-4 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP5-4: view

Pathways by source for KRTAP5-4 Gene

2 Reactome pathways for KRTAP5-4 Gene

Gene Ontology (GO) - Biological Process for KRTAP5-4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP5-4: view

No data available for SIGNOR curated interactions for KRTAP5-4 Gene

Drugs & Compounds for KRTAP5-4 Gene

No Compound Related Data Available

Transcripts for KRTAP5-4 Gene

mRNA/cDNA for KRTAP5-4 Gene

2 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP5-4

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP5-4 Gene

No ASD Table

Relevant External Links for KRTAP5-4 Gene

GeneLoc Exon Structure for
KRTAP5-4

Expression for KRTAP5-4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRTAP5-4 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP5-4 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x46.9).

Protein differential expression in normal tissues from HIPED for KRTAP5-4 Gene

This gene is overexpressed in Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KRTAP5-4 Gene



Protein tissue co-expression partners for KRTAP5-4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRTAP5-4

SOURCE GeneReport for Unigene cluster for KRTAP5-4 Gene:

Hs.539087

mRNA Expression by UniProt/SwissProt for KRTAP5-4 Gene:

Q6L8H1-KRA54_HUMAN
Tissue specificity: Restricted to hair root, not detected in any other tissues.

Evidence on tissue expression from TISSUES for KRTAP5-4 Gene

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

Primer products for research

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 KRTAP5-4 Gene

Orthologs for KRTAP5-4 Gene

Evolution for KRTAP5-4 Gene

ENSEMBL:
Gene Tree for KRTAP5-4 (if available)
TreeFam:
Gene Tree for KRTAP5-4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRTAP5-4: view image
Alliance of Genome Resources:
Additional Orthologs for KRTAP5-4

No data available for Orthologs for KRTAP5-4 Gene

Paralogs for KRTAP5-4 Gene

No data available for Paralogs for KRTAP5-4 Gene

Variants for KRTAP5-4 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KRTAP5-4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KRTAP5-4 Gene

Variant ID Type Subtype PubMed ID
dgv1554n54 CNV loss 21841781
esv2743947 CNV deletion 23290073
esv2761643 CNV gain 21179565
esv3579241 CNV loss 25503493
nsv1051627 CNV gain 25217958
nsv467643 CNV loss 19166990
nsv467644 CNV loss 19166990
nsv552999 CNV gain 21841781
nsv553000 CNV gain 21841781
nsv553002 CNV loss 21841781

Variation tolerance for KRTAP5-4 Gene

Gene Damage Index Score: 3.76; 57.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRTAP5-4 Gene

Human Gene Mutation Database (HGMD)
KRTAP5-4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP5-4
Leiden Open Variation Database (LOVD)
KRTAP5-4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRTAP5-4 Gene

Disorders for KRTAP5-4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KRTAP5-4 Gene - From: COP

Disorder Aliases PubMed IDs
beare-stevenson cutis gyrata syndrome
  • bstvs
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KRTAP5-4

genes like me logo Genes that share disorders with KRTAP5-4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KRTAP5-4 Gene

Publications for KRTAP5-4 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
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for KRTAP5-4 Gene

Sources for KRTAP5-4 Gene