Aliases for KRTAP26-1 Gene

Aliases for KRTAP26-1 Gene

  • Keratin Associated Protein 26-1 2 3 5
  • Keratin-Associated Protein 26-1 3 4
  • KRTAP26-1 5
  • KAP26.1 4

External Ids for KRTAP26-1 Gene

Previous GeneCards Identifiers for KRTAP26-1 Gene

  • GC21M030614
  • GC21M031691
  • GC21M017100

Summaries for KRTAP26-1 Gene

GeneCards Summary for KRTAP26-1 Gene

KRTAP26-1 (Keratin Associated Protein 26-1) is a Protein Coding gene. Diseases associated with KRTAP26-1 include Human Granulocytic Anaplasmosis and Human Monocytic Ehrlichiosis. Among its related pathways are Developmental Biology and Keratinization. An important paralog of this gene is KRTAP11-1.

UniProtKB/Swiss-Prot Summary for KRTAP26-1 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.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRTAP26-1 Gene

Genomics for KRTAP26-1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KRTAP26-1 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
GH21J030329 Enhancer 0.2 Ensembl 0.4 -9.2 -9186 0.2 KRTAP24-1 KRTAP21-2 CLDN8 KRTAP26-1 KRTAP27-1 HSALNG0132584
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRTAP26-1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRTAP26-1

Genomic Locations for KRTAP26-1 Gene

Latest Assembly
chr21:30,319,124-30,320,315
(GRCh38/hg38)
Size:
1,192 bases
Orientation:
Minus strand

Previous Assembly
chr21:31,691,442-31,692,633
(GRCh37/hg19 by Entrez Gene)
Size:
1,192 bases
Orientation:
Minus strand

chr21:31,691,452-31,692,607
(GRCh37/hg19 by Ensembl)
Size:
1,156 bases
Orientation:
Minus strand

Genomic View for KRTAP26-1 Gene

Genes around KRTAP26-1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP26-1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP26-1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP26-1 Gene

Proteins for KRTAP26-1 Gene

  • Protein details for KRTAP26-1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PEX3-KR261_HUMAN
    Recommended name:
    Keratin-associated protein 26-1
    Protein Accession:
    Q6PEX3
    Secondary Accessions:
    • B0RZD3

    Protein attributes for KRTAP26-1 Gene

    Size:
    210 amino acids
    Molecular mass:
    22554 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP26-1 Gene

Post-translational modifications for KRTAP26-1 Gene

No Post-translational modifications

Other Protein References for KRTAP26-1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP26-1 Gene

Domains & Families for KRTAP26-1 Gene

Gene Families for KRTAP26-1 Gene

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

Protein Domains for KRTAP26-1 Gene

InterPro:

Suggested Antigen Peptide Sequences for KRTAP26-1 Gene

GenScript: Design optimal peptide antigens:
  • Keratin-associated protein 26-1 (KR261_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6PEX3

UniProtKB/Swiss-Prot:

KR261_HUMAN :
  • Belongs to the PMG family.
Family:
  • Belongs to the PMG family.
genes like me logo Genes that share domains with KRTAP26-1: view

Function for KRTAP26-1 Gene

Molecular function for KRTAP26-1 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.

Gene Ontology (GO) - Molecular Function for KRTAP26-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22458338
genes like me logo Genes that share ontologies with KRTAP26-1: view
genes like me logo Genes that share phenotypes with KRTAP26-1: view

Animal Models for research

  • Taconic Biosciences Mouse Models for KRTAP26-1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP26-1

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRTAP26-1 Gene

Localization for KRTAP26-1 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 KRTAP26-1 gene
Compartment Confidence
cytosol 4
cytoskeleton 3
plasma membrane 1
extracellular 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KRTAP26-1 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 KRTAP26-1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP26-1 Gene

Pathways & Interactions for KRTAP26-1 Gene

PathCards logo

SuperPathways for KRTAP26-1 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP26-1: view

Pathways by source for KRTAP26-1 Gene

2 Reactome pathways for KRTAP26-1 Gene

Gene Ontology (GO) - Biological Process for KRTAP26-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP26-1: view

No data available for SIGNOR curated interactions for KRTAP26-1 Gene

Drugs & Compounds for KRTAP26-1 Gene

No Compound Related Data Available

Transcripts for KRTAP26-1 Gene

mRNA/cDNA for KRTAP26-1 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 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 KRTAP26-1

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP26-1 Gene

No ASD Table

Relevant External Links for KRTAP26-1 Gene

GeneLoc Exon Structure for
KRTAP26-1

Expression for KRTAP26-1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRTAP26-1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KRTAP26-1 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x43.5) and Skin - Sun Exposed (Lower leg) (x8.2).

Protein differential expression in normal tissues from HIPED for KRTAP26-1 Gene

This gene is overexpressed in Hair follicle (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KRTAP26-1 Gene



Protein tissue co-expression partners for KRTAP26-1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRTAP26-1

SOURCE GeneReport for Unigene cluster for KRTAP26-1 Gene:

Hs.28704

mRNA Expression by UniProt/SwissProt for KRTAP26-1 Gene:

Q6PEX3-KR261_HUMAN
Tissue specificity: Localized high up in the well differentiated portion of the hair follicle cuticle (about 10-15 cell layers above the apex of the dermal papilla).

Evidence on tissue expression from TISSUES for KRTAP26-1 Gene

  • Skin(4.1)
genes like me logo Genes that share expression patterns with KRTAP26-1: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTAP26-1 Gene

Orthologs for KRTAP26-1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP26-1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KRTAP26-1 30
  • 100 (a)
OneToOne
LOC100613423 29
  • 99.68 (n)
Dog
(Canis familiaris)
Mammalia KRTAP26-1 29 30
  • 79.4 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KRTAP26-1 29
  • 71.19 (n)
Mouse
(Mus musculus)
Mammalia Krtap26-1 29 16 30
  • 69.68 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Krtap26-1 29
  • 69.24 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia KRTAP26-1 30
  • 19 (a)
OneToOne
Species where no ortholog for KRTAP26-1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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 KRTAP26-1 Gene

ENSEMBL:
Gene Tree for KRTAP26-1 (if available)
TreeFam:
Gene Tree for KRTAP26-1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRTAP26-1: view image
Alliance of Genome Resources:
Additional Orthologs for KRTAP26-1

Paralogs for KRTAP26-1 Gene

genes like me logo Genes that share paralogs with KRTAP26-1: view

Variants for KRTAP26-1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRTAP26-1 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
rs12483584 -- p.Pro188Thr
rs3804007 -- p.Ser26Tyr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KRTAP26-1 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 KRTAP26-1 Gene

Variant ID Type Subtype PubMed ID
nsv1057467 CNV gain 25217958
nsv1059954 CNV loss 25217958
nsv587354 CNV gain 21841781
nsv834076 CNV gain 17160897

Variation tolerance for KRTAP26-1 Gene

Residual Variation Intolerance Score: 80.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.64; 78.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRTAP26-1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP26-1
Leiden Open Variation Database (LOVD)
KRTAP26-1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP26-1 Gene

Disorders for KRTAP26-1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for KRTAP26-1 Gene - From: COP

Disorder Aliases PubMed IDs
human granulocytic anaplasmosis
  • hge
human monocytic ehrlichiosis
  • ehrlichiosis chafeensis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KRTAP26-1

genes like me logo Genes that share disorders with KRTAP26-1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KRTAP26-1 Gene

Publications for KRTAP26-1 Gene

  1. 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
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. (PMID: 31515488) Fragoza R … Yu H (Nature communications 2019) 3
  4. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X … Vidal M (Cell 2016) 3
  5. Widespread macromolecular interaction perturbations in human genetic disorders. (PMID: 25910212) Sahni N … Vidal M (Cell 2015) 3

Products for KRTAP26-1 Gene

Sources for KRTAP26-1 Gene