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Aliases for KRTAP27-1 Gene

Aliases for KRTAP27-1 Gene

  • Keratin Associated Protein 27-1 2 3 5
  • KAP27.1 4

External Ids for KRTAP27-1 Gene

Previous GeneCards Identifiers for KRTAP27-1 Gene

  • GC21M030632
  • GC21M031709
  • GC21M017118

Summaries for KRTAP27-1 Gene

GeneCards Summary for KRTAP27-1 Gene

KRTAP27-1 (Keratin Associated Protein 27-1) is a Protein Coding gene. Among its related pathways are Keratinization and Developmental Biology.

UniProtKB/Swiss-Prot for KRTAP27-1 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.

Additional gene information for KRTAP27-1 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 KRTAP27-1 Gene

Genomics for KRTAP27-1 Gene

Regulatory Elements for KRTAP27-1 Gene

Enhancers for KRTAP27-1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21H030088 0.3 FANTOM5 8.9 +249.3 249253 0 KRTAP23-1 KRTAP19-7 KRTAP27-1 KRTAP15-1 KRTAP13-3 KRTAP25-1 KRTAP19-4 KRTAP19-2 KRTAP19-6 KRTAP13-4
GH21H029848 0.3 FANTOM5 6.2 +489.1 489053 0 KRTAP27-1 KRTAP23-1 KRTAP25-1 GC21P029844 GRIK1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KRTAP27-1 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRTAP27-1 Gene

Chromosome:
21
Start:
30,337,013 bp from pter
End:
30,337,694 bp from pter
Size:
682 bases
Orientation:
Minus strand

Genomic View for KRTAP27-1 Gene

Genes around KRTAP27-1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP27-1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP27-1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP27-1 Gene

Proteins for KRTAP27-1 Gene

  • Protein details for KRTAP27-1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3LI81-KR271_HUMAN
    Recommended name:
    Keratin-associated protein 27-1
    Protein Accession:
    Q3LI81

    Protein attributes for KRTAP27-1 Gene

    Size:
    207 amino acids
    Molecular mass:
    22345 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP27-1 Gene

Post-translational modifications for KRTAP27-1 Gene

No Post-translational modifications

Other Protein References for KRTAP27-1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP27-1 Gene

Domains & Families for KRTAP27-1 Gene

Gene Families for KRTAP27-1 Gene

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

Protein Domains for KRTAP27-1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP27-1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q3LI81

UniProtKB/Swiss-Prot:

KR271_HUMAN :
  • Belongs to the PMG family.
Family:
  • Belongs to the PMG family.
genes like me logo Genes that share domains with KRTAP27-1: view

Function for KRTAP27-1 Gene

Molecular function for KRTAP27-1 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.

Phenotypes for KRTAP27-1 Gene

GenomeRNAi human phenotypes for KRTAP27-1:
genes like me logo Genes that share phenotypes with KRTAP27-1: view

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for KRTAP27-1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 KRTAP27-1 Gene

Localization for KRTAP27-1 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 KRTAP27-1 gene
Compartment Confidence
cytosol 5
cytoskeleton 3
extracellular 2
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for KRTAP27-1 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 KRTAP27-1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP27-1 Gene

Pathways & Interactions for KRTAP27-1 Gene

SuperPathways for KRTAP27-1 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP27-1: view

Pathways by source for KRTAP27-1 Gene

2 Reactome pathways for KRTAP27-1 Gene

Interacting Proteins for KRTAP27-1 Gene

Gene Ontology (GO) - Biological Process for KRTAP27-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP27-1: view

No data available for SIGNOR curated interactions for KRTAP27-1 Gene

Drugs & Compounds for KRTAP27-1 Gene

No Compound Related Data Available

Transcripts for KRTAP27-1 Gene

mRNA/cDNA for KRTAP27-1 Gene

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

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for KRTAP27-1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP27-1 Gene

No ASD Table

Relevant External Links for KRTAP27-1 Gene

GeneLoc Exon Structure for
KRTAP27-1
ECgene alternative splicing isoforms for
KRTAP27-1

Expression for KRTAP27-1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRTAP27-1 Gene

SOURCE GeneReport for Unigene cluster for KRTAP27-1 Gene:

Hs.580881

Evidence on tissue expression from TISSUES for KRTAP27-1 Gene

  • Skin(4.2)
genes like me logo Genes that share expression patterns with KRTAP27-1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTAP27-1 Gene

Orthologs for KRTAP27-1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP27-1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRTAP27-1 33 34
  • 98.54 (n)
dog
(Canis familiaris)
Mammalia KRTAP27-1 33 34
  • 79.35 (n)
cow
(Bos Taurus)
Mammalia KRTAP27-1 33 34
  • 77.37 (n)
mouse
(Mus musculus)
Mammalia Krtap27-1 33 16 34
  • 70.79 (n)
rat
(Rattus norvegicus)
Mammalia Krtap27-1 33
  • 69.64 (n)
Species where no ortholog for KRTAP27-1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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 KRTAP27-1 Gene

ENSEMBL:
Gene Tree for KRTAP27-1 (if available)
TreeFam:
Gene Tree for KRTAP27-1 (if available)

Paralogs for KRTAP27-1 Gene

No data available for Paralogs for KRTAP27-1 Gene

Variants for KRTAP27-1 Gene

Sequence variations from dbSNP and Humsavar for KRTAP27-1 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs1000253652 -- 30,337,312(+) GTGCT(C/T)TCTGA reference, synonymous-codon
rs1000363509 -- 30,338,940(+) TTAAA(G/T)ATCTC upstream-variant-2KB
rs1001220065 -- 30,338,437(+) TCTAT(A/G)CTTGA upstream-variant-2KB
rs1001249610 -- 30,338,827(+) AAAAG(A/G)GCACA upstream-variant-2KB
rs1002700206 -- 30,336,680(+) AGTAG(C/T)ACATT downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for KRTAP27-1 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 KRTAP27-1 Gene

Residual Variation Intolerance Score: 79.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.64; 78.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRTAP27-1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP27-1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP27-1 Gene

Disorders for KRTAP27-1 Gene

Relevant External Links for KRTAP27-1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP27-1

No disorders were found for KRTAP27-1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP27-1 Gene

Publications for KRTAP27-1 Gene

No publications were found for KRTAP27-1 Gene.

Products for KRTAP27-1 Gene

Sources for KRTAP27-1 Gene

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