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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

GeneHancer (GH) Regulatory Elements for KRTAP27-1 Gene

Promoters and enhancers for KRTAP27-1 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
GH21I030088 Enhancer 0.2 FANTOM5 8.9 +249.3 249252 0.4 ENSG00000259981 KRTAP23-1 KRTAP19-7 KRTAP27-1 KRTAP15-1 KRTAP13-3 KRTAP25-1 KRTAP19-4 KRTAP19-2 KRTAP19-6
GH21I029848 Enhancer 0.2 FANTOM5 6.2 +489.1 489052 0.3 KRTAP27-1 KRTAP23-1 KRTAP25-1 GC21P029844 GRIK1
GH21I030320 Promoter 0.5 EPDnew 0.4 +17.4 17359 0.1 KRTAP26-1 KRTAP27-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

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

Top Transcription factor binding sites by QIAGEN in the KRTAP27-1 gene promoter:

Genomic Locations for KRTAP27-1 Gene

Genomic Locations for KRTAP27-1 Gene
chr21:30,337,013-30,337,694
(GRCh38/hg38)
Size:
682 bases
Orientation:
Minus strand
chr21:31,709,331-31,710,012
(GRCh37/hg19)

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

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 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 :

Clone Products

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 Variation AA Info Type
rs1000253652 -- 30,337,312(-) T/C coding_sequence_variant, synonymous_variant
rs1000363509 -- 30,338,940(-) G/T upstream_transcript_variant
rs1001220065 -- 30,338,437(-) A/G upstream_transcript_variant
rs1001249610 -- 30,338,827(-) G/A upstream_transcript_variant
rs1002700206 -- 30,336,680(-) C/T downstream_transcript_variant

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)

Additional Variant Information 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

Additional Disease Information for 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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