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Aliases for KRTAP19-6 Gene

Aliases for KRTAP19-6 Gene

  • Keratin Associated Protein 19-6 2 3 5
  • KAP19.6 3 4
  • Keratin-Associated Protein 19-6 3

External Ids for KRTAP19-6 Gene

Previous GeneCards Identifiers for KRTAP19-6 Gene

  • GC21U900023
  • GC21M030834
  • GC21M030835
  • GC21M031913
  • GC21M017322

Summaries for KRTAP19-6 Gene

GeneCards Summary for KRTAP19-6 Gene

KRTAP19-6 (Keratin Associated Protein 19-6) is a Protein Coding gene. Among its related pathways are Keratinization and Developmental Biology.

UniProtKB/Swiss-Prot for KRTAP19-6 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 , fRNAdb sequence ontologies and piRNA Summary for KRTAP19-6 Gene

Genomics for KRTAP19-6 Gene

Regulatory Elements for KRTAP19-6 Gene

Enhancers for KRTAP19-6 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
GH21G030088 0.3 FANTOM5 1.8 +453.4 453423 0.4 KRTAP23-1 KRTAP19-7 KRTAP27-1 KRTAP15-1 KRTAP13-3 KRTAP25-1 KRTAP19-4 KRTAP19-2 KRTAP19-6 KRTAP13-4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KRTAP19-6 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRTAP19-6 Gene

Chromosome:
21
Start:
30,541,535 bp from pter
End:
30,541,864 bp from pter
Size:
330 bases
Orientation:
Minus strand

Genomic View for KRTAP19-6 Gene

Genes around KRTAP19-6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP19-6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP19-6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP19-6 Gene

Proteins for KRTAP19-6 Gene

  • Protein details for KRTAP19-6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3LI70-KR196_HUMAN
    Recommended name:
    Keratin-associated protein 19-6
    Protein Accession:
    Q3LI70
    Secondary Accessions:
    • Q3LI71

    Protein attributes for KRTAP19-6 Gene

    Size:
    58 amino acids
    Molecular mass:
    6267 Da
    Quaternary structure:
    • Interacts with hair keratins.
    SequenceCaution:
    • Sequence=BAE46363.1; Type=Frameshift; Positions=59; Evidence={ECO:0000305};

neXtProt entry for KRTAP19-6 Gene

Post-translational modifications for KRTAP19-6 Gene

No Post-translational modifications

Other Protein References for KRTAP19-6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP19-6 Gene

Domains & Families for KRTAP19-6 Gene

Gene Families for KRTAP19-6 Gene

Protein Domains for KRTAP19-6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP19-6 Gene

Graphical View of Domain Structure for InterPro Entry

Q3LI70

UniProtKB/Swiss-Prot:

KR196_HUMAN :
  • Belongs to the KRTAP type 19 family.
Family:
  • Belongs to the KRTAP type 19 family.
genes like me logo Genes that share domains with KRTAP19-6: view

Function for KRTAP19-6 Gene

Molecular function for KRTAP19-6 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.
genes like me logo Genes that share phenotypes with KRTAP19-6: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRTAP19-6 Gene

Localization for KRTAP19-6 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 KRTAP19-6 gene
Compartment Confidence
cytosol 4
extracellular 3
cytoskeleton 3

Gene Ontology (GO) - Cellular Components for KRTAP19-6 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 KRTAP19-6: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRTAP19-6 Gene

Pathways & Interactions for KRTAP19-6 Gene

SuperPathways for KRTAP19-6 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP19-6: view

Pathways by source for KRTAP19-6 Gene

2 Reactome pathways for KRTAP19-6 Gene

Interacting Proteins for KRTAP19-6 Gene

Gene Ontology (GO) - Biological Process for KRTAP19-6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP19-6: view

No data available for SIGNOR curated interactions for KRTAP19-6 Gene

Drugs & Compounds for KRTAP19-6 Gene

No Compound Related Data Available

Transcripts for KRTAP19-6 Gene

mRNA/cDNA for KRTAP19-6 Gene

(2) REFSEQ mRNAs :
(1) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP19-6 Gene

No ASD Table

Relevant External Links for KRTAP19-6 Gene

GeneLoc Exon Structure for
KRTAP19-6
ECgene alternative splicing isoforms for
KRTAP19-6

Expression for KRTAP19-6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRTAP19-6 Gene

SOURCE GeneReport for Unigene cluster for KRTAP19-6 Gene:

Hs.553695

Evidence on tissue expression from TISSUES for KRTAP19-6 Gene

  • Skin(4)
genes like me logo Genes that share expression patterns with KRTAP19-6: 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 KRTAP19-6 Gene

Orthologs for KRTAP19-6 Gene

Evolution for KRTAP19-6 Gene

ENSEMBL:
Gene Tree for KRTAP19-6 (if available)
TreeFam:
Gene Tree for KRTAP19-6 (if available)

No data available for Orthologs for KRTAP19-6 Gene

Paralogs for KRTAP19-6 Gene

No data available for Paralogs for KRTAP19-6 Gene

Variants for KRTAP19-6 Gene

Sequence variations from dbSNP and Humsavar for KRTAP19-6 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs1000612415 -- 30,542,379(+) ACATT(A/G)CTAAC upstream-variant-2KB
rs1001038971 -- 30,542,689(+) ATAAT(C/T)ACTGG upstream-variant-2KB
rs1001179437 -- 30,541,298(+) CTGTT(A/G)AAATA downstream-variant-500B
rs1001462502 -- 30,541,530(+) CTGAT(A/G)GCTAG downstream-variant-500B
rs1002287121 -- 30,542,167(+) GTTGA(C/T)AGCTT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for KRTAP19-6 Gene

Variant ID Type Subtype PubMed ID
nsv1057467 CNV gain 25217958
nsv587354 CNV gain 21841781

Variation tolerance for KRTAP19-6 Gene

Residual Variation Intolerance Score: 69.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.00; 20.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRTAP19-6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP19-6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP19-6 Gene

Disorders for KRTAP19-6 Gene

Relevant External Links for KRTAP19-6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP19-6

No disorders were found for KRTAP19-6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP19-6 Gene

Publications for KRTAP19-6 Gene

  1. Characterization of a first domain of human high glycine-tyrosine and high sulfur keratin-associated protein (KAP) genes on chromosome 21q22.1. (PMID: 12359730) Rogers M.A. … Schweizer J. (J. Biol. Chem. 2002) 2 3 64
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 64
  3. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M. … Yaspo M.-L. (Nature 2000) 4 64

Products for KRTAP19-6 Gene

Sources for KRTAP19-6 Gene

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