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Aliases for KRTAP19-1 Gene

Aliases for KRTAP19-1 Gene

  • Keratin Associated Protein 19-1 2 3 5
  • High Tyrosine-Glycine Keratin-Associated Protein 19.1 3 4
  • KAP19.1 3 4
  • KRTAP19.1 4

External Ids for KRTAP19-1 Gene

Previous GeneCards Identifiers for KRTAP19-1 Gene

  • GC21U900013
  • GC21M030772
  • GC21M030774
  • GC21M031852
  • GC21M017261

Summaries for KRTAP19-1 Gene

GeneCards Summary for KRTAP19-1 Gene

KRTAP19-1 (Keratin Associated Protein 19-1) is a Protein Coding gene.

UniProtKB/Swiss-Prot for KRTAP19-1 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 , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP19-1 Gene

Genomics for KRTAP19-1 Gene

Regulatory Elements for KRTAP19-1 Gene

Enhancers for KRTAP19-1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KRTAP19-1 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRTAP19-1 Gene

Chromosome:
21
Start:
30,479,699 bp from pter
End:
30,480,344 bp from pter
Size:
646 bases
Orientation:
Minus strand

Genomic View for KRTAP19-1 Gene

Genes around KRTAP19-1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP19-1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP19-1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP19-1 Gene

Proteins for KRTAP19-1 Gene

  • Protein details for KRTAP19-1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IUB9-KR191_HUMAN
    Recommended name:
    Keratin-associated protein 19-1
    Protein Accession:
    Q8IUB9
    Secondary Accessions:
    • A4QN27
    • Q3LI75

    Protein attributes for KRTAP19-1 Gene

    Size:
    90 amino acids
    Molecular mass:
    9008 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP19-1 Gene

Proteomics data for KRTAP19-1 Gene at MOPED

Post-translational modifications for KRTAP19-1 Gene

No Post-translational modifications

Other Protein References for KRTAP19-1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP19-1 Gene

Domains & Families for KRTAP19-1 Gene

Gene Families for KRTAP19-1 Gene

Protein Domains for KRTAP19-1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP19-1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IUB9

UniProtKB/Swiss-Prot:

KR191_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 KRTAP19-1: view

Function for KRTAP19-1 Gene

Molecular function for KRTAP19-1 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 KRTAP19-1 Gene

GenomeRNAi human phenotypes for KRTAP19-1:
genes like me logo Genes that share phenotypes with KRTAP19-1: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KRTAP19-1 Gene

Localization for KRTAP19-1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRTAP19-1 Gene COMPARTMENTS Subcellular localization image for KRTAP19-1 gene
Compartment Confidence
cytoskeleton 3
extracellular 3
cytosol 1
nucleus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for KRTAP19-1 Gene

Pathways & Interactions for KRTAP19-1 Gene

SuperPathways for KRTAP19-1 Gene

No Data Available

Interacting Proteins for KRTAP19-1 Gene

Gene Ontology (GO) - Biological Process for KRTAP19-1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KRTAP19-1 Gene

Drugs & Compounds for KRTAP19-1 Gene

No Compound Related Data Available

Transcripts for KRTAP19-1 Gene

mRNA/cDNA for KRTAP19-1 Gene

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

Unigene Clusters for KRTAP19-1 Gene

Keratin associated protein 19-1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP19-1 Gene

No ASD Table

Relevant External Links for KRTAP19-1 Gene

GeneLoc Exon Structure for
KRTAP19-1
ECgene alternative splicing isoforms for
KRTAP19-1

Expression for KRTAP19-1 Gene

mRNA expression in normal human tissues for KRTAP19-1 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP19-1 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x48.5) and Skin - Sun Exposed (Lower leg) (x4.0).

Protein differential expression in normal tissues from HIPED for KRTAP19-1 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 KRTAP19-1 Gene



SOURCE GeneReport for Unigene cluster for KRTAP19-1 Gene Hs.61552

mRNA Expression by UniProt/SwissProt for KRTAP19-1 Gene

Q8IUB9-KR191_HUMAN
Tissue specificity: Detected in the upper portion of the hair cortex.
genes like me logo Genes that share expression patterns with KRTAP19-1: view

Protein tissue co-expression partners for KRTAP19-1 Gene

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for KRTAP19-1 Gene

Orthologs for KRTAP19-1 Gene

Evolution for KRTAP19-1 Gene

ENSEMBL:
Gene Tree for KRTAP19-1 (if available)
TreeFam:
Gene Tree for KRTAP19-1 (if available)

No data available for Orthologs for KRTAP19-1 Gene

Paralogs for KRTAP19-1 Gene

No data available for Paralogs for KRTAP19-1 Gene

Variants for KRTAP19-1 Gene

Sequence variations from dbSNP and Humsavar for KRTAP19-1 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs2832908 -- 30,479,861(+) ACGGA(C/T)TCCGA downstream-variant-500B
rs4817335 -- 30,481,406(+) AGTTA(G/T)CTTTT upstream-variant-2KB
rs5843447 -- 30,482,218(+) TTTTT(-/T)ACAAT upstream-variant-2KB
rs8128202 -- 30,479,764(+) ATCTT(G/T)ATAGA downstream-variant-500B
rs8130137 -- 30,481,753(+) TAAGA(C/T)TTTTT upstream-variant-2KB

Variation tolerance for KRTAP19-1 Gene

Residual Variation Intolerance Score: 54.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.60; 30.79% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Relevant External Links for KRTAP19-1 Gene

Disorders for KRTAP19-1 Gene

Relevant External Links for KRTAP19-1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP19-1

No disorders were found for KRTAP19-1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP19-1 Gene

Publications for KRTAP19-1 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 4 67
  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
  3. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M. … Yaspo M.-L. (Nature 2000) 3

Products for KRTAP19-1 Gene

Sources for KRTAP19-1 Gene

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