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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
  • Keratin-Associated Protein 19-1 3
  • 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. Among its related pathways are Keratinization and Developmental Biology.

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.

Additional gene information for KRTAP19-1 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 KRTAP19-1 Gene

Genomics for KRTAP19-1 Gene

GeneHancer (GH) Regulatory Elements for KRTAP19-1 Gene

Promoters and enhancers for KRTAP19-1 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
GH21J030482 Enhancer 0.3 ENCODE 0.7 -2.0 -2013 0.1 TRIM28 KRTAP19-1 KRTAP19-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

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

Top Transcription factor binding sites by QIAGEN in the KRTAP19-1 gene promoter:

Genomic Locations for KRTAP19-1 Gene

Genomic Locations for KRTAP19-1 Gene
chr21:30,479,699-30,480,344
(GRCh38/hg38)
Size:
646 bases
Orientation:
Minus strand
chr21:31,852,018-31,852,663
(GRCh37/hg19)

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

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

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

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.
genes like me logo Genes that share phenotypes with KRTAP19-1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP19-1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
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 KRTAP19-1 gene
Compartment Confidence
cytosol 5
extracellular 3
cytoskeleton 3
nucleus 1

Gene Ontology (GO) - Cellular Components for KRTAP19-1 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 KRTAP19-1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP19-1 Gene

Pathways & Interactions for KRTAP19-1 Gene

SuperPathways for KRTAP19-1 Gene

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

Pathways by source for KRTAP19-1 Gene

2 Reactome pathways for KRTAP19-1 Gene

Interacting Proteins for KRTAP19-1 Gene

Selected Interacting proteins: Q8IUB9-KR191_HUMAN for KRTAP19-1 Gene via UniProtKB

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP19-1: view

No data available for 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

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

Unigene Clusters for KRTAP19-1 Gene

Keratin associated protein 19-1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP19-1

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners 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.

Evidence on tissue expression from TISSUES for KRTAP19-1 Gene

  • Skin(4)
genes like me logo Genes that share expression patterns with KRTAP19-1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer 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)
Aminode:
Evolutionary constrained regions (ECRs) for KRTAP19-1: view image

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 Variation AA Info Type
rs1000349817 -- 30,482,182(-) T/G upstream_transcript_variant
rs1000401628 -- 30,480,857(-) C/T upstream_transcript_variant
rs1000690008 -- 30,481,222(-) C/G upstream_transcript_variant
rs1005062751 -- 30,481,604(-) C/A/T upstream_transcript_variant
rs1005528355 -- 30,481,864(-) T/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for KRTAP19-1 Gene

Variant ID Type Subtype PubMed ID
esv2762104 CNV gain 21179565
nsv1057467 CNV gain 25217958
nsv587354 CNV gain 21841781

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)

Additional Variant Information for KRTAP19-1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP19-1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP19-1 Gene

Disorders for KRTAP19-1 Gene

Additional Disease Information for 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 MA … Schweizer J (The Journal of biological chemistry 2002) 2 3 4 58
  2. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 4 58
  3. 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) 4 58
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58

Products for KRTAP19-1 Gene

Sources for KRTAP19-1 Gene

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