Aliases for KRTAP19-8 Gene

Aliases for KRTAP19-8 Gene

  • Keratin Associated Protein 19-8 2 3 5
  • Keratin-Associated Protein 19-8 3 4
  • KAP19.8 4

External Ids for KRTAP19-8 Gene

Previous GeneCards Identifiers for KRTAP19-8 Gene

  • GC21M031334
  • GC21M032410
  • GC21M017820

Summaries for KRTAP19-8 Gene

GeneCards Summary for KRTAP19-8 Gene

KRTAP19-8 (Keratin Associated Protein 19-8) is a Protein Coding gene. Diseases associated with KRTAP19-8 include Three M Syndrome 1. Among its related pathways are Keratinization and Developmental Biology.

UniProtKB/Swiss-Prot Summary for KRTAP19-8 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 KRTAP19-8 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRTAP19-8 Gene

Genomics for KRTAP19-8 Gene

GeneHancer (GH) Regulatory Elements for KRTAP19-8 Gene

Promoters and enhancers for KRTAP19-8 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
GH21J031014 Enhancer 0.3 Ensembl 11 +24.3 24275 0.4 HNRNPK KRTAP19-8 LOC105372775 LOC105372776 lnc-KRTAP20-3-1 lnc-KRTAP19-8-1
GH21J031052 Enhancer 0.3 Ensembl 0.4 -14.2 -14225 0.6 ZBTB17 KRTAP19-8 UBE3AP2 lnc-KRTAP20-3-1 lnc-KRTAP19-8-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRTAP19-8 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRTAP19-8

Top Transcription factor binding sites by QIAGEN in the KRTAP19-8 gene promoter:
  • Brachyury
  • C/EBPbeta
  • Cart-1
  • COUP-TF1
  • Gfi-1
  • HNF-4alpha1
  • HNF-4alpha2
  • PPAR-gamma1
  • PPAR-gamma2
  • RP58

Genomic Locations for KRTAP19-8 Gene

Genomic Locations for KRTAP19-8 Gene
chr21:31,038,159-31,038,476
(GRCh38/hg38)
Size:
318 bases
Orientation:
Minus strand
chr21:32,410,478-32,410,795
(GRCh37/hg19)
Size:
318 bases
Orientation:
Minus strand

Genomic View for KRTAP19-8 Gene

Genes around KRTAP19-8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP19-8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP19-8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP19-8 Gene

Proteins for KRTAP19-8 Gene

  • Protein details for KRTAP19-8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3LI54-KR198_HUMAN
    Recommended name:
    Keratin-associated protein 19-8
    Protein Accession:
    Q3LI54

    Protein attributes for KRTAP19-8 Gene

    Size:
    63 amino acids
    Molecular mass:
    6918 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP19-8 Gene

Post-translational modifications for KRTAP19-8 Gene

No Post-translational modifications

Other Protein References for KRTAP19-8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP19-8 Gene

Domains & Families for KRTAP19-8 Gene

Gene Families for KRTAP19-8 Gene

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

Protein Domains for KRTAP19-8 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP19-8 Gene

GenScript: Design optimal peptide antigens:
  • Keratin-associated protein 19-8 (KR198_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q3LI54

UniProtKB/Swiss-Prot:

KR198_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 KRTAP19-8: view

Function for KRTAP19-8 Gene

Molecular function for KRTAP19-8 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 From GWAS Catalog for KRTAP19-8 Gene

Phenotypes for KRTAP19-8 Gene

genes like me logo Genes that share phenotypes with KRTAP19-8: 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 KRTAP19-8 Gene

Localization for KRTAP19-8 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 KRTAP19-8 gene
Compartment Confidence
cytosol 4
extracellular 3
cytoskeleton 3
nucleus 0

Gene Ontology (GO) - Cellular Components for KRTAP19-8 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 KRTAP19-8: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP19-8 Gene

Pathways & Interactions for KRTAP19-8 Gene

PathCards logo

SuperPathways for KRTAP19-8 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP19-8: view

Pathways by source for KRTAP19-8 Gene

2 Reactome pathways for KRTAP19-8 Gene

Interacting Proteins for KRTAP19-8 Gene

;

Gene Ontology (GO) - Biological Process for KRTAP19-8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP19-8: view

No data available for SIGNOR curated interactions for KRTAP19-8 Gene

Drugs & Compounds for KRTAP19-8 Gene

No Compound Related Data Available

Transcripts for KRTAP19-8 Gene

mRNA/cDNA for KRTAP19-8 Gene

1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP19-8 Gene

No ASD Table

Relevant External Links for KRTAP19-8 Gene

GeneLoc Exon Structure for
KRTAP19-8

Expression for KRTAP19-8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRTAP19-8 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRTAP19-8

SOURCE GeneReport for Unigene cluster for KRTAP19-8 Gene:

Hs.580875

Evidence on tissue expression from TISSUES for KRTAP19-8 Gene

  • Skin(4)
genes like me logo Genes that share expression patterns with KRTAP19-8: 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 KRTAP19-8 Gene

Orthologs for KRTAP19-8 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for KRTAP19-8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRTAP19-8 31 30
  • 98.94 (n)
OneToOne
Species where no ortholog for KRTAP19-8 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)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • 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)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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 KRTAP19-8 Gene

ENSEMBL:
Gene Tree for KRTAP19-8 (if available)
TreeFam:
Gene Tree for KRTAP19-8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRTAP19-8: view image

Paralogs for KRTAP19-8 Gene

No data available for Paralogs for KRTAP19-8 Gene

Variants for KRTAP19-8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRTAP19-8 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
rs7279142 - p.Ala61Thr

Additional dbSNP identifiers (rs#s) for KRTAP19-8 Gene

Structural Variations from Database of Genomic Variants (DGV) for KRTAP19-8 Gene

Variant ID Type Subtype PubMed ID
esv2762107 CNV gain 21179565
esv3575385 CNV gain 25503493
nsv587361 CNV gain 21841781

Variation tolerance for KRTAP19-8 Gene

Residual Variation Intolerance Score: 68.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.38; 8.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRTAP19-8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP19-8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP19-8 Gene

Disorders for KRTAP19-8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KRTAP19-8 Gene - From: DISEASES

Disorder Aliases PubMed IDs
three m syndrome 1
  • 3m1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KRTAP19-8

genes like me logo Genes that share disorders with KRTAP19-8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KRTAP19-8 Gene

Publications for KRTAP19-8 Gene

  1. Molecular evolution of the keratin associated protein gene family in mammals, role in the evolution of mammalian hair. (PMID: 18721477) Wu DD … Zhang YP (BMC evolutionary biology 2008) 2 3 54

Products for KRTAP19-8 Gene

Sources for KRTAP19-8 Gene