Aliases for KRTAP13-4 Gene

Aliases for KRTAP13-4 Gene

  • Keratin Associated Protein 13-4 2 3 5
  • Keratin-Associated Protein 13-4 3 4
  • KAP13.4 3 4

External Ids for KRTAP13-4 Gene

Previous GeneCards Identifiers for KRTAP13-4 Gene

  • GC21P028458
  • GC21U900072
  • GC21P030723
  • GC21P030724
  • GC21P031802
  • GC21P017211

Summaries for KRTAP13-4 Gene

GeneCards Summary for KRTAP13-4 Gene

KRTAP13-4 (Keratin Associated Protein 13-4) is a Protein Coding gene. Diseases associated with KRTAP13-4 include Atypical Neurofibroma. Among its related pathways are Keratinization and Developmental Biology. An important paralog of this gene is KRTAP13-1.

UniProtKB/Swiss-Prot Summary for KRTAP13-4 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 KRTAP13-4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRTAP13-4 Gene

Genomics for KRTAP13-4 Gene

GeneHancer (GH) Regulatory Elements for KRTAP13-4 Gene

Promoters and enhancers for KRTAP13-4 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
GH21J030429 Enhancer 0.2 Ensembl 500.7 -0.3 -329 0.2 KRTAP13-4 KRTAP13-3 LOC105372772
GH21J030408 Enhancer 0.7 ENCODE 11.6 -21.2 -21212 0.2 CTCF TRIM28 RFX1 POLR2A ZBTB17 TCF12 ZBTB11 SIX4 FOXA1 PKNOX1 KRTAP13-4 KRTAP13-1 KRTAP13-3 LOC105372772
GH21J030349 Enhancer 0.3 Ensembl 10.5 -80.2 -80229 0.8 EP300 FOS KRTAP23-1 KRTAP13-2 KRTAP13-3 KRTAP13-4 KRTAP21-2 CLDN8 KRTAP13-6P lnc-KRTAP23-1-1
GH21J030060 Enhancer 0.2 FANTOM5 6 -369.8 -369777 0.2 RF01045-086 KRTAP13-4 KRTAP19-2 KRTAP25-1 KRTAP23-1 piR-56580-029
GH21J030426 Enhancer 0.6 Ensembl ENCODE 0.7 -3.7 -3662 1.1 TEAD4 YY1 EP300 SP1 KRTAP13-3 KRTAP13-4 LOC105372772
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRTAP13-4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRTAP13-4

Top Transcription factor binding sites by QIAGEN in the KRTAP13-4 gene promoter:
  • AML1a
  • Bach1
  • HNF-3beta
  • Lmo2
  • Nkx2-5
  • RFX1
  • S8

Genomic Locations for KRTAP13-4 Gene

Genomic Locations for KRTAP13-4 Gene
chr21:30,430,230-30,431,026
(GRCh38/hg38)
Size:
797 bases
Orientation:
Plus strand
chr21:31,802,572-31,803,216
(GRCh37/hg19)
Size:
645 bases
Orientation:
Plus strand

Genomic View for KRTAP13-4 Gene

Genes around KRTAP13-4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP13-4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP13-4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP13-4 Gene

Proteins for KRTAP13-4 Gene

  • Protein details for KRTAP13-4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3LI77-KR134_HUMAN
    Recommended name:
    Keratin-associated protein 13-4
    Protein Accession:
    Q3LI77
    Secondary Accessions:
    • A2RRL3

    Protein attributes for KRTAP13-4 Gene

    Size:
    160 amino acids
    Molecular mass:
    17755 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP13-4 Gene

Post-translational modifications for KRTAP13-4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRTAP13-4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP13-4 Gene

Domains & Families for KRTAP13-4 Gene

Gene Families for KRTAP13-4 Gene

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

Protein Domains for KRTAP13-4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP13-4 Gene

GenScript: Design optimal peptide antigens:
  • Keratin-associated protein 13-4 (KR134_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q3LI77

UniProtKB/Swiss-Prot:

KR134_HUMAN :
  • Belongs to the PMG family.
Family:
  • Belongs to the PMG family.
genes like me logo Genes that share domains with KRTAP13-4: view

Function for KRTAP13-4 Gene

Molecular function for KRTAP13-4 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 KRTAP13-4: view

Animal Model Products

CRISPR Products

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 KRTAP13-4 Gene

Localization for KRTAP13-4 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 KRTAP13-4 gene
Compartment Confidence
cytosol 4
cytoskeleton 3
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KRTAP13-4 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 KRTAP13-4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP13-4 Gene

Pathways & Interactions for KRTAP13-4 Gene

PathCards logo

SuperPathways for KRTAP13-4 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP13-4: view

Pathways by source for KRTAP13-4 Gene

2 Reactome pathways for KRTAP13-4 Gene

Interacting Proteins for KRTAP13-4 Gene

;

Gene Ontology (GO) - Biological Process for KRTAP13-4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP13-4: view

No data available for SIGNOR curated interactions for KRTAP13-4 Gene

Drugs & Compounds for KRTAP13-4 Gene

No Compound Related Data Available

Transcripts for KRTAP13-4 Gene

mRNA/cDNA for KRTAP13-4 Gene

1 REFSEQ mRNAs :
2 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 KRTAP13-4 Gene

No ASD Table

Relevant External Links for KRTAP13-4 Gene

GeneLoc Exon Structure for
KRTAP13-4

Expression for KRTAP13-4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRTAP13-4 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP13-4 Gene

This gene is overexpressed in Adipose - Subcutaneous (x23.3), Adipose - Visceral (Omentum) (x11.8), and Skin - Sun Exposed (Lower leg) (x4.1).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRTAP13-4

SOURCE GeneReport for Unigene cluster for KRTAP13-4 Gene:

Hs.553677

Evidence on tissue expression from TISSUES for KRTAP13-4 Gene

  • Skin(4)
genes like me logo Genes that share expression patterns with KRTAP13-4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 KRTAP13-4 Gene

Orthologs for KRTAP13-4 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP13-4 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia -- 31
  • 61 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 31
  • 54 (a)
OneToMany
mouse
(Mus musculus)
Mammalia 4930553J12Rik 31
  • 46 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 44 (a)
ManyToMany
-- 31
  • 43 (a)
ManyToMany
-- 31
  • 41 (a)
ManyToMany
-- 31
  • 38 (a)
ManyToMany
-- 31
  • 35 (a)
ManyToMany
Species where no ortholog for KRTAP13-4 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • 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 KRTAP13-4 Gene

ENSEMBL:
Gene Tree for KRTAP13-4 (if available)
TreeFam:
Gene Tree for KRTAP13-4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRTAP13-4: view image

Paralogs for KRTAP13-4 Gene

(3) SIMAP similar genes for KRTAP13-4 Gene using alignment to 1 proteins:

  • KR134_HUMAN
genes like me logo Genes that share paralogs with KRTAP13-4: view

Variants for KRTAP13-4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRTAP13-4 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
rs2226548 - p.Ala59Thr
rs999597 - p.Arg154His

Additional dbSNP identifiers (rs#s) for KRTAP13-4 Gene

Structural Variations from Database of Genomic Variants (DGV) for KRTAP13-4 Gene

Variant ID Type Subtype PubMed ID
nsv1057467 CNV gain 25217958
nsv1060328 CNV loss 25217958
nsv587354 CNV gain 21841781
nsv587357 CNV loss 21841781

Variation tolerance for KRTAP13-4 Gene

Residual Variation Intolerance Score: 85.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.87; 34.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRTAP13-4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP13-4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP13-4 Gene

Disorders for KRTAP13-4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KRTAP13-4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
atypical neurofibroma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KRTAP13-4

genes like me logo Genes that share disorders with KRTAP13-4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KRTAP13-4 Gene

Publications for KRTAP13-4 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 54
  2. Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters. (PMID: 20494980) Warnatz HJ … Yaspo ML (Nucleic acids research 2010) 3 54
  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 54
  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 54

Products for KRTAP13-4 Gene

Sources for KRTAP13-4 Gene