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Aliases for KRTAP13-1 Gene

Aliases for KRTAP13-1 Gene

  • Keratin Associated Protein 13-1 2 3 5
  • KRTAP13.1 3 4
  • KAP13.1 3 4
  • High Sulfur Keratin Associated Protein 13.1 3
  • High Sulfur Keratin-Associated Protein 13.1 4
  • Keratin-Associated Protein 13-1 3

External Ids for KRTAP13-1 Gene

Previous GeneCards Identifiers for KRTAP13-1 Gene

  • GC21P028428
  • GC21P030688
  • GC21P030690
  • GC21P031768
  • GC21P017177

Summaries for KRTAP13-1 Gene

Entrez Gene Summary for KRTAP13-1 Gene

  • Hair keratins and hair keratin-associated proteins (KAPs), such as KRTAP13-1, are the main structural proteins of hair fibers (Rogers et al., 2002 [PubMed 12359730]).[supplied by OMIM, Mar 2008]

GeneCards Summary for KRTAP13-1 Gene

KRTAP13-1 (Keratin Associated Protein 13-1) is a Protein Coding gene. Among its related pathways are Developmental Biology. An important paralog of this gene is KRTAP13-2.

UniProtKB/Swiss-Prot for KRTAP13-1 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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP13-1 Gene

Genomics for KRTAP13-1 Gene

Regulatory Elements for KRTAP13-1 Gene

Enhancers for KRTAP13-1 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
GH21F030088 0.3 FANTOM5 1.4 -307.6 -307633 0.4 KRTAP23-1 KRTAP19-7 KRTAP27-1 KRTAP15-1 KRTAP13-3 KRTAP25-1 KRTAP19-4 KRTAP19-2 KRTAP19-6 KRTAP13-4
GH21F030408 0.7 ENCODE 0.4 +12.9 12944 0.2 SIX4 CTCF PKNOX1 MAX SIN3A RAD21 FOXK2 POLR2A SCRT2 SCRT1 KRTAP13-4 KRTAP13-1 KRTAP13-3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KRTAP13-1 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRTAP13-1 Gene

Chromosome:
21
Start:
30,396,074 bp from pter
End:
30,396,822 bp from pter
Size:
749 bases
Orientation:
Plus strand

Genomic View for KRTAP13-1 Gene

Genes around KRTAP13-1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP13-1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP13-1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP13-1 Gene

Proteins for KRTAP13-1 Gene

  • Protein details for KRTAP13-1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IUC0-KR131_HUMAN
    Recommended name:
    Keratin-associated protein 13-1
    Protein Accession:
    Q8IUC0
    Secondary Accessions:
    • Q14D20
    • Q3LI79

    Protein attributes for KRTAP13-1 Gene

    Size:
    172 amino acids
    Molecular mass:
    18320 Da
    Quaternary structure:
    • Interacts with hair keratins.
    SequenceCaution:
    • Sequence=AAI13537.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI13539.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for KRTAP13-1 Gene

Post-translational modifications for KRTAP13-1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRTAP13-1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP13-1 Gene

Domains & Families for KRTAP13-1 Gene

Gene Families for KRTAP13-1 Gene

Protein Domains for KRTAP13-1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP13-1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IUC0

UniProtKB/Swiss-Prot:

KR131_HUMAN :
  • Belongs to the PMG family.
Family:
  • Belongs to the PMG family.
genes like me logo Genes that share domains with KRTAP13-1: view

Function for KRTAP13-1 Gene

Molecular function for KRTAP13-1 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 KRTAP13-1 Gene

genes like me logo Genes that share phenotypes with KRTAP13-1: view

Animal Model Products

Clone Products

Flow Cytometry 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 KRTAP13-1 Gene

Localization for KRTAP13-1 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 KRTAP13-1 gene
Compartment Confidence
cytosol 5
cytoskeleton 3
extracellular 2
mitochondrion 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KRTAP13-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005882 intermediate filament IEA --
genes like me logo Genes that share ontologies with KRTAP13-1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRTAP13-1 Gene

Pathways & Interactions for KRTAP13-1 Gene

SuperPathways for KRTAP13-1 Gene

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

Pathways by source for KRTAP13-1 Gene

1 Reactome pathway for KRTAP13-1 Gene

Gene Ontology (GO) - Biological Process for KRTAP13-1 Gene

None

No data available for SIGNOR curated interactions for KRTAP13-1 Gene

Transcripts for KRTAP13-1 Gene

mRNA/cDNA for KRTAP13-1 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP13-1 Gene

No ASD Table

Relevant External Links for KRTAP13-1 Gene

GeneLoc Exon Structure for
KRTAP13-1
ECgene alternative splicing isoforms for
KRTAP13-1

Expression for KRTAP13-1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRTAP13-1 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP13-1 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x47.9) and Skin - Sun Exposed (Lower leg) (x4.0).

Protein differential expression in normal tissues from HIPED for KRTAP13-1 Gene

This gene is overexpressed in Hair follicle (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KRTAP13-1 Gene



Protein tissue co-expression partners for KRTAP13-1 Gene

SOURCE GeneReport for Unigene cluster for KRTAP13-1 Gene:

Hs.407653

mRNA Expression by UniProt/SwissProt for KRTAP13-1 Gene:

Q8IUC0-KR131_HUMAN
Tissue specificity: Weak expression seen in the late matrix and entire cortex area of the hair follicle.
genes like me logo Genes that share expression patterns with KRTAP13-1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for KRTAP13-1 Gene

Orthologs for KRTAP13-1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP13-1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRTAP13-1 34 35
  • 99.22 (n)
cow
(Bos Taurus)
Mammalia KRTAP13-2 34
  • 79.33 (n)
-- 35
  • 65 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia LOC100363184 34
  • 78.11 (n)
mouse
(Mus musculus)
Mammalia Krtap13-1 34 16
  • 76.71 (n)
2310061N02Rik 35
  • 56 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 35
  • 71 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 55 (a)
ManyToMany
-- 35
  • 50 (a)
ManyToMany
-- 35
  • 49 (a)
ManyToMany
-- 35
  • 46 (a)
ManyToMany
-- 35
  • 41 (a)
ManyToMany
Species where no ortholog for KRTAP13-1 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)
  • 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)
  • 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 KRTAP13-1 Gene

ENSEMBL:
Gene Tree for KRTAP13-1 (if available)
TreeFam:
Gene Tree for KRTAP13-1 (if available)

Paralogs for KRTAP13-1 Gene

Paralogs for KRTAP13-1 Gene

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

Pseudogenes.org Pseudogenes for KRTAP13-1 Gene

genes like me logo Genes that share paralogs with KRTAP13-1: view

Variants for KRTAP13-1 Gene

Sequence variations from dbSNP and Humsavar for KRTAP13-1 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs1004044 -- 30,394,669(+) AGAGG(C/T)GCACA intron-variant, upstream-variant-2KB
rs1010682 -- 30,396,491(+) GGCTG(A/T)GGCTT intron-variant, reference, stop-gained
rs112520495 -- 30,397,307(+) AAAGT(G/T)ATTTG intron-variant
rs112672301 -- 30,395,401(+) TTCTA(-/C)TTTCC intron-variant, upstream-variant-2KB
rs113178758 -- 30,396,102(+) ACTGC(C/T)GCTCT intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for KRTAP13-1 Gene

Variant ID Type Subtype PubMed ID
esv3646827 CNV gain 21293372
nsv1057467 CNV gain 25217958
nsv1060328 CNV loss 25217958
nsv587354 CNV gain 21841781
nsv587357 CNV loss 21841781

Variation tolerance for KRTAP13-1 Gene

Residual Variation Intolerance Score: 69.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.34; 41.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRTAP13-1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP13-1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP13-1 Gene

Disorders for KRTAP13-1 Gene

Relevant External Links for KRTAP13-1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP13-1

No disorders were found for KRTAP13-1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP13-1 Gene

Publications for KRTAP13-1 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 64
  2. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M. … Yaspo M.-L. (Nature 2000) 3 4 64
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64
  5. 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

Products for KRTAP13-1 Gene

Sources for KRTAP13-1 Gene

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