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Aliases for KRTAP9-1 Gene

Aliases for KRTAP9-1 Gene

  • Keratin Associated Protein 9-1 2 3 5
  • Keratin Associated Protein 9-Like 3 2 3
  • KAP9.1 3 4
  • Putative Keratin-Associated Protein 9-2-Like 3 3
  • Keratin-Associated Protein 9-1 3
  • KRTAP9L3 3
  • KRTAP9.1 4

External Ids for KRTAP9-1 Gene

Previous HGNC Symbols for KRTAP9-1 Gene

  • KRTAP9L3

Previous GeneCards Identifiers for KRTAP9-1 Gene

  • GC17U900021
  • GC17P036598
  • GC17P039346
  • GC17P035121
  • GC17P039344

Summaries for KRTAP9-1 Gene

GeneCards Summary for KRTAP9-1 Gene

KRTAP9-1 (Keratin Associated Protein 9-1) is a Protein Coding gene. Among its related pathways are Developmental Biology. An important paralog of this gene is KRTAP9-2.

UniProtKB/Swiss-Prot for KRTAP9-1 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 (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP9-1 Gene

Genomics for KRTAP9-1 Gene

Regulatory Elements for KRTAP9-1 Gene

Enhancers for KRTAP9-1 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
GH17F041557 0.4 FANTOM5 12.7 +367.5 367458 0.4 KRTAP9-2 KRTAP9-1 KRTAP9-9 KRT16 KRT37 KRTAP2-4 KRT38 KRT35 GC17M041544 KRT9
GH17F041352 0.7 FANTOM5 9.3 +163.3 163272 0.3 ZNF121 MIER1 EHMT2 REST TSHZ1 MAFK ENSG00000259623 KRTAP2-1 KRTAP9-1 KRTAP2-2 KRTAP9-2 KRTAP9-9 KRT37 KRT40 KRTAP2-4 KRT35
GH17F041496 1.3 FANTOM5 Ensembl ENCODE 5.2 +308.8 308798 4.6 HDGF PKNOX1 CREB3L1 ARID4B ZNF2 ZNF143 FOS ZNF263 SP5 REST KRT32 KRTAP2-1 KRT31 KRT38 KRTAP9-2 KRTAP2-2 KRTAP9-1 KRTAP9-9 LOC100505782 KRT34
GH17F041534 1.2 FANTOM5 Ensembl ENCODE 4.8 +347.4 347356 5.4 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF121 ZNF207 KRT36 KRT35 KRT31 LOC100505782 KRT19 KRTAP2-1 KRTAP2-2 KRTAP9-1 KRTAP9-2 KRTAP9-9
GH17F041518 1.3 FANTOM5 Ensembl ENCODE 1.7 +335.4 335368 13.6 MLX CREB3L1 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 ENSG00000259623 KAT2A KRT19 P3H4 DHX58 KRT36 KRT14 ENSG00000267758 STAT5B LOC100505782
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KRTAP9-1 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRTAP9-1 Gene

Chromosome:
17
Start:
41,189,887 bp from pter
End:
41,190,639 bp from pter
Size:
753 bases
Orientation:
Plus strand

Genomic View for KRTAP9-1 Gene

Genes around KRTAP9-1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP9-1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP9-1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP9-1 Gene

Proteins for KRTAP9-1 Gene

  • Protein details for KRTAP9-1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A8MXZ3-KRA91_HUMAN
    Recommended name:
    Keratin-associated protein 9-1
    Protein Accession:
    A8MXZ3

    Protein attributes for KRTAP9-1 Gene

    Size:
    250 amino acids
    Molecular mass:
    26333 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP9-1 Gene

Post-translational modifications for KRTAP9-1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRTAP9-1 Gene

No data available for DME Specific Peptides for KRTAP9-1 Gene

Domains & Families for KRTAP9-1 Gene

Gene Families for KRTAP9-1 Gene

Protein Domains for KRTAP9-1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP9-1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A8MXZ3

UniProtKB/Swiss-Prot:

KRA91_HUMAN :
  • Belongs to the KRTAP type 9 family.
Family:
  • Belongs to the KRTAP type 9 family.
genes like me logo Genes that share domains with KRTAP9-1: view

Function for KRTAP9-1 Gene

Molecular function for KRTAP9-1 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 (By similarity).

Phenotypes for KRTAP9-1 Gene

genes like me logo Genes that share phenotypes with KRTAP9-1: view

Animal Model 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 KRTAP9-1 Gene

Localization for KRTAP9-1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRTAP9-1 Gene COMPARTMENTS Subcellular localization image for KRTAP9-1 gene
Compartment Confidence
cytoskeleton 2
cytosol 2
extracellular 2
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KRTAP9-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045095 keratin filament IEA --
genes like me logo Genes that share ontologies with KRTAP9-1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRTAP9-1 Gene

Pathways & Interactions for KRTAP9-1 Gene

SuperPathways for KRTAP9-1 Gene

SuperPathway Contained pathways
1 Developmental Biology
genes like me logo Genes that share pathways with KRTAP9-1: view

Pathways by source for KRTAP9-1 Gene

1 Reactome pathway for KRTAP9-1 Gene

Interacting Proteins for KRTAP9-1 Gene

Gene Ontology (GO) - Biological Process for KRTAP9-1 Gene

None

No data available for SIGNOR curated interactions for KRTAP9-1 Gene

Transcripts for KRTAP9-1 Gene

mRNA/cDNA for KRTAP9-1 Gene

(2) REFSEQ mRNAs :
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP9-1 Gene

No ASD Table

Relevant External Links for KRTAP9-1 Gene

GeneLoc Exon Structure for
KRTAP9-1
ECgene alternative splicing isoforms for
KRTAP9-1

Expression for KRTAP9-1 Gene

mRNA expression in normal human tissues for KRTAP9-1 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP9-1 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x37.5), Colon - Transverse (x7.8), and Skin - Sun Exposed (Lower leg) (x7.7).

SOURCE GeneReport for Unigene cluster for KRTAP9-1 Gene:

Hs.727478
genes like me logo Genes that share expression patterns with KRTAP9-1: 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 and mRNA Expression by UniProt/SwissProt for KRTAP9-1 Gene

Orthologs for KRTAP9-1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP9-1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC100613989 34
  • 98.83 (n)
KRTAP9-1 35
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100364862 34
  • 71.09 (n)
mouse
(Mus musculus)
Mammalia Krtap9-5 34 16
  • 68.71 (n)
Krtap9-1 35
  • 59 (a)
ManyToMany
Gm11559 35
  • 57 (a)
ManyToMany
Gm11567 35
  • 55 (a)
ManyToMany
Gm11568 35
  • 52 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 35
  • 48 (a)
ManyToMany
KRTAP9-1 35
  • 43 (a)
ManyToMany
Species where no ortholog for KRTAP9-1 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 KRTAP9-1 Gene

ENSEMBL:
Gene Tree for KRTAP9-1 (if available)
TreeFam:
Gene Tree for KRTAP9-1 (if available)

Paralogs for KRTAP9-1 Gene

Paralogs for KRTAP9-1 Gene

(10) SIMAP similar genes for KRTAP9-1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with KRTAP9-1: view

Variants for KRTAP9-1 Gene

Sequence variations from dbSNP and Humsavar for KRTAP9-1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs112783535 -- 41,190,380(+) CCACC(C/T)AACAT intron-variant, reference, missense
rs11283848 -- 41,190,343(+) CACCT(-/A)GCTGT intron-variant, reference, frameshift-variant
rs114012119 -- 41,188,587(+) CGTCC(C/T)GTTTG upstream-variant-2KB
rs115929753 -- 41,189,424(+) CATCA(C/T)TCTGG upstream-variant-2KB
rs117856200 -- 41,188,108(+) TAAGA(C/T)TCTAT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for KRTAP9-1 Gene

Variant ID Type Subtype PubMed ID
esv2758690 CNV gain+loss 17122850
nsv1146669 OTHER inversion 26484159
nsv833446 CNV gain 17160897

Variation tolerance for KRTAP9-1 Gene

Residual Variation Intolerance Score: 91.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.75; 78.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRTAP9-1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP9-1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP9-1 Gene

Disorders for KRTAP9-1 Gene

Relevant External Links for KRTAP9-1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP9-1

No disorders were found for KRTAP9-1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP9-1 Gene

Publications for KRTAP9-1 Gene

  1. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody M.C. … Nusbaum C. (Nature 2006) 3 4 64
  2. Quantitative Proteomics Reveals Dynamic Interactions of the Minichromosome Maintenance Complex (MCM) in the Cellular Response to Etoposide Induced DNA Damage. (PMID: 25963833) Drissi R. … Boisvert F.M. (Mol. Cell Proteomics 2015) 3 64
  3. Characterization of a cluster of human high/ultrahigh sulfur keratin- associated protein genes embedded in the type I keratin gene domain on chromosome 17q12-21. (PMID: 11279113) Rogers M.A. … Schweizer J. (J. Biol. Chem. 2001) 3 64

Products for KRTAP9-1 Gene

Sources for KRTAP9-1 Gene

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