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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
  • KRTAP9L3 3 4
  • KAP9.1 3 4
  • Putative Keratin-Associated Protein 9-2-Like 3 3
  • Keratin-Associated Protein 9-Like 3 4
  • Keratin-Associated Protein 9-1 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 Keratinization and 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).

Additional gene information for KRTAP9-1 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 KRTAP9-1 Gene

Genomics for KRTAP9-1 Gene

GeneHancer (GH) Regulatory Elements for KRTAP9-1 Gene

Promoters and enhancers for KRTAP9-1 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
GH17I041499 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 5.2 +310.4 310386 1.3 HDGF HDAC1 PKNOX1 SMAD1 TCF12 POLR2B ZNF766 EGR1 FOS ATF7 ENSG00000229732 KRTAP2-1 KRTAP9-2 KRT38 KRTAP2-2 KRTAP9-1 KRTAP9-9 KRT34 KRT37 KRTAP2-4
GH17I041352 Enhancer 0.7 FANTOM5 dbSUPER 9.3 +163.3 163272 0.3 ZNF629 TSHZ1 REST KRTAP2-1 KRTAP9-1 KRTAP2-2 KRTAP9-2 KRTAP9-9 KRT37 KRT40 KRTAP2-4 KRT35 KRT38
GH17I041534 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 4.8 +347.4 347356 5.4 PKNOX1 CLOCK FOXA2 NFIB NEUROD1 SIN3A NFXL1 BMI1 ZBTB7B ZNF121 ENSG00000267758 SMARCE1 KRT36 STAT5A KRT35 GHDC NAGLU KRT31 LOC100505782 KRT19
GH17I041518 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 1.7 +335.4 335367 13.6 HDGF PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZBTB7B KRT19 KRT15 ENSG00000267758 SMARCE1 ACLY DHX58 KRT36 ENSG00000259623 KRT14 STAT5A
GH17I041557 Enhancer 0.2 FANTOM5 12.7 +367.5 367457 0.4 GC17M041544 KRTAP9-2 KRTAP9-1 KRTAP9-9 KRT16 KRT37 KRTAP2-4 KRT38 KRT35 KRT9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

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

Genomic Locations for KRTAP9-1 Gene

Genomic Locations for KRTAP9-1 Gene
chr17:41,189,887-41,190,639
(GRCh38/hg38)
Size:
753 bases
Orientation:
Plus strand
chr17:39,344,697-39,346,891
(GRCh37/hg19)

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

No Post-translational modifications

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

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

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

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 KRTAP9-1 Gene

Localization for KRTAP9-1 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 KRTAP9-1 gene
Compartment Confidence
cytosol 5
extracellular 2
cytoskeleton 2
peroxisome 1
nucleus 1

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
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 and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP9-1 Gene

Pathways & Interactions for KRTAP9-1 Gene

SuperPathways for KRTAP9-1 Gene

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

Pathways by source for KRTAP9-1 Gene

2 Reactome pathways for KRTAP9-1 Gene

Interacting Proteins for KRTAP9-1 Gene

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP9-1: view

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

Drugs & Compounds for KRTAP9-1 Gene

No Compound Related Data Available

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 98.83 (n)
KRTAP9-1 34
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100364862 33
  • 71.09 (n)
mouse
(Mus musculus)
Mammalia Krtap9-5 33 16
  • 68.71 (n)
Krtap9-1 34
  • 59 (a)
ManyToMany
Gm11559 34
  • 57 (a)
ManyToMany
Gm11567 34
  • 55 (a)
ManyToMany
Gm11568 34
  • 52 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 34
  • 48 (a)
ManyToMany
KRTAP9-1 34
  • 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 Variation AA Info Type
rs1001619271 -- 41,189,706(+) C/T upstream_transcript_variant
rs1001681128 -- 41,188,025(+) G/A upstream_transcript_variant
rs1001774289 -- 41,188,340(+) A/G upstream_transcript_variant
rs1001944292 -- 41,189,872(+) T/G upstream_transcript_variant
rs1002021992 -- 41,189,083(+) G/A/C upstream_transcript_variant

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)

Additional Variant Information 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

Additional Disease Information for 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 MC … Nusbaum C (Nature 2006) 3 4 58
  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 FM (Molecular & cellular proteomics : MCP 2015) 3 58
  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 MA … Schweizer J (The Journal of biological chemistry 2001) 3 58

Products for KRTAP9-1 Gene

Sources for KRTAP9-1 Gene

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