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Aliases for KRTAP9-6 Gene

Aliases for KRTAP9-6 Gene

  • Keratin Associated Protein 9-6 2 3 5
  • Keratin Associated Protein 9-Like 2 2 3
  • KRTAP9.6 3 4
  • KAP9.6 3 4
  • Putative Keratin-Associated Protein 9-2-Like 2 3
  • Keratin-Associated Protein 9-6 3
  • KRTAP9L2 3

External Ids for KRTAP9-6 Gene

Previous HGNC Symbols for KRTAP9-6 Gene

  • KRTAP9L2

Previous GeneCards Identifiers for KRTAP9-6 Gene

  • GC17U990265
  • GC17P036676
  • GC17P039421

Summaries for KRTAP9-6 Gene

GeneCards Summary for KRTAP9-6 Gene

KRTAP9-6 (Keratin Associated Protein 9-6) 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 KRTAP9-6 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 KRTAP9-6 Gene

Genomics for KRTAP9-6 Gene

Regulatory Elements for KRTAP9-6 Gene

Enhancers for KRTAP9-6 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
GH17F041338 1 Ensembl ENCODE 10.1 +75.7 75673 6.0 PKNOX1 MTA2 YBX1 EBF1 TBX21 RELA GATA3 NBN PRDM1 KRT38 KRTAP16-1 KRTAP29-1 KRT31 LOC100505782 KRTAP17-1 KRTAP9-6 KRT37 ENSG00000234477 KRT32
GH17F041336 0.5 ENCODE 10.1 +70.9 70905 0.2 NRF1 KRTAP29-1 KRTAP16-1 KRTAP17-1 KRTAP9-6 KRT37 KRT31 LOC100505782 ENSG00000234477 KRT32 RNU2-32P
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KRTAP9-6 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRTAP9-6 Gene

Chromosome:
17
Start:
41,265,339 bp from pter
End:
41,266,641 bp from pter
Size:
1,303 bases
Orientation:
Plus strand

Genomic View for KRTAP9-6 Gene

Genes around KRTAP9-6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP9-6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP9-6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP9-6 Gene

Proteins for KRTAP9-6 Gene

  • Protein details for KRTAP9-6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A8MVA2-KRA96_HUMAN
    Recommended name:
    Keratin-associated protein 9-6
    Protein Accession:
    A8MVA2

    Protein attributes for KRTAP9-6 Gene

    Size:
    160 amino acids
    Molecular mass:
    16800 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP9-6 Gene

Post-translational modifications for KRTAP9-6 Gene

No Post-translational modifications

Other Protein References for KRTAP9-6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP9-6 Gene

Domains & Families for KRTAP9-6 Gene

Gene Families for KRTAP9-6 Gene

Protein Domains for KRTAP9-6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP9-6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A8MVA2

UniProtKB/Swiss-Prot:

KRA96_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 KRTAP9-6: view

Function for KRTAP9-6 Gene

Molecular function for KRTAP9-6 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).

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRTAP9-6 Gene

Localization for KRTAP9-6 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRTAP9-6 Gene COMPARTMENTS Subcellular localization image for KRTAP9-6 gene
Compartment Confidence
cytoskeleton 2
cytosol 2
extracellular 2
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KRTAP9-6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045095 keratin filament IEA --
genes like me logo Genes that share ontologies with KRTAP9-6: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRTAP9-6 Gene

Pathways & Interactions for KRTAP9-6 Gene

SuperPathways for KRTAP9-6 Gene

SuperPathway Contained pathways
1 Developmental Biology
genes like me logo Genes that share pathways with KRTAP9-6: view

Pathways by source for KRTAP9-6 Gene

1 Reactome pathway for KRTAP9-6 Gene

Interacting Proteins for KRTAP9-6 Gene

Selected Interacting proteins: A8MVA2-KRA96_HUMAN for KRTAP9-6 Gene via IID

Gene Ontology (GO) - Biological Process for KRTAP9-6 Gene

None

No data available for SIGNOR curated interactions for KRTAP9-6 Gene

Transcripts for KRTAP9-6 Gene

mRNA/cDNA for KRTAP9-6 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP9-6 Gene

No ASD Table

Relevant External Links for KRTAP9-6 Gene

GeneLoc Exon Structure for
KRTAP9-6
ECgene alternative splicing isoforms for
KRTAP9-6

Expression for KRTAP9-6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRTAP9-6 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP9-6 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x49.2).
genes like me logo Genes that share expression patterns with KRTAP9-6: 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 KRTAP9-6 Gene

Orthologs for KRTAP9-6 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP9-6 Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Krtap9-1 35
  • 51 (a)
ManyToMany
Gm11559 35
  • 49 (a)
ManyToMany
Gm11567 35
  • 48 (a)
ManyToMany
Gm11568 35
  • 45 (a)
ManyToMany
Krtap5-1 35
  • 34 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 35
  • 42 (a)
ManyToMany
KRTAP9-1 35
  • 37 (a)
ManyToMany
Species where no ortholog for KRTAP9-6 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)
  • 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)
  • 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 KRTAP9-6 Gene

ENSEMBL:
Gene Tree for KRTAP9-6 (if available)
TreeFam:
Gene Tree for KRTAP9-6 (if available)

Paralogs for KRTAP9-6 Gene

Paralogs for KRTAP9-6 Gene

(6) SIMAP similar genes for KRTAP9-6 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KRTAP9-6: view

Variants for KRTAP9-6 Gene

Sequence variations from dbSNP and Humsavar for KRTAP9-6 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs12938692 --

Structural Variations from Database of Genomic Variants (DGV) for KRTAP9-6 Gene

Variant ID Type Subtype PubMed ID
dgv128n111 CNV deletion 26073780
dgv1465n106 CNV deletion 24896259
dgv3159n100 CNV gain 25217958
dgv3160n100 CNV gain+loss 25217958
dgv3161n100 CNV loss 25217958
dgv3162n100 CNV loss 25217958
dgv3163n100 CNV gain+loss 25217958
dgv3164n100 CNV gain 25217958
dgv3165n100 CNV gain 25217958
dgv3166n100 CNV gain+loss 25217958
dgv3167n100 CNV gain 25217958
dgv3168n100 CNV loss 25217958
dgv3169n100 CNV gain+loss 25217958
dgv525n67 CNV loss 20364138
dgv59e203 CNV loss 21179565
dgv68e180 CNV deletion 20482838
dgv921e212 CNV gain 25503493
esv23181 CNV loss 19812545
esv2486786 CNV deletion 19546169
esv2667502 CNV deletion 23128226
esv2715930 CNV deletion 23290073
esv2758690 CNV gain+loss 17122850
esv2948235 CNV deletion 24192839
esv3554424 CNV deletion 23714750
esv3584937 CNV gain 24956385
esv3640582 CNV loss 21293372
nsv1058964 CNV gain 25217958
nsv1059597 CNV loss 25217958
nsv1146669 OTHER inversion 26484159
nsv1160474 CNV deletion 26073780
nsv1160485 CNV deletion 26073780
nsv160 CNV deletion 15895083
nsv2050 CNV deletion 18451855
nsv435682 CNV deletion 17901297
nsv498871 CNV loss 21111241
nsv510710 CNV deletion 20534489
nsv512486 CNV loss 21212237
nsv575028 CNV gain 21841781
nsv819392 CNV loss 19587683
nsv953896 CNV deletion 24416366
nsv9551 CNV loss 18304495

Variation tolerance for KRTAP9-6 Gene

Residual Variation Intolerance Score: 61.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.08; 80.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRTAP9-6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP9-6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP9-6 Gene

Disorders for KRTAP9-6 Gene

Relevant External Links for KRTAP9-6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP9-6

No disorders were found for KRTAP9-6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP9-6 Gene

Publications for KRTAP9-6 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. 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 KRTAP9-6 Gene

Sources for KRTAP9-6 Gene

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