Aliases for KRTAP9-6 Gene

Aliases for KRTAP9-6 Gene

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

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. Diseases associated with KRTAP9-6 include Three M Syndrome 1. Among its related pathways are Developmental Biology and Keratinization. An important paralog of this gene is KRTAP9-2.

UniProtKB/Swiss-Prot Summary 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).

Additional gene information for KRTAP9-6 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRTAP9-6 Gene

Genomics for KRTAP9-6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KRTAP9-6 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
GH17J041333 Enhancer 0.9 Ensembl ENCODE dbSUPER 10.1 +73.5 73549 10.2 MAFF EBF1 YBX1 BHLHE40 SPI1 ZNF416 ZNF24 NRF1 PKNOX1 MTA2 HSALNG0116426 KRT34 KRT38 KRT32 KRTAP16-1 KRTAP29-1 KRT31 LOC100505782 KRTAP17-1 KRTAP9-6
GH17J041211 Enhancer 0.6 Ensembl 10.9 -52.8 -52798 1.5 ZIC2 PRDM6 JUND SCRT1 MNT ZNF629 NFE2L2 FOS MAFK RFX5 KRTAP9-12P lnc-KRTAP9-2-1 KRTAP4-17P KRTAP9-1 KRTAP4-1 KRTAP4-2 KRTAP4-3 KRTAP4-4 KRTAP9-6 KRTAP2-5P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRTAP9-6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRTAP9-6

Genomic Locations for KRTAP9-6 Gene

Latest Assembly
chr17:41,265,339-41,266,641
(GRCh38/hg38)
Size:
1,303 bases
Orientation:
Plus strand

Previous Assembly
chr17:39,421,630-39,422,112
(GRCh37/hg19 by Entrez Gene)
Size:
483 bases
Orientation:
Plus strand

chr17:39,421,591-39,422,893
(GRCh37/hg19 by Ensembl)
Size:
1,303 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr17(ALT_REF_LOCI_1):30,906-31,430 (-)
  • chr17(ALT_REF_LOCI_2):41,250-41,732 (-)

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

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

Protein Domains for KRTAP9-6 Gene

InterPro:

Suggested Antigen Peptide Sequences for KRTAP9-6 Gene

GenScript: Design optimal peptide antigens:
  • Keratin-associated protein 9-6 (KRA96_HUMAN)

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).

Phenotypes From GWAS Catalog for KRTAP9-6 Gene

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP9-6

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

Localization for KRTAP9-6 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 KRTAP9-6 gene
Compartment Confidence
cytosol 4
cytoskeleton 2

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP9-6 Gene

Pathways & Interactions for KRTAP9-6 Gene

PathCards logo

SuperPathways for KRTAP9-6 Gene

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

Pathways by source for KRTAP9-6 Gene

2 Reactome pathways for KRTAP9-6 Gene

Interacting Proteins for KRTAP9-6 Gene

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP9-6: view

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

Drugs & Compounds for KRTAP9-6 Gene

No Compound Related Data Available

Transcripts for KRTAP9-6 Gene

mRNA/cDNA for KRTAP9-6 Gene

1 REFSEQ mRNAs :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP9-6

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

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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30
  • 51 (a)
ManyToMany
Gm11559 30
  • 49 (a)
ManyToMany
Gm11567 30
  • 48 (a)
ManyToMany
Gm11568 30
  • 45 (a)
ManyToMany
Krtap5-1 30
  • 34 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia -- 30
  • 42 (a)
ManyToMany
KRTAP9-1 30
  • 37 (a)
ManyToMany
Species where no ortholog for KRTAP9-6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for KRTAP9-6: view image
Alliance of Genome Resources:
Additional Orthologs for KRTAP9-6

Paralogs for KRTAP9-6 Gene

Variants for KRTAP9-6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRTAP9-6 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs12938692 -- p.Tyr86Cys

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KRTAP9-6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for KRTAP9-6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP9-6
Leiden Open Variation Database (LOVD)
KRTAP9-6

SNP Genotyping and Copy Number Assays for research

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

Disorders for KRTAP9-6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KRTAP9-6 Gene - From: COP

Disorder Aliases PubMed IDs
three m syndrome 1
  • 3m1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KRTAP9-6

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

No data available for 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 MC … Nusbaum C (Nature 2006) 3 4
  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 MA … Schweizer J (The Journal of biological chemistry 2001) 3

Products for KRTAP9-6 Gene

Sources for KRTAP9-6 Gene