Aliases for KRTAP9-7 Gene

Aliases for KRTAP9-7 Gene

  • Keratin Associated Protein 9-7 2 3 5
  • KAP9.7 2 3 4
  • Keratin Associated Protein 9-Like 1 2 3
  • Keratin-Associated Protein 9-7 3 4
  • KRTAP9L1 3 4
  • Putative Keratin-Associated Protein 9-2-Like 1 3
  • Keratin-Associated Protein 9-Like 1 4
  • KRTAP9-7 5
  • KRTAP9.7 4

External Ids for KRTAP9-7 Gene

Previous HGNC Symbols for KRTAP9-7 Gene

  • KRTAP9L1

Previous GeneCards Identifiers for KRTAP9-7 Gene

  • GC17U990264
  • GC17P036687
  • GC17P039431

Summaries for KRTAP9-7 Gene

GeneCards Summary for KRTAP9-7 Gene

KRTAP9-7 (Keratin Associated Protein 9-7) is a Protein Coding gene. Diseases associated with KRTAP9-7 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 KRTAP9-7 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 , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRTAP9-7 Gene

Genomics for KRTAP9-7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KRTAP9-7 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J040306 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.7 -958.1 -958134 22.8 BCLAF1 SP1 ZNF207 NCOR1 ZNF654 ZNF600 IKZF1 MYC JUND ZNF580 RARA MED1 SMARCE1 CDK12 SNORD124 MED24 MSL1 KRT10-AS1 CDC6 WIPF2
GH17J041286 Enhancer 0.5 Ensembl 0.4 +11.4 11442 1.4 MAFF NFE2 MAFK NFE2L2 ELF3 CEBPB HLF CEBPG KRTAP16-1 ENSG00000234477 KRTAP3-2 KRT34 KRT36 CNP piR-31534-287 KRTAP9-7 KRTAP29-1 lnc-KRTAP9-7-5
GH17J041301 Enhancer 0.4 Ensembl 0.3 +27.0 27042 2.6 POLR2A RFX1 ZNF558 KRTAP29-1 KRT34 KRT36 KRT31 piR-31534-287 HSALNG0116424 KRTAP9-7
GH17J041283 Enhancer 0.2 Ensembl 0.4 +8.9 8942 2 KRTAP16-1 KRT38 ENSG00000234477 KRTAP3-2 KRT31 KRT36 TOP2A piR-31534-287 KRTAP9-7 KRTAP29-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRTAP9-7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRTAP9-7

Genomic Locations for KRTAP9-7 Gene

Latest Assembly
1,039 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
510 bases
Plus strand

(GRCh37/hg19 by Ensembl)
1,039 bases
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr17(ALT_REF_LOCI_2):30,903-31,412 (-)

Genomic View for KRTAP9-7 Gene

Genes around KRTAP9-7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP9-7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP9-7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP9-7 Gene

Proteins for KRTAP9-7 Gene

  • Protein details for KRTAP9-7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Keratin-associated protein 9-7
    Protein Accession:

    Protein attributes for KRTAP9-7 Gene

    169 amino acids
    Molecular mass:
    17793 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP9-7 Gene

Post-translational modifications for KRTAP9-7 Gene

No Post-translational modifications

Other Protein References for KRTAP9-7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP9-7 Gene

Domains & Families for KRTAP9-7 Gene

Gene Families for KRTAP9-7 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KRTAP9-7 Gene


Suggested Antigen Peptide Sequences for KRTAP9-7 Gene

GenScript: Design optimal peptide antigens:
  • Keratin-associated protein 9-7 (KRA97_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the KRTAP type 9 family.
  • Belongs to the KRTAP type 9 family.
genes like me logo Genes that share domains with KRTAP9-7: view

Function for KRTAP9-7 Gene

Molecular function for KRTAP9-7 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 KRTAP9-7 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP9-7

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 KRTAP9-7 Gene

Localization for KRTAP9-7 Gene

Subcellular locations from

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 KRTAP9-7 gene
Compartment Confidence
cytosol 4
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for KRTAP9-7 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 KRTAP9-7: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP9-7 Gene

Pathways & Interactions for KRTAP9-7 Gene

PathCards logo

SuperPathways for KRTAP9-7 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP9-7: view

Pathways by source for KRTAP9-7 Gene

2 Reactome pathways for KRTAP9-7 Gene

Interacting Proteins for KRTAP9-7 Gene

Gene Ontology (GO) - Biological Process for KRTAP9-7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP9-7: view

No data available for SIGNOR curated interactions for KRTAP9-7 Gene

Drugs & Compounds for KRTAP9-7 Gene

No Compound Related Data Available

Transcripts for KRTAP9-7 Gene

mRNA/cDNA for KRTAP9-7 Gene

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 KRTAP9-7

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP9-7 Gene

No ASD Table

Relevant External Links for KRTAP9-7 Gene

GeneLoc Exon Structure for

Expression for KRTAP9-7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRTAP9-7 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP9-7 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x48.8) and Skin - Sun Exposed (Lower leg) (x4.1).
genes like me logo Genes that share expression patterns with KRTAP9-7: 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 KRTAP9-7 Gene

Orthologs for KRTAP9-7 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP9-7 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia KRTAP9-9 29
  • 95.66 (n)
KRTAP9-7 30
  • 94 (a)
(Mus musculus)
Mammalia Krtap9-1 30
  • 53 (a)
Gm11559 30
  • 51 (a)
Gm11567 30
  • 50 (a)
Gm11568 30
  • 47 (a)
(Bos Taurus)
Mammalia -- 30
  • 46 (a)
KRTAP9-1 30
  • 41 (a)
Species where no ortholog for KRTAP9-7 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)
  • 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 KRTAP9-7 Gene

Gene Tree for KRTAP9-7 (if available)
Gene Tree for KRTAP9-7 (if available)
Evolutionary constrained regions (ECRs) for KRTAP9-7: view image
Alliance of Genome Resources:
Additional Orthologs for KRTAP9-7

Paralogs for KRTAP9-7 Gene

Variants for KRTAP9-7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRTAP9-7 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs12948628 -- p.Ser130Asn
rs4890107 -- p.Thr23Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KRTAP9-7 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 KRTAP9-7 Gene

Variant ID Type Subtype PubMed ID
dgv127n111 CNV deletion 26073780
dgv128n111 CNV deletion 26073780
dgv1465n106 CNV deletion 24896259
dgv28e213 CNV gain 24956385
dgv3161n100 CNV loss 25217958
dgv3162n100 CNV loss 25217958
dgv3163n100 CNV gain+loss 25217958
dgv3164n100 CNV gain 25217958
dgv3165n100 CNV gain 25217958
dgv3167n100 CNV gain 25217958
dgv3168n100 CNV loss 25217958
dgv3169n100 CNV gain+loss 25217958
dgv3170n100 CNV gain 25217958
dgv411e201 CNV deletion 23290073
dgv552e199 CNV deletion 23128226
dgv5591n54 CNV loss 21841781
dgv5592n54 CNV loss 21841781
dgv5593n54 CNV loss 21841781
dgv5594n54 CNV loss 21841781
dgv5595n54 CNV loss 21841781
dgv5597n54 CNV gain+loss 21841781
dgv574e214 CNV loss 21293372
dgv59e203 CNV loss 21179565
dgv68e180 CNV deletion 20482838
dgv918e212 CNV loss 25503493
dgv919e212 CNV loss 25503493
dgv920e212 CNV loss 25503493
dgv921e212 CNV gain 25503493
dgv922e212 CNV loss 25503493
dgv923e212 CNV gain 25503493
esv1007843 CNV deletion 20482838
esv2245745 CNV deletion 18987734
esv23181 CNV loss 19812545
esv2459089 CNV loss 19546169
esv24780 CNV loss 19812545
esv2486786 CNV deletion 19546169
esv2495620 CNV deletion 19546169
esv2510666 CNV insertion 19546169
esv26423 CNV loss 19812545
esv26633 CNV loss 19812545
esv2663456 CNV deletion 23128226
esv2667502 CNV deletion 23128226
esv2669743 CNV deletion 23128226
esv2675684 CNV deletion 23128226
esv2678414 CNV deletion 23128226
esv2715913 CNV deletion 23290073
esv2715915 CNV deletion 23290073
esv2715916 CNV deletion 23290073
esv2715919 CNV deletion 23290073
esv2715930 CNV deletion 23290073
esv2715931 CNV deletion 23290073
esv2751681 CNV loss 17911159
esv2758690 CNV gain+loss 17122850
esv2760468 CNV gain+loss 21179565
esv2762466 CNV loss 21179565
esv2763166 CNV gain 21179565
esv2763167 CNV loss 21179565
esv2948235 CNV deletion 24192839
esv3449105 CNV duplication 20981092
esv3554418 CNV deletion 23714750
esv3554424 CNV deletion 23714750
esv3573097 CNV gain 25503493
esv3582654 CNV loss 25503493
esv3582657 CNV loss 25503493
esv3582661 CNV loss 25503493
esv3640559 CNV gain 21293372
esv3640560 CNV gain 21293372
esv3640566 CNV loss 21293372
esv3640567 CNV loss 21293372
esv3640568 CNV loss 21293372
esv3640569 CNV gain 21293372
esv3640570 CNV gain 21293372
esv3640573 CNV loss 21293372
esv3640576 CNV gain 21293372
esv3640577 CNV loss 21293372
esv3640578 CNV loss 21293372
esv3640579 CNV loss 21293372
esv3640582 CNV loss 21293372
esv993415 CNV loss 20482838
nsv1055383 CNV gain 25217958
nsv1055426 CNV gain 25217958
nsv1056148 CNV loss 25217958
nsv1058964 CNV gain 25217958
nsv1060512 CNV loss 25217958
nsv1067034 CNV gain+loss 25217958
nsv1077675 CNV insertion 25765185
nsv1116014 CNV deletion 24896259
nsv1118594 CNV duplication 24896259
nsv111868 CNV deletion 16902084
nsv1123131 CNV deletion 24896259
nsv112423 CNV deletion 16902084
nsv1125637 CNV tandem duplication 24896259
nsv112586 CNV insertion 16902084
nsv1129330 OTHER inversion 24896259
nsv1146669 OTHER inversion 26484159
nsv1160470 CNV duplication 26073780
nsv1160474 CNV deletion 26073780
nsv1160485 CNV deletion 26073780
nsv160 CNV deletion 15895083
nsv2050 CNV deletion 18451855
nsv435682 CNV deletion 17901297
nsv442417 CNV loss 18776908
nsv442418 CNV loss 18776908
nsv498871 CNV loss 21111241
nsv507840 OTHER sequence alteration 20534489
nsv510710 CNV deletion 20534489
nsv512486 CNV loss 21212237
nsv513472 CNV insertion 21212237
nsv514841 CNV loss 21397061
nsv528295 CNV loss 19592680
nsv575002 CNV loss 21841781
nsv575005 CNV loss 21841781
nsv575016 CNV loss 21841781
nsv575025 CNV loss 21841781
nsv575026 CNV loss 21841781
nsv575034 CNV gain 21841781
nsv819392 CNV loss 19587683
nsv833446 CNV gain 17160897
nsv953896 CNV deletion 24416366
nsv9550 CNV loss 18304495
nsv9551 CNV loss 18304495
nsv960485 CNV duplication 23825009
nsv978423 CNV duplication 23825009

Variation tolerance for KRTAP9-7 Gene

Residual Variation Intolerance Score: 89.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.06; 60.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRTAP9-7 Gene

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

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP9-7 Gene

Disorders for KRTAP9-7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KRTAP9-7 Gene - From: COP

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

Additional Disease Information for KRTAP9-7

genes like me logo Genes that share disorders with KRTAP9-7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KRTAP9-7 Gene

Publications for KRTAP9-7 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. 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
  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

Products for KRTAP9-7 Gene

Sources for KRTAP9-7 Gene