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Aliases for KRT40 Gene

Aliases for KRT40 Gene

  • Keratin 40 2 3 5
  • Keratin 40, Type I 2 3
  • Cytokeratin-40 3 4
  • CK-40 3 4
  • KA36 3 4
  • K40 3 4
  • Keratin, Type I Cytoskeletal 40 3
  • Type I Hair Keratin KA36 3
  • Type I Hair Keratin Ka36 4
  • Keratin-40 4

External Ids for KRT40 Gene

Previous GeneCards Identifiers for KRT40 Gene

  • GC17M036388
  • GC17M039133
  • GC17M034928

Summaries for KRT40 Gene

Entrez Gene Summary for KRT40 Gene

  • This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]

GeneCards Summary for KRT40 Gene

KRT40 (Keratin 40) is a Protein Coding gene. Among its related pathways are Keratinization and Developmental Biology. Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT36.

UniProtKB/Swiss-Prot for KRT40 Gene

  • May play a role in late hair differentiation.

Additional gene information for KRT40 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRT40 Gene

Genomics for KRT40 Gene

GeneHancer (GH) Regulatory Elements for KRT40 Gene

Promoters and enhancers for KRT40 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
GH17I040948 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.7 +32.4 32426 11.7 PKNOX1 FOXA2 MLX ZFP64 ARID4B NEUROD1 DMAP1 ZNF48 ETS1 TCF12 KRTAP3-2 KRT23 KRTAP2-1 KRT39 KRT40 KRTAP2-2 ENSG00000234477 KRTAP3-3 KRTAP1-5 KRTAP3-1
GH17I040908 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.5 +74.2 74164 8.7 FOXA2 MLX ARID4B SIN3A IRF4 ZNF48 ETS1 ZNF213 ARID2 ZNF143 KRT23 KRTAP3-2 MSL1 KRT20 TMEM99 KRT37 KRT28 KRT40 LOC100505782 KRT31
GH17I041620 Promoter/Enhancer 1.6 EPDnew FANTOM5 ENCODE 9.8 -637.1 -637059 6.5 PKNOX1 NFIB KLF17 BRCA1 ZNF335 GLIS2 ZNF366 RCOR1 KLF7 EGR2 KRT17 GC17M041622 GC17M041625 KRT9 KRT15 KRT14 KRT19 KRT40 ENSG00000234477 KRT37
GH17I040900 Enhancer 1.4 Ensembl ENCODE dbSUPER 9.7 +84.3 84341 5 PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 YY1 FOS SP5 KRT23 SNORD124 KRT12 TMEM99 KRT28 KRTAP3-2 KRT40 KRT37 KRT38 KRT26
GH17I041338 Enhancer 1 Ensembl ENCODE dbSUPER 9.4 -353.9 -353872 6 PKNOX1 YBX1 EBF1 RELA GATA3 NBN ZNF24 EZH2 KRT38 KRTAP16-1 KRTAP29-1 KRT31 LOC100505782 KRTAP17-1 KRTAP9-6 KRT37 ENSG00000234477 RNU2-32P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KRT40 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KRT40 gene promoter:

Genomic Locations for KRT40 Gene

Genomic Locations for KRT40 Gene
9,424 bases
Minus strand

Genomic View for KRT40 Gene

Genes around KRT40 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT40 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT40 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT40 Gene

Proteins for KRT40 Gene

  • Protein details for KRT40 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Keratin, type I cytoskeletal 40
    Protein Accession:
    Secondary Accessions:
    • Q6IFU5

    Protein attributes for KRT40 Gene

    431 amino acids
    Molecular mass:
    48139 Da
    Quaternary structure:
    • Heterotetramer of two type I and two type II keratins.
    • There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).

neXtProt entry for KRT40 Gene

Post-translational modifications for KRT40 Gene

No Post-translational modifications

Other Protein References for KRT40 Gene

No data available for DME Specific Peptides for KRT40 Gene

Domains & Families for KRT40 Gene

Gene Families for KRT40 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KRT40 Gene

Suggested Antigen Peptide Sequences for KRT40 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the intermediate filament family.
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT40: view

Function for KRT40 Gene

Molecular function for KRT40 Gene

UniProtKB/Swiss-Prot Function:
May play a role in late hair differentiation.

Gene Ontology (GO) - Molecular Function for KRT40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with KRT40: view
genes like me logo Genes that share phenotypes with KRT40: view

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRT40 Gene

Localization for KRT40 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 KRT40 gene
Compartment Confidence
cytosol 5
cytoskeleton 3
nucleus 2

Gene Ontology (GO) - Cellular Components for KRT40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
genes like me logo Genes that share ontologies with KRT40: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRT40 Gene

Pathways & Interactions for KRT40 Gene

SuperPathways for KRT40 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRT40: view

Pathways by source for KRT40 Gene

2 Reactome pathways for KRT40 Gene

Gene Ontology (GO) - Biological Process for KRT40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with KRT40: view

No data available for SIGNOR curated interactions for KRT40 Gene

Drugs & Compounds for KRT40 Gene

No Compound Related Data Available

Transcripts for KRT40 Gene

mRNA/cDNA for KRT40 Gene

(3) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KRT40 Gene

Keratin 40:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for KRT40 Gene

No ASD Table

Relevant External Links for KRT40 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KRT40 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRT40 Gene

mRNA differential expression in normal tissues according to GTEx for KRT40 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x22.4), Pituitary (x14.4), and Skin - Sun Exposed (Lower leg) (x5.3).

Protein differential expression in normal tissues from HIPED for KRT40 Gene

This gene is overexpressed in Adipocyte (27.2), Heart (20.1), and Urine (18.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KRT40 Gene

Protein tissue co-expression partners for KRT40 Gene

NURSA nuclear receptor signaling pathways regulating expression of KRT40 Gene:


SOURCE GeneReport for Unigene cluster for KRT40 Gene:


mRNA Expression by UniProt/SwissProt for KRT40 Gene:

Tissue specificity: Expressed in skin and scalp. Also very weakly expressed in tongue, breast, colon and small intestine. In the hair follicle, it is specifically present in the upper hair cuticle. Not present in the upper cortex (at protein level).

Evidence on tissue expression from TISSUES for KRT40 Gene

  • Skin(4.3)
genes like me logo Genes that share expression patterns with KRT40: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT40 Gene

Orthologs for KRT40 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT40 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia KRT40 33 34
  • 98.69 (n)
(Canis familiaris)
Mammalia KRT40 33 34
  • 86.05 (n)
(Bos Taurus)
Mammalia KRT40 33 34
  • 85.89 (n)
(Rattus norvegicus)
Mammalia Krt40 33
  • 81.78 (n)
(Mus musculus)
Mammalia Krt40 33 16 34
  • 81.71 (n)
(Ornithorhynchus anatinus)
Mammalia KRT40 34
  • 72 (a)
(Monodelphis domestica)
Mammalia KRT40 34
  • 70 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 42 (a)
-- 34
  • 38 (a)
(Danio rerio)
Actinopterygii wu:fb17f05 34
  • 41 (a)
cyt1 34
  • 39 (a)
zgc:92061 34
  • 39 (a)
cyt1l 34
  • 38 (a)
krt17 34
  • 38 (a)
zgc:109868 34
  • 37 (a)
krt1-19d 34
  • 36 (a)
krt15 34
  • 36 (a)
zgc:153629 34
  • 35 (a)
zgc:136902 34
  • 34 (a)
zgc:92035 34
  • 34 (a)
si:dkeyp-113d7.4 34
  • 33 (a)
BX469912.1 34
  • 19 (a)
zgc:92533 34
  • 19 (a)
Species where no ortholog for KRT40 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)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)

Evolution for KRT40 Gene

Gene Tree for KRT40 (if available)
Gene Tree for KRT40 (if available)

Paralogs for KRT40 Gene

Variants for KRT40 Gene

Sequence variations from dbSNP and Humsavar for KRT40 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000039296 -- 40,986,462(-) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000665381 -- 40,986,688(-) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000739496 -- 40,977,452(-) G/A/T downstream_transcript_variant
rs1000944830 -- 40,982,046(-) T/G intron_variant
rs1001078957 -- 40,978,746(-) C/A genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KRT40 Gene

Variant ID Type Subtype PubMed ID
dgv5590n54 CNV loss 21841781
esv22517 CNV loss 19812545
esv2761957 CNV gain 21179565
esv3640559 CNV gain 21293372
esv3640560 CNV gain 21293372
nsv1146669 OTHER inversion 26484159
nsv574999 CNV loss 21841781
nsv575000 CNV loss 21841781
nsv575001 CNV loss 21841781
nsv575002 CNV loss 21841781
nsv9550 CNV loss 18304495

Variation tolerance for KRT40 Gene

Residual Variation Intolerance Score: 98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 29.11; 99.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRT40 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT40 Gene

Disorders for KRT40 Gene

Additional Disease Information for KRT40

No disorders were found for KRT40 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRT40 Gene

Publications for KRT40 Gene

  1. Novel type I hair keratins K39 and K40 are the last to be expressed in differentiation of the hair: completion of the human hair keratin catalog. (PMID: 17301834) Langbein L … Schweizer J (The Journal of investigative dermatology 2007) 3 4 58
  2. New consensus nomenclature for mammalian keratins. (PMID: 16831889) Schweizer J … Wright MW (The Journal of cell biology 2006) 2 3 58
  3. Comprehensive analysis of keratin gene clusters in humans and rodents. (PMID: 15085952) Hesse M … Magin TM (European journal of cell biology 2004) 3 4 58
  4. The human type I keratin gene family: characterization of new hair follicle specific members and evaluation of the chromosome 17q21.2 gene domain. (PMID: 15617563) Rogers MA … Schweizer J (Differentiation; research in biological diversity 2004) 3 4 58
  5. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X … Vidal M (Cell 2016) 3 58

Products for KRT40 Gene

Sources for KRT40 Gene

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