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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. Diseases associated with KRT40 include Thalassemias, Alpha-. Among its related pathways are Developmental Biology. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT35.

UniProtKB/Swiss-Prot for KRT40 Gene

  • May play a role in late hair differentiation.

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

Genomics for KRT40 Gene

Regulatory Elements for KRT40 Gene

Enhancers for KRT40 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
GH17F040948 1.1 FANTOM5 Ensembl ENCODE 10.7 +32.4 32426 11.7 PKNOX1 ATF1 MLX ZFP64 ARID4B DMAP1 ZNF48 SLC30A9 ZNF121 ZNF143 KRTAP3-2 KRT23 KRTAP2-1 KRT39 KRT40 KRTAP2-2 ENSG00000234477 KRTAP3-3 KRTAP1-5 KRTAP3-1
GH17F041620 1.2 FANTOM5 ENCODE 9.8 -637.1 -637059 6.5 HDGF PKNOX1 BRCA1 ZNF121 GLIS2 KLF7 JUNB REST TBX21 ZNF518A KRT9 KRT15 KRT14 KRT19 MIR6510 KRT40 ENSG00000234477 KRT37 KRT16 KRT36
GH17F041629 0.5 Ensembl 9.8 -642.6 -642562 0.2 ZNF146 ID3 NR2F6 KRT14 KRT9 KRT40 KRT37 KRT17 KRT42P
GH17F040900 1 Ensembl ENCODE 9.7 +84.3 84341 5.0 PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 ZNF143 KRT23 KRT12 TMEM99 KRT28 KRTAP3-2 KRT40 KRT37 KRT38 KRT26 KRTAP3-1
GH17F040908 1.2 FANTOM5 Ensembl ENCODE 9.5 +74.2 74164 8.7 PKNOX1 ATF1 MLX ZFP64 ARID4B ZNF48 ZNF121 ZNF143 FOS DEK KRT23 TMEM99 KRTAP3-2 ENSG00000259623 KRT20 KRT37 KRT28 KRT40 LOC100505782 KRT31
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KRT40 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRT40 Gene

40,977,716 bp from pter
40,987,139 bp from pter
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

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

Flow Cytometry Products

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

Localization for KRT40 Gene

Subcellular locations from

Jensen Localization Image for KRT40 Gene COMPARTMENTS Subcellular localization image for KRT40 gene
Compartment Confidence
cytoskeleton 3
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for KRT40 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 for KRT40 Gene

Pathways & Interactions for KRT40 Gene

SuperPathways for KRT40 Gene

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

Pathways by source for KRT40 Gene

1 Reactome pathway for KRT40 Gene

Gene Ontology (GO) - Biological Process for KRT40 Gene


No data available for SIGNOR curated interactions for KRT40 Gene

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

Flow Cytometry 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 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 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).
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 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 34 35
  • 98.69 (n)
(Canis familiaris)
Mammalia KRT40 34 35
  • 86.05 (n)
(Bos Taurus)
Mammalia KRT40 34 35
  • 85.89 (n)
(Rattus norvegicus)
Mammalia Krt40 34
  • 81.78 (n)
(Mus musculus)
Mammalia Krt40 34 16 35
  • 81.71 (n)
(Ornithorhynchus anatinus)
Mammalia KRT40 35
  • 72 (a)
(Monodelphis domestica)
Mammalia KRT40 35
  • 70 (a)
(Anolis carolinensis)
Reptilia -- 35
  • 42 (a)
-- 35
  • 38 (a)
(Danio rerio)
Actinopterygii wu:fb17f05 35
  • 41 (a)
cyt1 35
  • 39 (a)
zgc:92061 35
  • 39 (a)
cyt1l 35
  • 38 (a)
krt17 35
  • 38 (a)
zgc:109868 35
  • 37 (a)
krt1-19d 35
  • 36 (a)
krt15 35
  • 36 (a)
zgc:153629 35
  • 35 (a)
zgc:136902 35
  • 34 (a)
zgc:92035 35
  • 34 (a)
si:dkeyp-113d7.4 35
  • 33 (a)
BX469912.1 35
  • 19 (a)
zgc:92533 35
  • 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 Sequence Context AA Info Type
rs1510068 --
rs1510069 --
rs16968862 --
rs17843015 --
rs2010027 --

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)

Relevant External Links for KRT40 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for KRT40 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KRT40 Gene - From: DISEASES

Disorder Aliases PubMed IDs
thalassemias, alpha-
  • thalassemia, alpha-
- elite association - COSMIC cancer census association via MalaCards
Search KRT40 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KRT40

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with KRT40: view

No data available for 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. (J. Invest. Dermatol. 2007) 3 4 64
  2. New consensus nomenclature for mammalian keratins. (PMID: 16831889) Schweizer J. … Wright M.W. (J. Cell Biol. 2006) 2 3 64
  3. Comprehensive analysis of keratin gene clusters in humans and rodents. (PMID: 15085952) Hesse M. … Magin T.M. (Eur. J. Cell Biol. 2004) 3 4 64
  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 M.A. … Schweizer J. (Differentiation 2004) 3 4 64
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64

Products for KRT40 Gene

Sources for KRT40 Gene

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