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Aliases for KDF1 Gene

Aliases for KDF1 Gene

  • Keratinocyte Differentiation Factor 1 2 3 5
  • C1orf172 3 4
  • Chromosome 1 Open Reading Frame 172 2
  • RP11-344H11.3 3
  • ECTD12 3

External Ids for KDF1 Gene

Previous HGNC Symbols for KDF1 Gene

  • C1orf172

Summaries for KDF1 Gene

GeneCards Summary for KDF1 Gene

KDF1 (Keratinocyte Differentiation Factor 1) is a Protein Coding gene. Diseases associated with KDF1 include Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type and Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant.

UniProtKB/Swiss-Prot for KDF1 Gene

  • Plays a role in the regulation of the epidermis formation during early development. Required both as an inhibitor of basal cell proliferation and a promoter of differentiation of basal progenitor cell progeny (By similarity).

Additional gene information for KDF1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KDF1 Gene

Genomics for KDF1 Gene

GeneHancer (GH) Regulatory Elements for KDF1 Gene

Promoters and enhancers for KDF1 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
GH01I026958 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 550.8 -0.4 -358 3.9 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF48 ETS1 ZNF121 GLIS2 ELK1 KDF1 GC01P026960 PIGV NR0B2 NUDC FAM46B GPATCH3 ENSG00000226698 SFN LOC105376890
GH01I026990 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 8.1 -36.3 -36309 13.3 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 SLC30A9 ZNF143 FOS TRNP1 PIGV NR0B2 NUDC GPATCH3 KDF1 FAM46B TMEM222
GH01I026691 Promoter/Enhancer 3.3 UCNEbase EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.4 +263.4 263426 12.9 MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 ARID1A LOC101928728 HMGN2 ACTG1P20 PIGV LOC101928324 GPN2 GPATCH3 TMEM222 RPL17P9
GH01I026909 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 5.7 +47.5 47521 7 FOXA2 MLX ZFP64 ARID4B FEZF1 DMAP1 YY1 SLC30A9 ZNF766 PAF1 NR0B2 PIGV LOC101928324 ZDHHC18 ENSG00000226698 LIN28A LOC101928728 TRNP1 ARID1A KDF1
GH01I026856 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 3.6 +98.7 98741 9.6 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A ZNF2 YY1 POLR2B ZNF213 SFN ARID1A HMGN2 LOC101928324 GPATCH3 LOC101928728 ACTG1P20 ENSG00000231344 NPM1P39 PIGV
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KDF1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for KDF1 Gene

Genomic Locations for KDF1 Gene
10,929 bases
Minus strand

Genomic View for KDF1 Gene

Genes around KDF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KDF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KDF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KDF1 Gene

Proteins for KDF1 Gene

  • Protein details for KDF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Keratinocyte differentiation factor 1
    Protein Accession:
    Secondary Accessions:
    • Q5QP32
    • Q8N0S7

    Protein attributes for KDF1 Gene

    398 amino acids
    Molecular mass:
    43642 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAH33143.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for KDF1 Gene

Post-translational modifications for KDF1 Gene

No Post-translational modifications

Other Protein References for KDF1 Gene

No data available for DME Specific Peptides for KDF1 Gene

Domains & Families for KDF1 Gene

Gene Families for KDF1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for KDF1 Gene


Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KDF1: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for KDF1 Gene

Function for KDF1 Gene

Molecular function for KDF1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the regulation of the epidermis formation during early development. Required both as an inhibitor of basal cell proliferation and a promoter of differentiation of basal progenitor cell progeny (By similarity).

Phenotypes From GWAS Catalog for KDF1 Gene

genes like me logo Genes that share phenotypes with KDF1: view

Human Phenotype Ontology for KDF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KDF1 Gene

MGI Knock Outs for KDF1:
  • Kdf1 tm1a(EUCOMM)Wtsi

Animal Model Products

CRISPR Products

miRNA for KDF1 Gene

miRTarBase miRNAs that target KDF1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for KDF1 Gene

Localization for KDF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KDF1 Gene

Cytoplasm. Cell junction. Note=Localized at cell borders in single layered keratinocytes. Localized at cell borders in the basal and spinous layers but is more diffusely localized in the granular layer. Colocalized with actin near the cell membrane, especially in cellular protrusions (By similarity). {ECO:0000250 UniProtKB:A2A9F4}.

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 KDF1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 3
plasma membrane 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Mitotic spindle (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KDF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm ISS --
GO:0005938 cell cortex IEA --
GO:0030054 cell junction ISS --
GO:0031252 cell leading edge IEA --
genes like me logo Genes that share ontologies with KDF1: view

Pathways & Interactions for KDF1 Gene

No Data Available

Interacting Proteins for KDF1 Gene

Selected Interacting proteins: Q8NAX2-KDF1_HUMAN for KDF1 Gene via UniProtKB

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for KDF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003334 keratinocyte development IEA --
GO:0007275 multicellular organism development IEA --
GO:0010482 regulation of epidermal cell division IEA,ISS --
GO:0010839 negative regulation of keratinocyte proliferation IEA --
GO:0016331 morphogenesis of embryonic epithelium IEA,ISS --
genes like me logo Genes that share ontologies with KDF1: view

No data available for Pathways by source and SIGNOR curated interactions for KDF1 Gene

Drugs & Compounds for KDF1 Gene

No Compound Related Data Available

Transcripts for KDF1 Gene

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for KDF1 Gene

No ASD Table

Relevant External Links for KDF1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KDF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KDF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KDF1 Gene

This gene is overexpressed in Heart (61.0) and Placenta (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KDF1 Gene

Protein tissue co-expression partners for KDF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KDF1 Gene:


Evidence on tissue expression from TISSUES for KDF1 Gene

  • Kidney(4.1)
genes like me logo Genes that share expression patterns with KDF1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KDF1 Gene

Orthologs for KDF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KDF1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia C1H1orf172 33
  • 99.41 (n)
C1orf172 34
  • 99 (a)
(Canis familiaris)
Mammalia C1orf172 34
  • 93 (a)
C2H1orf172 33
  • 90.18 (n)
(Bos Taurus)
Mammalia MGC159903 34
  • 92 (a)
C2H1orf172 33
  • 88.69 (n)
(Mus musculus)
Mammalia 1810019J16Rik 33 34
  • 86.23 (n)
Kdf1 16
(Rattus norvegicus)
Mammalia RGD1303271 33
  • 85.39 (n)
(Monodelphis domestica)
Mammalia C1orf172 34
  • 68 (a)
(Gallus gallus)
Aves C23H1ORF172 33
  • 64.9 (n)
C1orf172 34
  • 50 (a)
(Anolis carolinensis)
Reptilia C1orf172 34
  • 50 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia c1orf172 33
  • 57.26 (n)
(Danio rerio)
Actinopterygii si:ch73-112l20.2 33
  • 50.11 (n)
C19H1orf172 (2 of 2) 34
  • 34 (a)
C16H1orf172 (1 of 2) 34
  • 31 (a)
Species where no ortholog for KDF1 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KDF1 Gene

Gene Tree for KDF1 (if available)
Gene Tree for KDF1 (if available)

Paralogs for KDF1 Gene

No data available for Paralogs for KDF1 Gene

Variants for KDF1 Gene

Sequence variations from dbSNP and Humsavar for KDF1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1057519508 dysplasia 12, hypohidrotic/hair/tooth/nail type (ECTD12) [MIM:617337], pathogenic, Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 26,951,628(-) G/T coding_sequence_variant, missense_variant
rs755094201 A colorectal cancer sample 26,951,446(-) C/T coding_sequence_variant, missense_variant
rs1000858569 -- 26,949,328(-) G/C downstream_transcript_variant
rs1001026256 -- 26,959,158(-) G/A genic_upstream_transcript_variant, intron_variant
rs1001419260 -- 26,950,871(-) A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KDF1 Gene

Variant ID Type Subtype PubMed ID
nsv834524 CNV gain+loss 17160897
nsv508689 CNV deletion 20534489
nsv1000012 CNV gain 25217958

Variation tolerance for KDF1 Gene

Residual Variation Intolerance Score: 51.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.30; 76.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KDF1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KDF1 Gene

Disorders for KDF1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for KDF1 Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards


  • Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type (ECTD12) [MIM:617337]: A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD12 is an autosomal dominant, hypohidrotic form characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth, and the inability to sweat due to defective development of sweat glands. {ECO:0000269 PubMed:27838789}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for KDF1

genes like me logo Genes that share disorders with KDF1: view

No data available for Genatlas for KDF1 Gene

Publications for KDF1 Gene

  1. KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia. (PMID: 27838789) Shamseldin HE … Alkuraya FS (Human genetics 2017) 3 4 58
  2. Forward genetics identifies Kdf1/1810019J16Rik as an essential regulator of the proliferation-differentiation decision in epidermal progenitor cells. (PMID: 24075906) Lee S … Weatherbee SD (Developmental biology 2013) 2 3 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. E-cadherin interactome complexity and robustness resolved by quantitative proteomics. (PMID: 25468996) Guo Z … Zaidel-Bar R (Science signaling 2014) 3 58
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 58

Products for KDF1 Gene

Sources for KDF1 Gene

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