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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

Regulatory Elements for KDF1 Gene

Enhancers for KDF1 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
GH01H026990 2 FANTOM5 Ensembl ENCODE dbSUPER 8.1 -36.3 -36310 13.3 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 SLC30A9 ZNF143 FOS PIGV NR0B2 NUDC GPATCH3 TRNP1 KDF1 FAM46B TMEM222
GH01H026691 3.2 FANTOM5 Ensembl ENCODE dbSUPER 4.4 +263.4 263427 12.9 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A ZFP41 ARID1A HMGN2 LOC101928324 PIGV ACTG1P20 LOC101928728 GPN2 GPATCH3 TMEM222 LOC105376890
GH01H026909 1.6 Ensembl ENCODE dbSUPER 5.7 +47.5 47522 7 FOXA2 MLX ZFP64 ARID4B FEZF1 DMAP1 YY1 SLC30A9 ZNF766 PAF1 PIGV LOC101928324 ZDHHC18 ENSG00000226698 LIN28A LOC101928728 TRNP1 ARID1A KDF1 NR0B2
GH01H026970 1 ENCODE dbSUPER 7.6 -10.5 -10516 1.1 SOX13 DRAP1 FOXA2 SAP130 ARID4B CEBPG ZNF644 THRB RARA ADNP FAM46B GPATCH3 NUDC KDF1 GC01P026975 GC01P026960
GH01H026852 1.1 ENCODE dbSUPER 6.6 +106.5 106456 3.7 HDGF PKNOX1 RB1 INSM2 KLF17 RAD21 RFX5 ZNF143 CREM DEK PIGV ZDHHC18 GPATCH3 NUDC RPS6KA1 TRNP1 TMEM222 KDF1 OSTCP2 GC01P026859
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KDF1 on UCSC Golden Path with GeneCards custom track

Promoters for KDF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000003642 184 601 ARID4B SIN3A DMAP1 BRCA1 ETS1 GLIS2 ELK1 ATF7 TSHZ1 MIER2

Genomic Locations for KDF1 Gene

Genomic Locations for KDF1 Gene
chr1:26,949,556-26,960,484
(GRCh38/hg38)
Size:
10,929 bases
Orientation:
Minus strand
chr1:27,276,047-27,286,901
(GRCh37/hg19)

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:
    Q8NAX2-KDF1_HUMAN
    Recommended name:
    Keratinocyte differentiation factor 1
    Protein Accession:
    Q8NAX2
    Secondary Accessions:
    • Q5QP32
    • Q8N0S7

    Protein attributes for KDF1 Gene

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

neXtProt entry for KDF1 Gene

Post-translational modifications for KDF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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):
  • Predicted intracellular proteins

Protein Domains for KDF1 Gene

InterPro:
ProtoNet:

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

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 , Human Phenotype Ontology , 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

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 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
ARID5A

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 ISS,IEA --
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
KDF1
ECgene alternative splicing isoforms for
KDF1

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:

KDF1

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
chimpanzee
(Pan troglodytes)
Mammalia C1H1orf172 33
  • 99.41 (n)
C1orf172 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C1orf172 34
  • 93 (a)
OneToOne
C2H1orf172 33
  • 90.18 (n)
cow
(Bos Taurus)
Mammalia MGC159903 34
  • 92 (a)
OneToOne
C2H1orf172 33
  • 88.69 (n)
mouse
(Mus musculus)
Mammalia 1810019J16Rik 34 33
  • 86.23 (n)
OneToOne
Kdf1 16
rat
(Rattus norvegicus)
Mammalia RGD1303271 33
  • 85.39 (n)
oppossum
(Monodelphis domestica)
Mammalia C1orf172 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves C23H1ORF172 33
  • 64.9 (n)
C1orf172 34
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C1orf172 34
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c1orf172 33
  • 57.26 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch73-112l20.2 33
  • 50.11 (n)
C19H1orf172 (2 of 2) 34
  • 34 (a)
OneToMany
C16H1orf172 (1 of 2) 34
  • 31 (a)
OneToMany
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

ENSEMBL:
Gene Tree for KDF1 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs755094201 A colorectal cancer sample 26,951,446(+) GTGGG(C/T)GAGCA reference, missense
VAR_078070 Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type (ECTD12) [MIM:617337]
rs1057519508 Pathogenic 26,951,628(-) CTGTT(A/C)AGCGT reference, missense
rs1000858569 -- 26,949,328(+) ACAAT(C/G)TCAGA downstream-variant-500B
rs1001026256 -- 26,959,158(+) CGCCA(A/G)GCTCT 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)

Relevant External Links for KDF1 Gene

Human Gene Mutation Database (HGMD)
KDF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KDF1

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

- elite association - COSMIC cancer census association via MalaCards
Search KDF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KDF1_HUMAN
  • 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.

Relevant External Links for KDF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 2016) 3 4 60
  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 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 60
  5. E-cadherin interactome complexity and robustness resolved by quantitative proteomics. (PMID: 25468996) Guo Z … Zaidel-Bar R (Science signaling 2014) 3 60

Products for KDF1 Gene

Sources for KDF1 Gene

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