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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

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.

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).

No data available for Entrez Gene 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
GH01F026990 1.8 FANTOM5 Ensembl ENCODE 8.1 -36.3 -36310 13.3 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NPM1P39 FAM110D LOC105376890 ENSG00000231344 LOC101928728 RPL17P9 PIGV LIN28A HMGN2 LOC101928324
GH01F026691 2.7 FANTOM5 ENCODE 4.4 +263.4 263424 12.9 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 HMGN2 ACTG1P20 PIGV NPM1P39 LOC101928728 LOC101928324 ZDHHC18 LOC105376890 ENSG00000207302 GPATCH3
GH01F026971 1 Ensembl ENCODE 6.8 -11.8 -11809 1.0 BCOR SMARCA5 SAP130 CHD4 ZMYM3 CEBPB ZKSCAN1 ZNF592 ZNF7 CBX1 FAM46B PIGV GPATCH3 NUDC KDF1 GC01P026975 GC01P026960
GH01F026944 0.9 ENCODE 7.4 +15.9 15949 0.3 ELF3 MLX ARID4B THRB ZNF48 ZSCAN9 RAD21 RARA GATA4 CREM NR0B2 NUDC PIGV GPATCH3 ENSG00000226698 ACTG1P20 TMEM222 RNU6-48P LOC105376890 WDTC1
GH01F026852 1 ENCODE 6.6 +106.5 106456 3.7 HDGF PKNOX1 ZNF493 ZFP64 FEZF1 ZNF121 ZNF302 CBX5 ZNF143 KLF7 ACTG1P20 HMGN2 NPM1P39 LOC101928324 LOC101928728 ENSG00000231344 RPL17P9 PIGV ZNF593 ZDHHC18
- 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
ENSR00000533207 384 1401 ARID4B SIN3A DMAP1 ZNF48 ETS1 GLIS2 ZNF263 MIER2 TSHZ1 REST

Genomic Location for KDF1 Gene

Chromosome:
1
Start:
26,949,556 bp from pter
End:
26,960,484 bp from pter
Size:
10,929 bases
Orientation:
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:
    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

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 Gene Families , 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).
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

miRNA for KDF1 Gene

miRTarBase miRNAs that target KDF1

Inhibitory RNA Products

Flow Cytometry 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}.

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

Gene Ontology (GO) - Cellular Components for KDF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

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

Transcripts for KDF1 Gene

Inhibitory RNA Products

Flow Cytometry 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 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
genes like me logo Genes that share expression patterns with KDF1: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 34
  • 99.41 (n)
C1orf172 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C1orf172 35
  • 93 (a)
OneToOne
C2H1orf172 34
  • 90.18 (n)
cow
(Bos Taurus)
Mammalia MGC159903 35
  • 92 (a)
OneToOne
C2H1orf172 34
  • 88.69 (n)
mouse
(Mus musculus)
Mammalia 1810019J16Rik 34 35
  • 86.23 (n)
Kdf1 16
rat
(Rattus norvegicus)
Mammalia RGD1303271 34
  • 85.39 (n)
oppossum
(Monodelphis domestica)
Mammalia C1orf172 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves C23H1ORF172 34
  • 64.9 (n)
C1orf172 35
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C1orf172 35
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c1orf172 34
  • 57.26 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch73-112l20.2 34
  • 50.11 (n)
C19H1orf172 (2 of 2) 35
  • 34 (a)
OneToMany
C16H1orf172 (1 of 2) 35
  • 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
rs111439422 -- 26,961,062(+) GGTAG(A/G)GGAGG upstream-variant-2KB
rs111644194 -- 26,954,835(+) GTCTC(-/A)AAAAA intron-variant, upstream-variant-2KB
rs112207048 -- 26,954,151(+) GGCAA(C/T)AGTTG intron-variant, upstream-variant-2KB
rs112294033 -- 26,957,192(+) GGCCT(C/T)CCAAA intron-variant

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

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

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

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

Relevant External Links for KDF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KDF1

No disorders were found for KDF1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KDF1 Gene

Publications for KDF1 Gene

  1. Forward genetics identifies Kdf1/1810019J16Rik as an essential regulator of the proliferation-differentiation decision in epidermal progenitor cells. (PMID: 24075906) Lee S. … Weatherbee S.D. (Dev. Biol. 2013) 2 3 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  4. KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia. (PMID: 27838789) Shamseldin H.E. … Alkuraya F.S. (Hum. Genet. 2016) 3 64
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3 64

Products for KDF1 Gene

Sources for KDF1 Gene

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