• Gene id: 126695

Gene Summary

• Gene Symbol: KDF1   Gene   UCSC   Ensembl
• Aliases: C1orf172, ECTD12
• Gene name: keratinocyte differentiation factor 1
• Alternate names: keratinocyte differentiation factor 1, RP11-344H11.3,
• Gene location: 1p36.11 (26960495: 26949555)     Exons: 5     NC_000001.11
• OMIM: 616046

Protein Summary

• Protein general information: Q8NAX2  
  • Name: Keratinocyte differentiation factor 1
  • Length: 398  
  • Mass: 43642
• Sequence:

  MPRPGHPRPASGPPRLGPWERPTELCLETYDKPPQPPPSRRTRRPDPKDPGHHGPESITFISGSAEPALESPTCC
  LLWRPWVWEWCRAAFCFRRCRDCLQRCGACVRGCSPCLSTEDSTEGTAEANWAKEHNGVPPSPDRAPPSRRDGQR
  LKSTMGSSFSYPDVKLKGIPVYPYPRATSPAPDADSCCKEPLADPPPMRHSLPSTFASSPRGSEEYYSFHESDLD
  LPEMGSGSMSSREIDVLIFKKLTELFSVHQIDELAKCTSDTVFLEKTSKISDLISSITQDYHLDEQDAEGRLVRG
  IIRISTRKSRARPQTSEGRSTRAAAPTAAAPDSGHETMVGSGLSQDELTVQISQETTADAIARKLRPYGAPGYPA
  SHDSSFQGTDTDSSGAPLLQVYC

• Structural information:
  • Interpro: IPR028003  
  • STRING: ENSP00000319179
• Other Databases: GeneCards:  KDF1  Malacards:  KDF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010482	regulation of epidermal cell division	IBA	biological process
GO:0030054	cell junction	IBA	cellular component
GO:0045606	positive regulation of epidermal cell differentiation	ISS	biological process
GO:0030054	cell junction	ISS	cellular component
GO:0016331	morphogenesis of embryonic epithelium	ISS	biological process
GO:0010482	regulation of epidermal cell division	ISS	biological process
GO:2000647	negative regulation of stem cell proliferation	ISS	biological process
GO:0061436	establishment of skin barrier	ISS	biological process
GO:0060887	limb epidermis development	ISS	biological process
GO:0048589	developmental growth	ISS	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0003334	keratinocyte development	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045606	positive regulation of epidermal cell differentiation	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0016331	morphogenesis of embryonic epithelium	IEA	biological process
GO:0010839	negative regulation of keratinocyte proliferation	IEA	biological process
GO:0010482	regulation of epidermal cell division	IEA	biological process
GO:0005938	cell cortex	IEA	cellular component
GO:2000647	negative regulation of stem cell proliferation	IEA	biological process
GO:0061436	establishment of skin barrier	IEA	biological process
GO:0060887	limb epidermis development	IEA	biological process
GO:0048589	developmental growth	IEA	biological process
GO:0031252	cell leading edge	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003334	keratinocyte development	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0072686	mitotic spindle	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component

Diseases

Associated diseases	References
Hypohidrotic ectodermal dysplasia	KEGG:H00651
Hypohidrotic ectodermal dysplasia	KEGG:H00651
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881