Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID	126695
Gene name	Keratinocyte differentiation factor 1
Gene symbol	KDF1
Synonyms (NCBI Gene)	C1orf172ECTD12
Chromosome	1
Chromosome location	1p36.11

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1057519508	G>T	Pathogenic	Missense variant, coding sequence variant

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003334	Process	Keratinocyte development	IEA
GO:0003334	Process	Keratinocyte development	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005938	Component	Cell cortex	IEA
GO:0009913	Process	Epidermal cell differentiation	IEA
GO:0010482	Process	Regulation of epidermal cell division	IBA
GO:0010482	Process	Regulation of epidermal cell division	IEA
GO:0010482	Process	Regulation of epidermal cell division	ISS
GO:0010839	Process	Negative regulation of keratinocyte proliferation	IEA
GO:0016331	Process	Morphogenesis of embryonic epithelium	IEA
GO:0016331	Process	Morphogenesis of embryonic epithelium	ISS
GO:0016579	Process	Protein deubiquitination	IEA
GO:0030054	Component	Cell junction	IBA
GO:0030054	Component	Cell junction	IEA
GO:0030054	Component	Cell junction	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0031252	Component	Cell leading edge	IEA
GO:0043588	Process	Skin development	IEA
GO:0043616	Process	Keratinocyte proliferation	IEA
GO:0045606	Process	Positive regulation of epidermal cell differentiation	IEA
GO:0045606	Process	Positive regulation of epidermal cell differentiation	ISS
GO:0048589	Process	Developmental growth	IEA
GO:0048589	Process	Developmental growth	ISS
GO:0050821	Process	Protein stabilization	IEA
GO:0060887	Process	Limb epidermis development	IEA
GO:0060887	Process	Limb epidermis development	ISS
GO:0061436	Process	Establishment of skin barrier	IEA
GO:0061436	Process	Establishment of skin barrier	ISS
GO:0070161	Component	Anchoring junction	IEA
GO:0072089	Process	Stem cell proliferation	IEA
GO:2000647	Process	Negative regulation of stem cell proliferation	IEA
GO:2000647	Process	Negative regulation of stem cell proliferation	ISS

MIM	HGNC	e!Ensembl
616758	26624	ENSG00000175707

Q8NAX2

Protein name

Keratinocyte differentiation factor 1

Protein 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). {ECO:0000250|UniPro

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15551	DUF4656	34 → 398	Domain of unknown function (DUF4656)	Family

Sequence

MPRPGHPRPASGPPRLGPWERPTELCLETYDKPPQPPPSRRTRRPDPKDPGHHGPESITF
ISGSAEPALESPTCCLLWRPWVWEWCRAAFCFRRCRDCLQRCGACVRGCSPCLSTEDSTE
GTAEANWAKEHNGVPPSPDRAPPSRRDGQRLKSTMGSSFSYPDVKLKGIPVYPYPRATSP
APDADSCCKEPLADPPPMRHSLPSTFASSPRGSEEYYSFHESDLDLPEMGSGSMSSREID
VLIFKKLTELFSVHQIDELAKCTSDTVFLEKTSKISDLISSITQDYHLDEQDAEGRLVRG
IIRISTRKSRARPQTSEGRSTRAAAPTAAAPDSGHETMVGSGLSQDELTVQISQETTADA
IARKLRPYGAPGYPASHDSSFQGTDTDSSGAPLLQVYC

Sequence length

398

Interactions

View interactions

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type	Pathogenic	rs1057519508	RCV000416757
Hypodontia	Likely pathogenic	rs2522716301	RCV003330291

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
KDF1-related disorder	Benign; Likely benign	rs78691396, rs144377897, rs141390568, rs140672463, rs139183337, rs561551802, rs371561424, rs142079202, rs150246438, rs150374655	RCV003978659 RCV003916577 RCV003936376 RCV003916670 RCV003966576 RCV003929750 RCV003933920 RCV003969173 RCV003905869 RCV003916124
See cases	Uncertain significance	rs746444382	RCV005926849

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	35635202
Anodontia	Associate	36293320
Congenital Abnormalities	Associate	36293320
Focal Epithelial Hyperplasia	Associate	36293320
Neoplasms Glandular and Epithelial	Associate	36293320
Tooth Abnormalities	Associate	36293320

KDF1 (keratinocyte differentiation factor 1)