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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type	Pathogenic	rs1057519508	RCV000416757	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypodontia	Likely pathogenic	rs2522716301	RCV003330291	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA	—	CTD, Orphanet CTD, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KDF1-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (18)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anodontia	Anodontia	Pubtator	36293320	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal dominant hypohidrotic ectodermal dysplasia	Hypohidrotic ectodermal dysplasia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder)	Hypohidrotic Ectodermal Dysplasia, X-Linked	ORPHANET_DG	27838789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Christ-Siemens-Touraine syndrome	Hypohidrotic Ectodermal Dysplasia, X-Linked	BEFREE	27838789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	36293320	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	BEFREE	27838789		★★★★★ ★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE	Ectodermal dysplasia	UNIPROT_DG	27838789		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE	Ectodermal dysplasia	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Eczema	Eczema	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hidradenitis Suppurativa	Hidradenitis suppurativa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypohidrosis	Hypohidrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratosis pilaris	Keratosis pilaris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tooth Abnormalities	Tooth abnormalities	Pubtator	36293320	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

KDF1 (keratinocyte differentiation factor 1)