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

Gene Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	126695
Gene name Gene Name - the full gene name approved by the HGNC.	Keratinocyte differentiation factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KDF1
Synonyms (NCBI Gene) Gene synonyms aliases	C1orf172, ECTD12
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	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

Protein

UniProt ID

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 (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Ectodermal dysplasia	ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type	rs1057519508	N/A

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Gout	Gout	N/A	N/A	GWAS
Hypogonadism	Hypogonadism	N/A	N/A	GWAS
Hypohidrotic ectodermal dysplasia	autosomal dominant hypohidrotic ectodermal dysplasia	N/A	N/A	GenCC

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)