KDF1 - keratinocyte differentiation factor 1 Gene

Also Known as ECTD12; C1orf172

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 126695

About KDF1

Cytogenetic location: 1p36.11 Genomic coordinates (GRCh38): 1:26,949,562-26,960,468 (from NCBI)

This gene has 1 transcript (splice variant), 278 orthologues and is associated with 2 phenotypes. Broad expression in thyroid (RPKM 5.3), duodenum (RPKM 5.2) and 18 other tissues.

Summary

Predicted to be involved in several processes, including positive regulation of epidermal cell differentiation; regulation of epidermal cell division; and skin development. Predicted to act upstream of or within keratinocyte development and negative regulation of keratinocyte proliferation. Located in cell junction; mitotic spindle; and nucleoplasm. Implicated in ectodermal dysplasia 12. [provided by Alliance of Genome Resources, Apr 2022]

KDF1 Products (1)

mRNA Protein Name
NM_152365.3 NP_689578.2 keratinocyte differentiation factor 1

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KDF1 Protein Structure

DUF4656

DUF4656: Domain of unknown function (DUF4656) (29 - 398)

  • 0
  • 100
  • 200
  • 300
  • 398 a.a.
Protein Preferred Names Protein Names

keratinocyte differentiation factor 1

  • RP11-344H11.3

KDF1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
KDF1 Q8NAX2 POU6F2 Homo sapiens P78424
Y2H Prey Pooling
32296183
Intra
KDF1 Q8NAX2 POU6F2 Homo sapiens P78424
Y2H Array
32296183
Intra
KDF1 Q8NAX2 MIPOL1 Homo sapiens Q8TD10
Y2H Prey Pooling
32296183
Intra
KDF1 Q8NAX2 MIPOL1 Homo sapiens Q8TD10
Validated Y2H
32296183
Intra
KDF1 Q8NAX2 MIPOL1 Homo sapiens Q8TD10
Y2H Array
32296183
Intra
KDF1 Q8NAX2 ARID5A Homo sapiens Q03989
Y2H Array
32296183
Intra
KDF1 Q8NAX2 ARID5A Homo sapiens Q03989
Y2H Prey Pooling
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type

  • ECTD12

  • Ectodermal Dysplasia 12
Ectodermal Dysplasia 10a, Hypohidrotic/Hair/Nail Type, Autosomal Dominant

  • ECTD10A

  • Hed

  • Ectodermal Dysplasia 10a

  • Ectodermal Dysplasia Hypohidrotic Autosomal Dominant

  • Autosomal Dominant Hypohidrotic Ectodermal Dysplasia

  • Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant

  • Hypohidrotic Ectodermal Dysplasia Autosomal Dominant

  • Ad-Hed

  • Autosomal Dominant Anhidrotic Ectodermal Dysplasia

  • Ectodermal Dysplasia 3

  • Ed3

  • Eda3

  • Ectodermal Dysplasia, Anhidrotic, Autosomal Dominant

  • Dysplasia, Ectodermal, Type 10a, Hypohidrotic/Hair/Nail, Autosomal Dominant

  • Dysplasia, Ectodermal, Type 3
Ectodermal Dysplasia

  • Congenital Ectodermal Defect

  • Congenital Ectodermal Dysplasia

  • Ectodermal Dysplasia Syndrome

  • Dysplasia, Ectodermal
Fetal Encasement Syndrome

  • Cocoon Syndrome

  • COCOS

  • Fetal Diseases
Popliteal Pterygium Syndrome

  • PPS

  • Faciogenitopopliteal Syndrome

  • Facio-Genito-Popliteal Syndrome

  • Popliteal Web Syndrome

  • Autosomal Dominant Popliteal Pterygium Syndrome

  • Cleft Lip/Palate, Paramedian Mucous Cysts Of The Lower Lip, Popliteal Pterygium, Digital And Genital Anomalies

  • Popliteal Pterygium Syndrome 1

  • Cleft Lip/Palate Paramedian Mucous Cysts Of The Lower Lip Popliteal Pterygium Digital And Genital Anomalies

  • Popliteal Pterygium
Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive

  • Hypohidrotic Ectodermal Dysplasia

  • Hed

  • Anhidrotic Ectodermal Dysplasia

  • Ectodermal Dysplasia, Hypohidrotic

  • Eda

  • Christ-Siemens-Touraine Syndrome

  • ECTD10B

  • Ectodermal Dysplasia Anhidrotic

  • Ectodermal Dysplasia, Anhidrotic

  • Cst Syndrome

  • Ectodermal Dysplasia Hypohidrotic Autosomal Recessive

  • Dysplasia, Ectodermal, Type 10b, Hypohidrotic/Hair/Tooth, Autosomal Recessive

  • Dysplasia, Ectodermal, Hypohidrotic

  • Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive

  • Ectodermal Dysplasia 3, Anhidrotic

  • Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Hypotrichosis
Anodontia

  • Complete Absence Of Teeth

  • Developmental Absence Of Tooth

  • Total Anodontia Of Permanent And Deciduous Teeth

  • Absence Of Permanent Teeth

  • Anodontia Of Permanent Dentition

  • Agomphiasis

  • Agomphosis

  • Anodontism

  • Complete Developmental Absence Of Teeth

  • Congenital Absence Of Teeth

  • Congenital Complete Absence Of Teeth

  • Congenital Edentia

  • Absence Of Teeth

  • Absent Teeth

  • Congenital Partial Absence Of Teeth

  • Partial Absence Of Teeth

  • Partial Anodontia
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked

  • Christ-Siemens-Touraine Syndrome

  • XHED

  • Ectodermal Dysplasia 1

  • Xlhed

  • Ed1

  • Cst Syndrome

  • Ectodermal Dysplasia 1, Hypohidrotic/Hair/Tooth Type, X-Linked

  • Ectd1

  • Ectodermal Dysplasia, Anhidrotic, X-Linked

  • Eda

  • Eda1

  • Hed1

  • Ectodermal Dysplasia 1, Anhidrotic

  • X-Linked Anhidrotic Ectodermal Dysplasia

  • X-Linked Hypohidrotic Ectodermal Dysplasia

  • Hypohidrotic X-Linked Ectodermal Dysplasia

  • Ectodermal Dysplasia, Hypohidrotic, 1

  • Hypohidrotic Ectodermal Dysplasia, X-Linked

  • Anhidrotic Ectodermal Dysplasia X-Linked

  • Hypohidrotic Ectodermal Dysplasia X-Linked

  • Ectodermal Dysplasia 1 Hypohidrotic/Hair/Tooth Type X-Linked

  • Ectodermal Dysplasia Anhidrotic
Van Der Woude Syndrome

  • Lip-Pit Syndrome

  • Vws

  • Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip

  • Vdws

  • Lps

  • Lip Pit Syndrome

  • Cleft Lip/Palate With Mucous Cysts Of Lower Lip

  • Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments
Tooth Agenesis

  • Oligodontia

  • Hypodontia

  • Selective Tooth Agenesis

  • Tooth Agenesis, Selective

  • Familial Tooth Agenesis

  • Anodontia

  • Congenital Absence Of One Tooth
Fanconi Anemia, Complementation Group D2

  • Fanconi Anemia Complementation Group D2

  • FANCD2

  • Fad2

  • Fa4

  • Fancd

  • Fanconi Pancytopenia Type 4

  • Fanconi Anemia, Complementation Group D

  • Fanconi Pancytopenia, Type 4

  • Facd

  • Fanconi Anemia Complementation Group D
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS07204 KDF1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus KDF1 RGD RGD:1303271
Mus musculus KDF1 MGD MGI:1916323
Felis catus KDF1 VGNC VGNC:63066
Canis familiaris KDF1 VGNC VGNC:42317
Bos taurus KDF1 VGNC VGNC:30521
Macaca mulatta KDF1 VGNC VGNC:73915
Others KDF1 NCBI