Entity Details

Primary name KDF1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8NAX2
EntryNameKDF1_HUMAN
FullNameKeratinocyte differentiation factor 1
TaxID9606
Evidenceevidence at protein level
Length398
SequenceStatuscomplete
DateCreated2007-05-29
DateModified2021-06-02

Ontological Relatives

GenesKDF1

GO terms

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GOName
GO:0003334 keratinocyte development
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005938 cell cortex
GO:0010482 regulation of epidermal cell division
GO:0010839 negative regulation of keratinocyte proliferation
GO:0016331 morphogenesis of embryonic epithelium
GO:0030054 cell junction
GO:0031252 cell leading edge
GO:0045606 positive regulation of epidermal cell differentiation
GO:0048589 developmental growth
GO:0060887 limb epidermis development
GO:0061436 establishment of skin barrier
GO:0072686 mitotic spindle
GO:2000647 negative regulation of stem cell proliferation

Subcellular Location

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Subcellular Location
Cell junction
Cytoplasm

Domains

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DomainNameCategoryType
IPR028003 Keratinocyte differentiation factor 1FamilyFamily

Diseases

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Disease IDSourceNameDescription
617337 OMIMEctodermal dysplasia 12, hypohidrotic/hair/tooth/nail type (ECTD12)A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD12 is an autosomal dominant, hypohidrotic form characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth, and the inability to sweat due to defective development of sweat glands. The disease may be caused by variants affecting the gene represented in this entry.

Interactions

6 interactions