2. Gene
  3. KDF1 - keratinocyte differentiation factor 1 Gene

KDF1 - keratinocyte differentiation factor 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：角质形成细胞分化因子 1

种属: Homo sapiens

同用名: ECTD12; C1orf172

基因 ID: 126695 | 基因类型: protein coding

关于 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.

功能概要

预计参与多个过程，包括表皮细胞分化的正调控；调节表皮细胞分裂；和皮肤发育。预计在角质形成细胞发育的上游或内部起作用，并对角质形成细胞增殖进行负调节。位于细胞连接处；有丝分裂纺锤体;和核质。涉及外胚层发育不良 12。[由基因组资源联盟提供，2022 年 4 月]

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 基因产物(1)

mRNA Protein Name
NM_152365.3 NP_689578.2 keratinocyte differentiation factor 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

KDF1 蛋白结构

DUF4656

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

  • 0
  • 100
  • 200
  • 300
  • 398 a.a.
蛋白主名 其他名称

keratinocyte differentiation factor 1

RP11-344H11.3

KDF1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
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
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS07204 KDF1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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