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  2. FOXN1 - forkhead box N1 Gene

FOXN1 - forkhead box N1 Gene

中文名称:叉头盒 N1

种属: Homo sapiens

同用名: WHN; RONU; TLIND; FKHL20; TIDAND

基因 ID: 8456 | 基因类型: protein coding

关于 FOXN1

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:28,506,348-28,538,900 (from NCBI)

This gene has 3 transcripts (splice variants), 195 orthologues, 42 paralogues and is associated with 4 phenotypes. Biased expression in skin (RPKM 9.7) and esophagus (RPKM 2.5).

功能概要

小鼠和大鼠裸位点的翼螺旋转录因子基因突变产生无毛和无胸腺的多效表型,导致免疫系统严重受损。该基因与小鼠和大鼠基因同源,并编码一种类似的 DNA 结合转录因子,该因子被认为可调节角蛋白基因表达。该基因的突变与 T 细胞免疫缺陷、皮肤病先天性脱发和指甲营养不良有关。已观察到该基因 5' UTR 的选择性剪接。[RefSeq 提供,2008 年 7 月]

Mutations in the winged-helix transcription factor gene at the nude locus in mice and rats produce the pleiotropic phenotype of hairlessness and athymia, resulting in a severely compromised immune system. This gene is orthologous to the mouse and rat genes and encodes a similar DNA-binding transcription factor that is thought to regulate keratin gene expression. A mutation in this gene has been correlated with T-cell immunodeficiency, the skin disorder congenital alopecia, and nail dystrophy. Alternative splicing in the 5' UTR of this gene has been observed. [provided by RefSeq, Jul 2008]

FOXN1 基因产物(2)

mRNA Protein Name
NM_001369369.1 NP_001356298.1 forkhead box protein N1
NM_003593.3 NP_003584.2 forkhead box protein N1
基因本体论
  • 分子功能
  • 生物过程
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
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of epithelial cell differentiation IDA
IDA: 通过直接分析推断
24383669 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

FOXN1 蛋白结构

Forkhead

Forkhead: Forkhead domain (271 - 361)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 648 a.a.
蛋白主名 其他名称

forkhead box protein N1

Rowett nude

FOXN1 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 FOXN1 O15353 TLE5 Homo sapiens Q08117-2
Validated Y2H
32296183
Intra FOXN1 O15353 SPATC1L Homo sapiens Q9H0A9-2
Validated Y2H
32296183
Intra FOXN1 O15353 TRAF2 Homo sapiens Q12933
Validated Y2H
32296183
Intra FOXN1 O15353 CDC23 Homo sapiens Q9UJX2
Validated Y2H
32296183
Intra FOXN1 O15353 TSSK1B Homo sapiens Q9BXA7
MAPPIT
32296183
Intra FOXN1 O15353 TSSK1B Homo sapiens Q9BXA7
Validated Y2H
32296183
Intra FOXN1 O15353 PIN1 Homo sapiens Q13526
Validated Y2H
32296183
Intra FOXN1 O15353 HOXA1 Homo sapiens P49639
Validated Y2H
32296183
Intra FOXN1 O15353 TRAPPC6A Homo sapiens O75865-2
Validated Y2H
32296183
Intra FOXN1 O15353 LHX8 Homo sapiens Q68G74
Validated Y2H
32296183
Intra FOXN1 O15353 CDA Homo sapiens P32320
Validated Y2H
32296183
Intra FOXN1 O15353 MAPKBP1 Homo sapiens O60336
Validated Y2H
32296183
Intra FOXN1 O15353 DMRT3 Homo sapiens Q9NQL9
Validated Y2H
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
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy

Winged Helix Deficiency

Alymphoid Cystic Thymic Dysgenesis

Severe T-Cell Immunodeficiency-Congenital Alopecia-Nail Dystrophy Syndrome

Pignata Guarino Syndrome

TIDAND

T-Cell Immunodeficiency, Congenital Alopecia And Nail Dystrophy

Congenital Alopecia And Nail Dystrophy Associated With Severe Functional T-Cell Immunodeficiency

Severe Combined Immunodeficiency Due To Foxn1 Deficiency

Foxn1 Deficiency

Nude/Scid

Nude/Severe Combined Immunodeficiency

Scid Due To Foxn1 Deficiency

Severe T-Cell Immunodeficiency-Congenital Alopecia-Nail Dystrophy

T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant

TLIND

T-Cell Lymphopenia, Infantile, Without Nail Dystrophy, Autosomal Dominant

T-Cell Immunodeficiency With Thymic Aplasia

Nezelof Syndrome

T-Lymphocyte Deficiency

TIDTA

Immune Defect Due To Absence Of Thymus

Thymic Aplasia

Nezelof'S Syndrome

Thymic Dysplasia With Normal Immunoglobulins

Thymic Aplasia Syndrome

T-Lymphocyte Immunodeficiency

Alopecia
Lymphopenia

Lymphocytopenia

Ectopic Thymus
Thymus Squamous Cell Carcinoma

Epidermoid Thymic Carcinoma

Thymic Squamous Cell Carcinoma

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Thymic Dysplasia
Disseminated Chorioretinitis
Anencephaly

Aprosencephaly

Anencephalus

Congenital Absence Of Brain

Absence Of A Large Part Of The Brain And The Skull

Anencephalia

Anencephalic Monster

Brain Absence

Brain Agenesis

Brain Aplasia

Absent Brain

Anencephalic

Congenital Absence Of Cerebrum

Congenital Hemicrania

Incomplete Anencephaly

T Cell Deficiency

T Cell Immunodeficiency

T Lymphocyte Deficiency

T Lymphocyte Immunodeficiency

T-Lymphocyte Deficiency

Fraser Syndrome 1

Fraser Syndrome

Cryptophthalmos With Other Malformations

Cryptophthalmos Syndrome

FRASRS1

Cryptophthalmos-Syndactyly Syndrome

Fraser-Francois Syndrome

Cyclopism

Meyer-Schwickerath'S Syndrome

Ulrich-Feichtiger Syndrome

Cryptophthalmos Syndactyly Syndrome

Fraser'S Syndrome

Meyer-Schwickerath Syndrome

Ullrich-Feichtiger Syndrome

Ectodermal Dysplasia 9, Hair/Nail Type

ECTD9

Ectodermal Dysplasia 9

Dysplasia, Ectodermal, Type 9, Hair/Nail

Severe Combined Immunodeficiency

Scid

Severe Combined Immunodeficiency Disease

Combined T And B Cell Inborn Immunodeficiency

Immunodeficiency, Severe Combined

Scid - [Severe Combined Immunodeficiencies]

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia

Alopecia Universalis Congenita

Alopecia Universalis

ALUNC

Atrichia, Generalized

Au

Alopecia Areata Universalis

Atrichia Generalized

Atrichia With Papular Lesions

Papular Atrichia

APL

Congenital Atrichia

Ectodermal Dysplasia 5, Hair/Nail Type

ECTD5

Ectodermal Dysplasia 5

Ectodermal Dysplasia 6, Hair/Nail Type

ECTD6

Ectodermal Dysplasia 6

Ectodermal Dysplasia 7, Hair/Nail Type

ECTD7

Ectodermal Dysplasia 7

Dysplasia, Ectodermal, Type 7, Hair/Nail

Hair Disease

Hair Diseases

Hair Anomaly

Hair Disorder

Hair Problems

Ectodermal Dysplasia 4, Hair/Nail Type

Pure Hair And Nail Ectodermal Dysplasia

ECTD4

Ectodermal Dysplasia, Pure Hair-Nail Type

Ectodermal Dysplasia, 'Pure' Hair/Nail Type

Hned

Hair-Nail Ectodermal Dysplasia

Phned

Ectodermal Dysplasia Pure Hair-Nail Type

Ectodermal Dysplasia, 'Pure' Hair-Nail Type

Dysplasia, Ectodermal, Type 4, Hair/Nail

Keratosis, Seborrheic

Seborrheic Keratosis

Keratosis, Seborrheic, Somatic

Basal Cell Papilloma

Keratosis Seborrheica

KERSEB

Hypotrichosis 2

HYPT2

Hypotrichosis Simplex Of The Scalp 1

Htss1

Htss

Hypotrichosis, Spanish Type

Spanish Type Hypotrichosis

Hypotrichosis Spanish Type

Hypotrichosis, Type 2

Hypotrichosis Simplex Of Scalp

Acanthoma
Cutaneous Ganglioneuroma

Ganglioneuroma Of Skin

Omenn Syndrome

Histiocytic Medullary Reticulosis

Severe Combined Immunodeficiency With Hypereosinophilia

Combined Immunodeficiency With Hypereosinophilia

Reticuloendotheliosis, Familial, With Eosinophilia

Reticuloendotheliosis Familial With Eosinophilia

Familial Reticuloendotheliosis

Omenn'S Syndrome

OS

Malignant Histiocytosis

Monilethrix

Beaded Hair

MNLIX

Nodose Hair

Moniliform Hair Syndrome

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

直系同源

种属 基因名 来源 基因 ID
Canis familiaris FOXN1 VGNC VGNC:40960
Bos taurus FOXN1 VGNC VGNC:29095
Macaca mulatta FOXN1 VGNC VGNC:72481
Mus musculus FOXN1 MGD MGI:102949
Felis catus FOXN1 VGNC VGNC:62340
Rattus norvegicus FOXN1 RGD RGD:3970