1. Gene
  2. KRT71 - keratin 71 Gene

KRT71 - keratin 71 Gene

中文名称:角蛋白 71

种属: Homo sapiens

同用名: HYPT13; K6IRS1; KRT6IRS; KRT6IRS1

基因 ID: 112802 | 基因类型: protein coding

关于 KRT71

Cytogenetic location: 12q13.13 Genomic coordinates (GRCh38): 12:52,543,909-52,553,145 (from NCBI)

This gene has 1 transcript (splice variant), 79 orthologues, 68 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

功能概要

角蛋白是负责上皮细胞结构完整性的中间丝蛋白,分为上皮角蛋白和毛发角蛋白。该基因编码一种在毛囊内根鞘中表达的蛋白质。 II 型角蛋白聚集在染色体 12q13 的区域。[RefSeq 提供,2009 年 6 月]

Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes a protein that is expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]

KRT71 基因产物(1)

mRNA Protein Name
NM_033448.3 NP_258259.1 keratin, type II cytoskeletal 71
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
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
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in hair follicle morphogenesis IMP
IMP: 通过突变表型推断
22592156 GOA
involved in intermediate filament organization IMP
IMP: 通过突变表型推断
22592156 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in keratin filament IDA
IDA: 通过直接分析推断
22592156 GOA
located in keratin filament 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

KRT71 蛋白结构

Filament

Filament: Intermediate filament protein (129 - 442)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 523 a.a.
蛋白主名 其他名称

keratin, type II cytoskeletal 71

CK-71

KRT71 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 KRT71 Q3SY84 KRT13 Homo sapiens A1A4E9
Y2H Prey Pooling
25416956
Intra KRT71 Q3SY84 KRT13 Homo sapiens A1A4E9
Validated Y2H
25416956
Intra KRT71 Q3SY84 KRT40 Homo sapiens Q6A162
Y2H Prey Pooling
32296183
Intra KRT71 Q3SY84 KRT40 Homo sapiens Q6A162
Validated Y2H
32296183
Intra KRT71 Q3SY84 KRT40 Homo sapiens Q6A162
Y2H Array
25416956
Intra KRT71 Q3SY84 KRT40 Homo sapiens Q6A162
Y2H Array
32296183
Intra KRT71 Q3SY84 KRT37 Homo sapiens O76014
Y2H Array
32296183
Intra KRT71 Q3SY84 KRT37 Homo sapiens O76014
Y2H Prey Pooling
32296183
Intra KRT71 Q3SY84 KRT34 Homo sapiens O76011
Y2H Prey Pooling
32296183
Intra KRT71 Q3SY84 KRT34 Homo sapiens O76011
Y2H Array
32296183
Intra KRT71 Q3SY84 KRT38 Homo sapiens O76015
Y2H Array
32296183
Intra KRT71 Q3SY84 KRT38 Homo sapiens O76015
Y2H Prey Pooling
25416956
Intra KRT71 Q3SY84 KRT38 Homo sapiens O76015
Y2H Prey Pooling
32296183
Intra KRT71 Q3SY84 KRT33B Homo sapiens Q14525
Y2H Array
32296183
Intra KRT71 Q3SY84 KRT33B Homo sapiens Q14525
Y2H Prey Pooling
32296183
Intra KRT71 Q3SY84 KRT35 Homo sapiens Q92764
Y2H Prey Pooling
32296183
Intra KRT71 Q3SY84 KRT35 Homo sapiens Q92764
Validated Y2H
32296183
Intra KRT71 Q3SY84 KRT35 Homo sapiens Q92764
Y2H Array
32296183
Intra KRT71 Q3SY84 KRT25 Homo sapiens Q7Z3Z0
Y2H Array
32296183
Intra KRT71 Q3SY84 KRT25 Homo sapiens Q7Z3Z0
Y2H Prey Pooling
32296183
Intra KRT71 Q3SY84 KRT25 Homo sapiens Q7Z3Z0
Validated Y2H
32296183
Intra KRT71 Q3SY84 KRT28 Homo sapiens Q7Z3Y7
Y2H Prey Pooling
32296183
Intra KRT71 Q3SY84 KRT28 Homo sapiens Q7Z3Y7
Validated Y2H
32296183
Intra KRT71 Q3SY84 KRT28 Homo sapiens Q7Z3Y7
Y2H Array
32296183
Intra KRT71 Q3SY84 KRT26 Homo sapiens Q7Z3Y9
Y2H Array
32296183
Intra KRT71 Q3SY84 KRT26 Homo sapiens Q7Z3Y9
Y2H Prey Pooling
32296183
Intra KRT71 Q3SY84 KRT26 Homo sapiens Q7Z3Y9
Validated Y2H
32296183
Intra KRT71 Q3SY84 KRT24 Homo sapiens Q2M2I5
Y2H Array
32296183
Intra KRT71 Q3SY84 KRT24 Homo sapiens Q2M2I5
Y2H Prey Pooling
32296183
Intra KRT71 Q3SY84 KRT18 Homo sapiens P05783
Y2H Prey Pooling
32296183
Intra KRT71 Q3SY84 KRT18 Homo sapiens P05783
Y2H Array
32296183
Intra KRT71 Q3SY84 KRT27 Homo sapiens Q7Z3Y8
Validated Y2H
32296183
Intra KRT71 Q3SY84 KRT27 Homo sapiens Q7Z3Y8
Y2H Prey Pooling
32296183
Intra KRT71 Q3SY84 KRT27 Homo sapiens Q7Z3Y8
Y2H Array
32296183
Intra KRT71 Q3SY84 KRT16 Homo sapiens P08779
Y2H Prey Pooling
32296183
Intra KRT71 Q3SY84 KRT16 Homo sapiens P08779
Y2H Array
32296183
Intra KRT71 Q3SY84 WASHC3 Homo sapiens Q9Y3C0
Validated Y2H
32296183
Intra KRT71 Q3SY84 WASHC3 Homo sapiens Q9Y3C0
Y2H Array
32296183
Intra KRT71 Q3SY84 WASHC3 Homo sapiens Q9Y3C0
Y2H Prey Pooling
32296183
Intra KRT71 Q3SY84 KRT15 Homo sapiens P19012
Y2H Prey Pooling
32296183
Intra KRT71 Q3SY84 KRT15 Homo sapiens P19012
Y2H Array
32296183
Intra KRT71 Q3SY84 USHBP1 Homo sapiens Q8N6Y0
Y2H Prey Pooling
32296183
Intra KRT71 Q3SY84 USHBP1 Homo sapiens Q8N6Y0
Validated Y2H
32296183
Intra KRT71 Q3SY84 USHBP1 Homo sapiens Q8N6Y0
Y2H Array
32296183
Intra KRT71 Q3SY84 KRT19 Homo sapiens P08727
Y2H Prey Pooling
32296183
Intra KRT71 Q3SY84 KRT19 Homo sapiens P08727
Y2H Array
32296183
Intra KRT71 Q3SY84 KRT31 Homo sapiens Q15323
Y2H Array
32296183
Intra KRT71 Q3SY84 KRT31 Homo sapiens Q15323
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
Hypotrichosis 13

HYPT13

Hypotrichosis With Woolly Hair

Hypotrichosis, Type 13

Familial Woolly Hair Syndrome

Wooly Hair

Familial Wooly Hair Syndrome

Hereditary Woolly Hair Syndrome

Hereditary Wooly Hair Syndrome

Woolly Hair

Syndrome With Woolly Hair

Wooly Hair Syndrome

Hypotrichosis
Woolly Hair, Autosomal Dominant

Autosomal Dominant Woolly Hair

ADWH

Woolly Hair Autosomal Dominant

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

Hypotrichosis 3

HYPT3

Hypotrichosis Simplex Of The Scalp 2

Htss2

Hypotrichosis, Type 3

Nail Disorder, Nonsyndromic Congenital, 4

Anonychia Congenita

Anonychia

Hyponychia Congenita

NDNC4

Anonychia/Hyponychia Congenita

Nonsyndromic Congenital Nail Disorder 4

Isolated Congenital Anonychia

Anonychia Congenita Totalis

Anonychia Totalis

Autosomal Recessive Nonsyndromic Congenital Nail Disorder-4

Congenital Anonychia

Nonsyndromic Congenital Nail Disorder, 4

Absent Nails

Aplastic Nails

Congenital Absence Of Nails

Isolated Anonychia

Nail Disorder, Non-Syndromic Congenital, 4

Nail Disorder, Nonsyndromic, Congenital, Type 4

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

Hypotrichosis 6

HYPT6

Lah1

Hypotrichosis, Localized, Autosomal Recessive

Monilethrix-Like Hypotrichosis

Hypotrichosis, Localized, Autosomal Recessive 1

Lah

Htl

Autosomal Recessive Localized Hypotrichosis

Hypotrichosis Localized Autosomal Recessive

Hypotrichosis Localized Autosomal Recessive 1

Hypotrichosis, Type 6

Nonsyndromic Congenital Nail Disorder

Nail Disorder, Nonsyndromic Congenital

Mucinoses
Hypotrichosis 4

HYPT4

Marie Unna Hereditary Hypotrichosis 1

Muhh1

Hypotrichosis, Marie Unna Type, 1

Hypotrichosis Marie Unna 1

Marie Unna Hereditary Hypotrichosis Type 1

Hypotrichosis, Hereditary, Marie Unna Type, 1

Hypotrichosis, Type 4

Monilethrix

Beaded Hair

MNLIX

Nodose Hair

Moniliform Hair Syndrome

Waardenburg Syndrome, Type 4c

Waardenburg Syndrome Type 4c

WS4C

Waardenburg Syndrome Type Ivc

Waardenburg Syndrome With Hirschsprung Disease Type 4c

Waardenburg Syndrome With Hirschsprung Disease, Type 4c

Waardenburg Syndrome, Type Ivc

Waardenburg Syndrome 4c

Hirschsprung Disease With Pigmentary Anomaly

Shah-Waardenburg Syndrome

Waardenburg-Shah Syndrome

Waardenburg Syndrome, Type 4a

Hair Disease

Hair Diseases

Hair Anomaly

Hair Disorder

Hair Problems

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

Hypotrichosis 8

HYPT8

Lah3

Hypotrichosis, Localized, Autosomal Recessive 3

Woolly Hair, Autosomal Recessive 1, With Or Without Hypotrichosis

Autosomal Recessive Woolly Hair 1, With Or Without Hypotrichosis

Hypotrichosis Localized Autosomal Recessive 3

Woolly Hair Autosomal Recessive 1 With Or Without Hypotrichosis

ARWH1

Hypotrichosis, Type 8

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

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
Rattus norvegicus KRT71 RGD RGD:1584538
Bos taurus KRT71 VGNC VGNC:30735
Macaca mulatta KRT71 VGNC VGNC:74147
Mus musculus KRT71 MGD MGI:1861586
Felis catus KRT71 VGNC VGNC:63171