1. Gene
  2. KRT81 - keratin 81 Gene

KRT81 - keratin 81 Gene

中文名称:角蛋白 81

种属: Homo sapiens

同用名: HB1; K81; Hb-1; KRTHB1; MLN137; ghHkb1; hHAKB2-1

基因 ID: 3887 | 基因类型: protein coding

关于 KRT81

Cytogenetic location: 12q13.13 Genomic coordinates (GRCh38): 12:52,285,913-52,308,624 (from NCBI)

This gene has 1 transcript (splice variant), 46 orthologues, 68 paralogues and is associated with 3 phenotypes. Biased expression in placenta (RPKM 1.1), salivary gland (RPKM 0.5) and 13 other tissues.

功能概要

该基因编码的蛋白质是角蛋白基因家族的一员。作为一种 II 型毛发角蛋白,它是一种碱性蛋白质,可与 I 型角蛋白异二聚化形成毛发和指甲。 II 型毛发角蛋白聚集在染色体 12q13 的一个区域,并根据结构相似性分为两个不同的亚家族。一个由 KRTHB1、KRTHB3 和 KRTHB6 组成的亚家族高度相关。其他不太相关的亚家族包括 KRTHB2、KRTHB4 和 KRTHB5。所有的毛发角蛋白都在毛囊中表达;这种毛发角蛋白以及 KRTHB3 和 KRTHB6 主要存在于毛发皮质中。在患有罕见的显性毛发疾病 monilethrix 的患者中观察到了该基因和 KRTHB6 的突变。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB3 and KRTHB6, is found primarily in the hair cortex. Mutations in this gene and KRTHB6 have been observed in patients with a rare dominant hair disease, monilethrix. [provided by RefSeq, Jul 2008]

KRT81 基因产物(1)

mRNA Protein Name
NM_002281.4 NP_002272.2 keratin, type II cuticular Hb1
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
16189514 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

KRT81 蛋白结构

Filament

Filament: Intermediate filament protein (105 - 416)

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

keratin, type II cuticular Hb1

hair keratin K2.9

KRT81 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 KRT81 Q14533 KRT40 Homo sapiens Q6A162
Validated Y2H
32296183
Intra KRT81 Q14533 KRT40 Homo sapiens Q6A162
Validated Y2H
25416956
Intra KRT81 Q14533 KRT40 Homo sapiens Q6A162
Y2H Prey Pooling
32296183
Intra KRT81 Q14533 KRT40 Homo sapiens Q6A162
Y2H Array
32296183
Intra KRT81 Q14533 KRT40 Homo sapiens Q6A162
Y2H Array
25416956
Intra KRT81 Q14533 KRT37 Homo sapiens O76014
Y2H Array
32296183
Intra KRT81 Q14533 KRT37 Homo sapiens O76014
Y2H Prey Pooling
32296183
Intra KRT81 Q14533 KRT34 Homo sapiens O76011
Y2H Prey Pooling
32296183
Intra KRT81 Q14533 KRT34 Homo sapiens O76011
Y2H Array
32296183
Intra KRT81 Q14533 KRT38 Homo sapiens O76015
MAPPIT
25416956
Intra KRT81 Q14533 KRT38 Homo sapiens O76015
Y2H Array
32296183
Intra KRT81 Q14533 KRT38 Homo sapiens O76015
Y2H Prey Pooling
25416956
Intra KRT81 Q14533 KRT38 Homo sapiens O76015
Y2H Array
29892012
Intra KRT81 Q14533 KRT38 Homo sapiens O76015
Y2H Prey Pooling
32296183
Intra KRT81 Q14533 KRT35 Homo sapiens Q92764
Y2H Prey Pooling
32296183
Intra KRT81 Q14533 KRT35 Homo sapiens Q92764
Y2H Array
32296183
Intra KRT81 Q14533 KRT35 Homo sapiens Q92764
Validated Y2H
32296183
Intra KRT81 Q14533 ATN1 Homo sapiens Q86V38
Y2H Array
32814053
Intra KRT81 Q14533 ATN1 Homo sapiens Q86V38
Y2H Pooling
32814053
Intra KRT81 Q14533 ATN1 Homo sapiens Q86V38
Validated Y2H
32814053
Intra KRT81 Q14533 KRT39 Homo sapiens Q6A163
Y2H Prey Pooling
32296183
Intra KRT81 Q14533 KRT39 Homo sapiens Q6A163
Validated Y2H
32296183
Intra KRT81 Q14533 KRT39 Homo sapiens Q6A163
Y2H Array
32296183
Intra KRT81 Q14533 KRT28 Homo sapiens Q7Z3Y7
Y2H Array
32296183
Intra KRT81 Q14533 KRT28 Homo sapiens Q7Z3Y7
Validated Y2H
32296183
Intra KRT81 Q14533 KRT28 Homo sapiens Q7Z3Y7
Y2H Prey Pooling
32296183
Intra KRT81 Q14533 KRT26 Homo sapiens Q7Z3Y9
Y2H Prey Pooling
32296183
Intra KRT81 Q14533 KRT26 Homo sapiens Q7Z3Y9
Y2H Array
32296183
Intra KRT81 Q14533 KRT26 Homo sapiens Q7Z3Y9
Validated Y2H
32296183
Intra KRT81 Q14533 MEOX2 Homo sapiens Q6FHY5
Validated Y2H
32296183
Intra KRT81 Q14533 MEOX2 Homo sapiens Q6FHY5
Y2H Array
32296183
Intra KRT81 Q14533 MEOX2 Homo sapiens Q6FHY5
Y2H Prey Pooling
32296183
Intra KRT81 Q14533 KRT18 Homo sapiens P05783
Y2H Array
32296183
Intra KRT81 Q14533 KRT18 Homo sapiens P05783
Y2H Prey Pooling
32296183
Intra KRT81 Q14533 KRT27 Homo sapiens Q7Z3Y8
Y2H Prey Pooling
32296183
Intra KRT81 Q14533 KRT27 Homo sapiens Q7Z3Y8
Validated Y2H
32296183
Intra KRT81 Q14533 KRT27 Homo sapiens Q7Z3Y8
Y2H Array
32296183
Intra KRT81 Q14533 KRT16 Homo sapiens P08779
Y2H Array
32296183
Intra KRT81 Q14533 KRT16 Homo sapiens P08779
Y2H Prey Pooling
32296183
Intra KRT81 Q14533 CYSRT1 Homo sapiens A8MQ03
Y2H Prey Pooling
32296183
Intra KRT81 Q14533 CYSRT1 Homo sapiens A8MQ03
Y2H Array
32296183
Cross KRT81 Q14533 Hoxa1 Mus musculus P09022
BiFC
23088713
Cross KRT81 Q14533 Hoxa1 Mus musculus P09022
Pull Down
23088713
Intra KRT81 Q14533 OIP5 Homo sapiens O43482
Y2H Array
32296183
Intra KRT81 Q14533 OIP5 Homo sapiens O43482
Y2H Prey Pooling
32296183
Intra KRT81 Q14533 KRT14 Homo sapiens P02533
Y2H Array
32296183
Intra KRT81 Q14533 KRT14 Homo sapiens P02533
Y2H Prey Pooling
32296183
Intra KRT81 Q14533 KRT15 Homo sapiens P19012
Y2H Array
32296183
Intra KRT81 Q14533 KRT15 Homo sapiens P19012
Y2H Prey Pooling
32296183
Intra KRT81 Q14533 KXD1 Homo sapiens Q9BQD3
Pull Down
16189514
Intra KRT81 Q14533 KXD1 Homo sapiens Q9BQD3
Y2H Pooling
16189514
Intra KRT81 Q14533 OTX1 Homo sapiens P32242
Y2H Array
25416956
Intra KRT81 Q14533 OTX1 Homo sapiens P32242
Y2H Array
32296183
Intra KRT81 Q14533 OTX1 Homo sapiens P32242
Y2H Prey Pooling
25416956
Intra KRT81 Q14533 HOXA1 Homo sapiens P49639
Y2H Array
32296183
Intra KRT81 Q14533 HOXA1 Homo sapiens P49639
Y2H Prey Pooling
32296183
Intra KRT81 Q14533 KRT19 Homo sapiens P08727
Y2H Prey Pooling
32296183
Intra KRT81 Q14533 KRT19 Homo sapiens P08727
Y2H Array
32296183
Intra KRT81 Q14533 LCA5L Homo sapiens O95447
Y2H Prey Pooling
32296183
Intra KRT81 Q14533 LCA5L Homo sapiens O95447
Y2H Array
32296183
Intra KRT81 Q14533 KRT31 Homo sapiens Q15323
Validated Y2H
32296183
Intra KRT81 Q14533 KRT31 Homo sapiens Q15323
Y2H Prey Pooling
25416956
Intra KRT81 Q14533 KRT31 Homo sapiens Q15323
Y2H Prey Pooling
32296183
Intra KRT81 Q14533 KRT31 Homo sapiens Q15323
Y2H Array
25416956
Intra KRT81 Q14533 KRT31 Homo sapiens Q15323
Y2H Array
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
Monilethrix

Beaded Hair

MNLIX

Nodose Hair

Moniliform Hair Syndrome

Hair Disease

Hair Diseases

Hair Anomaly

Hair Disorder

Hair Problems

Pilomatrixoma

Pilomatricoma

PTR

Epithelioma Calcificans Of Malherbe

Benign Pilomatricoma

Calcifying Epithelioma Of Malherbe

Pilomatricoma, Somatic

Benign Pilomatrixoma

Malherbe Calcifying Epithelioma

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

Epidermolytic Hyperkeratosis

Bullous Congenital Ichthyosiform Erythroderma

Bullous Ichthyosiform Erythroderma

EHK

Bullous Erythroderma Ichthyosiformis Congenita Of Brocq

Bcie

Bie

Epidermolytic Ichthyosis

Ichthyosis Bullosa Of Siemens

Superficial Epidermolytic Ichthyosis

Hyperkeratosis, Epidermolytic

Congenital Bullous Ichthyosiform Erythroderma

Bullous Type Ichthyosis

Epidermolytic Palmoplantar Hyperkeratosis

Bullous Ichthyosiform Erythroderma Congenita

Bullous Erythroderma Ichthyosiforme

Sei

Epidermolytic Hyperkeratosis Late-Onset

Epidermolytic Hyperkeratosis, Late-Onset

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

Nonsyndromic Congenital Nail Disorder

Nail Disorder, Nonsyndromic Congenital

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

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
Mus musculus KRT81 MGD MGI:1928858
Rattus norvegicus KRT81 RGD RGD:1303316