2. Gene
  3. KRT83 - keratin 83 Gene

KRT83 - keratin 83 Gene

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

中文名称：角蛋白 83

种属: Homo sapiens

同用名: HB3; Hb-3; EKVP5; MNLIX; KRTHB3

基因 ID: 3889 | 基因类型: protein coding

关于 KRT83

Cytogenetic location: 12q13.13 Genomic coordinates (GRCh38): 12:52,314,301-52,321,398 (from NCBI)

This gene has 1 transcript (splice variant), 43 orthologues, 68 paralogues and is associated with 5 phenotypes. Low expression observed in reference dataset.

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 KRTHB1 和 KRTHB6 主要存在于毛发皮质中。[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 KRTHB1 and KRTHB6, is found primarily in the hair cortex. [provided by RefSeq, Jul 2008]

KRT83 基因产物(1)

mRNA Protein Name
NM_002282.3 NP_002273.3 keratin, type II cuticular Hb3
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
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in hair cycle IDA
IDA: 通过直接分析推断
21916889 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

KRT83 蛋白结构

Filament

Filament: Intermediate filament protein (110 - 421)

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

keratin, type II cuticular Hb3

K83

KRT83 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 KRT83 P78385 KRT40 Homo sapiens Q6A162
Validated Y2H
32296183
Intra KRT83 P78385 KRT40 Homo sapiens Q6A162
Y2H Prey Pooling
32296183
Intra KRT83 P78385 KRT40 Homo sapiens Q6A162
Y2H Array
32296183
Intra KRT83 P78385 KRTAP10-9 Homo sapiens P60411
Validated Y2H
25416956
Intra KRT83 P78385 KRTAP10-7 Homo sapiens P60409
Validated Y2H
25416956
Intra KRT83 P78385 CREB5 Homo sapiens Q02930-3
Validated Y2H
32296183
Intra KRT83 P78385 KRTAP13-3 Homo sapiens Q3SY46
Y2H Array
32296183
Intra KRT83 P78385 KRTAP13-3 Homo sapiens Q3SY46
Validated Y2H
32296183
Intra KRT83 P78385 KRTAP13-3 Homo sapiens Q3SY46
Y2H Prey Pooling
32296183
Intra KRT83 P78385 KRT37 Homo sapiens O76014
Y2H Array
32296183
Intra KRT83 P78385 KRT37 Homo sapiens O76014
Y2H Prey Pooling
32296183
Intra KRT83 P78385 KRT34 Homo sapiens O76011
Y2H Array
32296183
Intra KRT83 P78385 KRT34 Homo sapiens O76011
Y2H Prey Pooling
32296183
Intra KRT83 P78385 KRT38 Homo sapiens O76015
Validated Y2H
25416956
Intra KRT83 P78385 KRT38 Homo sapiens O76015
Y2H Array
32296183
Intra KRT83 P78385 KRT38 Homo sapiens O76015
Y2H Prey Pooling
25416956
Intra KRT83 P78385 KRT38 Homo sapiens O76015
Y2H Array
29892012
Intra KRT83 P78385 KRT38 Homo sapiens O76015
Y2H Prey Pooling
32296183
Intra KRT83 P78385 KRT33B Homo sapiens Q14525
Validated Y2H
32296183
Intra KRT83 P78385 KRT33B Homo sapiens Q14525
Y2H Prey Pooling
32296183
Intra KRT83 P78385 KRT33B Homo sapiens Q14525
Y2H Array
32296183
Intra KRT83 P78385 KRTAP11-1 Homo sapiens Q8IUC1
Y2H Prey Pooling
32296183
Intra KRT83 P78385 KRTAP11-1 Homo sapiens Q8IUC1
Validated Y2H
32296183
Intra KRT83 P78385 KRTAP11-1 Homo sapiens Q8IUC1
Y2H Array
32296183
Intra KRT83 P78385 KRT35 Homo sapiens Q92764
Y2H Prey Pooling
32296183
Intra KRT83 P78385 KRT35 Homo sapiens Q92764
Y2H Array
32296183
Intra KRT83 P78385 KRT35 Homo sapiens Q92764
Validated Y2H
32296183
Intra KRT83 P78385 NRF1 Homo sapiens Q16656-4
Validated Y2H
32296183
Intra KRT83 P78385 CEP57 Homo sapiens Q86XR8-3
Validated Y2H
32296183
Intra KRT83 P78385 CEP57 Homo sapiens Q86XR8-3
Y2H Array
32296183
Intra KRT83 P78385 CEP57 Homo sapiens Q86XR8-3
Y2H Prey Pooling
32296183
Intra KRT83 P78385 ANKS1A Homo sapiens Q49AR9
Validated Y2H
32296183
Intra KRT83 P78385 KRT39 Homo sapiens Q6A163
Y2H Array
32296183
Intra KRT83 P78385 KRT39 Homo sapiens Q6A163
Y2H Prey Pooling
32296183
Intra KRT83 P78385 KRT39 Homo sapiens Q6A163
Validated Y2H
32296183
Intra KRT83 P78385 KRTAP6-2 Homo sapiens Q3LI66
Y2H Prey Pooling
32296183
Intra KRT83 P78385 KRTAP6-2 Homo sapiens Q3LI66
Validated Y2H
32296183
Intra KRT83 P78385 KRTAP6-2 Homo sapiens Q3LI66
Y2H Array
32296183
Intra KRT83 P78385 GNE Homo sapiens Q9Y223-2
Validated Y2H
32296183
Intra KRT83 P78385 KRT25 Homo sapiens Q7Z3Z0
Validated Y2H
32296183
Intra KRT83 P78385 KRT25 Homo sapiens Q7Z3Z0
Y2H Array
32296183
Intra KRT83 P78385 KRT25 Homo sapiens Q7Z3Z0
Y2H Prey Pooling
32296183
Intra KRT83 P78385 PLEKHN1 Homo sapiens Q494U1-3
Validated Y2H
32296183
Intra KRT83 P78385 MEOX2 Homo sapiens Q6FHY5
Y2H Array
32296183
Intra KRT83 P78385 MEOX2 Homo sapiens Q6FHY5
Y2H Prey Pooling
32296183
Intra KRT83 P78385 MEOX2 Homo sapiens Q6FHY5
Validated Y2H
32296183
Intra KRT83 P78385 POU4F2 Homo sapiens Q12837
Y2H Prey Pooling
32296183
Intra KRT83 P78385 POU4F2 Homo sapiens Q12837
Y2H Array
32296183
Intra KRT83 P78385 POU4F2 Homo sapiens Q12837
Validated Y2H
32296183
Intra KRT83 P78385 NOTCH2NLC Homo sapiens P0DPK4
Y2H Prey Pooling
32296183
Intra KRT83 P78385 NOTCH2NLC Homo sapiens P0DPK4
Y2H Array
32296183
Intra KRT83 P78385 ZDHHC1 Homo sapiens Q8WTX9
Validated Y2H
32296183
Intra KRT83 P78385 KRT27 Homo sapiens Q7Z3Y8
Validated Y2H
32296183
Intra KRT83 P78385 KRT27 Homo sapiens Q7Z3Y8
Y2H Array
32296183
Intra KRT83 P78385 KRT27 Homo sapiens Q7Z3Y8
Y2H Prey Pooling
32296183
Intra KRT83 P78385 KRT16 Homo sapiens P08779
Y2H Prey Pooling
32296183
Intra KRT83 P78385 KRT16 Homo sapiens P08779
Y2H Array
32296183
Intra KRT83 P78385 CYSRT1 Homo sapiens A8MQ03
Y2H Prey Pooling
32296183
Intra KRT83 P78385 CYSRT1 Homo sapiens A8MQ03
Y2H Array
32296183
Intra KRT83 P78385 KRTAP3-3 Homo sapiens Q9BYR6
Validated Y2H
32296183
Intra KRT83 P78385 KRTAP3-3 Homo sapiens Q9BYR6
MAPPIT
32296183
Intra KRT83 P78385 KRTAP3-3 Homo sapiens Q9BYR6
Y2H Array
32296183
Intra KRT83 P78385 KRTAP3-3 Homo sapiens Q9BYR6
Y2H Prey Pooling
32296183
Intra KRT83 P78385 KRTAP3-3 Homo sapiens Q9BYR6
Complementation
32296183
Intra KRT83 P78385 OIP5 Homo sapiens O43482
Y2H Array
32296183
Intra KRT83 P78385 OIP5 Homo sapiens O43482
Y2H Prey Pooling
32296183
Intra KRT83 P78385 C11orf87 Homo sapiens Q6NUJ2
Validated Y2H
32296183
Intra KRT83 P78385 KRT15 Homo sapiens P19012
Y2H Prey Pooling
32296183
Intra KRT83 P78385 KRT15 Homo sapiens P19012
Y2H Array
32296183
Intra KRT83 P78385 OTX1 Homo sapiens P32242
Y2H Array
32296183
Intra KRT83 P78385 OTX1 Homo sapiens P32242
Y2H Prey Pooling
32296183
Intra KRT83 P78385 HOXA1 Homo sapiens P49639
Y2H Prey Pooling
32296183
Intra KRT83 P78385 HOXA1 Homo sapiens P49639
Y2H Array
32296183
Intra KRT83 P78385 KRT19 Homo sapiens P08727
Y2H Array
32296183
Intra KRT83 P78385 KRT19 Homo sapiens P08727
Y2H Prey Pooling
32296183
Intra KRT83 P78385 KRT31 Homo sapiens Q15323
Validated Y2H
32296183
Intra KRT83 P78385 KRT31 Homo sapiens Q15323
Y2H Array
32296183
Intra KRT83 P78385 KRT31 Homo sapiens Q15323
Validated Y2H
25416956
Intra KRT83 P78385 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
Monilethrix

Beaded Hair

MNLIX

Nodose Hair

Moniliform Hair Syndrome
Erythrokeratodermia Variabilis Et Progressiva 5

EKVP5

Erythrokeratodermia Variabilis
Erythrokeratodermia Variabilis Et Progressiva 1

Erythrokeratodermia Variabilis

Erythrokeratodermia Variabilis Et Progressiva

Greither Disease

Ekv

Ekvp

PSEK

Erythrokeratodermia Variabilis With Erythema Gyratum Repens

Keratosis Palmoplantaris Transgrediens Et Progrediens

Transgrediens Et Progrediens Palmoplantar Keratoderma

EKVP1

Erythrokeratodermia, Progressive Symmetric

Erythrokeratodermia Figurata, Congenital Familial, In Plaques

Keratoderma Palmoplantaris Transgrediens

Keratosis Extremitatum Hereditaria Progrediens

Erythrokeratodermia Variabilis, Mendes Da Costa Type

Progressive Symmetric Erythrokeratodermia

Erythrokeratodermia Figurata Variabilis

Greither'S Disease

Ekv-P

Erythrokeratodermia Variabilis Of Mendes Da Costa

Progressive Symmetrical Erythrokeratoderma Of Gottron

Progressive Diffuse Ppk

Progressive Diffuse Palmoplantar Keratoderma

Transgrediens Et Progrediens Ppk

Darier-Gottron Disease

Erythrokeratodermia Progressiva Symmetrica

Progressive Symmetric Erythrokeratodermia, Gottron Type

Congenital Familial Erythrokeratodermia Figurata In Plaques

Erythrokeratodermia Progressive Symmetric

Erythrokeratodermia Variabilis Mendes Da Costa Type
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
Naegeli-Franceschetti-Jadassohn Syndrome

Naegeli Syndrome

Nfj Syndrome

NFJS

Reticular Skin Changes, Dental Anomalies, Decreased Function Of Sweat Glands, Strabismus, And Optic Atrophy

Naegeli-Franceschetti-Jadassohn Syndrome/Dermatopathia Pigmentosa Reticularis

Dpr

Franceschetti-Jadassohn Syndrome

Nfjs/Dpr
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
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate

Hay-Wells Syndrome

Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome

Aec Syndrome

AEC

Ankyloblepharon-Ectodermal Defects-Cleft Lip And Palate Syndrome

Seres-Santamaria Arimany Muniz Syndrome

Cleft Palate, Ankyloblepharon, Alveolar Synechiae, And Ectodermal Defects

Ankyloblepharon Ectodermal Defects Cleft Lip/Palate

Ankyloblepharon-Ectodermal Defect-Cleft Lip/Palate

Rapp-Hodgkin Syndrome
Hair Disease

Hair Diseases

Hair Anomaly

Hair Disorder

Hair Problems
Alopecia
Dermatopathia Pigmentosa Reticularis

DPR
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
Atrichia With Papular Lesions

Papular Atrichia

APL

Congenital Atrichia
Vohwinkel Syndrome

Mutilating Keratoderma

Keratoderma Hereditarium Mutilans

Khm

VOWNKL

Deafness, Congenital, With Keratopachydermia And Constrictions Of Fingers And Toes

Mutilating Keratoderma Of Vohwinkel

Mutilating Keratoderma Plus Deafness

Ppk Mutilans And Deafness

Congenital Deafness With Keratopachydermia And Constrictions Of Fingers And Toes

Congenital Deafness With Keratopachydermia And Constrictions Fo Fingers And Toes

Palmoplantar Keratoderma Mutilans

Palmoplantar Keratoderma Mutilans Vohwinkel

Ppk Mutilans Vohwinkel

Mutilating Keratoderma Plus Hearing Loss

Ppk Mutilans And Hearing Loss
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
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

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-RS07470 KRT83 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 KRT83 RGD RGD:1583565
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