FAM83H - family with sequence similarity 83 member H Gene

中文名称：具有序列相似性的家族 83 成员 H

种属: Homo sapiens

同用名: AI3; AI3A

基因 ID: 286077 | 基因类型: protein coding

关于 FAM83H

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:143,723,933-143,733,779 (from NCBI)

This gene has 3 transcripts (splice variants), 1 gene allele, 266 orthologues, 7 paralogues and is associated with 2 phenotypes. Broad expression in skin (RPKM 7.7), esophagus (RPKM 6.0) and 20 other tissues.

功能概要

该基因编码的蛋白质在牙釉质的结构发育和钙化中起着重要作用。该基因的缺陷是导致 3 型釉质发育不全 (AI3) 的原因。[RefSeq 提供，2010 年 3 月]

The protein encoded by this gene plays an important role in the structural development and calcification of tooth enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). [provided by RefSeq, Mar 2010]

FAM83H 基因产物(1)

mRNA	Protein	Name
NM_198488.5	NP_940890.4	protein FAM83H

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 keratin filament binding	IDA IDA: 通过直接分析推断	23902688	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	23455922	GOA
enables protein kinase binding	IPI IPI: 通过物理相互作用推断	23902688	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in intermediate filament cytoskeleton organization	IMP IMP: 通过突变表型推断	23902688	GOA
involved in positive regulation of cell migration	IMP IMP: 通过突变表型推断	23902688	GOA
involved in protein localization to cytoskeleton	IMP IMP: 通过突变表型推断	23902688	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
colocalizes with keratin filament	IDA IDA: 通过直接分析推断	23902688	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

FAM83H 蛋白结构

DUF1669

0
200
400
600
800
1000
1179 a.a.

蛋白主名

其他名称

protein FAM83H

FAM83H 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	FAM83H	Q6ZRV2	CSNK1A1	Homo sapiens	P48729	Anti Tag CoIP	29789297
Intra	FAM83H	Q6ZRV2	CSNK1A1	Homo sapiens	P48729	IF	29789297
Intra	FAM83H	Q6ZRV2	CSNK1A1	Homo sapiens	P48729	Anti Tag CoIP	26496610

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

Amelogenesis Imperfecta, Type Iiia

Ai3	Adhcai
Amelogenesis Imperfecta Type 3	AI3A
Amelogenesis Imperfecta, Type Iii	Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Dominant
Amelogenesis Imperfecta Type 3a	Amelogenesis Imperfecta Hypomineralization Type
Amelogenesis Imperfecta Type Iii	Hypocalcified Amelogenesis Imperfecta
Amelogenesis Imperfecta, Type 3	Amelogenesis Imperfecta, Hypomineralization Type
Autosomal Dominant Amelogenesis Imperfecta Hypocalcification Type	Amelogenesis Imperfecta 3a
Amelogenesis Imperfecta Hypocalcification Type Autosomal Dominant

Amelogenesis Imperfecta

Ai	Congenital Enamel Hypoplasia
Al - [Amelogenesis Imperfecta]

Non-Invasive Bladder Urothelial Carcinoma

Stage 0 Bladder Urothelial Carcinoma

Amelogenesis Imperfecta, Type Iiic

AI3C	Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Recessive
Amelogenesis Imperfecta Type 3c	Amelogenesis Imperfecta, Type 3c
Amelogenesis Imperfecta Type Iiic	Autosomal Recessive Amelogenesis Imperfecta Hypocalcification Type
Amelogenesis Imperfecta 3c

Brain Oligodendroglioma

Oligodendroglioma Of Brain

Jalili Syndrome

Cone-Rod Dystrophy And Amelogenesis Imperfecta	Cone Rod Dystrophy-Amelogenesis Imperfecta Syndrome
Cone-Rod Dystrophy Amelogenesis Imperfecta	Cone-Rod Dystrophy With Amelogenesis Imperfecta
JALIS	Cone Rod Dystrophy Amelogenesis Imperfecta

Teeth Hard Tissue Disease

Hypercementosis

Cementation Hyperplasia

Amelogenesis Imperfecta, Type Iv

AI4	Aihht
Amelogenesis Imperfecta Type 4	Hypomaturation-Hypoplastic Amelogenesis Imperfecta With Taurodontism
Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, With Taurodontism	Amelogenesis Imperfecta Hypomaturation-Hypoplastic Type With Taurodontism
Amelogenesis Imperfecta 4	Ait
Amelogenesis Imperfecta 2 Hypocalcification Type	Amelogenesis Imperfecta Hypomineralization Type
Amelogenesis Imperfecta Type Iv	Amelogenesis Imperfecta With Taurodontism

Trichodentoosseous Syndrome

Tricho-Dento-Osseous Syndrome	Tdo Syndrome
Trichodontoosseous Syndrome	TDO
Enamel Hypoplasia And Hypocalcification With Associated Strikingly Curly Hair

Vexas Syndrome

VEXAS	Vexas Syndrome, Somatic
Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory And Somatic Syndrome	Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic Syndrome
Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic

Junctional Epidermolysis Bullosa

Epidermolysis Bullosa, Junctional	Jeb
Epidermolysis Bullosa Atrophicans	Congenital Junctional Epidermolysis Bullosa
Epidermolysis Bullosa Junctional	Junctional Eb - [Epidermolysis Bullosa]
Jeb - [Junctional Epidermolysis Bullosa]	Lucidolytic Epidermolysis Bullosa

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS04726	FAM83H Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	FAM83H	VGNC	VGNC:72336
Felis catus	FAM83H	VGNC	VGNC:62134
Rattus norvegicus	FAM83H	RGD	RGD:1305866
Mus musculus	FAM83H	MGD	MGI:2145900
Bos taurus	FAM83H	VGNC	VGNC:28839
Canis familiaris	FAM83H	VGNC	VGNC:40705

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