1. Gene
  2. TRIM8 - tripartite motif containing 8 Gene

TRIM8 - tripartite motif containing 8 Gene

中文名称:含三联基序 8

种属: Homo sapiens

同用名: GERP; RNF27; FSGSNEDS

基因 ID: 81603 | 基因类型: protein coding

关于 TRIM8

Cytogenetic location: 10q24.32 Genomic coordinates (GRCh38): 10:102,644,479-102,658,319 (from NCBI)

This gene has 15 transcripts (splice variants), 265 orthologues, 80 paralogues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 42.3), fat (RPKM 41.8) and 25 other tissues.

功能概要

该基因编码三联基序 (tripartite motif, TRIM) 蛋白家族的成员。基于与其他蛋白质的相似性,所编码的蛋白质被怀疑是一种 E3 泛素蛋白连接酶。在某些癌症中,该基因的调控可能会发生改变。在早发性癫痫性脑病 (EOEE) 中观察到导致截短蛋白产物的突变。[RefSeq 提供,2016 年 9 月]

This gene encodes a member of the tripartite motif (TRIM) protein family. Based on similarities to other proteins, the encoded protein is suspected to be an E3 ubiquitin-protein Ligase. Regulation of this gene may be altered in some cancers. Mutations resulting in a truncated protein product have been observed in early-onset epileptic encephalopathy (EOEE). [provided by RefSeq, Sep 2016]

TRIM8 基因产物(2)

mRNA Protein Name
NM_001345950.1 NP_001332879.1 E3 ubiquitin-protein ligase TRIM8 isoform 2
NM_030912.3 NP_112174.2 E3 ubiquitin-protein ligase TRIM8 isoform 1
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 identical protein binding IPI
IPI: 通过物理相互作用推断
22493164 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19549727 GOA
enables protein homodimerization activity IPI
IPI: 通过物理相互作用推断
11331580 GOA
enables transcription coactivator activity IDA
IDA: 通过直接分析推断
23077300 GOA
enables ubiquitin protein ligase activity IDA
IDA: 通过直接分析推断
27995356 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in PML body IDA
IDA: 通过直接分析推断
11331580 GOA
is active in cytoplasm IDA
IDA: 通过直接分析推断
23152791 GOA
located in nucleus IMP
IMP: 通过突变表型推断
33508234 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

TRIM8 蛋白结构

zf-C3HC4_4

zf-C3HC4_4: zinc finger of C3HC4-type, RING (15 - 55)

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

E3 ubiquitin-protein ligase TRIM8

RING-type E3 ubiquitin transferase TRIM8

TRIM8 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 TRIM8 Q9BZR9 FAM124B Homo sapiens Q9H5Z6-2
Validated Y2H
32296183
Intra TRIM8 Q9BZR9 TRIM8 Homo sapiens Q9BZR9
Y2H
22829933
Intra TRIM8 Q9BZR9 TRIM8 Homo sapiens Q9BZR9
Anti Tag CoIP
22493164
Intra TRIM8 Q9BZR9 UBE2D4 Homo sapiens Q9Y2X8
Validated Y2H
32296183
Intra TRIM8 Q9BZR9 TRIM8 Homo sapiens Q9BZR9
Y2H Array
22493164
Intra TRIM8 Q9BZR9 YOD1 Homo sapiens Q5VVQ6
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
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome

FSGSNEDS

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Developmental And Epileptic Encephalopathy 94

Epileptic Encephalopathy, Childhood-Onset

Eeoc

DEE94

Childhood Onset Epileptic Encephalopathy

Encephalopathy, Epileptic, Childhood-Onset

Myoclonic Epilepsy, Juvenile 4

EJM4

Myoclonic Epilepsy, Juvenile, Susceptibility To, 4

Myoclonic Epilepsy, Juvenile, 4

Juvenile Myoclonic Epilepsy 4

Retinitis Pigmentosa 77

RP77

Retinitis Pigmentosa, Type 77

Autosomal Recessive Nonsyndromic Deafness 32

Deafness, Autosomal Recessive 32

Autosomal Recessive Deafness 105

Autosomal Recessive Deafness 32

Dfnb32

Hearing Impairment Infertile Male Syndrome

Hiims

Deafness, Autosomal Recessive, Type 32

Geleophysic Dysplasia 2

GPHYSD2

Geleophysic Dwarfism

Dysplasia, Geleophysic, Type 2

Geleophysic Dysplasia

Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome 11

CMS11

Cms Ie

Cms1e

Myasthenic Syndrome, Congenital, Ie

Myasthenic Syndrome, Congenital, Ie, Formerly

Cms1e, Formerly

Cms Ie, Formerly

Congenital Myasthenic Syndrome 11 Associated With Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome 1e

Myasthenic Syndrome, Congenital, Type 11, Associated With Acetylcholine Receptor Deficiency

Alternating Esotropia
Pontocerebellar Hypoplasia, Type 2d

Pontocerebellar Hypoplasia Type 2d

Pcca

PCH2D

Progressive Cerebello-Cerebral Atrophy

Cerebellocerebral Atrophy, Progressive

Pontocerebellar Hypoplasia 2d

Progressive Cerebellocerebral Atrophy

Hypoplasia, Pontocerebellar, Type 2d

Lethal Congenital Contracture Syndrome 4

LCCS4

Contracture Syndrome, Lethal, Congenital, Type 4

Sweeney-Cox Syndrome

SWCOS

Larsen-Like Syndrome B3gat3 Type

Larsen-Like Syndrome, B3gat3 Type

Multiple Joint Dislocations-Short Stature-Craniofacial Dysmorphism-Congenital Heart Defects Syndrome

Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Congenital Heart Defects

Joint Dislocations, Multiple, Short Stature, Craniofacial Dysmorphism, Congenital Heart Defects

Glioblastoma

Glioblastoma Multiforme

Gbm

Adult Glioblastoma Multiforme

Grade Iv Adult Astrocytic Tumor

Primary Glioblastoma Multiforme

Spongioblastoma Multiforme

Adult Glioblastoma

Primary Glioblastoma

Deafness, Autosomal Recessive 110

DFNB110

Autosomal Recessive Nonsyndromic Deafness 110

Autosomal Recessive Deafness 110

Deafness, Autosomal Recessive, 110

Esotropia

Convergence In Manifest Squint

Crossed Eyes

Internal Strabismus

Convergent Concomitant Strabismus

Convergent Squint

Convergent Strabismus

Cross-Eye

Ciliary Dyskinesia, Primary, 4

Primary Ciliary Dyskinesia 4

CILD4

Ciliary Dyskinesia, Primary, 4, With Or Without Situs Inversus

Primary Ciliary Dyskinesia 4 With Or Without Situs Inversus

Primary Ciliary Dyskinesia, 4

Ciliary Dyskinesia, Primary, 8

Primary Ciliary Dyskinesia 8

CILD8

Ciliary Dyskinesia, Primary, 8, With Or Without Situs Inversus

Primary Ciliary Dyskinesia 8 With Or Without Situs Inversus

Developmental And Epileptic Encephalopathy 11

Epileptic Encephalopathy, Early Infantile, 11

DEE11

Eiee11

Developmental And Epileptic Encephalopathy, 11

Early Infantile Epileptic Encephalopathy 11

Encephalopathy, Developmental And Epileptic, Type 11

Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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 TRIM8 VGNC VGNC:47839
Bos taurus TRIM8 VGNC VGNC:36352
Mus musculus TRIM8 MGD MGI:1933302
Felis catus TRIM8 VGNC VGNC:66555
Macaca mulatta TRIM8 VGNC VGNC:78979
Rattus norvegicus TRIM8 RGD RGD:1585223