2. Gene
  3. TTC3 - tetratricopeptide repeat domain 3 Gene

TTC3 - tetratricopeptide repeat domain 3 Gene

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

中文名称：四肽重复结构域 3

种属: Homo sapiens

同用名: DCRR1; RNF105; TPRDIII

基因 ID: 7267 | 基因类型: protein coding

关于 TTC3

Cytogenetic location: 21q22.13 Genomic coordinates (GRCh38): 21:37,073,254-37,203,118 (from NCBI)

This gene has 26 transcripts (splice variants) and 233 orthologues. Ubiquitous expression in brain (RPKM 28.4), thyroid (RPKM 22.3) and 25 other tissues.

功能概要

启用泛素蛋白转移酶活性。参与蛋白 K48 相关泛素化和泛素依赖性蛋白分解代谢过程。位于胞质溶胶中；核仁;和核质。 [由基因组资源联盟提供，2022 年 4 月]

Enables ubiquitin-protein transferase activity. Involved in protein K48-linked ubiquitination and ubiquitin-dependent protein catabolic process. Located in cytosol; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

TTC3 基因产物(10)

mRNA Protein Name
NM_001001894.3 NP_001001894.1 E3 ubiquitin-protein ligase TTC3 isoform 1
NM_001320703.2 NP_001307632.1 E3 ubiquitin-protein ligase TTC3 isoform 3
NM_001320704.2 NP_001307633.1 E3 ubiquitin-protein ligase TTC3 isoform 2
NM_001330681.2 NP_001317610.1 E3 ubiquitin-protein ligase TTC3 isoform 4
NM_001330682.2 NP_001317611.1 E3 ubiquitin-protein ligase TTC3 isoform 4
NM_001330683.2 NP_001317612.1 E3 ubiquitin-protein ligase TTC3 isoform 1
NM_001353936.2 NP_001340865.1 E3 ubiquitin-protein ligase TTC3 isoform 4
NM_001353937.2 NP_001340866.1 E3 ubiquitin-protein ligase TTC3 isoform 5
NM_001353938.2 NP_001340867.1 E3 ubiquitin-protein ligase TTC3 isoform 5
NM_003316.4 NP_003307.3 E3 ubiquitin-protein ligase TTC3 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 protein binding IPI
IPI: 通过物理相互作用推断
20059950 GOA
enables ubiquitin-protein transferase activity IDA
IDA: 通过直接分析推断
20059950 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein K48-linked ubiquitination IDA
IDA: 通过直接分析推断
20059950 GOA
involved in ubiquitin-dependent protein catabolic process IDA
IDA: 通过直接分析推断
20059950 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
20059950 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

TTC3 蛋白结构

TPR_11

TPR_11: TPR repeat (233 - 291)

TPR_1

TPR_1: Tetratricopeptide repeat (578 - 603)

zf-RING_2

zf-RING_2: Ring finger domain (1956 - 1996)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2025 a.a.
蛋白主名 其他名称

E3 ubiquitin-protein ligase TTC3

RING finger protein 105

关联疾病

疾病名称 别名
Down Syndrome

Trisomy 21

Complete Trisomy 21 Syndrome

Down'S Syndrome

Trisomy 21 Syndrome

Down'S Syndrome - Trisomy 21

Downs Syndrome

G Trisomy

47,Xx,+21

47,Xy,+21

Trisomy G

Down Syndrome, Susceptibility To

Chromosome 21 Trisomy

Trisomy 21 Nos

Abnormal Autosomes 21
Intellectual Developmental Disorder, Autosomal Dominant 7

MRD7

Mental Retardation, Autosomal Dominant 7

Autosomal Dominant Non-Syndromic Intellectual Disability 7

Dyrk1a Syndrome

Autosomal Dominant Intellectual Developmental Disorder 7

Autosomal Dominant Mental Retardation 7

Mental Retardation, Autosomal Dominant, Type 7
Cataract 4, Multiple Types

Cataract 4 Multiple Types

CTRCT4

Cca3

Pcc

Aculeiform Cataract

Cataract 4, Multiple Types, With Or Without Microcornea

Cataract, Crystalline Aculeiform

Caca

Cataract, Congenital, Cerulean Type, 3

Congenital Cataract Cerulean Type 3

Cataract Congenital Dominant Non Nuclear

Ccp

Cataract, Nonnuclear Polymorphic Congenital

Cataract, Punctate, Progressive Juvenile-Onset

Cataract 4 Multiple Types With Or Without Microcornea

Autosomal Dominant Nonnuclear Polymorphic Congenital Cataract

Cataract, Polymorphic Congenital

Congenital Cataract Blue Dot Type 3

Congenital Non-Nuclear Polymorphic Cataract

Crystalline Aculeiform Cataract

Punctate, Progressive Juvenile-Onset, Cataract

Cataract, Nonnuclear Polymorphic Congenital, Autosomal Dominant
Chromosomal Duplication Syndrome
Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis
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-RS15208 TTC3 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus TTC3 VGNC VGNC:36469
Canis familiaris TTC3 VGNC VGNC:47950
Mus musculus TTC3 MGD MGI:1276539
Rattus norvegicus TTC3 RGD RGD:1308654
Macaca mulatta TTC3 VGNC VGNC:81785
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