1. Gene
  2. SUGCT - succinyl-CoA:glutarate-CoA transferase Gene

SUGCT - succinyl-CoA:glutarate-CoA transferase Gene

中文名称:琥珀酰辅酶 A:戊二酸辅酶 A 转移酶

种属: Homo sapiens

同用名: GA3; ORF19; DERP13; C7orf10

基因 ID: 79783 | 基因类型: protein coding

关于 SUGCT

Cytogenetic location: 7p14.1 Genomic coordinates (GRCh38): 7:40,135,005-41,038,816 (from NCBI)

This gene has 9 transcripts (splice variants), 202 orthologues, 1 paralogue and is associated with 2 phenotypes. Biased expression in kidney (RPKM 3.4), liver (RPKM 1.2) and 12 other tissues.

功能概要

该基因编码的蛋白质类似于 CaiB/baiF CoA 转移酶蛋白家族的成员。该基因的突变与 III 型戊二酸尿症有关。交替剪接导致多个转录本变体。[RefSeq 提供,2010 年 7 月]

This gene encodes a protein that is similar to members of the CaiB/baiF CoA-transferase protein family. Mutations in this gene are associated with glutaric aciduria type III. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]

SUGCT 基因产物(4)

mRNA Protein Name
NM_001193311.2 NP_001180240.2 succinate--hydroxymethylglutarate CoA-transferase isoform 1
NM_001193312.2 NP_001180241.2 succinate--hydroxymethylglutarate CoA-transferase isoform 2
NM_001193313.2 NP_001180242.2 succinate--hydroxymethylglutarate CoA-transferase isoform 3
NM_024728.3 NP_079004.2 succinate--hydroxymethylglutarate CoA-transferase isoform 4
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables succinate-hydroxymethylglutarate CoA-transferase activity IDA
IDA: 通过直接分析推断
23893049 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrion IDA
IDA: 通过直接分析推断
23893049 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

SUGCT 蛋白结构

CoA_transf_3

CoA_transf_3: CoA-transferase family III (113 - 299)

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

succinate--hydroxymethylglutarate CoA-transferase

Russel-Silver syndrome candidate

关联疾病

疾病名称 别名
Glutaric Aciduria Iii

Glutaryl-Coa Oxidase Deficiency

Ga Iii

Glutaric Acidemia Type 3

GA3

Glutaric Aciduria Type 3

Glutaric Aciduria 3

Glutaric Acidemia Type Iii

Glutaric Aciduria Type Iii

Trichothiodystrophy

Ttd

Amish Brittle Hair Syndrome

Bids Syndrome

Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome

Ibids

Pibids

Trichothiodystrophy Syndromes

Robinow Syndrome, Autosomal Dominant 3

Autosomal Dominant Robinow Syndrome 3

DRS3

Robinow, Autosomal Dominant Syndrome, Type 3

Desmoid Disease, Hereditary

Fif

DESMD

Hereditary Desmoid Disease

Familial Infiltrative Fibromatosis

Fibromatosis, Familial Infiltrative

Fibromatosis, Aggressive

Amyotrophic Lateral Sclerosis 4, Juvenile

Amyotrophic Lateral Sclerosis Type 4

ALS4

Amyotrophic Lateral Sclerosis 4

Dhmn With Upper Motor Neuron Signs

Distal Hereditary Motor Neuropathy With Upper Motor Neuron Signs

Neuronopathy, Distal Hereditary Motor, With Pyramidal Features

Als 4

Distal Hereditary Motor Neuropathy With Pyramidal Features

Amyotrophic Lateral Sclerosis Juvenile 4

Neuronopathy Distal Hereditary Motor With Pyramidal Features

Sclerosis, Lateral, Amyotrophic, Type Type 4

Amyotrophic Lateral Sclerosis Type 6

Amyotrophic Lateral Sclerosis 6, Autosomal Recessive

Als6

Amyotrophic Lateral Sclerosis 6, With Or Without Frontotemporal Dementia

Autosomal Recessive Amyotrophic Lateral Sclerosis 6

Sclerosis, Lateral, Amyotrophic, Type Type 6

Amyotrophic Lateral Sclerosis 6

Nephronophthisis 3

NPHP3

Nph3

Adolescent Nephronophthisis

Nephronophthisis, Type 3

Glutaric Acidemia I

Glutaryl-Coa Dehydrogenase Deficiency

GA1

Glutaric Acidemia Type 1

Glutaric Aciduria 1

Glutaric Aciduria Type 1

Glutaric Acidemia Type I

Glutaric Aciduria, Type 1

Glutaric Aciduria I

Ga I

Glutaricaciduria, Type I

Glutaryl-Coenzyme A Dehydrogenase Deficiency

Glutaric Academia Type 1

Glutaric Aciduria Type I

Ga-1

Gcdh Deficiency

Ga 1

Glutaric Acidemia 1

Gcdhd

Glutaric Aciduria, Type I

Glutaricaciduria I

Ga-I

Glutaricaciduria, Type 1

Migraine With Or Without Aura 1

Migraine

Migraine With Or Without Aura, Susceptibility To, 1

Migraine Disorder

Migraine Variant

Migraines

Migraine Disorders

Mgr1

Mgau

Ma

Migraine With Or Without Aura

Classic Migraine

Common Migraine

Disorder, Migraine

Headache Migraine

Headache Migrainous

Migraine Headache

Migraine Syndrome

Headache Including Migraine

Migraine, Susceptibility To

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 SUGCT MGD MGI:1923221
Rattus norvegicus SUGCT RGD RGD:1308114
Macaca mulatta SUGCT VGNC VGNC:81767
Bos taurus SUGCT VGNC VGNC:35462
Canis familiaris SUGCT VGNC VGNC:52052
Felis catus SUGCT VGNC VGNC:80727