MCCC1 - methylcrotonyl-CoA carboxylase subunit 1 Gene

中文名称：甲基巴豆酰辅酶 A 羧化酶亚基 1

种属: Homo sapiens

同用名: MCCA; MCC-B; MCCCalpha

基因 ID: 56922 | 基因类型: protein coding

关于 MCCC1

Cytogenetic location: 3q27.1 Genomic coordinates (GRCh38): 3:183,015,218-183,116,196 (from NCBI)

This gene has 14 transcripts (splice variants), 202 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 22.0), kidney (RPKM 20.5) and 25 other tissues.

功能概要

该基因编码 3-甲基巴豆酰辅酶 A 羧化酶的大亚基。该酶作为异二聚体发挥作用，催化 3-甲基巴豆酰辅酶 A 的羧化作用，形成 3-甲基戊烯二酰辅酶 A。该基因的突变与 3-甲基巴豆酰甘氨酸尿症有关，这是一种亮氨酸分解代谢的常染色体隐性遗传病症。[RefSeq 提供，2008 年 7 月]

This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This Enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008]

MCCC1 基因产物(3)

mRNA	Protein	Name
NM_001293273.2	NP_001280202.1	methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial isoform 2
NM_001363880.1	NP_001350809.1	methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial isoform 3
NM_020166.5	NP_064551.3	methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial isoform 1 precursor

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
contributes to methylcrotonoyl-CoA carboxylase activity	IDA IDA: 通过直接分析推断	17360195	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	17360195	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of methylcrotonoyl-CoA carboxylase complex	IDA IDA: 通过直接分析推断	17360195	GOA
part of methylcrotonoyl-CoA carboxylase complex	IPI IPI: 通过物理相互作用推断	17360195	GOA
located in mitochondrial matrix	IDA IDA: 通过直接分析推断	16023992	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

MCCC1 蛋白结构

Biotin_carb_N

CPSase_L_D2

Biotin_carb_C

Biotin_lipoyl

0
200
400
600
725 a.a.

蛋白主名

其他名称

methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial

3-methylcrotonyl-CoA carboxylase 1

MCCC1 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
种属内	MCCC1	Q96RQ3	MCCC2	Homo sapiens	Q9HCC0	Anti Tag CoIP	33961781
种属内	MCCC1	Q96RQ3	MCCC2	Homo sapiens	Q9HCC0	GMS	17360195
种属内	MCCC1	Q96RQ3	MCCC2	Homo sapiens	Q9HCC0	Anti Tag CoIP	17360195

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

3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

MCC1D	Mccd Type 1
Mcc1 Deficiency	Methylcrotonylglycinuria Type I
3-Methylcrotonylglycinuria I	3-Methylcrotonoyl-Coa Carboxylase 1 Deficiency
3-Methylcrotonylglycinuria Type I	Mcgi
3 Methylcrotonyl-Coa Carboxylase 1 Deficiency	3-Methylcrotonyl Coa Carboxylase 1 Deficiency

3-Methylcrotonyl-Coa Carboxylase Deficiency

3-Methylcrotonylglycinuria	Mcc Deficiency
Methylcrotonyl-Coa Carboxylase Deficiency	Bmcc Deficiency
3-Mcc Deficiency	3mcc
Mccd	3mcc Deficiency
Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency	3-Mcc
3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency	Deficiency Of Methylcrotonoyl-Coa Carboxylase
3-Methyl Crotonyl-Coa Carboxylase Deficiency	3-Methylcrotonyl Coa Carboxylase 1 Deficiency

Mucinous Intrahepatic Cholangiocarcinoma

Mucin-Producing Intrahepatic Cholangiocarcinoma

Multiple Carboxylase Deficiency

Mcd	Holocarboxylase Synthetase Deficiency

Tuberculum Sellae Meningioma

Meningioma Of The Tuberculum Sellae

Sella Turcica Neoplasm

Tumor Of Sella Turcica

Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of

Scad Deficiency	Acads Deficiency
Lipid-Storage Myopathy Secondary To Short-Chain Acyl-Coa Dehydrogenase Deficiency	Scadh Deficiency
Short-Chain Acyl-Coa Dehydrogenase Deficiency	Deficiency Of Butyryl-Coa Dehydrogenase
Short Chain Acyl-Coa Dehydrogenase Deficiency	ACADSD
Scadd	Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Acyl-Coa Dehydrogenase, Short Chain, Deficiency Of	Acyl-Coa Dehydrogenase Short-Chain Deficiency

Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of

Vlcad Deficiency	Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency	Lcad Deficiency
Very Long-Chain Acyl-Coa Dehydrogenase Deficiency	Long Chain Acyl-Coa Dehydrogenase Deficiency
ACADVLD	Acadl Deficiency
Vlcadd	Long-Chain Acyl-Coa Dehydrogenase Deficiency
Acadvl	Acyl-Coa Dehydrogenase Very Long Chain Deficiency
Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency	Vlcad-C
Vlcad-H	Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency Of
Acyl-Coa Dehydrogenase Very Long-Chain Deficiency	Acyl-Coa Dehydrogenase Long-Chain Deficiency
Deficiency, Very Long Chain Acyl-Coa Dehydrogenase	Long Chain/Very Long Chain Acyl Coa Dehydrogenase Deficiency

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

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-170692	Hypoglycemic agent 3		/	否
HY-RS08218	MCCC1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	MCCC1	VGNC	VGNC:68208
Rattus norvegicus	MCCC1	RGD	RGD:1310615
Bos taurus	MCCC1	VGNC	VGNC:31298
Canis familiaris	MCCC1	VGNC	VGNC:43070
Macaca mulatta	MCCC1	VGNC	VGNC:74676
Mus musculus	MCCC1	MGD	MGI:1919289

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

MCCC1 - methylcrotonyl-CoA carboxylase subunit 1 Gene

关于 MCCC1

功能概要

MCCC1 基因产物(3)

MCCC1 蛋白结构

MCCC1 蛋白互作信息

关联疾病

直系同源

热门区域

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MCCC1 - methylcrotonyl-CoA carboxylase subunit 1 Gene

关于 MCCC1

功能概要

MCCC1 基因产物(3)

MCCC1 蛋白结构

MCCC1 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z