2. Gene
  3. ACSF3 - acyl-CoA synthetase family member 3 Gene

ACSF3 - acyl-CoA synthetase family member 3 Gene

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

中文名称：酰基辅酶 A 合成酶家族成员 3

种属: Homo sapiens

基因 ID: 197322 | 基因类型: protein coding

关于 ACSF3

Cytogenetic location: 16q24.3 Genomic coordinates (GRCh38): 16:89,093,852-89,156,233 (from NCBI)

This gene has 19 transcripts (splice variants), 207 orthologues, 13 paralogues and is associated with 2 phenotypes. Ubiquitous expression in duodenum (RPKM 1.5), lymph node (RPKM 1.5) and 25 other tissues.

功能概要

该基因编码酰基辅酶 A 合成酶家族的一个成员，该酶家族通过催化脂肪酸和辅酶 A 之间硫酯键的形成来激活脂肪酸。编码的蛋白质定位于线粒体，对丙二酸和丙二酸甲酯具有高度特异性，并且具有丙二酰辅酶 A 合成酶活性。该基因的突变是丙二酸尿症和甲基丙二酸尿症合并症的原因。已观察到该基因的可变剪接转录物变体。[RefSeq 提供，2013 年 9 月]

This gene encodes a member of the acyl-CoA synthetase family of Enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity. Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Sep 2013]

ACSF3 基因产物(4)

mRNA Protein Name
NM_001127214.4 NP_001120686.1 malonate--CoA ligase ACSF3, mitochondrial isoform 1 precursor
NM_001243279.3 NP_001230208.1 malonate--CoA ligase ACSF3, mitochondrial isoform 1 precursor
NM_001284316.2 NP_001271245.1 malonate--CoA ligase ACSF3, mitochondrial isoform 2
NM_174917.5 NP_777577.2 malonate--CoA ligase ACSF3, mitochondrial isoform 1 precursor
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 acid-thiol ligase activity IDA
IDA: 通过直接分析推断
17762044 GOA
enables malonyl-CoA synthetase activity IDA
IDA: 通过直接分析推断
21642549 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 GOA
enables very long-chain fatty acid-CoA ligase activity IDA
IDA: 通过直接分析推断
17762044 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in fatty acid biosynthetic process IDA
IDA: 通过直接分析推断
21846720 GOA
involved in fatty acid metabolic process IDA
IDA: 通过直接分析推断
17762044 GOA
involved in malonate catabolic process IDA
IDA: 通过直接分析推断
21642549 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
21846720 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

ACSF3 蛋白结构

AMP-binding

AMP-binding: AMP-binding enzyme (50 - 479)

AMP-binding_C

AMP-binding_C: AMP-binding enzyme C-terminal domain (488 - 563)

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

malonate--CoA ligase ACSF3, mitochondrial

acyl-CoA synthetase family member 3, mitochondrial

ACSF3 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 ACSF3 Q4G176 KRT40 Homo sapiens Q6A162
Validated Y2H
32296183
Intra ACSF3 Q4G176 KRT40 Homo sapiens Q6A162
Y2H Prey Pooling
32296183
Intra ACSF3 Q4G176 KRT40 Homo sapiens Q6A162
Y2H Array
32296183
Intra ACSF3 Q4G176 PPP1R13B Homo sapiens Q96KQ4
Y2H Prey Pooling
32296183
Intra ACSF3 Q4G176 PPP1R13B Homo sapiens Q96KQ4
Validated Y2H
32296183
Intra ACSF3 Q4G176 PPP1R13B Homo sapiens Q96KQ4
Y2H Array
32296183
Intra ACSF3 Q4G176 RAB28 Homo sapiens P51157
Y2H Array
32296183
Intra ACSF3 Q4G176 RAB28 Homo sapiens P51157
Y2H Prey Pooling
32296183
Intra ACSF3 Q4G176 MATN4 Homo sapiens O95460-2
Y2H Prey Pooling
32296183
Intra ACSF3 Q4G176 MATN4 Homo sapiens O95460-2
Y2H Array
32296183
Intra ACSF3 Q4G176 TRIM27 Homo sapiens P14373
Y2H Prey Pooling
32296183
Intra ACSF3 Q4G176 TRIM27 Homo sapiens P14373
Y2H Array
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
Combined Malonic And Methylmalonic Aciduria

CMAMMA

Combined Malonic And Methylmalonic Acidemia

Aciduria, Combined Malonic And Methylmalonic
Isolated Methylmalonic Acidemia

Isolated Methylmalonic Aciduria

Methylmalonic Acidemia
Methylmalonic Acidemia

Methylmalonic Aciduria

Mma

Acidemia, Methylmalonic

Isolated Methylmalonic Acidemia
Methylmalonic Aciduria, Cbla Type

Methylmalonic Acidemia Cbla Type

Methylmalonic Aciduria Cbla Type

Methylmalonic Acidemia, Cbla Type

Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cbla Type

Methylmalonic Aciduria, Vitamin B12-Responsive, Cbla Type

Methylmalonic Aciduria, Vitamin B12-Responsive Due To A Defect In Synthesis Of Adenosylcobalamin Cb1a Type

Vitamin B12-Responsive Methylmalonic Acidemia Type Cbla

Vitamin B12-Responsive Methylmalonic Aciduria Type Cbla

Methylmalonic Aciduria Type Cbla

MMAA

Methylmalonic Aciduria Type A

Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl A

Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl A

Aciduria, Methylmalonic, Cbla Type

Methylmalonic Aciduria Cbla Type
Methylmalonic Aciduria, Cblb Type

Methylmalonic Aciduria Cblb Type

Methylmalonic Acidemia Cblb Type

Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Complementation Type

Methylmalonic Acidemia, Cblb Type

Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Type

Methylmalonic Aciduria, Vitamin B12-Responsive, Cblb Type

Vitamin B12-Responsive Methylmalonic Acidemia Type Cblb

Vitamin B12-Responsive Methylmalonic Aciduria, Type Cblb

Methylmalonic Aciduria Type Cblb

MMAB

Methylmalonic Aciduria Type B

Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl B

Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl B

Aciduria, Methylmalonic, Cblb Type

Methylmalonic Acidemia

Methylmalonic Aciduria
Organic Acidemia

Organic Aciduria

Disorder Of Organic Acid Metabolism

Organic Acid Metabolism Disorder

Organic Acidemias

Inherited Organic Acidemia

Organic Acidurias

Aciduria Organic
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
Kbg Syndrome

KBGS

Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies

Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies

Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies

Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome

Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome
Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
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-RS00199 ACSF3 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 ACSF3 VGNC VGNC:82095
Mus musculus ACSF3 MGD MGI:2182591
Felis catus ACSF3 VGNC VGNC:59533
Rattus norvegicus ACSF3 RGD RGD:1586037
Bos taurus ACSF3 VGNC VGNC:25563
Canis familiaris ACSF3 VGNC VGNC:37531
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