2. Gene
  3. ACSM3 - acyl-CoA synthetase medium chain family member 3 Gene

ACSM3 - acyl-CoA synthetase medium chain 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 合成酶中链家族成员 3

种属: Homo sapiens

同用名: SA; SAH

基因 ID: 6296 | 基因类型: protein coding

关于 ACSM3

Cytogenetic location: 16p12.3 Genomic coordinates (GRCh38): 16:20,674,405-20,797,581 (from NCBI)

This gene has 15 transcripts (splice variants), 155 orthologues and 13 paralogues. Broad expression in liver (RPKM 29.1), kidney (RPKM 21.9) and 17 other tissues.

功能概要

启用丁酸辅酶 A 连接酶活性。预计参与酰基辅酶 A 代谢过程和脂肪酸生物合成过程。位于线粒体中。与 IgA 肾小球肾炎有关。溃疡性结肠炎的生物标志物。 [由基因组资源联盟提供，2022 年 4 月]

Enables butyrate-CoA Ligase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid biosynthetic process. Located in mitochondrion. Implicated in IgA glomerulonephritis. Biomarker of ulcerative colitis. [provided by Alliance of Genome Resources, Apr 2022]

ACSM3 基因产物(2)

mRNA Protein Name
NM_005622.4 NP_005613.2 acyl-coenzyme A synthetase ACSM3, mitochondrial isoform 1
NM_202000.3 NP_973729.1 acyl-coenzyme A synthetase ACSM3, mitochondrial isoform 2
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 medium-chain fatty acid-CoA ligase activity IDA
IDA: 通过直接分析推断
11772874 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32814053 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
11772874 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

ACSM3 蛋白结构

AMP-binding

AMP-binding: AMP-binding enzyme (72 - 481)

AMP-binding_C

AMP-binding_C: AMP-binding enzyme C-terminal domain (492 - 572)

  • 0
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  • 500
  • 586 a.a.
蛋白主名 其他名称

acyl-coenzyme A synthetase ACSM3, mitochondrial

SA (rat hypertension-associated) homolog

ACSM3 抗体

目录号 产品名 应用 反应物种
HY-P85414 ACSM3 Antibody (YA5106) WB Human, Mouse, Rat, Bovine, Pig

关联疾病

疾病名称 别名
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies

NEDSOA
Colitis
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2

Spinal Muscular Atrophy, Jerash Type

DSMA2

Neuropathy, Distal Hereditary Motor, Jerash Type

Hmnj

Autosomal Recessive Distal Spinal Muscular Atrophy 2

Neuronopathy, Distal Hereditary Motor, Jerash Type

Distal Spinal Muscular Atrophy 2

Dhmnj

Hereditary Motor Neuropathy, Jerash Type

Motor Neuropathy, Distal, Jerash Type

Distal Hereditary Motor Neuropathy, Jerash Type

Distal Hereditary Motor Neuropathy Jerash Type

Spinal Muscular Atrophy Jerash Type

Mndj

Autosomal Recessive Distal Spinal Muscular Atrophy Type 2

Distal Spinal Muscular Atrophy, Autosomal Recessive, 2

Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 2
Iga Glomerulonephritis

Iga Nephropathy

Glomerulonephritis, Iga

Berger'S Iga Or Igg Nephropathy

Focal Glomerulonephritis

Primary Iga Nephropathy

Segmental Glomerulonephritis

Berger Disease

Berger'S Disease

Igan

Nephritis, Iga Type

Nephropathy Iga

Glomerulonephritis Focal

Iga Nephropathy, Susceptibility To

Primary Immunoglobulin A Nephropathy
Iminoglycinuria

Iminoglycinuria, Digenic

IG
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-RS00207 ACSM3 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta ACSM3 VGNC VGNC:69376
Bos taurus ACSM3 VGNC VGNC:49960
Canis familiaris ACSM3 VGNC VGNC:54007
Mus musculus ACSM3 MGD MGI:99538
Rattus norvegicus ACSM3 RGD RGD:62086
Felis catus ACSM3 VGNC VGNC:59538
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