1. Gene
  2. ACSM5 - acyl-CoA synthetase medium chain family member 5 Gene

ACSM5 - acyl-CoA synthetase medium chain family member 5 Gene

中文名称:酰基辅酶 A 合成酶中链家族成员 5

种属: Homo sapiens

基因 ID: 54988 | 基因类型: protein coding

关于 ACSM5

Cytogenetic location: 16p12.3 Genomic coordinates (GRCh38): 16:20,409,534-20,441,336 (from NCBI)

This gene has 7 transcripts (splice variants), 221 orthologues and 13 paralogues. Biased expression in liver (RPKM 53.9), fat (RPKM 14.6) and 1 other tissue.

功能概要

预测具有脂肪酸连接酶活性和脂肪酰基辅酶 A 合酶活性。预计参与酰基辅酶 A 代谢过程和脂肪酸生物合成过程。预计在线粒体基质中有活性。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable fatty acid Ligase activity and fatty-acyl-CoA synthase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid biosynthetic process. Predicted to be active in mitochondrial matrix. [provided by Alliance of Genome Resources, Apr 2022]

ACSM5 基因产物(4)

mRNA Protein Name
NM_001324371.2 NP_001311300.1 acyl-coenzyme A synthetase ACSM5, mitochondrial isoform 1
NM_001324372.2 NP_001311301.1 acyl-coenzyme A synthetase ACSM5, mitochondrial isoform 2
NM_001324373.2 NP_001311302.1 acyl-coenzyme A synthetase ACSM5, mitochondrial isoform 3
NM_017888.3 NP_060358.2 acyl-coenzyme A synthetase ACSM5, mitochondrial isoform 1

ACSM5 蛋白结构

AMP-binding

AMP-binding: AMP-binding enzyme (68 - 477)

AMP-binding_C

AMP-binding_C: AMP-binding enzyme C-terminal domain (486 - 566)

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  • 579 a.a.
蛋白主名 其他名称

acyl-coenzyme A synthetase ACSM5, mitochondrial

关联疾病

疾病名称 别名
Spondylometaphyseal Dysplasia, Corner Fracture Type

SMDCF

Spondylometaphyseal Dysplasia, Sutcliffe Type

Spondylometaphyseal Dysplasia Corner Fracture Type

Spondylometaphyseal Dysplasia, 'Corner Fracture' Type

Spondylometaphyseal Dysplasia Sutcliffe Type

Sutcliffe Type Of Spondylometaphyseal Dysplasia

Spondylometaphyseal Dysplasia - Sutcliffe Type

Smd, Corner Fractures Type

Smd, Sutcliffe Type

Sutcliffe Smd

Dysplasia, Spondylometaphyseal, Corner Fracture Type

Arthrogryposis Multiplex Congenita-3
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 ACSM5 MGD MGI:2444086
Bos taurus ACSM5 VGNC VGNC:25569
Felis catus ACSM5 VGNC VGNC:59539
Canis familiaris ACSM5 VGNC VGNC:37536
Macaca mulatta ACSM5 VGNC VGNC:69535
Rattus norvegicus ACSM5 RGD RGD:1309578