2. Gene
  3. ACBD5 - acyl-CoA binding domain containing 5 Gene

ACBD5 - acyl-CoA binding domain containing 5 Gene

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

中文名称：含酰基辅酶 A 结合域 5

种属: Homo sapiens

同用名: RDLKD

基因 ID: 91452 | 基因类型: protein coding

关于 ACBD5

Cytogenetic location: 10p12.1 Genomic coordinates (GRCh38): 10:27,182,838-27,242,111 (from NCBI)

This gene has 29 transcripts (splice variants), 267 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 6.3), kidney (RPKM 5.9) and 25 other tissues.

功能概要

该基因编码酰基辅酶 A 结合蛋白家族的成员，已知其在细胞中长链酰基辅酶 A 的运输和分布中发挥作用。该基因可能在巨核细胞的分化和血小板的形成中发挥作用。酵母中的一种相关蛋白参与过氧化物酶体的自噬。该基因的突变与常染色体显性血小板减少症有关。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 7 月]

This gene encodes a member of the acyl-Coenzyme A binding protein family, known to function in the transport and distribution of long chain acyl-Coenzyme A in cells. This gene may play a role in the differentiation of megakaryocytes and formation of platelets. A related protein in yeast is involved in Autophagy of peroxisomes. A mutation in this gene has been associated with autosomal dominant thrombocytopenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

ACBD5 基因产物(28)

mRNA Protein Name
NM_001042473.4 NP_001035938.1 acyl-CoA-binding domain-containing protein 5 isoform 2
NM_001271512.3 NP_001258441.1 acyl-CoA-binding domain-containing protein 5 isoform 3
NM_001301251.2 NP_001288180.1 acyl-CoA-binding domain-containing protein 5 isoform 4
NM_001301252.2 NP_001288181.1 acyl-CoA-binding domain-containing protein 5 isoform 4
NM_001301253.2 NP_001288182.1 acyl-CoA-binding domain-containing protein 5 isoform 4
NM_001301254.2 NP_001288183.1 acyl-CoA-binding domain-containing protein 5 isoform 5
NM_001352568.1 NP_001339497.1 acyl-CoA-binding domain-containing protein 5 isoform 6
NM_001352569.1 NP_001339498.1 acyl-CoA-binding domain-containing protein 5 isoform 7
NM_001352570.1 NP_001339499.1 acyl-CoA-binding domain-containing protein 5 isoform 8
NM_001352571.1 NP_001339500.1 acyl-CoA-binding domain-containing protein 5 isoform 19
NM_001352572.1 NP_001339501.1 acyl-CoA-binding domain-containing protein 5 isoform 9
NM_001352573.1 NP_001339502.1 acyl-CoA-binding domain-containing protein 5 isoform 10
NM_001352574.2 NP_001339503.1 acyl-CoA-binding domain-containing protein 5 isoform 11
NM_001352575.2 NP_001339504.1 acyl-CoA-binding domain-containing protein 5 isoform 11
NM_001352576.2 NP_001339505.1 acyl-CoA-binding domain-containing protein 5 isoform 11
NM_001352577.2 NP_001339506.1 acyl-CoA-binding domain-containing protein 5 isoform 2
NM_001352578.2 NP_001339507.1 acyl-CoA-binding domain-containing protein 5 isoform 2
NM_001352579.2 NP_001339508.1 acyl-CoA-binding domain-containing protein 5 isoform 2
NM_001352580.2 NP_001339509.1 acyl-CoA-binding domain-containing protein 5 isoform 12
NM_001352581.1 NP_001339510.1 acyl-CoA-binding domain-containing protein 5 isoform 13
NM_001352582.2 NP_001339511.1 acyl-CoA-binding domain-containing protein 5 isoform 14
NM_001352583.1 NP_001339512.1 acyl-CoA-binding domain-containing protein 5 isoform 4
NM_001352584.1 NP_001339513.1 acyl-CoA-binding domain-containing protein 5 isoform 4
NM_001352585.1 NP_001339514.1 acyl-CoA-binding domain-containing protein 5 isoform 15
NM_001352586.1 NP_001339515.1 acyl-CoA-binding domain-containing protein 5 isoform 16
NM_001352587.1 NP_001339516.1 acyl-CoA-binding domain-containing protein 5 isoform 17
NM_001352588.1 NP_001339517.1 acyl-CoA-binding domain-containing protein 5 isoform 18
NM_145698.5 NP_663736.2 acyl-CoA-binding domain-containing protein 5 isoform 1
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 protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in pexophagy IMP
IMP: 通过突变表型推断
24535825 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in peroxisome IDA
IDA: 通过直接分析推断
24535825 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

ACBD5 蛋白结构

ACBP

ACBP: Acyl CoA binding protein (42 - 128)

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  • 500
  • 534 a.a.
蛋白主名 其他名称

acyl-CoA-binding domain-containing protein 5

acyl-Coenzyme A binding domain containing 5

关联疾病

疾病名称 别名
Retinal Dystrophy With Leukodystrophy

RDLKD

Acbd5 Deficiency

Dystrophy, Retinal, With Leukodystrophy
Leukodystrophy

Leukodystrophies
Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos
Spastic Paraparesis
Peroxisomal Disease

Peroxisomal Disorder

Peroxisomal Disorders

Peroxisomal Defects
Glass Syndrome

Chromosome 2q32-Q33 Deletion Syndrome

Satb2-Associated Syndrome

2q33.1 Microdeletion Syndrome

Sas

2q32-Q33 Microdeletion Syndrome

2q32q33 Microdeletion Syndrome

Monosomy 2q32

Monosomy 2q32-Q33

Monosomy 2q32q33

2q32 Deletion Syndrome

Del(2)(Q32)

Del(2)(Q32q33)

GLASS

2q32q33 Microdeletion Syndromes

Satb2 Syndrome

Satb2-Associated Syndrome Due To A Chromosomal Rearrangement

Del(2)(Q33.1)

Monosomy 2q33.1

Satb2-Associated Syndrome Due To A Pathogenic Variant

Satb2-Associated Syndrome Due To A Point Mutation

Satb2 Associated Disorder
Peroxisomal Biogenesis Disorder

Zellweger Spectrum Disorders

Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

Disorders Of Peroxisome Biogenesis

Zellweger Spectrum

Zellweger Syndrome Spectrum

Peroxisomal Biogenesis Disorders

Pbd, Zss

Pbd-Zsd

Pbd-Zss

Pbd-Zellweger Spectrum Disorder

Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum

Peroxisome Biogenesis Disorder

Peroxisome Biogenesis Disorder Spectrum

Peroxisome Biogenesis Disorders

Zellweger Spectrum Disorder

Hyperpipecolic Acidaemia
Peroxisome Biogenesis Disorder 1b

Peroxisome Biogenesis Disorder

Infantile Refsum Disease

Infantile Phytanic Acid Storage Disease

PBD1B

Refsum Disease, Infantile

Adrenoleukodystrophy, Autosomal Neonatal

Ird

Mild Pbd-Zsd

Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Pbd-Zsd

Peroxisome Biogenesis Disorder Spectrum

Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Autosomal Neonatal Adrenoleukodystrophy

Refsum Disease Infantile

Peroxisome Biogenesis Disorders

Peroxisome Biogenesis Disorder, Type 1b
Zellweger Syndrome

Cerebrohepatorenal Syndrome

Zellweger Leukodystrophy

Zs

Congenital Iron Overload

Chr

Zws

Severe Pbd-Zsd

Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
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-RS00143 ACBD5 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus ACBD5 VGNC VGNC:59502
Canis familiaris ACBD5 VGNC VGNC:37501
Mus musculus ACBD5 MGD MGI:1921409
Rattus norvegicus ACBD5 RGD RGD:1309411
Macaca mulatta ACBD5 VGNC VGNC:69509
Bos taurus ACBD5 VGNC VGNC:25532
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