ACBD5 - acyl-CoA binding domain containing 5 Gene

Also Known as RDLKD

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 91452

About 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.

Summary

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 Products (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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence References Source
involved in pexophagy IMP
IMP: Inferred from mutant phenotype
24535825 GOA
Cellular Component GO Annotation Evidence References Source
located in peroxisome IDA
IDA: Inferred from direct assay
24535825 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACBD5 Protein Structure

ACBP

ACBP: Acyl CoA binding protein (42 - 128)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 534 a.a.
Protein Preferred Names Protein Names

acyl-CoA-binding domain-containing protein 5

  • acyl-Coenzyme A binding domain containing 5

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS00143 ACBD5 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others ACBD5 NCBI