ACSF3 - acyl-CoA synthetase family member 3 Gene

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 197322

About 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.

Summary

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 Products (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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence 参考文献 由来
enables acid-thiol ligase activity IDA
IDA: Inferred from direct assay
17762044 GOA
enables malonyl-CoA synthetase activity IDA
IDA: Inferred from direct assay
21642549 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
enables very long-chain fatty acid-CoA ligase activity IDA
IDA: Inferred from direct assay
17762044 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in fatty acid biosynthetic process IDA
IDA: Inferred from direct assay
21846720 GOA
involved in fatty acid metabolic process IDA
IDA: Inferred from direct assay
17762044 GOA
involved in malonate catabolic process IDA
IDA: Inferred from direct assay
21642549 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in mitochondrion IDA
IDA: Inferred from direct assay
21846720 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

ACSF3 Protein Structure

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.
Protein Preferred Names Protein Names

malonate--CoA ligase ACSF3, mitochondrial

  • acyl-CoA synthetase family member 3, mitochondrial

ACSF3 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 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
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases Alias
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
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 (2)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS00199 ACSF3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28898 Acsf3 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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
Others ACSF3 NCBI