Gene/Proteome Database (LMPD)

LMPD ID
LMP006785
Gene ID
197322
Species
Homo sapiens (Human)
Gene Name
acyl-CoA synthetase family member 3
Gene Symbol
ACSF3
Synonyms
-
Alternate Names
acyl-CoA synthetase family member 3, mitochondrial; malonyl-CoA synthetase
Chromosome
16
Map Location
16q24.3
EC Number
6.2.1.-
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]
Orthologs
View orthologs and multiple alignments for ACSF3

Proteins

acyl-CoA synthetase family member 3, mitochondrial isoform 1 precursor
Refseq ID NP_777577
Protein GI 187761343
UniProt ID Q4G176
mRNA ID NM_174917
Length 576
RefSeq Status REVIEWED
MLPHVVLTFRRLGCALASCRLAPARHRGSGLLHTAPVARSDRSAPVFTRALAFGDRIALVDQHGRHTYRELYSRSLRLSQEICRLCGCVGGDLREERVSFLCANDASYVVAQWASWMSGGVAVPLYRKHPAAQLEYVICDSQSSVVLASQEYLELLSPVVRKLGVPLLPLTPAIYTGAVEEPAEVPVPEQGWRNKGAMIIYTSGTTGRPKGVLSTHQNIRAVVTGLVHKWAWTKDDVILHVLPLHHVHGVVNALLCPLWVGATCVMMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKLMEYYDRHFTQPHAQDFLRAVCEEKIRLMVSGSAALPLPVLEKWKNITGHTLLERYGMTEIGMALSGPLTTAVRLPGSVGTPLPGVQVRIVSENPQREACSYTIHAEGDERGTKVTPGFEEKEGELLVRGPSVFREYWNKPEETKSAFTLDGWFKTGDTVVFKDGQYWIRGRTSVDIIKTGGYKVSALEVEWHLLAHPSITDVAVIGVPDMTWGQRVTAVVTLREGHSLSHRELKEWARNVLAPYAVPSELVLVEEIPRNQMGKIDKKALIRHFHPS
transit_peptide: 1..83 inference: non-experimental evidence, no additional details recorded note: Mitochondrion (Potential); propagated from UniProtKB/Swiss-Prot (Q4G176.3) calculated_mol_wt: 9281 peptide sequence: MLPHVVLTFRRLGCALASCRLAPARHRGSGLLHTAPVARSDRSAPVFTRALAFGDRIALVDQHGRHTYRELYSRSLRLSQEIC mat_peptide: 84..576 product: Acyl-CoA synthetase family member 3, mitochondrial experiment: experimental evidence, no additional details recorded note: propagated from UniProtKB/Swiss-Prot (Q4G176.3) calculated_mol_wt: 54868 peptide sequence: RLCGCVGGDLREERVSFLCANDASYVVAQWASWMSGGVAVPLYRKHPAAQLEYVICDSQSSVVLASQEYLELLSPVVRKLGVPLLPLTPAIYTGAVEEPAEVPVPEQGWRNKGAMIIYTSGTTGRPKGVLSTHQNIRAVVTGLVHKWAWTKDDVILHVLPLHHVHGVVNALLCPLWVGATCVMMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKLMEYYDRHFTQPHAQDFLRAVCEEKIRLMVSGSAALPLPVLEKWKNITGHTLLERYGMTEIGMALSGPLTTAVRLPGSVGTPLPGVQVRIVSENPQREACSYTIHAEGDERGTKVTPGFEEKEGELLVRGPSVFREYWNKPEETKSAFTLDGWFKTGDTVVFKDGQYWIRGRTSVDIIKTGGYKVSALEVEWHLLAHPSITDVAVIGVPDMTWGQRVTAVVTLREGHSLSHRELKEWARNVLAPYAVPSELVLVEEIPRNQMGKIDKKALIRHFHPS transit_peptide: 1..83 inference: non-experimental evidence, no additional details recorded note: Mitochondrion (Potential); propagated from UniProtKB/Swiss-Prot (Q4G176.3) calculated_mol_wt: 9281 peptide sequence: MLPHVVLTFRRLGCALASCRLAPARHRGSGLLHTAPVARSDRSAPVFTRALAFGDRIALVDQHGRHTYRELYSRSLRLSQEIC mat_peptide: 84..576 product: Acyl-CoA synthetase family member 3, mitochondrial experiment: experimental evidence, no additional details recorded note: propagated from UniProtKB/Swiss-Prot (Q4G176.3) calculated_mol_wt: 54868 peptide sequence: RLCGCVGGDLREERVSFLCANDASYVVAQWASWMSGGVAVPLYRKHPAAQLEYVICDSQSSVVLASQEYLELLSPVVRKLGVPLLPLTPAIYTGAVEEPAEVPVPEQGWRNKGAMIIYTSGTTGRPKGVLSTHQNIRAVVTGLVHKWAWTKDDVILHVLPLHHVHGVVNALLCPLWVGATCVMMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKLMEYYDRHFTQPHAQDFLRAVCEEKIRLMVSGSAALPLPVLEKWKNITGHTLLERYGMTEIGMALSGPLTTAVRLPGSVGTPLPGVQVRIVSENPQREACSYTIHAEGDERGTKVTPGFEEKEGELLVRGPSVFREYWNKPEETKSAFTLDGWFKTGDTVVFKDGQYWIRGRTSVDIIKTGGYKVSALEVEWHLLAHPSITDVAVIGVPDMTWGQRVTAVVTLREGHSLSHRELKEWARNVLAPYAVPSELVLVEEIPRNQMGKIDKKALIRHFHPS transit_peptide: 1..83 inference: non-experimental evidence, no additional details recorded note: Mitochondrion (Potential); propagated from UniProtKB/Swiss-Prot (Q4G176.3) calculated_mol_wt: 9281 peptide sequence: MLPHVVLTFRRLGCALASCRLAPARHRGSGLLHTAPVARSDRSAPVFTRALAFGDRIALVDQHGRHTYRELYSRSLRLSQEIC mat_peptide: 84..576 product: Acyl-CoA synthetase family member 3, mitochondrial experiment: experimental evidence, no additional details recorded note: propagated from UniProtKB/Swiss-Prot (Q4G176.3) calculated_mol_wt: 54868 peptide sequence: RLCGCVGGDLREERVSFLCANDASYVVAQWASWMSGGVAVPLYRKHPAAQLEYVICDSQSSVVLASQEYLELLSPVVRKLGVPLLPLTPAIYTGAVEEPAEVPVPEQGWRNKGAMIIYTSGTTGRPKGVLSTHQNIRAVVTGLVHKWAWTKDDVILHVLPLHHVHGVVNALLCPLWVGATCVMMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKLMEYYDRHFTQPHAQDFLRAVCEEKIRLMVSGSAALPLPVLEKWKNITGHTLLERYGMTEIGMALSGPLTTAVRLPGSVGTPLPGVQVRIVSENPQREACSYTIHAEGDERGTKVTPGFEEKEGELLVRGPSVFREYWNKPEETKSAFTLDGWFKTGDTVVFKDGQYWIRGRTSVDIIKTGGYKVSALEVEWHLLAHPSITDVAVIGVPDMTWGQRVTAVVTLREGHSLSHRELKEWARNVLAPYAVPSELVLVEEIPRNQMGKIDKKALIRHFHPS
acyl-CoA synthetase family member 3, mitochondrial isoform 1 precursor
Refseq ID NP_001230208
Protein GI 343168767
UniProt ID Q4G176
mRNA ID NM_001243279
Length 576
RefSeq Status REVIEWED
Protein sequence is identical to GI:187761343 (mRNA isoform)
acyl-CoA synthetase family member 3, mitochondrial isoform 1 precursor
Refseq ID NP_001120686
Protein GI 187761345
UniProt ID Q4G176
mRNA ID NM_001127214
Length 576
RefSeq Status REVIEWED
Protein sequence is identical to GI:187761343 (mRNA isoform)
acyl-CoA synthetase family member 3, mitochondrial isoform 2
Refseq ID NP_001271245
Protein GI 343168767
UniProt ID F5H5A1
mRNA ID NM_001284316
Length 576
RefSeq Status REVIEWED
Protein sequence is identical to GI:187761343 (mRNA isoform)

Gene Information

Entrez Gene ID
197322
Gene Name
acyl-CoA synthetase family member 3
Gene Symbol
ACSF3
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005739 IDA:UniProtKB C mitochondrion
GO:0016878 IDA:UniProtKB F acid-thiol ligase activity
GO:0005524 IEA:UniProtKB-KW F ATP binding
GO:0090409 IDA:UniProtKB F malonyl-CoA synthetase activity
GO:0006633 IDA:UniProtKB P fatty acid biosynthetic process
GO:0006631 IDA:UniProtKB P fatty acid metabolic process
GO:0090410 IDA:UniProtKB P malonate catabolic process

Domain Information

InterPro Annotations

Accession Description
IPR020845 AMP-binding, conserved site
IPR025110 AMP-binding enzyme C-terminal domain
IPR000873 AMP-dependent synthetase/ligase

UniProt Annotations

Entry Information

Gene Name
acyl-CoA synthetase family member 3
Protein Entry
ACSF3_HUMAN
UniProt ID
Q4G176
Species
Human

Comments

Comment Type Description
Disease Combined malonic and methylmalonic aciduria (CMAMMA) [MIM
Function Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester. May have some preference toward very-long-chain substrates.
Sequence Caution Sequence=AAH72391.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence= ;
Similarity Belongs to the ATP-dependent AMP-binding enzyme family.
Subcellular Location Mitochondrion .

Identical and Related Proteins

Unique RefSeq proteins for LMP006785 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
187761343 RefSeq NP_777577 576 acyl-CoA synthetase family member 3, mitochondrial isoform 1 precursor

Identical Sequences to LMP006785 proteins

Reference Database Accession Length Protein Name
GI:187761343 DBBJ BAF83652.1 576 unnamed protein product [Homo sapiens]
GI:187761343 EMBL CBX47443.1 576 unnamed protein product [Homo sapiens]
GI:187761343 GenBank AHL57757.1 576 Sequence 46 from patent US 8647822
GI:187761343 RefSeq NP_001120686.1 576 acyl-CoA synthetase family member 3, mitochondrial isoform 1 precursor [Homo sapiens]
GI:187761343 RefSeq NP_001230208.1 576 acyl-CoA synthetase family member 3, mitochondrial isoform 1 precursor [Homo sapiens]
GI:187761343 SwissProt Q4G176.3 576 RecName: Full=Acyl-CoA synthetase family member 3, mitochondrial; Flags: Precursor [Homo sapiens]

Related Sequences to LMP006785 proteins

Reference Database Accession Length Protein Name
GI:187761343 DBBJ BAC11654.1 576 unnamed protein product [Homo sapiens]
GI:187761343 EMBL CAC39788.1 576 unnamed protein product [Homo sapiens]
GI:187761343 EMBL CAD23290.1 576 unnamed protein product [Homo sapiens]
GI:187761343 EMBL CAI72159.1 576 unnamed protein product [Homo sapiens]
GI:187761343 GenBank ABL24048.1 576 Sequence 216 from patent US 7129338
GI:187761343 GenBank AHD71546.1 576 Sequence 6240 from patent US 8586006