Human Gene ACSM3 (ENST00000289416.10_6) from GENCODE V47lift37
  Description: acyl-CoA synthetase medium chain family member 3, transcript variant 1 (from RefSeq NM_005622.4)
Gencode Transcript: ENST00000289416.10_6
Gencode Gene: ENSG00000005187.12_13
Transcript (Including UTRs)
   Position: hg19 chr16:20,775,336-20,808,903 Size: 33,568 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr16:20,781,357-20,808,294 Size: 26,938 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:20,775,336-20,808,903)mRNA (may differ from genome)Protein (586 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ACSM3_HUMAN
DESCRIPTION: RecName: Full=Acyl-coenzyme A synthetase ACSM3, mitochondrial; EC=6.2.1.2; AltName: Full=Acyl-CoA synthetase medium-chain family member 3; AltName: Full=Butyrate--CoA ligase 3; AltName: Full=Butyryl-coenzyme A synthetase 3; AltName: Full=Middle-chain acyl-CoA synthetase 3; AltName: Full=Protein SA homolog; Flags: Precursor;
FUNCTION: Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4- unsaturated acids (in vitro) (By similarity).
CATALYTIC ACTIVITY: ATP + a carboxylate + CoA = AMP + diphosphate + an acyl-CoA.
COFACTOR: Magnesium (By similarity).
SUBCELLULAR LOCATION: Mitochondrion matrix (By similarity).
SIMILARITY: Belongs to the ATP-dependent AMP-binding enzyme family.
CAUTION: It is uncertain whether Met-1 or Met-9 is the initiator.
SEQUENCE CAUTION: Sequence=AAC31667.1; Type=Erroneous initiation; Sequence=BAA03853.1; Type=Erroneous initiation; Sequence=CAA56369.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ACSM3
Diseases sorted by gene-association score: hypertension, essential* (11)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 28.06 RPKM in Ovary
Total median expression: 102.61 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -33.10163-0.203 Picture PostScript Text
3' UTR -104.50609-0.172 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR020845 - AMP-binding_CS
IPR000873 - AMP-dep_Synth/Lig
IPR025110 - DUF4009

Pfam Domains:
PF00501 - AMP-binding enzyme
PF13193 - AMP-binding enzyme C-terminal domain

SCOP Domains:
56801 - Acetyl-CoA synthetase-like

ModBase Predicted Comparative 3D Structure on Q53FZ2
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003674 molecular_function
GO:0003824 catalytic activity
GO:0003996 acyl-CoA ligase activity
GO:0004321 fatty-acyl-CoA synthase activity
GO:0005524 ATP binding
GO:0015645 fatty acid ligase activity
GO:0016874 ligase activity
GO:0046872 metal ion binding
GO:0047760 butyrate-CoA ligase activity

Biological Process:
GO:0006629 lipid metabolic process
GO:0006631 fatty acid metabolic process
GO:0006633 fatty acid biosynthetic process
GO:0006637 acyl-CoA metabolic process
GO:0008152 metabolic process
GO:0008217 regulation of blood pressure
GO:0042632 cholesterol homeostasis

Cellular Component:
GO:0005575 cellular_component
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix


-  Descriptions from all associated GenBank mRNAs
  AK290322 - Homo sapiens cDNA FLJ77928 complete cds, highly similar to Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA.
AK223139 - Homo sapiens mRNA for SA hypertension-associated homolog isoform 1 variant, clone: KDN03548.
X80062 - H.sapiens SA mRNA.
JD362649 - Sequence 343673 from Patent EP1572962.
BC002790 - Homo sapiens acyl-CoA synthetase medium-chain family member 3, mRNA (cDNA clone MGC:3570 IMAGE:3617826), complete cds.
D16350 - Homo sapiens SA mRNA for SA gene product, complete cds.
DQ892979 - Synthetic construct clone IMAGE:100005609; FLH191361.01X; RZPDo839C0577D acyl-CoA synthetase medium-chain family member 3 (ACSM3) gene, encodes complete protein.
DQ896227 - Synthetic construct Homo sapiens clone IMAGE:100010687; FLH191357.01L; RZPDo839C0567D acyl-CoA synthetase medium-chain family member 3 (ACSM3) gene, encodes complete protein.
EU176405 - Synthetic construct Homo sapiens clone IMAGE:100006553; FLH263535.01X; RZPDo839B04252D acyl-CoA synthetase medium-chain family member 3 (ACSM3) gene, encodes complete protein.
KJ901722 - Synthetic construct Homo sapiens clone ccsbBroadEn_11116 ACSM3 gene, encodes complete protein.
KR709937 - Synthetic construct Homo sapiens clone CCSBHm_00007935 ACSM3 (ACSM3) mRNA, encodes complete protein.
AK296122 - Homo sapiens cDNA FLJ56648 complete cds, highly similar to Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA.
CU679732 - Synthetic construct Homo sapiens gateway clone IMAGE:100018959 3' read MGC16943 mRNA.
CQ964455 - Sequence 1 from Patent WO2004101820.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-6000 - γ-linolenate biosynthesis
PWY-7049 - icosapentaenoate biosynthesis II (6-desaturase, mammals)
PWY-7592 - arachidonate biosynthesis III (6-desaturase, mammals)
PWY-7724 - icosapentaenoate biosynthesis III (8-desaturase, mammals)

Reactome (by CSHL, EBI, and GO)

Protein Q53FZ2 (Reactome details) participates in the following event(s):

R-HSA-8875013 ACSM3,ACSM6 ligate CoA to BUT
R-HSA-77352 Beta oxidation of butanoyl-CoA to acetyl-CoA
R-HSA-77286 mitochondrial fatty acid beta-oxidation of saturated fatty acids
R-HSA-77289 Mitochondrial Fatty Acid Beta-Oxidation
R-HSA-8978868 Fatty acid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ACSM3_HUMAN, ENST00000289416.1, ENST00000289416.2, ENST00000289416.3, ENST00000289416.4, ENST00000289416.5, ENST00000289416.6, ENST00000289416.7, ENST00000289416.8, ENST00000289416.9, NM_005622, O60363, Q13732, Q15425, Q53FZ2, Q7KYM6, Q9BUA2, SAH, uc317krz.1, uc317krz.2
UCSC ID: ENST00000289416.10_6
RefSeq Accession: NM_005622.4
Protein: Q53FZ2 (aka ACSM3_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.