Human Gene ACOT7 (ENST00000377842.7) from GENCODE V44
  Description: Homo sapiens acyl-CoA thioesterase 7 (ACOT7), transcript variant hBACHd, mRNA. (from RefSeq NM_181866)
RefSeq Summary (NM_181866): This gene encodes a member of the acyl coenzyme family. The encoded protein hydrolyzes the CoA thioester of palmitoyl-CoA and other long-chain fatty acids. Decreased expression of this gene may be associated with mesial temporal lobe epilepsy. Alternatively spliced transcript variants encoding distinct isoforms with different subcellular locations have been characterized. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000377842.7
Gencode Gene: ENSG00000097021.21
Transcript (Including UTRs)
   Position: hg38 chr1:6,264,273-6,359,344 Size: 95,072 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg38 chr1:6,264,597-6,358,845 Size: 94,249 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:6,264,273-6,359,344)mRNA (may differ from genome)Protein (329 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: BACH_HUMAN
DESCRIPTION: RecName: Full=Cytosolic acyl coenzyme A thioester hydrolase; EC=3.1.2.2; AltName: Full=Acyl-CoA thioesterase 7; AltName: Full=Brain acyl-CoA hydrolase; Short=BACH; AltName: Full=CTE-IIa; Short=CTE-II; AltName: Full=Long chain acyl-CoA thioester hydrolase;
FUNCTION: Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. May play an important physiological function in brain. May play a regulatory role by modulating the cellular levels of fatty acyl- CoA ligands for certain transcription factors as well as the substrates for fatty acid metabolizing enzymes, contributing to lipid homeostasis. Has broad specificity, active towards fatty acyl-CoAs with chain-lengths of C8-C18. Has a maximal activity toward palmitoyl-CoA.
CATALYTIC ACTIVITY: Palmitoyl-CoA + H(2)O = CoA + palmitate.
SUBUNIT: Homohexamer (By similarity).
SUBCELLULAR LOCATION: Isoform 4: Cytoplasm.
SUBCELLULAR LOCATION: Isoform 6: Cytoplasm.
SUBCELLULAR LOCATION: Isoform 1: Mitochondrion.
SUBCELLULAR LOCATION: Isoform 5: Mitochondrion.
TISSUE SPECIFICITY: Isoform 4 is expressed exclusively in brain.
DOMAIN: Both hydrolase domains are required for efficient activity (By similarity).
SIMILARITY: Contains 2 acyl coenzyme A hydrolase domains.
SEQUENCE CAUTION: Sequence=AAB61211.1; Type=Frameshift; Positions=371; Sequence=AAH17365.2; Type=Erroneous initiation; Sequence=CAI19435.1; Type=Erroneous initiation; Sequence=CAI19774.1; 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: ACOT7
Diseases sorted by gene-association score: meckel's diverticulum (7), temporal lobe epilepsy (7), raynaud disease (7), trichomoniasis (6)

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 36.96 RPKM in Brain - Cortex
Total median expression: 477.12 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 -224.10499-0.449 Picture PostScript Text
3' UTR -95.80324-0.296 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
IPR006683 - Thioestr_supf

Pfam Domains:
PF03061 - Thioesterase superfamily

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2QQ2 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O00154
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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
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000062 fatty-acyl-CoA binding
GO:0005515 protein binding
GO:0016290 palmitoyl-CoA hydrolase activity
GO:0016787 hydrolase activity
GO:0036042 long-chain fatty acyl-CoA binding
GO:0042803 protein homodimerization activity
GO:0047617 acyl-CoA hydrolase activity
GO:0052689 carboxylic ester hydrolase activity

Biological Process:
GO:0006637 acyl-CoA metabolic process
GO:0015937 coenzyme A biosynthetic process
GO:0036114 medium-chain fatty-acyl-CoA catabolic process
GO:0036116 long-chain fatty-acyl-CoA catabolic process
GO:0051792 medium-chain fatty acid biosynthetic process
GO:1900535 palmitic acid biosynthetic process

Cellular Component:
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  D88894 - Homo sapiens hBACH mRNA for brain acyl-CoA hydrolase, complete cds.
U91316 - Human acyl-CoA thioester hydrolase mRNA, complete cds.
BC017365 - Homo sapiens acyl-CoA thioesterase 7, mRNA (cDNA clone MGC:1126 IMAGE:3507488), complete cds.
AB074419 - Homo sapiens BACH mRNA for brain acyl-CoA hydrolase, complete cds, isoform:hBACHd.
AK291583 - Homo sapiens cDNA FLJ75714 complete cds, highly similar to Homo sapiens brain acyl-CoA hydrolase (BACH), transcript varianthBACHd, mRNA.
AB074418 - Homo sapiens BACH mRNA for brain acyl-CoA hydrolase, complete cds, isoform:hBACHc.
AK292202 - Homo sapiens cDNA FLJ75787 complete cds, highly similar to Homo sapiens brain acyl-CoA hydrolase (BACH), transcript varianthBACHc, mRNA.
AB074417 - Homo sapiens BACH mRNA for brain acyl-CoA hydrolase, complete cds, isoform:hBACHb.
AB074415 - Homo sapiens BACH mRNA for brain acyl-CoA hydrolase, complete cds, isoform:hBACHa/X.
AB074416 - Homo sapiens BACH mRNA for brain acyl-CoA hydrolase, complete cds, isoform:hBACHa/Xi.
AK300831 - Homo sapiens cDNA FLJ60167 complete cds, highly similar to Cytosolic acyl coenzyme A thioester hydrolase(EC 3.1.2.2).
AK057168 - Homo sapiens cDNA FLJ32606 fis, clone STOMA1000186, highly similar to Homo sapiens acyl-CoA thioesterase 7 (ACOT7), transcript variant hBACHa, mRNA.
AK290097 - Homo sapiens cDNA FLJ76231 complete cds, highly similar to Homo sapiens brain acyl-CoA hydrolase (BACH), transcript varianthBACHb, mRNA.
AK289572 - Homo sapiens cDNA FLJ76997 complete cds, highly similar to Homo sapiens brain acyl-CoA hydrolase (BACH), transcript varianthBACHa, mRNA.
BT006888 - Homo sapiens brain acyl-CoA hydrolase mRNA, complete cds.
KJ902229 - Synthetic construct Homo sapiens clone ccsbBroadEn_11623 ACOT7 gene, encodes complete protein.
JD363981 - Sequence 345005 from Patent EP1572962.
JD134523 - Sequence 115547 from Patent EP1572962.
JD254980 - Sequence 236004 from Patent EP1572962.
JD513224 - Sequence 494248 from Patent EP1572962.
AK304465 - Homo sapiens cDNA FLJ52849 complete cds, highly similar to Homo sapiens acyl-CoA thioesterase 7 (ACOT7), transcript variant hBACHc, mRNA.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa01040 - Biosynthesis of unsaturated fatty acids

Reactome (by CSHL, EBI, and GO)

Protein O00154 (Reactome details) participates in the following event(s):

R-HSA-5690043 Cytosolic ACOTs hydrolyse MCFA-CoA, LCFA-CoA
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: A8K0K7, A8K232, A8K6B8, A8K837, BACH, BACH_HUMAN, ENST00000377842.1, ENST00000377842.2, ENST00000377842.3, ENST00000377842.4, ENST00000377842.5, ENST00000377842.6, NM_181866, O00154, O43703, Q53Y78, Q5JYL2, Q5JYL3, Q5JYL4, Q5JYL5, Q5JYL6, Q5TGR4, Q9UJM9, Q9Y539, Q9Y540, uc001amq.1, uc001amq.2, uc001amq.3, uc001amq.4
UCSC ID: ENST00000377842.7
RefSeq Accession: NM_181866
Protein: O00154 (aka BACH_HUMAN)
CCDS: CCDS67.1

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