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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ACADVL Gene

protein-coding GIFtS: 67
GCID: GC17P007120

acyl-CoA dehydrogenase, very long chain

(Previous names: acyl-Coenzyme A dehydrogenase, very long chain )

Explore 25 diseases affiliated with
ACADVL via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Acyl-CoA Dehydrogenase, Very Long Chain¹ ²		Acyl-Coenzyme A Dehydrogenase, Very Long Chain¹ ²
VLCAD¹ ² ³ ⁵		Very Long-Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial²
ACAD6¹ ²		EC 1.3.8.9³
LCACD¹ ²		EC 1.3.99⁸

External Ids:	HGNC: 92¹	Entrez Gene: 37²	Ensembl: ENSG00000072778⁷	OMIM: 609575⁵	UniProtKB: P49748³

Export aliases for ACADVL gene to outside databases

Previous GC identifers: GC17P007521 GC17P007852 GC17P007065 GC17P007323 GC17P007294 GC17P007063 GC17P007015

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ACADVL:

The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of

the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and

very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is

associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different

isoforms. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ACADV_HUMAN, P49748

Function: Active toward esters of long-chain and very long chain fatty acids such as palmitoyl-CoA, mysritoyl-CoA and

stearoyl-CoA. Can accommodate substrate acyl chain lengths as long as 24 carbons, but shows little activity for

substrates of less than 12 carbons

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010718.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ACADVL gene promoter:
AP-2alpha isoform 3 AP-2alpha isoform 2 AP-2alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ACADVL promoter sequence

Search SABiosciences Chromatin IP Primers for ACADVL

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACADVL

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.1 Ensembl cytogenetic band: 17p13.1 HGNC cytogenetic band: 17p13.1

ACADVL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACADVL gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P007120: view genomic region (about GC identifiers)

Start:	7,120,444 bp from pter	End:	7,128,592 bp from pter
Size:	8,149 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ACADV_HUMAN, P49748 (See protein sequence)

Recommended Name: Very long-chain specific acyl-CoA dehydrogenase, mitochondrial precursor

Size: 655 amino acids; 70390 Da

Cofactor: FAD

Subunit: Homodimer

Subcellular location: Mitochondrion inner membrane

Miscellaneous: A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present in

mammalian tissues

2 PDB 3D structures from and Proteopedia for ACADVL:

2UXW (3D)

3B96 (3D)

Secondary accessions: B4DEB6 F5H2A9 O76056 Q8WUL0

Alternative splicing: 3 isoforms: P49748-1 P49748-2 P49748-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ACADVL: NX_P49748

Post-translational modifications:

S-nitrosylation at Cys-237 in liver improves catalytic efficiency (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P49748

4/19 DME Specific Peptides for ACADVL (P49748) (see all 19)

SANMDQG

RFFEEVND

IFTVFAKT

ENVLGEVG

ACADVL Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_000009.1 NP_001029031.1 NP_001257376.1 NP_001257377.1

ENSEMBL proteins:

ENSP00000438689 ENSP00000349297 ENSP00000325395 ENSP00000467920 ENSP00000344152

ENSP00000465353 ENSP00000463246 ENSP00000462366 ENSP00000462611 ENSP00000442082

ENSP00000464254 ENSP00000466487

Reactome Protein details: P49748
Human Recombinant Protein Products:

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	Uscn Proteins for ACADVL

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	ISS	--
GO:0005743	mitochondrial inner membrane	IEA	--
GO:0005759	mitochondrial matrix	TAS	--
GO:0042645	mitochondrial nucleoid	IDA	18063578

ACADVL for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for ACADVL

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ACADVL for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR006090 Acyl-CoA_Oxase/DH_1

IPR009100 AcylCoA_DH/oxidase

IPR013786 AcylCoA_DH/ox_N

IPR006091 Acyl-CoA_Oxase/DH_cen-dom

IPR006089 Acyl-CoA_DH_CS

Graphical View of Domain Structure for InterPro Entry P49748

ProtoNet protein and cluster: P49748

1 Blocks protein family: IPB006089 Acyl-CoA dehydrogenase

UniProtKB/Swiss-Prot: ACADV_HUMAN, P49748

Similarity: Belongs to the acyl-CoA dehydrogenase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ACADV_HUMAN, P49748

Function: Active toward esters of long-chain and very long chain fatty acids such as palmitoyl-CoA, mysritoyl-CoA and

stearoyl-CoA. Can accommodate substrate acyl chain lengths as long as 24 carbons, but shows little activity for

substrates of less than 12 carbons

Catalytic activity: A very-long-chain acyl-CoA + electron-transfer flavoprotein = a very-long-chain

trans-2,3-dehydroacyl-CoA + reduced electron-transfer flavoprotein

Genatlas biochemistry entry for ACADVL:

acyl-CoA dehydrogenase,very long chain,mitochondrial,fatty acid beta-oxidation

Enzyme Numbers (IUBMB): EC 1.3.8.9¹ EC 1.3.99²

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		hsa-miR-34b* hsa-miR-124 hsa-miR-506 hsa-miR-1827 hsa-miR-449c
		SwitchGear 3'UTR luciferase reporter plasmid: ACADVL 3' UTR sequence

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACADVL

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000062	fatty-acyl-CoA binding	--	--
GO:0003995	acyl-CoA dehydrogenase activity	TAS	--
GO:0004466	long-chain-acyl-CoA dehydrogenase activity	TAS	8466512
GO:0017099	very-long-chain-acyl-CoA dehydrogenase activity	--	--
GO:0050660	flavin adenine dinucleotide binding	IEA	--

ACADVL for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for ACADVL:

Upregulation of Wnt/beta-caten

Animal Models:
Mouse knock-outs for ACADVL: Acadvl^tm1Vje Acadvl^tm1Uab
10 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Acadvl):

adipose tissue	behavior/neurological	cardiovascular system	cellular	growth/size
homeostasis/metabolism	liver/biliary system	mortality/aging	muscle	tumorigenesis

ACADVL for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA

	mitochondrial fatty acid beta-oxidation of saturated fatty acids	0.62			Mitochondrial Fatty Acid Beta-Oxidation	0.33
	Beta oxidation of palmitoyl-CoA to myristoyl-CoA	0.33			Expression of ACADVL	0.00

Activation of Chaperone Genes by XBP1(S)

	Activation of Chaperone Genes by XBP1(S)	1.00			Unfolded Protein Response	0.71
	Activation of Chaperones by IRE1alpha	0.94

Metabolism

	Metabolism	1.00			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.38

Fatty Acid Beta Oxidation

	Fatty Acid Beta Oxidation	1.00			Fatty acid metabolism	0.32
	Mitochondrial LC-Fatty Acid Beta-Oxidation	0.35

FOXA2 and FOXA3 transcription factor networks

FOXA2 and FOXA3 transcription factor networks

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

3 BioSystems Pathways for ACADVL

	Fatty Acid Beta Oxidation
	Mitochondrial LC-Fatty Acid Beta-Oxidation
	FOXA2 and FOXA3 transcription factor networks

5/11 Reactome Pathways for ACADVL (see all 11)

	Expression of ACADVL
	mitochondrial fatty acid beta-oxidation of saturated fatty acids
	Metabolism
	Fatty acid, triacylglycerol, and ketone body metabolism
	Mitochondrial Fatty Acid Beta-Oxidation

2 Kegg Pathways (Kegg details for ACADVL):

	Fatty acid metabolism
	Metabolic pathways

UniProtKB/Swiss-Prot: ACADV_HUMAN, P49748

Pathway: Lipid metabolism; mitochondrial fatty acid beta-oxidation

ACADVL for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ACADVL

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/259 Interacting proteins for ACADVL (P49748^{2, 3} ENSP00000325395⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 259)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ICT1	Q14197²^,³, ENSP00000301585⁴	MINT-8079030 I2D: score=1 STRING: ENSP00000301585
CPT2	P23786², ENSP00000360541⁴	MINT-8079030 STRING: ENSP00000360541
SOCS3	O14543³, ENSP00000330341⁴	I2D: score=2 STRING: ENSP00000330341
CDH1	P12830³, ENSP00000261769⁴	I2D: score=2 STRING: ENSP00000261769
HADHA	P40939², ENSP00000370023⁴	MINT-8079030 STRING: ENSP00000370023

About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001659	temperature homeostasis	ISS	--
GO:0006635	fatty acid beta-oxidation	TAS	--
GO:0006987	activation of signaling protein activity involved in unfolded protein response	TAS	--
GO:0015980	energy derivation by oxidation of organic compounds	TAS	7479827
GO:0030968	endoplasmic reticulum unfolded protein response	TAS	--

ACADVL for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ACADVL for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ACADVL

10/33 HMDB Compounds for ACADVL (see all 33) About this table

Compound	Synonyms	CAS #	PubMed Ids
(2E)-Decenoyl-CoA	(E)-S-2-decenoate Coenzyme A (see all 15)	10018-95-8	--
(2E)-Dodecenoyl-CoA	2-trans-Dodecenoyl-Coenzyme A (see all 4)	1066-12-2	--
(2E)-Hexadecenoyl-CoA	trans-2-Hexadecenoyl-CoA (see all 4)	4460-95-1	--
(2E)-Octenoyl-CoA	(E)-S-2-octenoate Coenzyme A (see all 16)	10018-94-7	--
(2E)-Tetradecenoyl-CoA	(2E)-Tetradecenoyl-Coenzyme A (see all 8)	38795-33-4	--
2-Methylbutyryl-CoA	2-methylbutanoyl-CoA (see all 11)	6712-02-3	--
2-Methylhexanoyl-CoA	2-Methylhexanoyl-CoEnzyme A (see all 5)	--	--
3Z-dodecenoyl-CoA	S-[2-[3-[[(2R)-4-[[[(2R,3R,5R)-5-(6-aminopurin-9-yl)-4-hydroxy-3-phosphonooxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-hydroxyphosphoryl]oxy-2-hydroxy-3,3-dimethylbutanoyl]amino]propanoylamino]ethyl] (Z)-dodec-3-enethioate (see all 4)	2152-91-2	--
Acetyl-CoA	S-Acetyl coenzyme A (see all 13)	72-89-9	--
Acrylyl-CoA	Acryloyl coenzyme A (see all 14)	5776-58-9	--

10 Novoseek chemical compound relationships for ACADVL gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
acyl-coa	94.6	106	8845838 (3), 11580910 (2), 18227065 (2), 17374501 (2) (see all 76)
s-adenosylmethionine	76.3	11	15025677 (2), 11433098 (2), 8650121 (1), 10700700 (1) (see all 9)
fatty acid	75.9	41	11433098 (3), 7586519 (2), 8650121 (1), 9498103 (1) (see all 33)
carnitine	70.7	7	9700596 (2), 19399638 (1), 15025677 (1), 10407852 (1) (see all 6)
palmitate	57.6	6	7668252 (1), 16115821 (1), 17825594 (1), 7769092 (1)
acetyl-l-carnitine	42.5	1	11509020 (1)
lipid	9.93	2	17904533 (1), 10407852 (1)
glucose	3.85	1	16435213 (1)
creatinine	2.25	2	11131350 (1), 15024832 (1)
arachidonic acid	0	1	10832093 (1)

Search CenterWatch for drugs/clinical trials and news about ACADVL / ACADV

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ACADVL gene (4 alternative transcripts):

NM_000018.3 NM_001033859.2 NM_001270447.1 NM_001270448.1

Unigene Cluster for ACADVL:

Acyl-CoA dehydrogenase, very long chain

Hs.437178 [show with all ESTs]

Unigene Representative Sequence: NM_001270448

18/40 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 40):

ENST00000543245(uc010vtp.2) ENST00000356839(uc010vtq.1 uc002gev.3 uc002gew.3)

ENST00000322910(uc002gex.3) ENST00000582356 ENST00000583312 ENST00000350303

ENST00000578269 ENST00000579286 ENST00000580263 ENST00000582056 ENST00000577857

ENST00000584103 ENST00000577191 ENST00000578421 ENST00000581562 ENST00000579886

ENST00000577433 ENST00000582166

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Additional cDNA sequence:

AK056083.1 AK222518.1 AK293549.1 BC000399.2 BC012912.1 BC020218.1 D43682.1 X86556.1

24/80 DOTS entries (see all 80):

DT.92459234 DT.454055 DT.92459237 DT.100858265 DT.100695589 DT.100766018 DT.100695612 DT.100695591

DT.101988039 DT.92459240 DT.100695614 DT.100695599 DT.100695607 DT.100695625 DT.102838636 DT.100039205

DT.95116579 DT.100640961 DT.120903015 DT.92459244 DT.120903193 DT.100695590 DT.100039213 DT.100695617

24/672 AceView cDNA sequences (see all 672):

AK056083 BQ671985 BG106431 AK097243 BM918443 AL540355 BQ954887 CB127867

CD365300 AL040455 BM716271 BI821880 BM549977 BU167216 BQ953924 CR609897

BQ919283 CB215054 CA422997 F15775 AW338122 AK058109 AI270679 BG820309

GeneLoc Exon Structure

5/40 Alternative Splicing Database (ASD) splice patterns (SP) for ACADVL (see all 40) About this scheme

ExUns:	1	^	2a	·	2b	·	2c	·	2d	·	2e	·	2f	·	2g	·	2h	^	3a	·	3b	^	4a	·	4b	·	4c	^	5a	·	5b	^	6a	·	6b	^	7	^	8	^	9a	·	9b	·	9c	·	9d	·	9e	^	10a	·
SP1:																							-										-						-												-
SP2:																							-		-		-						-						-												-
SP3:																							-										-						-												-
SP4:																							-										-						-												-
SP5:																					-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-

ExUns:	10b	^	11a	·	11b	·	11c	·	11d	^	12	^	13	^	14a	·	14b	^	15a	·	15b	·	15c	^	16a	·	16b	·	16c	^	17a	·	17b	·	17c	·	17d	·	17e	^	18a	·	18b	·	18c	·	18d	·	18e	^	19a	·
SP1:	-		-		-														-		-		-																-		-		-		-						-
SP2:	-		-		-														-		-		-																-		-		-		-						-
SP3:	-		-		-														-		-		-																-		-		-		-						-
SP4:	-		-		-																																														-
SP5:	-		-		-		-		-		-		-						-		-		-																-		-		-		-						-

ExUns:	19b	^	20a	·	20b	^	21a	·	21b	·	21c	^	22a	·	22b	·	22c	^	23	^	24a	·	24b	^	25a	·	25b	·	25c	^	26a	·	26b	·	26c	·	26d	·	26e	^	27a	·	27b
SP1:													-		-														-						-
SP2:													-		-														-						-
SP3:													-		-														-						-
SP4:													-		-														-						-
SP5:													-		-														-						-

ECgene alternative splicing isoforms for ACADVL

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ACADVL expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCCGCCCTGC

About this image

ACADVL expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Adipose

Interscapular Brown Adipose Depot

Adipose

Thoracic Perivascular Adipose

Adipose

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ACADVL Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ACADVL

SOURCE GeneReport for Unigene cluster: Hs.437178

SABiosciences Expression via Pathway-Focused PCR Arrays including ACADVL:

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for ACADVL gene from 5/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ACAD10⁶	Uncharacterized protein		possible ortholog	15(6247564-6258496)
African clawed frog (Xenopus laevis)	Amphibia	Xl.5835²	Xenopus laevis transcribed sequence with weak similarity more	74.91(n)		BQ732139.1
zebrafish (Danio rerio)	Actinopterygii	wufb52d04²	Danio rerio cDNA clone MGC64067 IMAGE6794327, complete more	76.71(n)		BC054606.1
fruit fly (Drosophila melanogaster)	Insecta	CG7461^{1 , 3}	very long-chain acyl-CoA dehydrogenase³ CG7461¹	57(a)³ 57.4(n)¹ 57.63(a)¹		37217¹ NM_137565.2¹ NP_611409.2¹
worm (Caenorhabditis elegans)	Secernentea	E04F6.5³ acdh-12¹	Isovaleryl-CoA dehydrogenase³ Protein ACDH-12¹	48(a) (best of 2)³ 52.07(n)¹ 49.31(a)¹		II(7192522-7194696)³ 174180¹ NM_001026891.3¹ NP_001022062.1¹

ENSEMBL Gene Tree for ACADVL (if available)
TreeFam Gene Tree for ACADVL (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ACADVL gene

ACADL² ACAD8² ACADSB² ACAD11² GCDH² ACADS² ACAD9² ACAD10²

ACADM² IVD²

6 SIMAP similar genes for ACADVL using alignment to 11 protein entries: ACADV_HUMAN (see all proteins):

ACAD9 IVD ACADSB ACADM ACAD8 ACADS

ACADVL for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs2230179^1,2	C,F,	non-pathogenic	7015342(+)	`TGAGGC/TTCGGG`	1	--	ut5¹ ese³		6		MN NA WA	3546
rs34153370^1,2	C,	non-pathogenic	7015436(-)	`TGAGCC/TGCGAG`	1	--	us2k¹		1		NA	32
rs2230178^1,2	C,F,	non-pathogenic	7015496(+)	`CGGGGG/ATGCCG`	1	--	us2k¹ ese³		5		MN NA WA EA	176
rs28934585^1,2	C,F,	non-pathogenic	7015828(+)	`AAAACC/TGGCCA`	1	--	us2k¹ ese³		7		NA WA EU	6059
rs9674^1,2	C	non-pathogenic	7020403(+)	`GGCTTC/TTGAAT`	8	F	syn¹ ese³		3		MN NA	188
rs8064573^1,2	C,F,H,	non-pathogenic	7126145(+)	`GCTGCG/AGCCCT`	9	/A	ds500¹ syn¹ ese³		14		NS EA NA WA EU	7125
rs35501596^1,2	C,F,	non-pathogenic	7127146(-)	`GTCACC/TTTCCA`	9	K	syn¹ us2k¹		3		NA EU	5927
rs2230180^1,2	C,F,	non-pathogenic	7127707(+)	`GTGGCG/AAGCTG`	9	/K /E	us2k¹ mis¹		4		MN NA	4498
rs113994167^1,2	C,F	pathogenic	7125591(+)	`TTTTGT/CGGTGG`	8	/A /V	mis¹		1		NA	4544
rs113994169^1,2	C,	pathogenic	7127006(+)	`AGCCAC/TGGACT`	9	T M	mis¹ us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ACADVL (7120444 - 7128592 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ACADVL: --
Human Gene Mutation Database (HGMD): ACADVL

Locus Specific Mutation Databases (LSDB): ACADVL

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ACADVL for disorders           About GeneDecksing

OMIM gene information: 609575
OMIM disorders: 201475
UniProtKB/Swiss-Prot: ACADV_HUMAN, P49748

Defects in ACADVL are the cause of acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475].

ACADVLD is an autosomal recessive disease which leads to impaired long-chain fatty acid beta-oxidation. It is

clinically heterogeneous, with three major phenotypes: a severe childhood form, with early onset, high mortality, and

high incidence of cardiomyopathy; a milder childhood form, with later onset, usually with hypoketotic hypoglycemia as

the main presenting feature, low mortality, and rare cardiomyopathy; and an adult form, with isolated skeletal muscle

involvement, rhabdomyolysis, and myoglobinuria, usually triggered by exercise or fasting

20/25 diseases for ACADVL (see all 25): About MalaCards

acyl-coa dehydrogenase 3-hydroxyacyl-coa dehydrogenase deficiency sudden infant death syndrome fatty acid oxidation disorders

myoglobinuria recurrent cardiomyopathy pericardial effusion vlcad deficiency

ventricular tachycardia autosomal recessive disease metabolic disorders hyperargininemia

cervical squamous cell carcinoma squamous cell carcinoma hypertrophic cardiomyopathy respiratory failure

hypoglycemia adrenocortical tumor myopathy twinning

3 diseases from the University of Copenhagen DISEASES database for ACADVL:

Systemic primary carnitine deficiency disease Hypoglycemia Hyperargininemia

10/17 Novoseek disease relationships for ACADVL gene (see all 17) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
rhabdomyolysis	80.5	14	19327992 (2), 12931630 (2), 16435213 (1), 16288870 (1) (see all 10)
mcad deficiency	78.5	4	8650121 (1), 12487544 (1), 7586519 (1), 15193981 (1)
myoglobinuria, recurrent	73.6	1	10738914 (1)
cardiomyopathy	71.1	21	7479827 (2), 9877038 (2), 9709714 (1), 17206456 (1) (see all 15)
hypoglycemia	65.9	15	16199475 (2), 16435213 (1), 17206456 (1), 12359260 (1) (see all 12)
myopathy	61.3	7	19157942 (1), 15210884 (1), 9877038 (1), 15025677 (1) (see all 6)
sudden infant death syndrome	48	2	15210884 (1), 11433098 (1)
liver dysfunction	47	5	12359260 (1), 16621643 (1), 19156135 (1), 16880373 (1)
death sudden	41.7	7	16199475 (1), 12359260 (1), 7479827 (1), 19156135 (1) (see all 5)
fatty liver	38.4	2	11131350 (1), 11433098 (1)

Genatlas disease: ACADVL

ACADVL deficiency presenting a severe childhood form with early onset,hypertrophic cardiomyopathy(may be associated

with the variant T171I of ETFA) and a high mortality;a milder childhood form with later onset, hypoketotic

hypoglycemia,rare cardiomyopathy;an adult form with isolated skeletal muscle involvement,rhabdomyolysis and

myoglobinuria triggered by exercise or fasting

GeneTests: ACADVL

Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Human Genome Epidemiology (HuGE) Navigator: ACADVL (3 documents)

Export disorders for ACADVL gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ACADVL gene, integrated from 9 sources (see all 134):
(articles sorted by number of sources associating them with ACADVL)

Utopia: connect your pdf to the dynamic
world of online information

Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene. (PubMed id 8845838)^{1, 2, 9} Andresen B.S.... Gregersen N. (1996)
Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. (PubMed id 7668252)^{1, 2, 9} Aoyama T.... Hashimoto T. (1995)
Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients. (PubMed id 8554073)^{1, 2, 9} Souri M.... Hashimoto T. (1996)
Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. (PubMed id 7769092)^{1, 2, 9} Aoyama T.... Hashimoto T. (1995)
Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. (PubMed id 10077518)^{1, 2, 9} Mathur A.... Strauss A.W. (1999)
Genomic DNA organization of human mitochondrial very-long-chain acyl- CoA dehydrogenase and mutation analysis. (PubMed id 8554625)^{1, 2, 9} Orii K.O....Hashimoto T. (1995)
Clear correlation of genotype with disease phenotype in very-long- chain acyl-CoA dehydrogenase deficiency. (PubMed id 9973285)^{1, 2, 9} Andresen B.S.... Gregersen N. (1999)
Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. (PubMed id 9546340)^{1, 2, 9} Smelt A.H.... Wintzen A.R. (1998)
Assignment of the human mitochondrial very-long-chain acyl-CoA dehydrogenase gene (LCACD) to 17p13 by in situ hybridization. (PubMed id 8921384)^{1, 3, 9} Aoyama T....Hashimoto T. (1996)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 37	HGNC: 92	AceView: ACADVL	Ensembl:ENSG00000072778	euGenes: HUgn37
ECgene: ACADVL	Kegg: 37	H-InvDB: ACADVL

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ACADVL	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACADVL

Intellectual Property for ACADVL gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ACADVL gene:
Search GeneIP for patents involving ACADVL

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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acyl-CoA dehydrogenase, very long chain

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ACADVL Gene

acyl-CoA dehydrogenase, very long chain

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