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Protein

Very long-chain specific acyl-CoA dehydrogenase, mitochondrial

Gene

ACADVL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.1 Publication

Catalytic activityi

A very-long-chain acyl-CoA + electron-transfer flavoprotein = a very-long-chain trans-2,3-dehydroacyl-CoA + reduced electron-transfer flavoprotein.

Cofactori

FAD1 Publication

Pathwayi: mitochondrial fatty acid beta-oxidation

This protein is involved in the pathway mitochondrial fatty acid beta-oxidation, which is part of Lipid metabolism.
View all proteins of this organism that are known to be involved in the pathway mitochondrial fatty acid beta-oxidation and in Lipid metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei223Substrate; via carbonyl oxygenBy similarity1
Binding sitei366FADBy similarity1
Active sitei462Proton acceptor1 Publication1
Binding sitei463Substrate; via amide nitrogenBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi214 – 223FAD10
Nucleotide bindingi249 – 251FAD3
Nucleotide bindingi435 – 439FADBy similarity5
Nucleotide bindingi464 – 466FAD3

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Fatty acid metabolism, Lipid metabolism

Keywords - Ligandi

FAD, Flavoprotein

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000072778-MONOMER.
ZFISH:ENSG00000072778-MONOMER.
BRENDAi1.3.8.8. 2681.
ReactomeiR-HSA-381038. XBP1(S) activates chaperone genes.
R-HSA-77305. Beta oxidation of palmitoyl-CoA to myristoyl-CoA.
UniPathwayiUPA00660.

Chemistry databases

SwissLipidsiSLP:000001330. [P49748-2]
SLP:000001332.

Names & Taxonomyi

Protein namesi
Recommended name:
Very long-chain specific acyl-CoA dehydrogenase, mitochondrial (EC:1.3.8.9)
Short name:
VLCAD
Gene namesi
Name:ACADVL
Synonyms:VLCAD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:92. ACADVL.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn inborn error of mitochondrial fatty acid beta-oxidation which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes: a severe childhood form characterized by early onset, high mortality and high incidence of cardiomyopathy; a milder childhood form with later onset, characterized by hypoketotic hypoglycemia, low mortality and rare cardiomyopathy; an adult form, with isolated skeletal muscle involvement, rhabdomyolysis and myoglobinuria, usually triggered by exercise or fasting.
See also OMIM:201475
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_000331130Missing in ACADVLD. 1 Publication1
Natural variantiVAR_000332158T → N in ACADVLD. 1
Natural variantiVAR_000333159Q → R in ACADVLD. Corresponds to variant rs746688190dbSNPEnsembl.1
Natural variantiVAR_000334174V → M in ACADVLD. Corresponds to variant rs369560930dbSNPEnsembl.1
Natural variantiVAR_000335185G → S in ACADVLD. Corresponds to variant rs545215807dbSNPEnsembl.1
Natural variantiVAR_010101213A → P in ACADVLD. Corresponds to variant rs140629318dbSNPEnsembl.1
Natural variantiVAR_000336218E → K in ACADVLD. 1
Natural variantiVAR_000337243L → R in ACADVLD. 1
Natural variantiVAR_010102247K → E in ACADVLD. 1
Natural variantiVAR_000338247K → T in ACADVLD. 1
Natural variantiVAR_000339260T → M in ACADVLD. Corresponds to variant rs113994168dbSNPEnsembl.1
Natural variantiVAR_000340278Missing in ACADVLD. 1
Natural variantiVAR_000341281A → D in ACADVLD. 1
Natural variantiVAR_000342283V → A in ACADVLD. Corresponds to variant rs113994167dbSNPEnsembl.1
Natural variantiVAR_000343290G → D in ACADVLD. 1
Natural variantiVAR_000344294G → E in ACADVLD. Corresponds to variant rs200573371dbSNPEnsembl.1
Natural variantiVAR_000345299K → N in ACADVLD. Corresponds to variant rs774716484dbSNPEnsembl.1
Natural variantiVAR_000346299Missing in ACADVLD. 1 Publication1
Natural variantiVAR_000347317V → A in ACADVLD. Corresponds to variant rs398123095dbSNPEnsembl.1
Natural variantiVAR_000348352M → V in ACADVLD. 1
Natural variantiVAR_000349366R → C in ACADVLD. Corresponds to variant rs771874163dbSNPEnsembl.1
Natural variantiVAR_000350366R → H in ACADVLD. Corresponds to variant rs112406105dbSNPEnsembl.1
Natural variantiVAR_000351381Missing in ACADVLD. 1
Natural variantiVAR_000352382K → Q in ACADVLD. 1 PublicationCorresponds to variant rs118204015dbSNPEnsembl.1
Natural variantiVAR_000353405D → H in ACADVLD. 1
Natural variantiVAR_000354441G → D in ACADVLD. Corresponds to variant rs2309689dbSNPEnsembl.1
Natural variantiVAR_000355450R → H in ACADVLD. 1 PublicationCorresponds to variant rs118204016dbSNPEnsembl.1
Natural variantiVAR_000356453R → Q in ACADVLD. Corresponds to variant rs138058572dbSNPEnsembl.1
Natural variantiVAR_000357454D → N in ACADVLD. 1
Natural variantiVAR_000358456R → H in ACADVLD. Corresponds to variant rs794727112dbSNPEnsembl.1
Natural variantiVAR_010103458F → L in ACADVLD. Corresponds to variant rs118204017dbSNPEnsembl.1
Natural variantiVAR_000359459R → W in ACADVLD. Corresponds to variant rs766742117dbSNPEnsembl.1
Natural variantiVAR_000360463G → E in ACADVLD. Corresponds to variant rs200366828dbSNPEnsembl.1
Natural variantiVAR_000361469R → Q in ACADVLD. Corresponds to variant rs398123083dbSNPEnsembl.1
Natural variantiVAR_000362469R → W in ACADVLD. Corresponds to variant rs113994170dbSNPEnsembl.1
Natural variantiVAR_010104490A → P in ACADVLD. Corresponds to variant rs759775666dbSNPEnsembl.1
Natural variantiVAR_000363502L → P in ACADVLD. 1
Natural variantiVAR_010105534E → K in ACADVLD. Corresponds to variant rs2230180dbSNPEnsembl.1
Natural variantiVAR_000364602L → I in ACADVLD. 1
Natural variantiVAR_000365613R → W in ACADVLD. 1 PublicationCorresponds to variant rs118204014dbSNPEnsembl.1
Natural variantiVAR_010106615R → Q in ACADVLD. Corresponds to variant rs148584617dbSNPEnsembl.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNETi37.
MalaCardsiACADVL.
MIMi201475. phenotype.
OpenTargetsiENSG00000072778.
Orphaneti26793. Very long chain acyl-CoA dehydrogenase deficiency.
PharmGKBiPA24428.

Polymorphism and mutation databases

BioMutaiACADVL.
DMDMi1703068.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 40MitochondrionCombined sourcesAdd BLAST40
ChainiPRO_000000051541 – 655Very long-chain specific acyl-CoA dehydrogenase, mitochondrialAdd BLAST615

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei51N6-acetyllysineBy similarity1
Modified residuei71N6-acetyllysine; alternateBy similarity1
Modified residuei71N6-succinyllysine; alternateBy similarity1
Modified residuei195N6-succinyllysineBy similarity1
Modified residuei237S-nitrosocysteineBy similarity1
Modified residuei239N6-acetyllysine; alternateCombined sources1
Modified residuei239N6-succinyllysine; alternateBy similarity1
Modified residuei276N6-acetyllysine; alternateBy similarity1
Modified residuei276N6-succinyllysine; alternateBy similarity1
Modified residuei278N6-acetyllysine; alternateBy similarity1
Modified residuei278N6-succinyllysine; alternateBy similarity1
Modified residuei298N6-acetyllysineBy similarity1
Modified residuei331N6-acetyllysine; alternateCombined sources1
Modified residuei331N6-succinyllysine; alternateBy similarity1
Modified residuei372N6-succinyllysineBy similarity1
Modified residuei482N6-acetyllysine; alternateBy similarity1
Modified residuei482N6-succinyllysine; alternateBy similarity1
Modified residuei517PhosphoserineCombined sources1
Modified residuei522PhosphoserineCombined sources1
Modified residuei550N6-acetyllysineBy similarity1
Modified residuei556N6-acetyllysine; alternateBy similarity1
Modified residuei556N6-succinyllysine; alternateBy similarity1
Modified residuei639N6-succinyllysineBy similarity1

Post-translational modificationi

S-nitrosylation at Cys-237 in liver improves catalytic efficiency.By similarity

Keywords - PTMi

Acetylation, Phosphoprotein, S-nitrosylation

Proteomic databases

EPDiP49748.
MaxQBiP49748.
PaxDbiP49748.
PeptideAtlasiP49748.
PRIDEiP49748.

PTM databases

iPTMnetiP49748.
PhosphoSitePlusiP49748.
SwissPalmiP49748.

Expressioni

Gene expression databases

BgeeiENSG00000072778.
CleanExiHS_ACADVL.
ExpressionAtlasiP49748. baseline and differential.
GenevisibleiP49748. HS.

Organism-specific databases

HPAiHPA019006.
HPA020595.

Interactioni

Subunit structurei

Homodimer.1 Publication

Protein-protein interaction databases

BioGridi106555. 38 interactors.
IntActiP49748. 17 interactors.
MINTiMINT-4824254.
STRINGi9606.ENSP00000349297.

Structurei

Secondary structure

1655
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi73 – 77Combined sources5
Turni78 – 80Combined sources3
Turni85 – 87Combined sources3
Helixi96 – 115Combined sources20
Helixi119 – 125Combined sources7
Helixi130 – 138Combined sources9
Turni139 – 142Combined sources4
Helixi148 – 150Combined sources3
Helixi157 – 170Combined sources14
Helixi172 – 182Combined sources11
Turni183 – 186Combined sources4
Helixi187 – 192Combined sources6
Helixi195 – 206Combined sources12
Beta strandi212 – 215Combined sources4
Beta strandi221 – 223Combined sources3
Helixi225 – 227Combined sources3
Beta strandi231 – 234Combined sources4
Beta strandi238 – 251Combined sources14
Turni252 – 255Combined sources4
Beta strandi257 – 268Combined sources12
Turni270 – 272Combined sources3
Beta strandi275 – 285Combined sources11
Helixi286 – 288Combined sources3
Beta strandi289 – 293Combined sources5
Beta strandi307 – 318Combined sources12
Helixi319 – 321Combined sources3
Beta strandi322 – 325Combined sources4
Helixi329 – 365Combined sources37
Helixi373 – 375Combined sources3
Helixi377 – 405Combined sources29
Helixi412 – 437Combined sources26
Helixi439 – 442Combined sources4
Helixi448 – 455Combined sources8
Helixi456 – 459Combined sources4
Beta strandi461 – 463Combined sources3
Helixi465 – 485Combined sources21
Helixi486 – 488Combined sources3
Turni522 – 524Combined sources3
Helixi527 – 529Combined sources3
Helixi530 – 554Combined sources25
Helixi555 – 560Combined sources6
Helixi562 – 591Combined sources30
Helixi596 – 622Combined sources27
Helixi627 – 644Combined sources18

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2UXWX-ray1.45A72-655[»]
3B96X-ray1.91A69-655[»]
ProteinModelPortaliP49748.
SMRiP49748.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP49748.

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni41 – 482CatalyticAdd BLAST442
Regioni338 – 341Substrate bindingBy similarity4
Regioni462 – 463Substrate binding2
Regioni483 – 516Membrane-anchoringCuratedAdd BLAST34

Sequence similaritiesi

Belongs to the acyl-CoA dehydrogenase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG0137. Eukaryota.
COG1960. LUCA.
GeneTreeiENSGT00760000119007.
HOGENOMiHOG000131665.
HOVERGENiHBG050448.
InParanoidiP49748.
KOiK09479.
OMAiTNRTQFG.
OrthoDBiEOG091G04BS.
PhylomeDBiP49748.
TreeFamiTF105053.

Family and domain databases

Gene3Di1.10.540.10. 1 hit.
InterProiIPR006089. Acyl-CoA_DH_CS.
IPR006091. Acyl-CoA_Oxase/DH_cen-dom.
IPR009075. AcylCo_DH/oxidase_C.
IPR013786. AcylCoA_DH/ox_N.
IPR009100. AcylCoA_DH/oxidase_NM_dom.
[Graphical view]
PfamiPF00441. Acyl-CoA_dh_1. 1 hit.
PF02770. Acyl-CoA_dh_M. 1 hit.
PF02771. Acyl-CoA_dh_N. 1 hit.
[Graphical view]
SUPFAMiSSF47203. SSF47203. 1 hit.
SSF56645. SSF56645. 1 hit.
PROSITEiPS00072. ACYL_COA_DH_1. 1 hit.
PS00073. ACYL_COA_DH_2. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P49748-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MQAARMAASL GRQLLRLGGG SSRLTALLGQ PRPGPARRPY AGGAAQLALD
60 70 80 90 100
KSDSHPSDAL TRKKPAKAES KSFAVGMFKG QLTTDQVFPY PSVLNEEQTQ
110 120 130 140 150
FLKELVEPVS RFFEEVNDPA KNDALEMVEE TTWQGLKELG AFGLQVPSEL
160 170 180 190 200
GGVGLCNTQY ARLVEIVGMH DLGVGITLGA HQSIGFKGIL LFGTKAQKEK
210 220 230 240 250
YLPKLASGET VAAFCLTEPS SGSDAASIRT SAVPSPCGKY YTLNGSKLWI
260 270 280 290 300
SNGGLADIFT VFAKTPVTDP ATGAVKEKIT AFVVERGFGG ITHGPPEKKM
310 320 330 340 350
GIKASNTAEV FFDGVRVPSE NVLGEVGSGF KVAMHILNNG RFGMAAALAG
360 370 380 390 400
TMRGIIAKAV DHATNRTQFG EKIHNFGLIQ EKLARMVMLQ YVTESMAYMV
410 420 430 440 450
SANMDQGATD FQIEAAISKI FGSEAAWKVT DECIQIMGGM GFMKEPGVER
460 470 480 490 500
VLRDLRIFRI FEGTNDILRL FVALQGCMDK GKELSGLGSA LKNPFGNAGL
510 520 530 540 550
LLGEAGKQLR RRAGLGSGLS LSGLVHPELS RSGELAVRAL EQFATVVEAK
560 570 580 590 600
LIKHKKGIVN EQFLLQRLAD GAIDLYAMVV VLSRASRSLS EGHPTAQHEK
610 620 630 640 650
MLCDTWCIEA AARIREGMAA LQSDPWQQEL YRNFKSISKA LVERGGVVTS

NPLGF
Length:655
Mass (Da):70,390
Last modified:October 1, 1996 - v1
Checksum:iA5594D1EA7911D19
GO
Isoform 2 (identifier: P49748-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     47-68: Missing.

Note: No experimental confirmation available.
Show »
Length:633
Mass (Da):68,058
Checksum:iD84E8F01DF1E8958
GO
Isoform 3 (identifier: P49748-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-20: MQAARMAASLGRQLLRLGGG → MLGGLAAAAGTRIMGKEIEAEAQRPLRQTWRPGQPPAMTAKTM

Note: No experimental confirmation available.
Show »
Length:678
Mass (Da):72,927
Checksum:i65A9CFB675A59E94
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti193G → C in BAA29057 (PubMed:8554625).Curated1
Sequence conflicti200K → E in BAG57027 (PubMed:14702039).Curated1
Sequence conflicti541E → K in BAG57027 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02928617L → F.Corresponds to variant rs2230179dbSNPEnsembl.1
Natural variantiVAR_00033043G → D.Corresponds to variant rs2230178dbSNPEnsembl.1
Natural variantiVAR_04817665P → L.Corresponds to variant rs28934585dbSNPEnsembl.1
Natural variantiVAR_000331130Missing in ACADVLD. 1 Publication1
Natural variantiVAR_000332158T → N in ACADVLD. 1
Natural variantiVAR_000333159Q → R in ACADVLD. Corresponds to variant rs746688190dbSNPEnsembl.1
Natural variantiVAR_000334174V → M in ACADVLD. Corresponds to variant rs369560930dbSNPEnsembl.1
Natural variantiVAR_000335185G → S in ACADVLD. Corresponds to variant rs545215807dbSNPEnsembl.1
Natural variantiVAR_010101213A → P in ACADVLD. Corresponds to variant rs140629318dbSNPEnsembl.1
Natural variantiVAR_000336218E → K in ACADVLD. 1
Natural variantiVAR_000337243L → R in ACADVLD. 1
Natural variantiVAR_010102247K → E in ACADVLD. 1
Natural variantiVAR_000338247K → T in ACADVLD. 1
Natural variantiVAR_000339260T → M in ACADVLD. Corresponds to variant rs113994168dbSNPEnsembl.1
Natural variantiVAR_000340278Missing in ACADVLD. 1
Natural variantiVAR_000341281A → D in ACADVLD. 1
Natural variantiVAR_000342283V → A in ACADVLD. Corresponds to variant rs113994167dbSNPEnsembl.1
Natural variantiVAR_000343290G → D in ACADVLD. 1
Natural variantiVAR_000344294G → E in ACADVLD. Corresponds to variant rs200573371dbSNPEnsembl.1
Natural variantiVAR_000345299K → N in ACADVLD. Corresponds to variant rs774716484dbSNPEnsembl.1
Natural variantiVAR_000346299Missing in ACADVLD. 1 Publication1
Natural variantiVAR_000347317V → A in ACADVLD. Corresponds to variant rs398123095dbSNPEnsembl.1
Natural variantiVAR_000348352M → V in ACADVLD. 1
Natural variantiVAR_011990359A → S.Corresponds to variant rs1051701dbSNPEnsembl.1
Natural variantiVAR_000349366R → C in ACADVLD. Corresponds to variant rs771874163dbSNPEnsembl.1
Natural variantiVAR_000350366R → H in ACADVLD. Corresponds to variant rs112406105dbSNPEnsembl.1
Natural variantiVAR_000351381Missing in ACADVLD. 1
Natural variantiVAR_000352382K → Q in ACADVLD. 1 PublicationCorresponds to variant rs118204015dbSNPEnsembl.1
Natural variantiVAR_000353405D → H in ACADVLD. 1
Natural variantiVAR_000354441G → D in ACADVLD. Corresponds to variant rs2309689dbSNPEnsembl.1
Natural variantiVAR_000355450R → H in ACADVLD. 1 PublicationCorresponds to variant rs118204016dbSNPEnsembl.1
Natural variantiVAR_000356453R → Q in ACADVLD. Corresponds to variant rs138058572dbSNPEnsembl.1
Natural variantiVAR_000357454D → N in ACADVLD. 1
Natural variantiVAR_000358456R → H in ACADVLD. Corresponds to variant rs794727112dbSNPEnsembl.1
Natural variantiVAR_010103458F → L in ACADVLD. Corresponds to variant rs118204017dbSNPEnsembl.1
Natural variantiVAR_000359459R → W in ACADVLD. Corresponds to variant rs766742117dbSNPEnsembl.1
Natural variantiVAR_000360463G → E in ACADVLD. Corresponds to variant rs200366828dbSNPEnsembl.1
Natural variantiVAR_000361469R → Q in ACADVLD. Corresponds to variant rs398123083dbSNPEnsembl.1
Natural variantiVAR_000362469R → W in ACADVLD. Corresponds to variant rs113994170dbSNPEnsembl.1
Natural variantiVAR_010104490A → P in ACADVLD. Corresponds to variant rs759775666dbSNPEnsembl.1
Natural variantiVAR_000363502L → P in ACADVLD. 1
Natural variantiVAR_010105534E → K in ACADVLD. Corresponds to variant rs2230180dbSNPEnsembl.1
Natural variantiVAR_000364602L → I in ACADVLD. 1
Natural variantiVAR_000365613R → W in ACADVLD. 1 PublicationCorresponds to variant rs118204014dbSNPEnsembl.1
Natural variantiVAR_010106615R → Q in ACADVLD. Corresponds to variant rs148584617dbSNPEnsembl.1
Natural variantiVAR_011991623S → F.Corresponds to variant rs13383dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0460311 – 20MQAAR…RLGGG → MLGGLAAAAGTRIMGKEIEA EAQRPLRQTWRPGQPPAMTA KTM in isoform 3. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_00773447 – 68Missing in isoform 2. 1 PublicationAdd BLAST22

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D43682 mRNA. Translation: BAA07781.1.
L46590 Genomic DNA. Translation: AAA79002.1.
X86556 mRNA. Translation: CAA60253.1.
D78298 Genomic DNA. Translation: BAA29057.1.
AK293549 mRNA. Translation: BAG57027.1.
AC120057 Genomic DNA. No translation available.
BC000399 mRNA. Translation: AAH00399.1.
BC012912 mRNA. Translation: AAH12912.1.
BC020218 mRNA. Translation: AAH20218.1.
CCDSiCCDS11090.1. [P49748-1]
CCDS42249.1. [P49748-2]
CCDS58509.1. [P49748-3]
PIRiS54183.
RefSeqiNP_000009.1. NM_000018.3. [P49748-1]
NP_001029031.1. NM_001033859.2. [P49748-2]
NP_001257376.1. NM_001270447.1. [P49748-3]
UniGeneiHs.437178.

Genome annotation databases

EnsembliENST00000350303; ENSP00000344152; ENSG00000072778. [P49748-2]
ENST00000356839; ENSP00000349297; ENSG00000072778. [P49748-1]
ENST00000543245; ENSP00000438689; ENSG00000072778. [P49748-3]
GeneIDi37.
KEGGihsa:37.
UCSCiuc002gev.5. human. [P49748-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D43682 mRNA. Translation: BAA07781.1.
L46590 Genomic DNA. Translation: AAA79002.1.
X86556 mRNA. Translation: CAA60253.1.
D78298 Genomic DNA. Translation: BAA29057.1.
AK293549 mRNA. Translation: BAG57027.1.
AC120057 Genomic DNA. No translation available.
BC000399 mRNA. Translation: AAH00399.1.
BC012912 mRNA. Translation: AAH12912.1.
BC020218 mRNA. Translation: AAH20218.1.
CCDSiCCDS11090.1. [P49748-1]
CCDS42249.1. [P49748-2]
CCDS58509.1. [P49748-3]
PIRiS54183.
RefSeqiNP_000009.1. NM_000018.3. [P49748-1]
NP_001029031.1. NM_001033859.2. [P49748-2]
NP_001257376.1. NM_001270447.1. [P49748-3]
UniGeneiHs.437178.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2UXWX-ray1.45A72-655[»]
3B96X-ray1.91A69-655[»]
ProteinModelPortaliP49748.
SMRiP49748.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106555. 38 interactors.
IntActiP49748. 17 interactors.
MINTiMINT-4824254.
STRINGi9606.ENSP00000349297.

Chemistry databases

SwissLipidsiSLP:000001330. [P49748-2]
SLP:000001332.

PTM databases

iPTMnetiP49748.
PhosphoSitePlusiP49748.
SwissPalmiP49748.

Polymorphism and mutation databases

BioMutaiACADVL.
DMDMi1703068.

Proteomic databases

EPDiP49748.
MaxQBiP49748.
PaxDbiP49748.
PeptideAtlasiP49748.
PRIDEiP49748.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000350303; ENSP00000344152; ENSG00000072778. [P49748-2]
ENST00000356839; ENSP00000349297; ENSG00000072778. [P49748-1]
ENST00000543245; ENSP00000438689; ENSG00000072778. [P49748-3]
GeneIDi37.
KEGGihsa:37.
UCSCiuc002gev.5. human. [P49748-1]

Organism-specific databases

CTDi37.
DisGeNETi37.
GeneCardsiACADVL.
GeneReviewsiACADVL.
HGNCiHGNC:92. ACADVL.
HPAiHPA019006.
HPA020595.
MalaCardsiACADVL.
MIMi201475. phenotype.
609575. gene.
neXtProtiNX_P49748.
OpenTargetsiENSG00000072778.
Orphaneti26793. Very long chain acyl-CoA dehydrogenase deficiency.
PharmGKBiPA24428.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0137. Eukaryota.
COG1960. LUCA.
GeneTreeiENSGT00760000119007.
HOGENOMiHOG000131665.
HOVERGENiHBG050448.
InParanoidiP49748.
KOiK09479.
OMAiTNRTQFG.
OrthoDBiEOG091G04BS.
PhylomeDBiP49748.
TreeFamiTF105053.

Enzyme and pathway databases

UniPathwayiUPA00660.
BioCyciMetaCyc:ENSG00000072778-MONOMER.
ZFISH:ENSG00000072778-MONOMER.
BRENDAi1.3.8.8. 2681.
ReactomeiR-HSA-381038. XBP1(S) activates chaperone genes.
R-HSA-77305. Beta oxidation of palmitoyl-CoA to myristoyl-CoA.

Miscellaneous databases

ChiTaRSiACADVL. human.
EvolutionaryTraceiP49748.
GenomeRNAii37.
PROiP49748.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000072778.
CleanExiHS_ACADVL.
ExpressionAtlasiP49748. baseline and differential.
GenevisibleiP49748. HS.

Family and domain databases

Gene3Di1.10.540.10. 1 hit.
InterProiIPR006089. Acyl-CoA_DH_CS.
IPR006091. Acyl-CoA_Oxase/DH_cen-dom.
IPR009075. AcylCo_DH/oxidase_C.
IPR013786. AcylCoA_DH/ox_N.
IPR009100. AcylCoA_DH/oxidase_NM_dom.
[Graphical view]
PfamiPF00441. Acyl-CoA_dh_1. 1 hit.
PF02770. Acyl-CoA_dh_M. 1 hit.
PF02771. Acyl-CoA_dh_N. 1 hit.
[Graphical view]
SUPFAMiSSF47203. SSF47203. 1 hit.
SSF56645. SSF56645. 1 hit.
PROSITEiPS00072. ACYL_COA_DH_1. 1 hit.
PS00073. ACYL_COA_DH_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiACADV_HUMAN
AccessioniPrimary (citable) accession number: P49748
Secondary accession number(s): B4DEB6
, F5H2A9, O76056, Q8WUL0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: November 30, 2016
This is version 175 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present in mammalian tissues.

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.