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Reviewed, UniProtKB/Swiss-Prot P49748 (ACADV_HUMAN)

Last modified November 25, 2008. Version 90. Feed History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Very long-chain specific acyl-CoA dehydrogenase, mitochondrial
      Short name=VLCAD
    EC=1.3.99.-
Gene names
Name: ACADVL
Synonyms: VLCAD
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length655 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

Active toward esters of long-chain and very long chain fatty acids such as palmitoyl-CoA, mysritoyl-CoA and stearoyl-CoA. Can accomodate substrate acyl chain lengths as long as 24 carbons, but shows little activity for substrates of less than 12 carbons.

Catalytic activity

Acyl-CoA + ETF = 2,3-dehydroacyl-CoA + reduced ETF.

Cofactor

FAD.

Pathway

Lipid metabolism; mitochondrial fatty acid beta-oxidation.

Subunit structure

Homodimer.

Subcellular location

Mitochondrion inner membrane.

Involvement in disease

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

Miscellaneous

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

Sequence similarities

Belongs to the acyl-CoA dehydrogenase family.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P49748-1)

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.
Isoform 2 (identifier: P49748-2)

The sequence of this isoform differs from the canonical sequence as follows:
     47-68: Missing.
Notes: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 4040Mitochondrion By similarity
Chain41 – 655615Very long-chain specific acyl-CoA dehydrogenase, mitochondrial
PRO_0000000515

Regions

Region41 – 482442Catalytic
Region483 – 51634Membrane-anchoring Probable

Sites

Active site4621Proton acceptor

Amino acid modifications

Modified residue2391N6-acetyllysine By similarity
Modified residue2761N6-acetyllysine By similarity
Cross-link331Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity

Natural variations

Alternative sequence47 – 6822Missing in isoform 2.
VSP_007734
Natural variant171L → F: dbSNP rs2230179.
VAR_029286
Natural variant431G → D in VLCAD deficiency; could be a polymorphism. dbSNP rs2230178.
VAR_000330
Natural variant1301Missing in VLCAD deficiency.
VAR_000331
Natural variant1581T → N in VLCAD deficiency.
VAR_000332
Natural variant1591Q → R in VLCAD deficiency.
VAR_000333
Natural variant1741V → M in VLCAD deficiency.
VAR_000334
Natural variant1851G → S in VLCAD deficiency.
VAR_000335
Natural variant2131A → P in VLCAD deficiency.
VAR_010101
Natural variant2181E → K in VLCAD deficiency.
VAR_000336
Natural variant2431L → R in VLCAD deficiency.
VAR_000337
Natural variant2471K → E in VLCAD deficiency.
VAR_010102
Natural variant2471K → T in VLCAD deficiency.
VAR_000338
Natural variant2601T → M in VLCAD deficiency.
VAR_000339
Natural variant2781Missing in VLCAD deficiency.
VAR_000340
Natural variant2811A → D in VLCAD deficiency.
VAR_000341
Natural variant2831V → A in VLCAD deficiency.
VAR_000342
Natural variant2901G → D in VLCAD deficiency.
VAR_000343
Natural variant2941G → E in VLCAD deficiency.
VAR_000344
Natural variant2991K → N in VLCAD deficiency.
VAR_000345
Natural variant2991Missing in VLCAD deficiency.
VAR_000346
Natural variant3171V → A in VLCAD deficiency.
VAR_000347
Natural variant3521M → V in VLCAD deficiency.
VAR_000348
Natural variant3591A → S: dbSNP rs1051701.
VAR_011990
Natural variant3661R → C in VLCAD deficiency.
VAR_000349
Natural variant3661R → H in VLCAD deficiency.
VAR_000350
Natural variant3811Missing in VLCAD deficiency.
VAR_000351
Natural variant3821K → Q in VLCAD deficiency.
VAR_000352
Natural variant4051D → H in VLCAD deficiency.
VAR_000353
Natural variant4411G → D in VLCAD deficiency. dbSNP rs2309689.
VAR_000354
Natural variant4501R → H in VLCAD deficiency.
VAR_000355
Natural variant4531R → Q in VLCAD deficiency.
VAR_000356
Natural variant4541D → N in VLCAD deficiency.
VAR_000357
Natural variant4561R → H in VLCAD deficiency.
VAR_000358
Natural variant4581F → L in VLCAD deficiency.
VAR_010103
Natural variant4591R → W in VLCAD deficiency.
VAR_000359
Natural variant4631G → E in VLCAD deficiency.
VAR_000360
Natural variant4691R → Q in VLCAD deficiency.
VAR_000361
Natural variant4691R → W in VLCAD deficiency.
VAR_000362
Natural variant4901A → P in VLCAD deficiency.
VAR_010104
Natural variant5021L → P in VLCAD deficiency.
VAR_000363
Natural variant5341E → K in VLCAD deficiency. dbSNP rs2230180.
VAR_010105
Natural variant6021L → I in VLCAD deficiency.
VAR_000364
Natural variant6131R → W in VLCAD deficiency.
VAR_000365
Natural variant6151R → Q in VLCAD deficiency.
VAR_010106
Natural variant6231S → F: dbSNP rs13383.
VAR_011991

Experimental info

Sequence conflict1931G → C in BAA29057. Ref.3

Secondary structure

............................................................................ 655
Helix Strand Turn

Details...