• Gene id: 33

Gene Summary

• Gene Symbol: ACADL   Gene   UCSC   Ensembl
• Aliases: ACAD4, LCAD
• Gene name: acyl-CoA dehydrogenase long chain
• Alternate names: long-chain specific acyl-CoA dehydrogenase, mitochondrial, acyl-Coenzyme A dehydrogenase, long chain,
• Gene location: 2q34 (210225446: 210187922)     Exons: 12     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four enzymes that catalyze the initi
• OMIM: 609576

SNPs

rs606231461

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000015.10   g.51481268_51481282del
NC_000015.9   g.51773465_51773479del
NG_017155.1   g.146492_146506del
NM_015263.3   c.5827_5841del
NM_015263.4   c.5827_5841del
NM_001174116.1   c.5827_5841del
NM_001174116.2   c.5827_5841del
NM_001174117.1   c.3919_3933del
NM_0  

rs397515392

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.180661860C>G
NC_000003.11   g.180379648C>G
NG_029581.1   g.22636G>C|SEQ=[C/G]|GENE=CCDC39

rs17840762

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.125241708G>A
NC_000009.11   g.128003987G>A
NG_027761.1   g.4680C>T
NG_063123.1   g.439G>A
XR_001746927.1   n.46G>A|SEQ=[G/A]|GENE=HSPA5
LOC107987127   107987127

rs17840761

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.125241700G>A
NC_000009.11   g.128003979G>A
NG_027761.1   g.4688C>T
NG_063123.1   g.431G>A
XR_001746927.1   n.38G>A|SEQ=[G/A]|GENE=HSPA5
LOC107987127   107987127

rs16927997

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.125236118A>G
NC_000009.11   g.127998397A>G
NG_027761.1   g.10270T>C
NM_005347.5   c.*474T>C
NM_005347.4   c.*474T>C|SEQ=[A/G]|GENE=HSPA5

rs16895863

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.42603608A>T
NC_000006.11   g.42571346A>T
XM_005248966.3   c.-1554A>T
XR_001743284.2   n.1051A>T
XM_011514438.2   c.633A>T
NM_015255.2   c.552A>T
XM_017010595.1   c.633A>T
XM_017010596.1   c.552A>T
NM_001363705.1   c.552A>T
XM_017010594.1   c.633A>T
XR_0  

rs3749897

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.42564364C>G
NC_000006.12   g.42564364C>T
NC_000006.11   g.42532102C>G
NC_000006.11   g.42532102C>T
XR_001743284.2   n.410C>G
XR_001743284.2   n.410C>T
XM_011514438.2   c.-9C>G
XM_011514438.2   c.-9C>T
NM_015255.2   c.45C>G
NM_015255.2   c.45C>T
XM_01701  

rs3741843

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.10938833C>A
NC_000012.12   g.10938833C>G
NC_000012.12   g.10938833C>T
NC_000012.11   g.11091432C>A
NC_000012.11   g.11091432C>G
NC_000012.11   g.11091432C>T
NT_187658.1   g.137539C>A
NT_187658.1   g.137539C>G
NT_187658.1   g.137539C>T
NW_003571050.1   g

rs3216733

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000009.12   g.125241516_125241517del
NC_000009.12   g.125241517del
NC_000009.12   g.125241517dup
NC_000009.12   g.125241516_125241517dup
NC_000009.11   g.128003795_128003796del
NC_000009.11   g.128003796del
NC_000009.11   g.128003796dup
NC_000009.11   g.128003795

rs2227956

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31810495G>A
NC_000006.12   g.31810495G>C
NC_000006.12   g.31810495G>T
NC_000006.11   g.31778272G>A
NC_000006.11   g.31778272G>C
NC_000006.11   g.31778272G>T
NG_011855.1   g.9564C>T
NG_011855.1   g.9564C>G
NG_011855.1   g.9564C>A
NM_005527.4   c.1478C>T
  

rs1061581

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31816809G>A
NC_000006.11   g.31784586G>A
NG_011855.1   g.3250C>T
NT_113891.3   g.3294060G>A
NT_113891.2   g.3294166G>A
NT_167245.2   g.3064588G>A
NT_167245.1   g.3070173G>A
NT_167244.2   g.3149431G>A
NT_167244.1   g.3099347G>A
NT_167248.2   g.3072637G>A

rs759992

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4788494A>C
NC_000016.10   g.4788494A>G
NC_000016.9   g.4838495A>C
NC_000016.9   g.4838495A>G
NG_030315.1   g.5028T>G
NG_030315.1   g.5028T>C
NM_144605.4   c.-237T>G
NM_144605.4   c.-237T>C
NM_001154458.2   c.-237T>G
NM_001154458.2   c.-237T>C
XM_0115225  

rs373341

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.42691014T>C
NC_000006.12   g.42691014T>G
NC_000006.11   g.42658752T>C
NC_000006.11   g.42658752T>G|SEQ=[T/C/G]|GENE=UBR2

rs7354779

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.44250887T>C
NC_000021.8   g.45670770T>C
NM_013369.3   c.832A>G
NM_013369.4   c.832A>G
NM_175867.2   c.832A>G
NM_175867.3   c.832A>G
NR_135514.1   n.75T>C
NP_037501.2   p.Arg278Gly
NP_787063.1   p.Arg278Gly|SEQ=[T/C]|GENE=DNMT3L
DNMT3L-AS1   1053728

rs11749327

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.457146C>A
NC_000005.9   g.457261C>A|SEQ=[C/A]|GENE=EXOC3

rs3827527

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4788322G>A
NC_000016.9   g.4838323G>A
NG_030315.1   g.5200C>T
NM_144605.5   c.-65C>T
NM_144605.4   c.-65C>T
NM_001154458.3   c.-65C>T
NM_001154458.2   c.-65C>T
XM_011522379.3   c.-268C>T|SEQ=[G/A]|GENE=SEPTIN12
SMIM22   440335

rs5498

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.10285007A>G
NC_000019.9   g.10395683A>G
NG_012083.1   g.19167A>G
NM_000201.3   c.1405A>G
NM_000201.2   c.1405A>G
NG_007728.1   g.3034A>G
NP_000192.2   p.Lys469Glu|SEQ=[A/G]|GENE=ICAM1
ICAM4   3386

rs1422627

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.45913480C>G
NC_000019.10   g.45913480C>T
NC_000019.9   g.46416738C>G
NC_000019.9   g.46416738C>T
NM_001029861.2   c.*797G>C
NM_001029861.2   c.*797G>A
NM_001029861.3   c.*797G>C
NM_001029861.3   c.*797G>A|SEQ=[C/G/T]|GENE=NANOS2

rs9304651

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.45916515A>G
NC_000019.9   g.46419773A>G|SEQ=[A/G]|GENE=NANOS2

rs2015728

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.45915628G>A
NC_000019.10   g.45915628G>T
NC_000019.9   g.46418886G>A
NC_000019.9   g.46418886G>T|SEQ=[G/A/T]|GENE=NANOS2

rs6313

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.46895805G>A
NC_000013.11   g.46895805G>C
NC_000013.10   g.47469940G>A
NC_000013.10   g.47469940G>C
NG_013011.1   g.6230C>T
NG_013011.1   g.6230C>G
NM_000621.5   c.102C>T
NM_000621.5   c.102C>G
NM_000621.4   c.102C>T
NM_000621.4   c.102C>G
NM_001378924.1  

rs1164594027

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4787507C>T
NC_000016.9   g.4837508C>T
NG_030315.1   g.6015G>A
NM_144605.5   c.139G>A
NM_144605.4   c.139G>A
NM_001154458.3   c.139G>A
NM_001154458.2   c.139G>A
XM_011522379.3   c.-65G>A
XM_006720846.2   c.139G>A
XM_024450155.1   c.139G>A
NP_653206.2   p.G

rs1384271239

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4787501C>G
NC_000016.9   g.4837502C>G
NG_030315.1   g.6021G>C
NM_144605.5   c.145G>C
NM_144605.4   c.145G>C
NM_001154458.3   c.145G>C
NM_001154458.2   c.145G>C
XM_011522379.3   c.-59G>C
XM_006720846.2   c.145G>C
XM_024450155.1   c.145G>C
NP_653206.2   p.G

Protein Summary

• Protein general information: P28330  
  • Name: Long chain specific acyl CoA dehydrogenase, mitochondrial (LCAD) (EC 1.3.8.8)
  • Length: 430  
  • Mass: 47656
• Sequence:

  MAARLLRGSLRVLGGHRAPRQLPAARCSHSGGEERLETPSAKKLTDIGIRRIFSPEHDIFRKSVRKFFQEEVIPH
  HSEWEKAGEVSREVWEKAGKQGLLGVNIAEHLGGIGGDLYSAAIVWEEQAYSNCSGPGFSIHSGIVMSYITNHGS
  EEQIKHFIPQMTAGKCIGAIAMTEPGAGSDLQGIKTNAKKDGSDWILNGSKVFISNGSLSDVVIVVAVTNHEAPS
  PAHGISLFLVENGMKGFIKGRKLHKMGLKAQDTAELFFEDIRLPASALLGEENKGFYYIMKELPQERLLIADVAI
  SASEFMFEETRNYVKQRKAFGKTVAHLQTVQHKLAELKTHICVTRAFVDNCLQLHEAKRLDSATACMAKYWASEL
  QNSVAYDCVQLHGGWGYMWEYPIAKAYVDARVQPIYGGTNEIMKELIAREIVFDK

• Structural information:
  • Interpro: IPR006089  IPR006091  IPR036250  IPR009075  IPR013786   IPR037069  IPR009100  IPR034179  
  • Prosite: PS00072 PS00073
  • CDD: cd01160
  • STRING: ENSP00000233710
• Other Databases: GeneCards:  ACADL  Malacards:  ACADL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003995	acyl-CoA dehydrogenase activity	IBA	molecular function
GO:0004466	long-chain-acyl-CoA dehydrogenase activity	IBA	molecular function
GO:0033539	fatty acid beta-oxidation using acyl-CoA dehydrogenase	IBA	biological process
GO:0042758	long-chain fatty acid catabolic process	IBA	biological process
GO:0050660	flavin adenine dinucleotide binding	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0016401	palmitoyl-CoA oxidase activity	IBA	molecular function
GO:0019254	carnitine metabolic process, CoA-linked	IBA	biological process
GO:0003995	acyl-CoA dehydrogenase activity	IEA	molecular function
GO:0004466	long-chain-acyl-CoA dehydrogenase activity	IEA	molecular function
GO:0042758	long-chain fatty acid catabolic process	IEA	biological process
GO:0050660	flavin adenine dinucleotide binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016627	oxidoreductase activity, acting on the CH-CH group of donors	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0004466	long-chain-acyl-CoA dehydrogenase activity	TAS	molecular function
GO:0004466	long-chain-acyl-CoA dehydrogenase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0050660	flavin adenine dinucleotide binding	IEA	molecular function
GO:0042758	long-chain fatty acid catabolic process	IEA	biological process
GO:0033539	fatty acid beta-oxidation using acyl-CoA dehydrogenase	IEA	biological process
GO:0004466	long-chain-acyl-CoA dehydrogenase activity	IEA	molecular function
GO:0000062	fatty-acyl-CoA binding	IEA	molecular function
GO:0042802	identical protein binding	IEA	molecular function
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0004466	long-chain-acyl-CoA dehydrogenase activity	ISS	molecular function
GO:0016401	palmitoyl-CoA oxidase activity	ISS	molecular function
GO:0033539	fatty acid beta-oxidation using acyl-CoA dehydrogenase	ISS	biological process
GO:0044242	cellular lipid catabolic process	ISS	biological process
GO:0045717	negative regulation of fatty acid biosynthetic process	ISS	biological process
GO:0055114	oxidation-reduction process	ISS	biological process
GO:0090181	regulation of cholesterol metabolic process	ISS	biological process
GO:0001659	temperature homeostasis	ISS	biological process
GO:0019254	carnitine metabolic process, CoA-linked	ISS	biological process
GO:0042413	carnitine catabolic process	ISS	biological process
GO:0046322	negative regulation of fatty acid oxidation	ISS	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa03320	PPAR signaling pathway
hsa01212	Fatty acid metabolism
hsa00071	Fatty acid degradation

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R