• Gene id: 35

Gene Summary

• Gene Symbol: ACADS   Gene   UCSC   Ensembl
• Aliases: ACAD3, SCAD
• Gene name: acyl-CoA dehydrogenase short chain
• Alternate names: short-chain specific acyl-CoA dehydrogenase, mitochondrial, acyl-CoA dehydrogenase, C-2 to C-3 short chain, acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain, butyryl-CoA dehydrogenase, epididymis secretory sperm binding protein, mitochondrial short-chain ,
• Gene location: 12q24.31 (120725825: 120740007)     Exons: 11     NC_000012.12
• Gene summary(Entrez): This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated w
• OMIM: 603852

SNPs

rs886039789

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

NC_000005.10   g.43615851C>G
NC_000005.10   g.43615851C>T
NC_000005.9   g.43615953C>G
NC_000005.9   g.43615953C>T
NG_032869.1   g.18163C>G
NG_032869.1   g.18163C>T
NM_182977.3   c.385C>G
NM_182977.3   c.385C>T
NM_182977.2   c.385C>G
NM_182977.2   c.385C>T
NM_012343.3   c.

rs397515395

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

NC_000019.10   g.55161685dup
NC_000019.9   g.55673053dup
NG_007866.2   g.1048dup
NG_032759.1   g.10038dup
NM_178837.4   c.762dup
NM_001256715.2   c.621dup
NM_001256715.1   c.621dup
NM_001256716.1   c.459dup
NM_001256714.1   c.825dup
NP_849159.2   p.Val255fs
NP_001243644  

rs387907152

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

NC_000019.10   g.55165427G>A
NC_000019.9   g.55676795G>A
NG_032759.1   g.6296C>T
NM_178837.4   c.406C>T
NM_001256715.2   c.265C>T
NM_001256715.1   c.265C>T
NM_001256716.1   c.103C>T
NM_001256714.1   c.469C>T
NP_849159.2   p.Arg136Ter
NP_001243644.1   p.Arg89Ter
NP_00124  

rs387907151

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

NC_000019.10   g.55165904A>G
NC_000019.9   g.55677272A>G
NG_032759.1   g.5819T>C
NM_178837.4   c.323T>C
NM_001256715.2   c.182T>C
NM_001256715.1   c.182T>C
NM_001256716.1   c.-57T>C
NM_001256714.1   c.386T>C
NP_849159.2   p.Leu108Pro
NP_001243644.1   p.Leu61Pro
NP_00124  

rs387907021

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

NC_000014.9   g.73689432A>G
NC_000014.8   g.74156135A>G
NG_028083.2   g.49558A>G
NG_028083.1   g.49558A>G
NM_031427.4   c.449A>G
NM_031427.3   c.449A>G
NM_001201366.1   c.332A>G
NM_001201366.2   c.332A>G
XM_017021679.2   c.332A>G
XM_024449715.1   c.332A>G
NP_113615.2   p.

rs61752561

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

NC_000019.10   g.50858126G>A
NC_000019.9   g.51361382G>A
NG_011653.1   g.8212G>A
NM_001648.2   c.304G>A
NM_001030047.1   c.304G>A
NP_001639.1   p.Asp102Asn
NP_001025218.1   p.Asp102Asn|SEQ=[G/A]|GENE=KLK3

rs61736309

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

NC_000019.10   g.50860022G>A
NC_000019.10   g.50860022G>T
NC_000019.9   g.51363278G>A
NC_000019.9   g.51363278G>T
NG_011653.1   g.10108G>A
NG_011653.1   g.10108G>T
NM_001648.2   c.681G>A
NM_001648.2   c.681G>T
NM_001030047.1   c.*406G>A
NM_001030047.1   c.*406G>T
NM_001  

rs45588133

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

NC_000019.10   g.50859699G>A
NC_000019.9   g.51362955G>A
NG_011653.1   g.9785G>A
NM_001030047.1   c.*83G>A|SEQ=[G/A]|GENE=KLK3

rs35192866

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

NC_000019.10   g.50859547C>T
NC_000019.9   g.51362803C>T
NG_011653.1   g.9633C>T
NM_001030047.1   c.648C>T|SEQ=[C/T]|GENE=KLK3

rs17632542

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

NC_000019.10   g.50858501T>C
NC_000019.9   g.51361757T>C
NG_011653.1   g.8587T>C
NM_001648.2   c.536T>C
NM_001030047.1   c.536T>C
NM_001030048.1   c.407T>C
NP_001639.1   p.Ile179Thr
NP_001025218.1   p.Ile179Thr
NP_001025219.1   p.Ile136Thr|SEQ=[T/C]|GENE=KLK3

rs10841496

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

NC_000012.12   g.20368720C>A
NC_000012.11   g.20521654C>A
NG_030033.1   g.4476C>A
NM_000921.5   c.-565C>A
NM_001378408.1   c.-1593C>A
NM_001378407.1   c.-565C>A|SEQ=[C/A]|GENE=PDE3A

rs2287498

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

NC_000017.11   g.7689242C>T
NC_000017.10   g.7592560C>T
NG_017013.2   g.3309G>A
NG_028245.1   g.8172C>T
NM_018081.2   c.450C>T
NM_001143991.2   c.450C>T
NM_001143991.1   c.450C>T
NM_001143992.2   c.450C>T
NM_001143992.1   c.450C>T
NM_001143990.1   c.450C>T
XR_001752551.  

rs2057951

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

NC_000022.11   g.31334059A>G
NC_000022.10   g.31730045A>G|SEQ=[A/G]|GENE=PATZ1
PIK3IP1-DT   101929760

rs2053087

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

NC_000019.10   g.50856460G>A
NC_000019.9   g.51359716G>A
NG_011653.1   g.6546G>A|SEQ=[G/A]|GENE=KLK3

rs2003783

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

NC_000019.10   g.50858216C>A
NC_000019.10   g.50858216C>T
NC_000019.9   g.51361472C>A
NC_000019.9   g.51361472C>T
NG_011653.1   g.8302C>A
NG_011653.1   g.8302C>T
NM_001648.2   c.394C>A
NM_001648.2   c.394C>T
NM_001030047.1   c.394C>A
NM_001030047.1   c.394C>T
NM_0010300  

rs1810020

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

NC_000019.10   g.50858388A>G
NC_000019.10   g.50858388A>T
NC_000019.9   g.51361644A>G
NC_000019.9   g.51361644A>T
NG_011653.1   g.8474A>G
NG_011653.1   g.8474A>T|SEQ=[A/G/T]|GENE=KLK3

rs763110

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

NC_000001.11   g.172658358C>T
NC_000001.10   g.172627498C>T
NG_007269.1   g.4314C>T|SEQ=[C/T]|GENE=FASLG

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  

rs266881

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

NC_000019.10   g.50855077C>A
NC_000019.10   g.50855077C>G
NC_000019.9   g.51358333C>A
NC_000019.9   g.51358333C>G
NG_011653.1   g.5163C>A
NG_011653.1   g.5163C>G|SEQ=[C/A/G]|GENE=KLK3

rs266875

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

NC_000019.10   g.50858681G>A
NC_000019.10   g.50858681G>C
NC_000019.9   g.51361937G>A
NC_000019.9   g.51361937G>C
NG_011653.1   g.8767G>A
NG_011653.1   g.8767G>C|SEQ=[G/A/C]|GENE=KLK3

rs174776

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

NC_000019.10   g.50856596T>C
NC_000019.9   g.51359852T>C
NG_011653.1   g.6682T>C|SEQ=[T/C]|GENE=KLK3

rs11573

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

NC_000019.10   g.50856241T>C
NC_000019.9   g.51359497T>C
NG_011653.1   g.6327T>C
NM_001648.2   c.48T>C
NM_001030047.1   c.48T>C
NM_001030048.1   c.48T>C|SEQ=[T/C]|GENE=KLK3

rs6998

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

NC_000019.10   g.50860405G>A
NC_000019.9   g.51363661G>A
NG_011653.1   g.10491G>A
NM_001648.2   c.*278G>A
NM_001030047.1   c.*789G>A
NM_001030048.1   c.*278G>A|SEQ=[G/A]|GENE=KLK3

rs1727130

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

NC_000007.14   g.100213841C>A
NC_000007.14   g.100213841C>G
NC_000007.14   g.100213841C>T
NC_000007.13   g.99811464C>A
NC_000007.13   g.99811464C>G
NC_000007.13   g.99811464C>T
NG_034114.1   g.41118C>A
NG_034114.1   g.41118C>G
NG_034114.1   g.41118C>T|SEQ=[C/A/G/T]|GE

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

rs2267437

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

NC_000022.11   g.41620695C>A
NC_000022.11   g.41620695C>G
NC_000022.10   g.42016699C>A
NC_000022.10   g.42016699C>G|SEQ=[C/A/G]|GENE=XRCC6
DESI1   27351

rs10822184

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

NC_000010.11   g.63577393T>C
NC_000010.11   g.63577393T>G
NC_000010.10   g.65337153T>C
NC_000010.10   g.65337153T>G|SEQ=[T/C/G]|GENE=REEP3

rs139884

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

NC_000022.11   g.37973969A>G
NC_000022.10   g.38369976A>G
NG_007948.1   g.15564T>C
NM_006941.4   c.927T>C
NM_006941.3   c.927T>C|SEQ=[A/G]|GENE=POLR2F
SOX10   6663

rs1800682

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

NC_000010.11   g.88990206A>G
NC_000010.10   g.90749963A>G
NG_009089.2   g.4676A>G
NG_011541.1   g.6185T>C|SEQ=[A/G]|GENE=ACTA2
FAS   355

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: P16219  
  • Name: Short chain specific acyl CoA dehydrogenase, mitochondrial (SCAD) (EC 1.3.8.1) (Butyryl CoA dehydrogenase)
  • Length: 412  
  • Mass: 44297
• Sequence:

  MAAALLARASGPARRALCPRAWRQLHTIYQSVELPETHQMLLQTCRDFAEKELFPIAAQVDKEHLFPAAQVKKMG
  GLGLLAMDVPEELGGAGLDYLAYAIAMEEISRGCASTGVIMSVNNSLYLGPILKFGSKEQKQAWVTPFTSGDKIG
  CFALSEPGNGSDAGAASTTARAEGDSWVLNGTKAWITNAWEASAAVVFASTDRALQNKGISAFLVPMPTPGLTLG
  KKEDKLGIRGSSTANLIFEDCRIPKDSILGEPGMGFKIAMQTLDMGRIGIASQALGIAQTALDCAVNYAENRMAF
  GAPLTKLQVIQFKLADMALALESARLLTWRAAMLKDNKKPFIKEAAMAKLAASEAATAISHQAIQILGGMGYVTE
  MPAERHYRDARITEIYEGTSEIQRLVIAGHLLRSYRS

• Structural information:
  • Interpro: IPR006089  IPR006091  IPR036250  IPR009075  IPR013786   IPR037069  IPR009100  
  • Prosite: PS00072 PS00073
  • PDB: 2VIG
  • PDBsum: 2VIG
  • STRING: ENSP00000242592
• Other Databases: GeneCards:  ACADS  Malacards:  ACADS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004085	butyryl-CoA dehydrogenase activity	IBA	molecular function
GO:0046359	butyrate catabolic process	IBA	biological process
GO:0006635	fatty acid beta-oxidation	IC	biological process
GO:0003995	acyl-CoA dehydrogenase activity	IMP	molecular function
GO:0004085	butyryl-CoA dehydrogenase activity	ISS	molecular function
GO:0003995	acyl-CoA dehydrogenase activity	ISS	molecular function
GO:0005759	mitochondrial matrix	ISS	cellular component
GO:0003995	acyl-CoA dehydrogenase activity	IEA	molecular function
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:0006631	fatty acid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0003995	acyl-CoA dehydrogenase activity	TAS	molecular function
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0004085	butyryl-CoA dehydrogenase activity	IEA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
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:0003995	acyl-CoA dehydrogenase activity	IDA	molecular function
GO:0033539	fatty acid beta-oxidation using acyl-CoA dehydrogenase	IDA	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005634	nucleus	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa01212	Fatty acid metabolism
hsa00280	Valine, leucine and isoleucine degradation
hsa00071	Fatty acid degradation
hsa00410	beta-Alanine metabolism
hsa00640	Propanoate metabolism
hsa00650	Butanoate metabolism

Diseases

Associated diseases	References
Disorders of mitochondrial fatty-acid oxidation	KEGG:H00525
SCAD deficiency	KEGG:H01980
Disorders of mitochondrial fatty-acid oxidation	KEGG:H00525
SCAD deficiency	KEGG:H01980
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray