• Gene id: 549

Gene Summary

• Gene Symbol: AUH   Gene   UCSC   Ensembl
• Gene name: AU RNA binding methylglutaconyl-CoA hydratase
• Alternate names: methylglutaconyl-CoA hydratase, mitochondrial, 3-methylglutaconyl-CoA hydratase, AU RNA binding protein/enoyl-CoA hydratase, AU RNA-binding protein/enoyl-Coenzyme A hydratase, AU-binding protein/Enoyl-CoA hydratase, AU-specific RNA-binding enoyl-CoA hydratase, ,
• Gene location: 9q22.31 (36281593: 36347510)     Exons: 13     NC_000004.12
• Gene summary(Entrez): This gene encodes bifunctional mitochondrial protein that has both RNA-binding and hydratase activities. The encoded protein is a methylglutaconyl-CoA hydratase that catalyzes the hydration of 3-methylglutaconyl-CoA to 3-hydroxy-3-methyl-glutaryl-CoA, a c
• OMIM: 600529

SNPs

rs397514561

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

NC_000007.14   g.780097T>C
NC_000007.13   g.819734T>C
NG_033137.1   g.58397T>C
NM_017802.4   c.2384T>C
NM_017802.3   c.2384T>C
NR_075098.1   n.2342T>C
XM_024446814.1   c.1778T>C
NP_060272.3   p.Leu795Pro
XP_024302582.1   p.Leu593Pro|SEQ=[T/C]|GENE=DNAAF5

rs6563386

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

NC_000013.11   g.36202894C>A
NC_000013.11   g.36202894C>G
NC_000013.11   g.36202894C>T
NC_000013.10   g.36777031C>A
NC_000013.10   g.36777031C>G
NC_000013.10   g.36777031C>T
NG_033786.1   g.16722G>T
NG_033786.1   g.16722G>C
NG_033786.1   g.16722G>A|SEQ=[C/A/G/T]|GENE=

rs4045481

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

NC_000004.12   g.1096837G>A
NC_000004.11   g.1090625G>A
NG_027812.2   g.21958C>T
NG_027812.1   g.21728C>T
NM_001131034.4   c.174C>T
NM_001131034.3   c.174C>T
NM_194439.4   c.174C>T
NM_001193318.3   c.174C>T
NM_001193318.2   c.174C>T
NR_159501.1   n.486C>T
NR_159498.1   n.

rs1328641

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

NC_000013.11   g.36170892C>T
NC_000013.10   g.36745029C>T
NG_033786.1   g.48724G>A|SEQ=[C/T]|GENE=SOHLH2
CCDC169-SOHLH2   100526761

rs1328626

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

NC_000013.11   g.36204635C>A
NC_000013.10   g.36778772C>A
NG_033786.1   g.14981G>T|SEQ=[C/A]|GENE=SOHLH2
CCDC169-SOHLH2   100526761

Protein Summary

• Protein general information: Q13825  
  • Name: Methylglutaconyl CoA hydratase, mitochondrial (EC 4.2.1.18) (AU specific RNA binding enoyl CoA hydratase) (AU binding protein/enoyl CoA hydratase) (Itaconyl CoA hydratase) (EC 4.2.1.56)
  • Length: 339  
  • Mass: 35609
• Sequence:

  MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTED
  ELRVRHLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMS
  SSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLP
  RAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQGPVAMRVAKLAINQGMEVD
  LVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE

• Structural information:
  • Interpro: IPR029045  IPR018376  IPR001753  IPR014748  
  • Prosite: PS00166
  • PDB: 1HZD 2ZQQ 2ZQR
  • PDBsum: 1HZD 2ZQQ 2ZQR
  • STRING: ENSP00000364883
• Other Databases: GeneCards:  AUH  Malacards:  AUH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006635	fatty acid beta-oxidation	IBA	biological process
GO:0004300	enoyl-CoA hydratase activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0003824	catalytic activity	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0009083	branched-chain amino acid catabolic process	IEA	biological process
GO:0004490	methylglutaconyl-CoA hydratase activity	IEA	molecular function
GO:0050011	itaconyl-CoA hydratase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0009083	branched-chain amino acid catabolic process	TAS	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0006552	leucine catabolic process	IEA	biological process
GO:0003730	mRNA 3'-UTR binding	IDA	molecular function
GO:0004300	enoyl-CoA hydratase activity	IDA	molecular function
GO:0005739	mitochondrion	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00280	Valine, leucine and isoleucine degradation

Diseases

Associated diseases	References
3-Methylglutaconic aciduria	KEGG:H00754
3-Methylglutaconic aciduria	KEGG:H00754
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881