• Gene id: 26275

Gene Summary

• Gene Symbol: HIBCH   Gene   UCSC   Ensembl
• Aliases: HIBYLCOAH
• Gene name: 3-hydroxyisobutyryl-CoA hydrolase
• Alternate names: 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial, 3-hydroxyisobutyryl-Coenzyme A hydrolase, HIB-CoA hydrolase, HIBYL-CoA-H, testicular tissue protein Li 86,
• Gene location: 2q32.2 (37848867: 37889406)     Exons: 13     NC_000022.11
• Gene summary(Entrez): This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript vari
• OMIM: 610690

Protein Summary

• Protein general information: Q6NVY1  
  • Name: 3 hydroxyisobutyryl CoA hydrolase, mitochondrial (EC 3.1.2.4) (3 hydroxyisobutyryl coenzyme A hydrolase) (HIB CoA hydrolase) (HIBYL CoA H)
  • Length: 386  
  • Mass: 43482
  • Tissue specificity: Highly expressed in liver and kidney, also detected in heart, muscle and brain (at protein level). Not detected in lung. {ECO
• Sequence:

  MGQREMWRLMSRFNAFKRTNTILHHLRMSKHTDAAEEVLLEKKGCTGVITLNRPKFLNALTLNMIRQIYPQLKKW
  EQDPETFLIIIKGAGGKAFCAGGDIRVISEAEKAKQKIAPVFFREEYMLNNAVGSCQKPYVALIHGITMGGGVGL
  SVHGQFRVATEKCLFAMPETAIGLFPDVGGGYFLPRLQGKLGYFLALTGFRLKGRDVYRAGIATHFVDSEKLAML
  EEDLLALKSPSKENIASVLENYHTESKIDRDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVIN
  KMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRAVLIDKDQSPKWKPADLKEVTEEDLNNH
  FKSLGSSDLKF

• Structural information:
  • Interpro: IPR029045  IPR032259  
  • PDB: 3BPT
  • PDBsum: 3BPT
  • STRING: ENSP00000352706
• Other Databases: GeneCards:  HIBCH  Malacards:  HIBCH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006574	valine catabolic process	IBA	biological process
GO:0003860	3-hydroxyisobutyryl-CoA hydrolase activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0003860	3-hydroxyisobutyryl-CoA hydrolase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0009083	branched-chain amino acid catabolic process	IEA	biological process
GO:0003860	3-hydroxyisobutyryl-CoA hydrolase activity	IEA	molecular function
GO:0003860	3-hydroxyisobutyryl-CoA hydrolase activity	EXP	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:0006574	valine catabolic process	IEA	biological process
GO:0003860	3-hydroxyisobutyryl-CoA hydrolase activity	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa00280	Valine, leucine and isoleucine degradation
hsa00410	beta-Alanine metabolism
hsa00640	Propanoate metabolism

Diseases

Associated diseases	References
Methacrylic aciduria	KEGG:H01349
Methacrylic aciduria	KEGG:H01349
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq