• Gene id: 3032

Gene Summary

• Gene Symbol: HADHB   Gene   UCSC   Ensembl
• Aliases: ECHB, MSTP029, MTPB, TP-BETA
• Gene name: hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
• Alternate names: trifunctional enzyme subunit beta, mitochondrial, 2-enoyl-Coenzyme A (CoA) hydratase, beta subunit, 3-ketoacyl-Coenzyme A (CoA) thiolase of mitochondrial trifunctional protein, beta subunit, acetyl-CoA acyltransferase, beta-ketothiolase, hydroxyacyl-CoA dehydr,
• Gene location: 2p23.3 (6470676: 6462236)     Exons: 5     NC_000012.12
• Gene summary(Entrez): This gene encodes the beta subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and fou
• OMIM: 143450

Protein Summary

• Protein general information: P55084  
  • Name: Trifunctional enzyme subunit beta, mitochondrial (TP beta) [Includes: 3 ketoacyl CoA thiolase (EC 2.3.1.155) (EC 2.3.1.16) (Acetyl CoA acyltransferase) (Beta ketothiolase)]
  • Length: 474  
  • Mass: 51294
• Sequence:

  MTILTYPFKNLPTASKWALRFSIRPLSCSSQLRAAPAVQTKTKKTLAKPNIRNVVVVDGVRTPFLLSGTSYKDLM
  PHDLARAALTGLLHRTSVPKEVVDYIIFGTVIQEVKTSNVAREAALGAGFSDKTPAHTVTMACISANQAMTTGVG
  LIASGQCDVIVAGGVELMSDVPIRHSRKMRKLMLDLNKAKSMGQRLSLISKFRFNFLAPELPAVSEFSTSETMGH
  SADRLAAAFAVSRLEQDEYALRSHSLAKKAQDEGLLSDVVPFKVPGKDTVTKDNGIRPSSLEQMAKLKPAFIKPY
  GTVTAANSSFLTDGASAMLIMAEEKALAMGYKPKAYLRDFMYVSQDPKDQLLLGPTYATPKVLEKAGLTMNDIDA
  FEFHEAFSGQILANFKAMDSDWFAENYMGRKTKVGLPPLEKFNNWGGSLSLGHPFGATGCRLVMAAANRLRKEGG
  QYGLVAACAAGGQGHAMIVEAYPK

• Structural information:
  • Interpro: IPR002155  IPR016039  IPR020615  IPR020610  IPR020617   IPR020613  IPR020616  
  • Prosite: PS00098 PS00737 PS00099
  • CDD: cd00751
  • PDB: 5ZQZ 5ZRV 6DV2
  • PDBsum: 5ZQZ 5ZRV 6DV2
  • STRING: ENSP00000325136
• Other Databases: GeneCards:  HADHB  Malacards:  HADHB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006635	fatty acid beta-oxidation	IBA	biological process
GO:0003988	acetyl-CoA C-acyltransferase activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0005741	mitochondrial outer membrane	IDA	cellular component
GO:0005739	mitochondrion	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016747	transferase activity, transferring acyl groups other than amino-acyl groups	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	TAS	molecular function
GO:0004300	enoyl-CoA hydratase activity	TAS	molecular function
GO:0003988	acetyl-CoA C-acyltransferase activity	TAS	molecular function
GO:0005740	mitochondrial envelope	TAS	cellular component
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0003988	acetyl-CoA C-acyltransferase activity	IEA	molecular function
GO:0050633	acetyl-CoA C-myristoyltransferase activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0035965	cardiolipin acyl-chain remodeling	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003988	acetyl-CoA C-acyltransferase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0006635	fatty acid beta-oxidation	IEA	biological process
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01212	Fatty acid metabolism
hsa00280	Valine, leucine and isoleucine degradation
hsa00071	Fatty acid degradation
hsa00062	Fatty acid elongation

Diseases

Associated diseases	References
Disorders of mitochondrial fatty-acid oxidation	KEGG:H00525
Mitochondrial trifunctional protein deficiency	KEGG:H01352
Disorders of mitochondrial fatty-acid oxidation	KEGG:H00525
Mitochondrial trifunctional protein deficiency	KEGG:H01352
Alzheimer's disease	PMID:11430884
mitochondrial metabolism disease	PMID:8651282
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)