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Protein

Trifunctional enzyme subunit beta, mitochondrial

Gene

HADHB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalytic activityi

Acyl-CoA + acetyl-CoA = CoA + 3-oxoacyl-CoA.1 Publication

Pathwayi: fatty acid beta-oxidation

This protein is involved in the pathway fatty acid beta-oxidation, which is part of Lipid metabolism.
View all proteins of this organism that are known to be involved in the pathway fatty acid beta-oxidation and in Lipid metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei138Acyl-thioester intermediateBy similarity1
Active sitei428Proton acceptorPROSITE-ProRule annotation1
Active sitei458Proton acceptorPROSITE-ProRule annotation1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionAcyltransferase, Transferase
Biological processFatty acid metabolism, Lipid metabolism

Enzyme and pathway databases

BioCyciMetaCyc:HS06436-MONOMER
ReactomeiR-HSA-1482798 Acyl chain remodeling of CL
R-HSA-77285 Beta oxidation of myristoyl-CoA to lauroyl-CoA
R-HSA-77288 mitochondrial fatty acid beta-oxidation of unsaturated fatty acids
R-HSA-77305 Beta oxidation of palmitoyl-CoA to myristoyl-CoA
R-HSA-77310 Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA
R-HSA-77346 Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA
R-HSA-77348 Beta oxidation of octanoyl-CoA to hexanoyl-CoA
R-HSA-77350 Beta oxidation of hexanoyl-CoA to butanoyl-CoA
UniPathwayi
UPA00659

Protein family/group databases

MoonProtiP55084

Names & Taxonomyi

Protein namesi
Recommended name:
Trifunctional enzyme subunit beta, mitochondrial
Alternative name(s):
TP-beta
Including the following 1 domains:
3-ketoacyl-CoA thiolase (EC:2.3.1.16)
Alternative name(s):
Acetyl-CoA acyltransferase
Beta-ketothiolase
Gene namesi
Name:HADHB
ORF Names:MSTP029
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000138029.13
HGNCiHGNC:4803 HADHB
MIMi143450 gene
neXtProtiNX_P55084

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Mitochondrion, Mitochondrion inner membrane, Mitochondrion outer membrane

Pathology & Biotechi

Involvement in diseasei

Mitochondrial trifunctional protein deficiency (MTPD)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease biochemically characterized by loss of all enzyme activities of the mitochondrial trifunctional protein complex. Variable clinical manifestations include hypoglycemia, cardiomyopathy, delayed psychomotor development, sensorimotor axonopathy, generalized weakness, hepatic dysfunction, respiratory failure. Sudden infant death may occur. Most patients die from heart failure.
See also OMIM:609015
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02112859G → D in MTPD. 1 Publication1
Natural variantiVAR_02112961R → C in MTPD. 1 PublicationCorresponds to variant dbSNP:rs780351691EnsemblClinVar.1
Natural variantiVAR_00749361R → H in MTPD. 2 PublicationsCorresponds to variant dbSNP:rs121913132EnsemblClinVar.1
Natural variantiVAR_021130117R → G in MTPD. 1 Publication1
Natural variantiVAR_021131121L → P in MTPD. 1 PublicationCorresponds to variant dbSNP:rs773127211Ensembl.1
Natural variantiVAR_021132133T → P in MTPD. 1 PublicationCorresponds to variant dbSNP:rs371159065Ensembl.1
Natural variantiVAR_021133242D → G in MTPD. 1 Publication1
Natural variantiVAR_007494247R → H in MTPD. 2 PublicationsCorresponds to variant dbSNP:rs121913133EnsemblClinVar.1
Natural variantiVAR_021134259 – 270Missing in MTPD. 1 PublicationAdd BLAST12
Natural variantiVAR_007495263D → G in MTPD. 2 PublicationsCorresponds to variant dbSNP:rs121913131EnsemblClinVar.1
Natural variantiVAR_021135280G → D in MTPD. 1 PublicationCorresponds to variant dbSNP:rs751772298Ensembl.1
Natural variantiVAR_021136294P → L in MTPD. 1 Publication1
Natural variantiVAR_021137294P → R in MTPD. 1 Publication1
Natural variantiVAR_021138301G → S in MTPD. 1 PublicationCorresponds to variant dbSNP:rs891954464Ensembl.1
Natural variantiVAR_017409444R → K in MTPD. 2 PublicationsCorresponds to variant dbSNP:rs121913134EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi3032
MalaCardsiHADHB
MIMi609015 phenotype
OpenTargetsiENSG00000138029
Orphaneti746 Mitochondrial trifunctional protein deficiency
PharmGKBiPA29177

Polymorphism and mutation databases

BioMutaiHADHB
DMDMi116241345

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 33MitochondrionCombined sources1 PublicationAdd BLAST33
ChainiPRO_000003408034 – 474Trifunctional enzyme subunit beta, mitochondrialAdd BLAST441

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei72N6-acetyllysine; alternateCombined sources1
Modified residuei72N6-succinyllysine; alternateBy similarity1
Modified residuei188N6-acetyllysine; alternateCombined sources1
Modified residuei188N6-succinyllysine; alternateBy similarity1
Modified residuei190N6-succinyllysineBy similarity1
Modified residuei272N6-succinyllysineBy similarity1
Modified residuei291N6-succinyllysineBy similarity1
Modified residuei293N6-acetyllysine; alternateBy similarity1
Modified residuei293N6-succinyllysine; alternateBy similarity1
Modified residuei298N6-acetyllysineBy similarity1
Modified residuei332N6-acetyllysine; alternateBy similarity1
Modified residuei332N6-succinyllysine; alternateBy similarity1
Modified residuei348N6-acetyllysineBy similarity1
Modified residuei361N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiP55084
MaxQBiP55084
PaxDbiP55084
PeptideAtlasiP55084
PRIDEiP55084
ProteomicsDBi56786

2D gel databases

UCD-2DPAGEiP55084

PTM databases

iPTMnetiP55084
PhosphoSitePlusiP55084
SwissPalmiP55084

Expressioni

Gene expression databases

BgeeiENSG00000138029 Expressed in 237 organ(s), highest expression level in heart right ventricle
CleanExiHS_HADHB
ExpressionAtlasiP55084 baseline and differential
GenevisibleiP55084 HS

Organism-specific databases

HPAiHPA037539
HPA037540
HPA066099

Interactioni

Subunit structurei

Octamer of 4 alpha (HADHA) and 4 beta (HADHB) subunits. Interacts with RSAD2/viperin.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
GABARAPL1Q9H0R84EBI-356635,EBI-746969

Protein-protein interaction databases

BioGridi109282, 91 interactors
IntActiP55084, 63 interactors
MINTiP55084
STRINGi9606.ENSP00000325136

Structurei

3D structure databases

ProteinModelPortaliP55084
SMRiP55084
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the thiolase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG1392 Eukaryota
COG0183 LUCA
GeneTreeiENSGT00910000144143
HOGENOMiHOG000012240
HOVERGENiHBG104782
InParanoidiP55084
KOiK07509
OMAiMTAFPEP
OrthoDBiEOG091G09R7
PhylomeDBiP55084
TreeFamiTF315243

Family and domain databases

CDDicd00751 thiolase, 1 hit
Gene3Di3.40.47.10, 1 hit
InterProiView protein in InterPro
IPR002155 Thiolase
IPR016039 Thiolase-like
IPR020615 Thiolase_acyl_enz_int_AS
IPR020610 Thiolase_AS
IPR020617 Thiolase_C
IPR020613 Thiolase_CS
IPR020616 Thiolase_N
PfamiView protein in Pfam
PF02803 Thiolase_C, 1 hit
PF00108 Thiolase_N, 1 hit
SUPFAMiSSF53901 SSF53901, 2 hits
TIGRFAMsiTIGR01930 AcCoA-C-Actrans, 1 hit
PROSITEiView protein in PROSITE
PS00098 THIOLASE_1, 1 hit
PS00737 THIOLASE_2, 1 hit
PS00099 THIOLASE_3, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P55084-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MTILTYPFKN LPTASKWALR FSIRPLSCSS QLRAAPAVQT KTKKTLAKPN
60 70 80 90 100
IRNVVVVDGV RTPFLLSGTS YKDLMPHDLA RAALTGLLHR TSVPKEVVDY
110 120 130 140 150
IIFGTVIQEV KTSNVAREAA LGAGFSDKTP AHTVTMACIS ANQAMTTGVG
160 170 180 190 200
LIASGQCDVI VAGGVELMSD VPIRHSRKMR KLMLDLNKAK SMGQRLSLIS
210 220 230 240 250
KFRFNFLAPE LPAVSEFSTS ETMGHSADRL AAAFAVSRLE QDEYALRSHS
260 270 280 290 300
LAKKAQDEGL LSDVVPFKVP GKDTVTKDNG IRPSSLEQMA KLKPAFIKPY
310 320 330 340 350
GTVTAANSSF LTDGASAMLI MAEEKALAMG YKPKAYLRDF MYVSQDPKDQ
360 370 380 390 400
LLLGPTYATP KVLEKAGLTM NDIDAFEFHE AFSGQILANF KAMDSDWFAE
410 420 430 440 450
NYMGRKTKVG LPPLEKFNNW GGSLSLGHPF GATGCRLVMA AANRLRKEGG
460 470
QYGLVAACAA GGQGHAMIVE AYPK
Length:474
Mass (Da):51,294
Last modified:October 17, 2006 - v3
Checksum:iA7B41C37BEC1E6AD
GO
Isoform 2 (identifier: P55084-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-36: MTILTYPFKNLPTASKWALRFSIRPLSCSSQLRAAP → MTLVSGWLLYGWII

Note: No experimental confirmation available.
Show »
Length:452
Mass (Da):48,880
Checksum:i3633B6AE6528FC78
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5GZQ3F5GZQ3_HUMAN
Trifunctional enzyme subunit beta, ...
HADHB
459Annotation score:
B5MD38B5MD38_HUMAN
Trifunctional enzyme subunit beta, ...
HADHB
351Annotation score:
C9JE81C9JE81_HUMAN
Trifunctional enzyme subunit beta, ...
HADHB
175Annotation score:
C9JEY0C9JEY0_HUMAN
Trifunctional enzyme subunit beta, ...
HADHB
149Annotation score:
C9K0M0C9K0M0_HUMAN
Trifunctional enzyme subunit beta, ...
HADHB
84Annotation score:

Sequence cautioni

The sequence BAA22061 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1M → MT in AAG39280 (Ref. 3) Curated1
Sequence conflicti1M → MT in AAH14572 (PubMed:15489334).Curated1
Sequence conflicti1M → MT in AAH17564 (PubMed:15489334).Curated1
Sequence conflicti1M → MT in AAH30824 (PubMed:15489334).Curated1
Sequence conflicti1M → MT in AAH66963 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02112859G → D in MTPD. 1 Publication1
Natural variantiVAR_02112961R → C in MTPD. 1 PublicationCorresponds to variant dbSNP:rs780351691EnsemblClinVar.1
Natural variantiVAR_00749361R → H in MTPD. 2 PublicationsCorresponds to variant dbSNP:rs121913132EnsemblClinVar.1
Natural variantiVAR_021130117R → G in MTPD. 1 Publication1
Natural variantiVAR_035705119A → V in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_021131121L → P in MTPD. 1 PublicationCorresponds to variant dbSNP:rs773127211Ensembl.1
Natural variantiVAR_021132133T → P in MTPD. 1 PublicationCorresponds to variant dbSNP:rs371159065Ensembl.1
Natural variantiVAR_028231209P → S1 PublicationCorresponds to variant dbSNP:rs17851200Ensembl.1
Natural variantiVAR_021133242D → G in MTPD. 1 Publication1
Natural variantiVAR_007494247R → H in MTPD. 2 PublicationsCorresponds to variant dbSNP:rs121913133EnsemblClinVar.1
Natural variantiVAR_021134259 – 270Missing in MTPD. 1 PublicationAdd BLAST12
Natural variantiVAR_007495263D → G in MTPD. 2 PublicationsCorresponds to variant dbSNP:rs121913131EnsemblClinVar.1
Natural variantiVAR_061897277K → R. Corresponds to variant dbSNP:rs57969630EnsemblClinVar.1
Natural variantiVAR_021135280G → D in MTPD. 1 PublicationCorresponds to variant dbSNP:rs751772298Ensembl.1
Natural variantiVAR_021136294P → L in MTPD. 1 Publication1
Natural variantiVAR_021137294P → R in MTPD. 1 Publication1
Natural variantiVAR_021138301G → S in MTPD. 1 PublicationCorresponds to variant dbSNP:rs891954464Ensembl.1
Natural variantiVAR_017409444R → K in MTPD. 2 PublicationsCorresponds to variant dbSNP:rs121913134EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0544261 – 36MTILT…LRAAP → MTLVSGWLLYGWII in isoform 2. 1 PublicationAdd BLAST36

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D16481 mRNA Translation: BAA03942.1
D86850 Genomic DNA Translation: BAA22061.1 Sequence problems.
AF113209 mRNA Translation: AAG39280.1
AK304455 mRNA Translation: BAG65272.1
AK314455 mRNA Translation: BAG37063.1
AC010896 Genomic DNA Translation: AAY14644.1
BC014572 mRNA Translation: AAH14572.1
BC017564 mRNA Translation: AAH17564.1
BC030824 mRNA Translation: AAH30824.1
BC066963 mRNA Translation: AAH66963.1
CCDSiCCDS1722.1 [P55084-1]
CCDS62872.1 [P55084-2]
PIRiJC2109
RefSeqiNP_000174.1, NM_000183.2 [P55084-1]
NP_001268441.1, NM_001281512.1
NP_001268442.1, NM_001281513.1 [P55084-2]
XP_011531105.1, XM_011532803.1 [P55084-1]
UniGeneiHs.515848

Genome annotation databases

EnsembliENST00000317799; ENSP00000325136; ENSG00000138029 [P55084-1]
ENST00000545822; ENSP00000442665; ENSG00000138029 [P55084-2]
GeneIDi3032
KEGGihsa:3032
UCSCiuc002rgz.4 human [P55084-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D16481 mRNA Translation: BAA03942.1
D86850 Genomic DNA Translation: BAA22061.1 Sequence problems.
AF113209 mRNA Translation: AAG39280.1
AK304455 mRNA Translation: BAG65272.1
AK314455 mRNA Translation: BAG37063.1
AC010896 Genomic DNA Translation: AAY14644.1
BC014572 mRNA Translation: AAH14572.1
BC017564 mRNA Translation: AAH17564.1
BC030824 mRNA Translation: AAH30824.1
BC066963 mRNA Translation: AAH66963.1
CCDSiCCDS1722.1 [P55084-1]
CCDS62872.1 [P55084-2]
PIRiJC2109
RefSeqiNP_000174.1, NM_000183.2 [P55084-1]
NP_001268441.1, NM_001281512.1
NP_001268442.1, NM_001281513.1 [P55084-2]
XP_011531105.1, XM_011532803.1 [P55084-1]
UniGeneiHs.515848

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5ZQZelectron microscopy4.20B/D1-474[»]
5ZRVelectron microscopy7.70B/D/F/H1-474[»]
ProteinModelPortaliP55084
SMRiP55084
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109282, 91 interactors
IntActiP55084, 63 interactors
MINTiP55084
STRINGi9606.ENSP00000325136

Protein family/group databases

MoonProtiP55084

PTM databases

iPTMnetiP55084
PhosphoSitePlusiP55084
SwissPalmiP55084

Polymorphism and mutation databases

BioMutaiHADHB
DMDMi116241345

2D gel databases

UCD-2DPAGEiP55084

Proteomic databases

EPDiP55084
MaxQBiP55084
PaxDbiP55084
PeptideAtlasiP55084
PRIDEiP55084
ProteomicsDBi56786

Protocols and materials databases

DNASUi3032
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000317799; ENSP00000325136; ENSG00000138029 [P55084-1]
ENST00000545822; ENSP00000442665; ENSG00000138029 [P55084-2]
GeneIDi3032
KEGGihsa:3032
UCSCiuc002rgz.4 human [P55084-1]

Organism-specific databases

CTDi3032
DisGeNETi3032
EuPathDBiHostDB:ENSG00000138029.13
GeneCardsiHADHB
HGNCiHGNC:4803 HADHB
HPAiHPA037539
HPA037540
HPA066099
MalaCardsiHADHB
MIMi143450 gene
609015 phenotype
neXtProtiNX_P55084
OpenTargetsiENSG00000138029
Orphaneti746 Mitochondrial trifunctional protein deficiency
PharmGKBiPA29177
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1392 Eukaryota
COG0183 LUCA
GeneTreeiENSGT00910000144143
HOGENOMiHOG000012240
HOVERGENiHBG104782
InParanoidiP55084
KOiK07509
OMAiMTAFPEP
OrthoDBiEOG091G09R7
PhylomeDBiP55084
TreeFamiTF315243

Enzyme and pathway databases

UniPathwayi
UPA00659

BioCyciMetaCyc:HS06436-MONOMER
ReactomeiR-HSA-1482798 Acyl chain remodeling of CL
R-HSA-77285 Beta oxidation of myristoyl-CoA to lauroyl-CoA
R-HSA-77288 mitochondrial fatty acid beta-oxidation of unsaturated fatty acids
R-HSA-77305 Beta oxidation of palmitoyl-CoA to myristoyl-CoA
R-HSA-77310 Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA
R-HSA-77346 Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA
R-HSA-77348 Beta oxidation of octanoyl-CoA to hexanoyl-CoA
R-HSA-77350 Beta oxidation of hexanoyl-CoA to butanoyl-CoA

Miscellaneous databases

ChiTaRSiHADHB human
GeneWikiiHADHB
GenomeRNAii3032
PROiPR:P55084
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000138029 Expressed in 237 organ(s), highest expression level in heart right ventricle
CleanExiHS_HADHB
ExpressionAtlasiP55084 baseline and differential
GenevisibleiP55084 HS

Family and domain databases

CDDicd00751 thiolase, 1 hit
Gene3Di3.40.47.10, 1 hit
InterProiView protein in InterPro
IPR002155 Thiolase
IPR016039 Thiolase-like
IPR020615 Thiolase_acyl_enz_int_AS
IPR020610 Thiolase_AS
IPR020617 Thiolase_C
IPR020613 Thiolase_CS
IPR020616 Thiolase_N
PfamiView protein in Pfam
PF02803 Thiolase_C, 1 hit
PF00108 Thiolase_N, 1 hit
SUPFAMiSSF53901 SSF53901, 2 hits
TIGRFAMsiTIGR01930 AcCoA-C-Actrans, 1 hit
PROSITEiView protein in PROSITE
PS00098 THIOLASE_1, 1 hit
PS00737 THIOLASE_2, 1 hit
PS00099 THIOLASE_3, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiECHB_HUMAN
AccessioniPrimary (citable) accession number: P55084
Secondary accession number(s): B2RB16
, B4E2W0, O14969, Q53TA6, Q96C77, Q9H3F5, Q9T2V8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 17, 2006
Last modified: September 12, 2018
This is version 187 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  7. PATHWAY comments
    Index of metabolic and biosynthesis pathways
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