Details for: HADHB

Gene ID: 3032

Symbol: HADHB

Ensembl ID: ENSG00000138029

Description: hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 3.53
    Marker Score: 78907
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 3.02
    Marker Score: 7569
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 3.02
    Marker Score: 1612
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 3
    Marker Score: 53228.5
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 2.9
    Marker Score: 4804.5
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 2.62
    Marker Score: 7034
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 2.39
    Marker Score: 6018
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 2.34
    Marker Score: 9811
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 2.16
    Marker Score: 10356
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 2.11
    Marker Score: 7498
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 2.08
    Marker Score: 2210
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 2.06
    Marker Score: 8096
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.04
    Marker Score: 3001
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 2.01
    Marker Score: 17302
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.95
    Marker Score: 6914
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 1.94
    Marker Score: 2073
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 1.87
    Marker Score: 2880
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.86
    Marker Score: 8021.5
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 1.85
    Marker Score: 2239
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.82
    Marker Score: 3219
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.8
    Marker Score: 1940
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.79
    Marker Score: 11623.5
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 1.79
    Marker Score: 45746.5
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.77
    Marker Score: 2509
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.77
    Marker Score: 37708
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.76
    Marker Score: 17735
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 1.76
    Marker Score: 23237
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 1.76
    Marker Score: 1002
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.71
    Marker Score: 1738.5
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.71
    Marker Score: 1773
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.7
    Marker Score: 4631.5
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 1.69
    Marker Score: 8316
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.68
    Marker Score: 6884
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.68
    Marker Score: 3510
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.68
    Marker Score: 2410
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.67
    Marker Score: 1771
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.63
    Marker Score: 1411
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 1.62
    Marker Score: 9612
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.61
    Marker Score: 3668
  • Cell Name: kidney loop of Henle epithelial cell (CL1000909)
    Fold Change: 1.6
    Marker Score: 1001
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.59
    Marker Score: 1684
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 1.59
    Marker Score: 523
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.59
    Marker Score: 1060
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.57
    Marker Score: 5145
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.56
    Marker Score: 6022.5
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.55
    Marker Score: 1060
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 1.55
    Marker Score: 438
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.54
    Marker Score: 1985
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.54
    Marker Score: 3755
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 1.53
    Marker Score: 2608
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.53
    Marker Score: 85631
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.53
    Marker Score: 3603.5
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 1.52
    Marker Score: 4773
  • Cell Name: blood cell (CL0000081)
    Fold Change: 1.52
    Marker Score: 17640.5
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 1.51
    Marker Score: 1578.5
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 1.51
    Marker Score: 1768
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.5
    Marker Score: 3556
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.5
    Marker Score: 432
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.5
    Marker Score: 9613
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.49
    Marker Score: 1571.5
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.49
    Marker Score: 350
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.49
    Marker Score: 819
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.47
    Marker Score: 351.5
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.47
    Marker Score: 7889
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.46
    Marker Score: 711
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 1.46
    Marker Score: 2395
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.46
    Marker Score: 50497
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 1.46
    Marker Score: 910
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.45
    Marker Score: 1463
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 1.45
    Marker Score: 2236
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 1.45
    Marker Score: 1790
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.45
    Marker Score: 6243
  • Cell Name: ventricular cardiac muscle cell (CL2000046)
    Fold Change: 1.45
    Marker Score: 600
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 1.44
    Marker Score: 582
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 1.43
    Marker Score: 2610
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.42
    Marker Score: 1783.5
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.42
    Marker Score: 1515
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 1.42
    Marker Score: 530
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 1.42
    Marker Score: 447.5
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 1.41
    Marker Score: 531
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.4
    Marker Score: 2163
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 1.4
    Marker Score: 570
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.4
    Marker Score: 15736
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.39
    Marker Score: 1502
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 1.38
    Marker Score: 480
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 1.37
    Marker Score: 1292
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: 1.37
    Marker Score: 475
  • Cell Name: theca cell (CL0000503)
    Fold Change: 1.37
    Marker Score: 981
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 1.37
    Marker Score: 1221
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.37
    Marker Score: 12971
  • Cell Name: capillary endothelial cell (CL0002144)
    Fold Change: 1.36
    Marker Score: 1467
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.36
    Marker Score: 1251
  • Cell Name: club cell (CL0000158)
    Fold Change: 1.36
    Marker Score: 1588
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 1.36
    Marker Score: 710
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 1.36
    Marker Score: 984
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 1.35
    Marker Score: 1355
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.35
    Marker Score: 13707.5
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.35
    Marker Score: 509.5
  • Cell Name: enterocyte of epithelium proper of ileum (CL1000342)
    Fold Change: 1.35
    Marker Score: 390
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 1.35
    Marker Score: 1127

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Other Information

## Summary The HADHB gene encodes a trifunctional enzyme complex subunit of the hydroxyacyl-CoA dehydrogenase (HAD) family. HADs are involved in various cellular processes, including fatty acid metabolism, cholesterol synthesis, and detoxification. ## Key characteristics * The HADHB gene is located on chromosome 15q21.1. * It encodes a protein of 1,650 amino acids. * The protein is composed of three subunits, each of which is encoded by a separate gene. * The three subunits are connected by disulfide bonds. ## Pathways and functions The HADHB gene product is a key enzyme in the metabolism of fatty acids. It is involved in the following pathways: * The citric acid cycle * The fatty acid beta-oxidation pathway * The cholesterol synthesis pathway The HADHB gene product is also involved in the following cellular processes: * Detoxification * Steroidogenesis * Lipid synthesis ## Clinical significance Mutations in the HADHB gene have been linked to several human diseases, including: * Hyperlipidemia * Coronary artery disease * Hypertension * Diabetes * Obesity The HADHB gene is a promising target for the treatment of these diseases.

Genular Protein ID: 3073439848

Symbol: ECHB_HUMAN

Name: Trifunctional enzyme subunit beta, mitochondrial

UniProtKB Accession Codes:

P55084 B2RB16 B4E2W0 O14969 Q53TA6 Q96C77 Q9H3F5 Q9T2V8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CORUM 1 CTD 1 ChEBI 28 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EC 2 EMBL 10 EMDB 2 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 17 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 MoonProt 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PIR 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 8 RefSeq 4 Rhea 14 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCD-2DPAGE 1 UCSC 1 UniPathway 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8135828

Title: Structural analysis of cDNAs for subunits of human mitochondrial fatty acid beta-oxidation trifunctional protein.

PubMed ID: 8135828

DOI: 10.1006/bbrc.1994.1302

PubMed ID: 9259266

Title: Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency.

PubMed ID: 9259266

DOI: 10.1093/hmg/6.8.1215

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12665801

Title: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.

PubMed ID: 12665801

DOI: 10.1038/nbt810

PubMed ID: 7958339

Title: The mitochondrial long-chain trifunctional enzyme: 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase and 3-oxoacyl-CoA thiolase.

PubMed ID: 7958339

DOI: 10.1042/bst0220427

PubMed ID: 15242332

Title: Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes.

PubMed ID: 15242332

DOI: 10.1042/bj20040647

PubMed ID: 1550553

Title: Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria.

PubMed ID: 1550553

DOI: 10.1016/0006-291x(92)90501-b

PubMed ID: 8163672

Title: Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.

PubMed ID: 8163672

DOI: 10.1172/jci117158

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21527675

Title: Human cytomegalovirus directly induces the antiviral protein viperin to enhance infectivity.

PubMed ID: 21527675

DOI: 10.1126/science.1202007

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 29915090

Title: Cryo-EM structure of human mitochondrial trifunctional protein.

PubMed ID: 29915090

DOI: 10.1073/pnas.1801252115

PubMed ID: 32243843

Title: Mitoregulin Controls beta-Oxidation in Human and Mouse Adipocytes.

PubMed ID: 32243843

DOI: 10.1016/j.stemcr.2020.03.002

PubMed ID: 30850536

Title: Crystal structure of human mitochondrial trifunctional protein, a fatty acid beta-oxidation metabolon.

PubMed ID: 30850536

DOI: 10.1073/pnas.1816317116

PubMed ID: 8651282

Title: Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits.

PubMed ID: 8651282

PubMed ID: 12754706

Title: Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.

PubMed ID: 12754706

DOI: 10.1002/humu.10211

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

Sequence Information:

  • Length: 474
  • Mass: 51294
  • Checksum: A7B41C37BEC1E6AD
  • Sequence:
    • MTILTYPFKN LPTASKWALR FSIRPLSCSS QLRAAPAVQT KTKKTLAKPN IRNVVVVDGV 
RTPFLLSGTS YKDLMPHDLA RAALTGLLHR TSVPKEVVDY IIFGTVIQEV KTSNVAREAA 
LGAGFSDKTP AHTVTMACIS ANQAMTTGVG LIASGQCDVI VAGGVELMSD VPIRHSRKMR 
KLMLDLNKAK SMGQRLSLIS KFRFNFLAPE LPAVSEFSTS ETMGHSADRL AAAFAVSRLE 
QDEYALRSHS LAKKAQDEGL LSDVVPFKVP GKDTVTKDNG IRPSSLEQMA KLKPAFIKPY 
GTVTAANSSF LTDGASAMLI MAEEKALAMG YKPKAYLRDF MYVSQDPKDQ LLLGPTYATP 
KVLEKAGLTM NDIDAFEFHE AFSGQILANF KAMDSDWFAE NYMGRKTKVG LPPLEKFNNW 
GGSLSLGHPF GATGCRLVMA AANRLRKEGG QYGLVAACAA GGQGHAMIVE AYPK

Genular Protein ID: 478404071

Symbol: F5GZQ3_HUMAN

Name: N/A

UniProtKB Accession Codes:

F5GZQ3

Database IDs:

ARBA 18 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 28 ChiTaRS 1 DNASU 1 EC 2 EMBL 1 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 2 Gene3D 1 GeneTree 1 GenomeRNAi 1 HGNC 1 InterPro 7 MassIVE 1 MaxQB 2 NCBI Taxonomy 1 NCBIfam 1 OrthoDB 1 PANTHER 2 PROSITE 3 PeptideAtlas 1 Pfam 4 Proteomes 2 ProteomicsDB 1 RefSeq 1 Rhea 14 RuleBase 1 SMR 1 SUPFAM 1 SwissPalm 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

Sequence Information:

  • Length: 459
  • Mass: 49597
  • Checksum: CED0D1A038DD1512
  • Sequence:
    • MTILTYPFKN LPTASKWALR FSIRPLSCSS QLRAAPAVQT KTKKTLAKPN IRNVVVVDGV 
RTPFLLSGTS GLLHRTSVPK EVVDYIIFGT VIQEVKTSNV AREAALGAGF SDKTPAHTVT 
MACISANQAM TTGVGLIASG QCDVIVAGGV ELMSDVPIRH SRKMRKLMLD LNKAKSMGQR 
LSLISKFRFN FLAPELPAVS EFSTSETMGH SADRLAAAFA VSRLEQDEYA LRSHSLAKKA 
QDEGLLSDVV PFKVPGKDTV TKDNGIRPSS LEQMAKLKPA FIKPYGTVTA ANSSFLTDGA 
SAMLIMAEEK ALAMGYKPKA YLRDFMYVSQ DPKDQLLLGP TYATPKVLEK AGLTMNDIDA 
FEFHEAFSGQ ILANFKAMDS DWFAENYMGR KTKVGLPPLE KFNNWGGSLS LGHPFGATGC 
RLVMAAANRL RKEGGQYGLV AACAAGGQGH AMIVEAYPK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.