Details for: BDH1

Gene ID: 622

Symbol: BDH1

Ensembl ID: ENSG00000161267

Description: 3-hydroxybutyrate dehydrogenase 1

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: hepatoblast (CL0005026)
    Fold Change: 3.56
    Marker Score: 11656
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.86
    Marker Score: 68663
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.77
    Marker Score: 35139
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.75
    Marker Score: 7254
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.74
    Marker Score: 16391
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.7
    Marker Score: 104265
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.69
    Marker Score: 64341
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.67
    Marker Score: 8985
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.65
    Marker Score: 15636
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.61
    Marker Score: 6224
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.6
    Marker Score: 16500
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.6
    Marker Score: 10269
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 1.58
    Marker Score: 4971
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.58
    Marker Score: 23600
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.55
    Marker Score: 6672
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.52
    Marker Score: 2346
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.49
    Marker Score: 11434
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.49
    Marker Score: 12771
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168664.5
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.46
    Marker Score: 3437
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.42
    Marker Score: 593
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.37
    Marker Score: 436
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.33
    Marker Score: 3149
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.2
    Marker Score: 10327
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.17
    Marker Score: 1162.5
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.09
    Marker Score: 299
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.07
    Marker Score: 22816
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 1.06
    Marker Score: 9214
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.05
    Marker Score: 4295
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71756
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47981
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.99
    Marker Score: 4775
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30401
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2407
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.95
    Marker Score: 488
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.94
    Marker Score: 442
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.93
    Marker Score: 2664
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5301
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.91
    Marker Score: 3144
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2722
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.9
    Marker Score: 340
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.9
    Marker Score: 603
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.9
    Marker Score: 615
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.9
    Marker Score: 2409
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.89
    Marker Score: 3732
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.89
    Marker Score: 1310
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5296
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.87
    Marker Score: 1453
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 310
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.86
    Marker Score: 499
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 0.85
    Marker Score: 6612
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.84
    Marker Score: 1368
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.84
    Marker Score: 418
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 0.79
    Marker Score: 1503
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.79
    Marker Score: 254
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.77
    Marker Score: 591
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.77
    Marker Score: 2094.5
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.76
    Marker Score: 3199.5
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.74
    Marker Score: 5538
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 378
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.72
    Marker Score: 290
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 460
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.72
    Marker Score: 486
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 0.72
    Marker Score: 686
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.71
    Marker Score: 212
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.7
    Marker Score: 868
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.7
    Marker Score: 538
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.7
    Marker Score: 218
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.69
    Marker Score: 784
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.69
    Marker Score: 575
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.68
    Marker Score: 622
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.68
    Marker Score: 344
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 171
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.66
    Marker Score: 194
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.66
    Marker Score: 573
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.66
    Marker Score: 155.5
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.66
    Marker Score: 652
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.65
    Marker Score: 3009
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.64
    Marker Score: 477
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.63
    Marker Score: 550
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.63
    Marker Score: 157
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.63
    Marker Score: 300
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.62
    Marker Score: 283
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.62
    Marker Score: 150
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.62
    Marker Score: 821
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.61
    Marker Score: 658
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.61
    Marker Score: 418
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.61
    Marker Score: 654
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.6
    Marker Score: 641
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.6
    Marker Score: 848
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.59
    Marker Score: 188
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.59
    Marker Score: 221
  • Cell Name: endothelial cell of sinusoid (CL0002262)
    Fold Change: 0.59
    Marker Score: 143
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.58
    Marker Score: 1427
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.58
    Marker Score: 894
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.58
    Marker Score: 304
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.56
    Marker Score: 262
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.55
    Marker Score: 352
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.55
    Marker Score: 142
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 432

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Other Information

**Key characteristics:** - BDH1 is a glycoprotein with a molecular weight of approximately 150 kDa. - It is located in the cytoplasm of cells. - It is a member of the 3-hydroxybutyrate dehydrogenase family. - It is involved in the metabolism of ketone bodies, which are produced when the body breaks down glucose for energy. **Pathways and functions:** - BDH1 is involved in the following pathways: - Intracellular membrane-bounded organelle metabolism - Ketone body metabolism - Metabolism of proteins - Mitochondrial matrix metabolism - Metabolism of lipids - Synthesis of ketone bodies - Utilization of ketone bodies **Clinical significance:** - BDH1 mutations can lead to a genetic disorder called BHDR1 deficiency. - This disorder is characterized by intellectual disability, seizures, and metabolic acidosis. - BDH1 deficiency is caused by mutations in the BDH1 gene. - Treatment for BHDR1 deficiency is not available at this time. **Conclusion:** BDH1 is a key enzyme in the citric acid cycle, which is responsible for the production of energy for cells. Mutations in the BDH1 gene can lead to a genetic disorder called BHDR1 deficiency, which is characterized by intellectual disability, seizures, and metabolic acidosis.

Genular Protein ID: 2789983625

Symbol: BDH_HUMAN

Name: Short chain dehydrogenase/reductase family 9C member 1

UniProtKB Accession Codes:

Q02338 D3DXC0 Q96ET1 Q9BRZ4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 6 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 1 EMBL 8 EPD 1 Ensembl 5 ExpressionAtlas 1 GO 6 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 2 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 2 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 5 Rhea 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1639787

Title: Molecular cloning and characterization of (R)-3-hydroxybutyrate dehydrogenase from human heart.

PubMed ID: 1639787

DOI: 10.1016/s0021-9258(19)49556-2

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: 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

Sequence Information:

  • Length: 343
  • Mass: 38157
  • Checksum: B8AA1148111ACA8F
  • Sequence:
    • MLATRLSRPL SRLPGKTLSA CDRENGARRP LLLGSTSFIP IGRRTYASAA EPVGSKAVLV 
TGCDSGFGFS LAKHLHSKGF LVFAGCLMKD KGHDGVKELD SLNSDRLRTV QLNVCSSEEV 
EKVVEIVRSS LKDPEKGMWG LVNNAGISTF GEVEFTSLET YKQVAEVNLW GTVRMTKSFL 
PLIRRAKGRV VNISSMLGRM ANPARSPYCI TKFGVEAFSD CLRYEMYPLG VKVSVVEPGN 
FIAATSLYSP ESIQAIAKKM WEELPEVVRK DYGKKYFDEK IAKMETYCSS GSTDTSPVID 
AVTHALTATT PYTRYHPMDY YWWLRMQIMT HLPGAISDMI YIR

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.