Details for: ACO1

Gene ID: 48

Symbol: ACO1

Ensembl ID: ENSG00000122729

Description: aconitase 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: subcutaneous fat cell (CL0002521)
    Fold Change: 2.08
    Marker Score: 762
  • Cell Name: fat cell (CL0000136)
    Fold Change: 2
    Marker Score: 1116
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.72
    Marker Score: 5645
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.71
    Marker Score: 6077
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.48
    Marker Score: 5491
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.48
    Marker Score: 621
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.46
    Marker Score: 2553
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.41
    Marker Score: 3329
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.36
    Marker Score: 50259
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.34
    Marker Score: 12638
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.34
    Marker Score: 28664
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.34
    Marker Score: 5793
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.31
    Marker Score: 26006
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.31
    Marker Score: 13484
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.3
    Marker Score: 49335
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.27
    Marker Score: 10911
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.23
    Marker Score: 1490
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.21
    Marker Score: 7771
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.2
    Marker Score: 6451
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.2
    Marker Score: 5019
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.2
    Marker Score: 4962
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 1.19
    Marker Score: 681
  • Cell Name: oocyte (CL0000023)
    Fold Change: 1.19
    Marker Score: 295
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.18
    Marker Score: 2269
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.17
    Marker Score: 321
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.15
    Marker Score: 4518
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 1.14
    Marker Score: 299.5
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.13
    Marker Score: 38466
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 1.12
    Marker Score: 28670
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.11
    Marker Score: 1494
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.09
    Marker Score: 16365
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.09
    Marker Score: 2300
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.07
    Marker Score: 1231
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.05
    Marker Score: 510
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 1.02
    Marker Score: 6539
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.01
    Marker Score: 4831
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.01
    Marker Score: 7705
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71737
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47962
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30397
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.98
    Marker Score: 15293
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.98
    Marker Score: 2215
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.97
    Marker Score: 1494
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2403
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 485
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 440
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.93
    Marker Score: 2203
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5260.5
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.92
    Marker Score: 1495
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2716
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.91
    Marker Score: 530
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.88
    Marker Score: 556
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5295
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.87
    Marker Score: 255
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 310
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.8
    Marker Score: 1765
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 0.8
    Marker Score: 180
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.8
    Marker Score: 250
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.79
    Marker Score: 606
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.79
    Marker Score: 3229
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.79
    Marker Score: 473
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.79
    Marker Score: 191
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.78
    Marker Score: 8763
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.77
    Marker Score: 1954
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.77
    Marker Score: 310
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.77
    Marker Score: 762
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.77
    Marker Score: 1131
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.76
    Marker Score: 1742
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.76
    Marker Score: 287
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.76
    Marker Score: 2041
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.76
    Marker Score: 519
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.76
    Marker Score: 1088
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.75
    Marker Score: 3214
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.74
    Marker Score: 4473
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.74
    Marker Score: 13149
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.73
    Marker Score: 307
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.73
    Marker Score: 276
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.73
    Marker Score: 698
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.73
    Marker Score: 759
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 378
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.73
    Marker Score: 494
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 0.72
    Marker Score: 399
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.72
    Marker Score: 430
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.71
    Marker Score: 266
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.71
    Marker Score: 885
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.71
    Marker Score: 6734
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.71
    Marker Score: 2969
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.71
    Marker Score: 411
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.7
    Marker Score: 173
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.7
    Marker Score: 751
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.7
    Marker Score: 815
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.69
    Marker Score: 15396
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.69
    Marker Score: 734
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 0.69
    Marker Score: 286
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.69
    Marker Score: 4072
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.69
    Marker Score: 626
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.68
    Marker Score: 592
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.68
    Marker Score: 657
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 172
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.66
    Marker Score: 802

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Other Information

**Key characteristics:** * It is a multi-functional enzyme that can be divided into two subunits: ACOH and Q9HBB2. * ACOH is responsible for the hydration of citrate to isocitrate. * Q9HBB2 is involved in the transport of small molecules and may have additional functions. **Pathways and functions:** * The ACO1 gene is involved in multiple metabolic pathways, including the citric acid cycle, the TCA cycle, and iron-dependent metabolism. * It is a key regulator of energy metabolism and can be affected by various factors, including nutrients, hormones, and diseases. * ACO1 mutations have been linked to several human diseases, including obesity, diabetes, and heart disease. **Clinical significance:** * Targeting ACO1 has emerged as a potential therapeutic strategy for diseases associated with the citric acid cycle and energy metabolism. * Inhibition of ACO1 can improve glucose metabolism, reduce fat storage, and promote the breakdown of fatty acids. * Clinical trials are currently exploring the use of ACO1 inhibitors as a treatment for obesity, type 2 diabetes, and other metabolic disorders.

Genular Protein ID: 1610431017

Symbol: ACOHC_HUMAN

Name: Citrate hydro-lyase

UniProtKB Accession Codes:

P21399 D3DRK7 Q14652 Q5VZA7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CPTAC 1 CTD 1 ChEBI 6 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 1 EMBL 8 EPD 1 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 19 Gene3D 3 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 MetOSite 1 MoonDB 1 MoonProt 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 2 PIR 1 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 1 RefSeq 4 Rhea 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCD-2DPAGE 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1738601

Title: Expression of active iron regulatory factor from a full-length human cDNA by in vitro transcription/translation.

PubMed ID: 1738601

DOI: 10.1093/nar/20.1.33

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

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: 2172968

Title: Cloning of the cDNA encoding an RNA regulatory protein -- the human iron-responsive element-binding protein.

PubMed ID: 2172968

DOI: 10.1073/pnas.87.20.7958

PubMed ID: 1903202

Title: Homology between IRE-BP, a regulatory RNA-binding protein, aconitase, and isopropylmalate isomerase.

PubMed ID: 1903202

DOI: 10.1093/nar/19.8.1739

PubMed ID: 1946430

Title: A regulated RNA binding protein also possesses aconitase activity.

PubMed ID: 1946430

DOI: 10.1073/pnas.88.22.10109

PubMed ID: 1281544

Title: Cellular regulation of the iron-responsive element binding protein: disassembly of the cubane iron-sulfur cluster results in high-affinity RNA binding.

PubMed ID: 1281544

DOI: 10.1073/pnas.89.24.11735

PubMed ID: 8041788

Title: The bifunctional iron-responsive element binding protein/cytosolic aconitase: the role of active-site residues in ligand binding and regulation.

PubMed ID: 8041788

DOI: 10.1073/pnas.91.15.7321

PubMed ID: 19762596

Title: Control of iron homeostasis by an iron-regulated ubiquitin ligase.

PubMed ID: 19762596

DOI: 10.1126/science.1176333

PubMed ID: 19762597

Title: An E3 ligase possessing an iron responsive hemerythrin domain is a regulator of iron homeostasis.

PubMed ID: 19762597

DOI: 10.1126/science.1176326

PubMed ID: 20053667

Title: Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin.

PubMed ID: 20053667

DOI: 10.1093/hmg/ddp592

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23891004

Title: Human CIA2A-FAM96A and CIA2B-FAM96B integrate iron homeostasis and maturation of different subsets of cytosolic-nuclear iron-sulfur proteins.

PubMed ID: 23891004

DOI: 10.1016/j.cmet.2013.06.015

PubMed ID: 29320706

Title: Human CIA2A-FAM96A and CIA2B-FAM96B Integrate Iron Homeostasis and Maturation of Different Subsets of Cytosolic-Nuclear Iron-Sulfur Proteins.

PubMed ID: 29320706

DOI: 10.1016/j.cmet.2017.12.009

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: 16407072

Title: Crystal structure of human iron regulatory protein 1 as cytosolic aconitase.

PubMed ID: 16407072

DOI: 10.1016/j.str.2005.09.009

PubMed ID: 23033978

Title: Diagnostic exome sequencing in persons with severe intellectual disability.

PubMed ID: 23033978

DOI: 10.1056/nejmoa1206524

Sequence Information:

  • Length: 889
  • Mass: 98399
  • Checksum: E1A05AF701D46DCB
  • Sequence:
    • MSNPFAHLAE PLDPVQPGKK FFNLNKLEDS RYGRLPFSIR VLLEAAIRNC DEFLVKKQDI 
ENILHWNVTQ HKNIEVPFKP ARVILQDFTG VPAVVDFAAM RDAVKKLGGD PEKINPVCPA 
DLVIDHSIQV DFNRRADSLQ KNQDLEFERN RERFEFLKWG SQAFHNMRII PPGSGIIHQV 
NLEYLARVVF DQDGYYYPDS LVGTDSHTTM IDGLGILGWG VGGIEAEAVM LGQPISMVLP 
QVIGYRLMGK PHPLVTSTDI VLTITKHLRQ VGVVGKFVEF FGPGVAQLSI ADRATIANMC 
PEYGATAAFF PVDEVSITYL VQTGRDEEKL KYIKKYLQAV GMFRDFNDPS QDPDFTQVVE 
LDLKTVVPCC SGPKRPQDKV AVSDMKKDFE SCLGAKQGFK GFQVAPEHHN DHKTFIYDNT 
EFTLAHGSVV IAAITSCTNT SNPSVMLGAG LLAKKAVDAG LNVMPYIKTS LSPGSGVVTY 
YLQESGVMPY LSQLGFDVVG YGCMTCIGNS GPLPEPVVEA ITQGDLVAVG VLSGNRNFEG 
RVHPNTRANY LASPPLVIAY AIAGTIRIDF EKEPLGVNAK GQQVFLKDIW PTRDEIQAVE 
RQYVIPGMFK EVYQKIETVN ESWNALATPS DKLFFWNSKS TYIKSPPFFE NLTLDLQPPK 
SIVDAYVLLN LGDSVTTDHI SPAGNIARNS PAARYLTNRG LTPREFNSYG SRRGNDAVMA 
RGTFANIRLL NRFLNKQAPQ TIHLPSGEIL DVFDAAERYQ QAGLPLIVLA GKEYGAGSSR 
DWAAKGPFLL GIKAVLAESY ERIHRSNLVG MGVIPLEYLP GENADALGLT GQERYTIIIP 
ENLKPQMKVQ VKLDTGKTFQ AVMRFDTDVE LTYFLNGGIL NYMIRKMAK

Genular Protein ID: 574578564

Symbol: Q9HBB2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9HBB2

Database IDs:

ARBA 13 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChEBI 1 ChiTaRS 1 DNASU 1 EMBL 2 GO 5 Gene3D 3 GenomeRNAi 1 InterPro 8 KEGG 1 MaxQB 1 NCBI Taxonomy 1 NCBIfam 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 2 PeptideAtlas 1 Pfam 4 ProteomicsDB 1 RefSeq 1 RuleBase 1 SMR 1 SUPFAM 2

Citations:

PubMed ID: 10944468

Title: cDNA cloning by amplification of circularized first strand cDNAs reveals non-IRE-regulated iron-responsive mRNAs.

PubMed ID: 10944468

DOI: 10.1006/bbrc.2000.3282

Sequence Information:

  • Length: 790
  • Mass: 87089
  • Checksum: 4DEE8385DCA07C77
  • Sequence:
    • MRDAVKKLGG DPEKINPVCP ADLVIDHSIQ VDFNRRADSL QKNQDLEFER NRERFEFLKW 
GSQAFHNMRI IPPGSGIIHQ VNLEYLARVV FDQDGYYYPD SLVGTDSHTT MIDGLGILGW 
GVGGIEAEAV MLGQPISMVL PQVIGYRLMG KPHPLVTSTD IVLTITKHLR QVGVVGKFVE 
FFGPGVAQLS IADRATIANM CPEYGATAAF FPVDEVSITY LVQTGRDEEK LKYIKKYLQA 
VGMFRDFNDP SQDPDFTQVV ELDLKTVVPC CSGPKRPQDK VAVSDMKKDF ESCLGAKQGF 
KGFQVAPEHH NDHKTFIYDN TEFTLAHGSV VIAAITSCTN TSNPSVMLGA GLLAKKAVDA 
GLNVMPYIKT SLSPGSGVVT YYLQESGVMP YLSQLGFDVV GYGCMTCIGN SGPLPEPVVE 
AITQGDLVAV GVLSGNRNFE GRVHPNTRAN YLASPPLVIA YAIAGTIRID FEKEPLGVNA 
KGQQVFLKDI WPTRDEIQAV ERQYVIPGMF KEVYQKIETV NESWNALATP SDKLFFWNSK 
STYIKSPPFF ENLTLDLQPP KSIVDAYVLL NLGDSVTTDH ISPAGNIARN SPAARYLTNR 
GLTPREFNSY GSRRGNDAVM ARGTFANIRL LNRFLNKQAP QTIHLPSGEI LDVFDAAERY 
QQAGLPLIVL AGKEYGAGSS RDWAAKGPFL LGIKAVLAES YERIHRSNLV GMGVIPLEYL 
PGENADALGL TGQERYTIII PENLKPQMKV QVKLDTGKTF QAVMRFDTDV ELTYFLNGGI 
LNYMIRKMAK

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.