• Gene id: 48

Gene Summary

• Gene Symbol: ACO1   Gene   UCSC   Ensembl
• Aliases: ACONS, HEL60, IREB1, IREBP, IREBP1, IRP1
• Gene name: aconitase 1
• Alternate names: cytoplasmic aconitate hydratase, aconitase 1, soluble, aconitate hydratase, cytoplasmic, citrate hydro-lyase, cytoplasmic aconitase, cytosplasmic aconitase, epididymis luminal protein 60, epididymis secretory sperm binding protein, ferritin repressor protein, iron,
• Gene location: 9p21.1 (32384602: 32454768)     Exons: 23     NC_000009.12
• Gene summary(Entrez): The protein encoded by this gene is a bifunctional, cytosolic protein that functions as an essential enzyme in the TCA cycle and interacts with mRNA to control the levels of iron inside cells. When cellular iron levels are high, this protein binds to a 4F

SNPs

rs879253743

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.100975538C>A
NC_000002.12   g.100975538C>G
NC_000002.11   g.101592000C>A
NC_000002.11   g.101592000C>G
NG_023259.1   g.160388C>A
NG_023259.1   g.160388C>G
NM_002518.4   c.1363C>A
NM_002518.4   c.1363C>G
NM_002518.3   c.1363C>A
NM_002518.3   c.1363C>G
XM  

rs10835638

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.30230805G>A
NC_000011.10   g.30230805G>T
NC_000011.9   g.30252352G>A
NC_000011.9   g.30252352G>T
NG_008144.1   g.4790G>A
NG_008144.1   g.4790G>T|SEQ=[G/A/T]|GENE=FSHB
LOC105376607   105376607

rs10459953

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.27800492C>A
NC_000017.11   g.27800492C>G
NC_000017.11   g.27800492C>T
NC_000017.10   g.26127518C>A
NC_000017.10   g.26127518C>G
NC_000017.10   g.26127518C>T
NG_011470.1   g.5038G>T
NG_011470.1   g.5038G>C
NG_011470.1   g.5038G>A
NM_000625.4   c.-227G>T
  

rs6897876

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.142308074T>C
NC_000005.10   g.142308074T>G
NC_000005.9   g.141687639T>C
NC_000005.9   g.141687639T>G|SEQ=[T/C/G]

rs2070744

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.150992991C>T
NC_000007.13   g.150690079C>T
NG_011992.1   g.6933C>T
NG_055511.1   g.4870C>T|SEQ=[C/T]|GENE=NOS3

rs1046512

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.36990805A>C
NC_000003.11   g.37032296A>C
NG_007109.2   g.2456A>C
NG_008418.1   g.7500T>G
NM_014805.4   c.*449T>G
NM_014805.3   c.*449T>G|SEQ=[A/C]|GENE=EPM2AIP1

rs148454792

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.30233737C>A
NC_000011.9   g.30255284C>A
NG_008144.1   g.7722C>A
NM_000510.3   c.327C>A
NM_000510.2   c.327C>A
NM_001018080.2   c.327C>A
NM_001018080.1   c.327C>A
NP_000501.1   p.Ser109Arg
NP_001018090.1   p.Ser109Arg|SEQ=[C/A]|GENE=FSHB
LOC105376  

rs6170

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.30231961G>T
NC_000011.9   g.30253508G>T
NG_008144.1   g.5946G>T
NM_000510.3   c.59G>T
NM_000510.2   c.59G>T
NM_001018080.2   c.59G>T
NM_001018080.1   c.59G>T
NP_000501.1   p.Ser20Ile
NP_001018090.1   p.Ser20Ile|SEQ=[G/T]|GENE=FSHB
LOC105376607   10

rs2369679

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.96456415C>G
NC_000014.9   g.96456415C>T
NC_000014.8   g.96922752C>G
NC_000014.8   g.96922752C>T
NG_054631.1   g.69305C>G
NG_054631.1   g.69305C>T
NM_152327.5   c.1167C>G
NM_152327.5   c.1167C>T
NM_152327.4   c.1167C>G
NM_152327.4   c.1167C>T
NM_152327.3  

rs1877031

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.39657827G>A
NC_000017.10   g.37814080G>A
NM_006804.4   c.350G>A
NM_006804.3   c.350G>A
XM_017024041.2   c.350G>A
NM_001165937.1   c.350G>A
XM_024450549.1   c.-418G>A
NM_001165938.1   c.350G>A
NP_006795.3   p.Arg117Gln
XP_016879530.1   p.Arg117Gln
NP_001  

rs189037

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.108223106G>A
NC_000011.9   g.108093833G>A
NG_009830.1   g.5275G>A
NM_000051.4   c.-111G>A
NM_000051.3   c.-111G>A
NM_001351834.2   c.-199G>A
NM_001351834.1   c.-199G>A
NM_001351835.1   c.-111G>A
XM_011542844.3   c.-1133G>A
XM_011542842.3   c.-111G>A
XM_  

rs1799983

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.150999023T>A
NC_000007.14   g.150999023T>G
NC_000007.13   g.150696111T>A
NC_000007.13   g.150696111T>G
NG_011992.1   g.12965T>A
NG_011992.1   g.12965T>G
NM_000603.5   c.894T>A
NM_000603.5   c.894T>G
NM_000603.4   c.894T>A
NM_000603.4   c.894T>G
NM_00116  

rs2682826

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.117215033G>A
NC_000012.11   g.117652838G>A
NG_011991.2   g.151745C>T
NM_000620.5   c.*276C>T
NM_000620.4   c.*276C>T
NM_001204218.1   c.*276C>T
NM_001204213.1   c.*276C>T
NM_001204214.1   c.*276C>T|SEQ=[G/A]|GENE=NOS1

rs1047735

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.117247465G>A
NC_000012.11   g.117685270G>A
NG_011991.2   g.119313C>T
NM_000620.5   c.2706C>T
NM_000620.4   c.2706C>T
NM_001204218.1   c.2808C>T
NM_001204213.1   c.1698C>T
NM_001204214.1   c.1698C>T|SEQ=[G/A]|GENE=NOS1

rs2297518

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.27769571G>A
NC_000017.10   g.26096597G>A
NG_011470.1   g.35959C>T
NM_000625.4   c.1823C>T
NP_000616.3   p.Ser608Leu|SEQ=[G/A]|GENE=NOS2

rs4880

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.159692840A>G
NC_000006.11   g.160113872A>G
NG_008729.3   g.74690T>C
NM_001024465.3   c.47T>C
NM_001024465.2   c.47T>C
NM_001024465.1   c.47T>C
NM_001024466.3   c.47T>C
NM_001024466.2   c.47T>C
NM_001024466.1   c.47T>C
NM_001322817.2   c.-92T>C
NM_001322  

rs1805087

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.236885200A>G
NC_000001.10   g.237048500A>G
NG_008959.1   g.94920A>G
NM_000254.2   c.2756A>G
NM_001291940.2   c.1535A>G
NM_001291940.1   c.1535A>G
NM_001291939.1   c.2603A>G
XM_005273141.5   c.2753A>G
XM_005273141.1   c.2753A>G
XM_011544194.3   c.2924A>G

rs3105782

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.187253508A>G
NC_000003.11   g.186971296A>G
NG_029440.1   g.43515T>C|SEQ=[A/G]|GENE=MASP1

Protein Summary

• Protein general information: P21399  
  • Name: Cytoplasmic aconitate hydratase (Aconitase) (EC 4.2.1.3) (Citrate hydro lyase) (Ferritin repressor protein) (Iron regulatory protein 1) (IRP1) (Iron responsive element binding protein 1) (IRE BP 1)
  • Length: 889  
  • Mass: 98399
• Sequence:

  MSNPFAHLAEPLDPVQPGKKFFNLNKLEDSRYGRLPFSIRVLLEAAIRNCDEFLVKKQDIENILHWNVTQHKNIE
  VPFKPARVILQDFTGVPAVVDFAAMRDAVKKLGGDPEKINPVCPADLVIDHSIQVDFNRRADSLQKNQDLEFERN
  RERFEFLKWGSQAFHNMRIIPPGSGIIHQVNLEYLARVVFDQDGYYYPDSLVGTDSHTTMIDGLGILGWGVGGIE
  AEAVMLGQPISMVLPQVIGYRLMGKPHPLVTSTDIVLTITKHLRQVGVVGKFVEFFGPGVAQLSIADRATIANMC
  PEYGATAAFFPVDEVSITYLVQTGRDEEKLKYIKKYLQAVGMFRDFNDPSQDPDFTQVVELDLKTVVPCCSGPKR
  PQDKVAVSDMKKDFESCLGAKQGFKGFQVAPEHHNDHKTFIYDNTEFTLAHGSVVIAAITSCTNTSNPSVMLGAG
  LLAKKAVDAGLNVMPYIKTSLSPGSGVVTYYLQESGVMPYLSQLGFDVVGYGCMTCIGNSGPLPEPVVEAITQGD
  LVAVGVLSGNRNFEGRVHPNTRANYLASPPLVIAYAIAGTIRIDFEKEPLGVNAKGQQVFLKDIWPTRDEIQAVE
  RQYVIPGMFKEVYQKIETVNESWNALATPSDKLFFWNSKSTYIKSPPFFENLTLDLQPPKSIVDAYVLLNLGDSV
  TTDHISPAGNIARNSPAARYLTNRGLTPREFNSYGSRRGNDAVMARGTFANIRLLNRFLNKQAPQTIHLPSGEIL
  DVFDAAERYQQAGLPLIVLAGKEYGAGSSRDWAAKGPFLLGIKAVLAESYERIHRSNLVGMGVIPLEYLPGENAD
  ALGLTGQERYTIIIPENLKPQMKVQVKLDTGKTFQAVMRFDTDVELTYFLNGGILNYMIRKMAK

• Structural information:
  • Interpro: IPR015931  IPR001030  IPR015928  IPR006249  IPR018136   IPR036008  IPR000573  IPR029784  
  • Prosite: PS00450 PS01244
  • PDB: 2B3X 2B3Y
  • PDBsum: 2B3X 2B3Y
  • STRING: ENSP00000309477
• Other Databases: GeneCards:  ACO1  Malacards:  ACO1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006101	citrate metabolic process	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	IBA	cellular component
GO:0006099	tricarboxylic acid cycle	IBA	biological process
GO:0006101	citrate metabolic process	IBA	biological process
GO:0051538	3 iron, 4 sulfur cluster binding	IBA	molecular function
GO:0051539	4 iron, 4 sulfur cluster binding	IBA	molecular function
GO:0003994	aconitate hydratase activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0030350	iron-responsive element binding	IBA	molecular function
GO:0051539	4 iron, 4 sulfur cluster binding	IDA	molecular function
GO:0010040	response to iron(II) ion	IDA	biological process
GO:0006101	citrate metabolic process	IDA	biological process
GO:0030350	iron-responsive element binding	IDA	molecular function
GO:0003994	aconitate hydratase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030350	iron-responsive element binding	IMP	molecular function
GO:0006879	cellular iron ion homeostasis	IEA	biological process
GO:0010040	response to iron(II) ion	IEA	biological process
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0003994	aconitate hydratase activity	IEA	molecular function
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0047780	citrate dehydratase activity	IEA	molecular function
GO:0003994	aconitate hydratase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006879	cellular iron ion homeostasis	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0009791	post-embryonic development	IEA	biological process
GO:0006879	cellular iron ion homeostasis	IEA	biological process
GO:0006417	regulation of translation	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0050892	intestinal absorption	IEA	biological process
GO:0030350	iron-responsive element binding	IEA	molecular function
GO:0010468	regulation of gene expression	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0003994	aconitate hydratase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006101	citrate metabolic process	IMP	biological process
GO:0005737	cytoplasm	IMP	cellular component
GO:0003994	aconitate hydratase activity	IMP	molecular function
GO:0051538	3 iron, 4 sulfur cluster binding	IMP	molecular function
GO:0051539	4 iron, 4 sulfur cluster binding	IMP	molecular function
GO:0030350	iron-responsive element binding	IMP	molecular function
GO:0003994	aconitate hydratase activity	IDA	molecular function
GO:0003723	RNA binding	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0003723	RNA binding	NAS	molecular function
GO:0005737	cytoplasm	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa01230	Biosynthesis of amino acids
hsa00630	Glyoxylate and dicarboxylate metabolism
hsa00020	Citrate cycle
hsa01210	2-Oxocarboxylic acid metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray