Aldh18a1 (aldehyde dehydrogenase 18 family, member A1) - Rat Genome Database

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Gene: Aldh18a1 (aldehyde dehydrogenase 18 family, member A1) Rattus norvegicus
Analyze
Symbol: Aldh18a1
Name: aldehyde dehydrogenase 18 family, member A1
RGD ID: 1311431
Description: Predicted to enable glutamate 5-kinase activity; glutamate-5-semialdehyde dehydrogenase activity; and identical protein binding activity. Involved in response to temperature stimulus. Located in mitochondrial membrane. Human ortholog(s) of this gene implicated in cataract; cutis laxa (multiple); enterocele; and hereditary spastic paraplegia (multiple). Orthologous to human ALDH18A1 (aldehyde dehydrogenase 18 family member A1); PARTICIPATES IN arginine and proline metabolic pathway; INTERACTS WITH (+)-schisandrin B; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: delta-1-pyrroline-5-carboxylate synthase; LOC108348083; LOC361755; Pycs; pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81249,325,082 - 249,357,383 (-)NCBIGRCr8
mRatBN7.21239,375,657 - 239,407,956 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1239,375,669 - 239,407,890 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1247,511,391 - 247,543,700 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01254,215,141 - 254,247,493 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01246,868,177 - 246,900,530 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01259,641,673 - 259,674,521 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1259,641,676 - 259,674,425 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl1259,057,402 - 259,089,642 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01267,085,392 - 267,117,725 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01266,505,493 - 266,537,820 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41245,685,979 - 245,718,198 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11245,796,065 - 245,825,127 (-)NCBI
Celera1235,221,086 - 235,253,280 (-)NCBICelera
Cytogenetic Map1q54NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


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Object Symbol
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Original Reference(s)
Aldh18a1Ratautosomal recessive cutis laxa type III  ISOALDH18A1 (Homo sapiens)13434923DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human)RGD 
Aldh18a1Ratautosomal recessive cutis laxa type III  ISOALDH18A1 (Homo sapiens)13434922DNA:deletions:cds:RGD 
Aldh18a1Ratautosomal recessive cutis laxa type IIIA  ISOALDH18A1 (Homo sapiens)13439710DNA:mutations:cds:c.2246G>A(p.R749Q) and c.2294G>A(p.R765Q)(human)RGD 
Aldh18a1Ratcataract  ISOALDH18A1 (Homo sapiens)13434923DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human)RGD 
Aldh18a1Ratenterocele  ISOALDH18A1 (Homo sapiens)13434923DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human)RGD 
Aldh18a1RatFetal Growth Retardation  ISOALDH18A1 (Homo sapiens)13434923DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human)RGD 
Aldh18a1Rathereditary spastic paraplegia  ISOALDH18A1 (Homo sapiens)13434921DNA:mutations:cds:RGD 
Aldh18a1Rathereditary spastic paraplegia 9A  ISOALDH18A1 (Homo sapiens)11056004DNA:mutations:cds:p.V243L and p.R252Q(human)RGD 
Aldh18a1RatNeurocutaneous Syndromes  ISOALDH18A1 (Homo sapiens)13439711DNA:missense mutation and exon:2350C>T(p.H784Y)(human)RGD 
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1 to 13 of 13 rows
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Original Reference(s)
Aldh18a1Ratagammaglobulinemia 4  ISOALDH18A1 (Homo sapiens)8554872ClinVar Annotator: match by term: Agammaglobulinemia 4 and autosomal recessiveClinVarPMID:28492532
Aldh18a1Ratautosomal dominant cutis laxa 3  ISOALDH18A1 (Homo sapiens)8554872ClinVar Annotator: match by term: Cutis laxa and autosomal dominant 3ClinVarPMID:11092761 more ...
Aldh18a1RatAutosomal Recessive Cutis Laxa  ISOALDH18A1 (Homo sapiens)8554872ClinVar Annotator: match by term: Cutis Laxa and RecessiveClinVarPMID:28492532
Aldh18a1Ratautosomal recessive cutis laxa type III  ISOALDH18A1 (Homo sapiens)8554872ClinVar more ...ClinVarPMID:11092761 more ...
Aldh18a1Ratautosomal recessive cutis laxa type IIIA  ISOALDH18A1 (Homo sapiens)8554872ClinVar more ...ClinVarPMID:11092761 more ...
Aldh18a1Ratgenetic disease  ISOALDH18A1 (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:17576681 more ...
Aldh18a1Rathereditary spastic paraplegia  ISOALDH18A1 (Homo sapiens)8554872ClinVar Annotator: match by term: Hereditary spastic paraplegiaClinVarPMID:25741868 and PMID:28492532
Aldh18a1Rathereditary spastic paraplegia 5A  ISOALDH18A1 (Homo sapiens)8554872ClinVar Annotator: match by term: Hereditary spastic paraplegia 5AClinVarPMID:25741868 and PMID:28492532
Aldh18a1Rathereditary spastic paraplegia 9A  ISOALDH18A1 (Homo sapiens)8554872ClinVar more ...ClinVarPMID:25741868 more ...
Aldh18a1Rathereditary spastic paraplegia 9B  ISOALDH18A1 (Homo sapiens)8554872ClinVar more ...ClinVarPMID:17576681 more ...
Aldh18a1Ratintellectual disability  ISOALDH18A1 (Homo sapiens)8554872ClinVar Annotator: match by term: Intellectual disabilityClinVarPMID:25741868 and PMID:28492532
Aldh18a1RatNervous System Malformations  ISOALDH18A1 (Homo sapiens)8554872ClinVar Annotator: match by term: Abnormality of the nervous systemClinVarPMID:25077174 more ...
Aldh18a1Ratspondyloepiphyseal dysplasia Stanescu type  ISOALDH18A1 (Homo sapiens)8554872ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia and Stanescu typeClinVarPMID:25741868 more ...
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Original Reference(s)
Aldh18a1RatAnimal Disease Models  ISOALDH18A1 (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:27602772
Aldh18a1Ratautosomal dominant cutis laxa  ISOALDH18A1 (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTD 
Aldh18a1Rathereditary spastic paraplegia 9A  ISOALDH18A1 (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTD 
Aldh18a1Ratlung adenocarcinoma  ISOALDH18A1 (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:27602772

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Original Reference(s)
Aldh18a1Rat(+)-schisandrin B multiple interactionsEXP 6480464schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of ALDH18A1 mRNA]CTDPMID:31150632
Aldh18a1Rat1,1-dichloroethene increases expressionISOAldh18a1 (Mus musculus)6480464vinylidene chloride results in increased expression of ALDH18A1 mRNACTDPMID:26682919
Aldh18a1Rat17alpha-ethynylestradiol increases expressionISOAldh18a1 (Mus musculus)6480464Ethinyl Estradiol results in increased expression of ALDH18A1 mRNACTDPMID:12072388
Aldh18a1Rat17beta-estradiol increases expressionEXP 6480464Estradiol results in increased expression of ALDH18A1 mRNACTDPMID:32145629
Aldh18a1Rat2,2',4,4',5,5'-hexachlorobiphenyl multiple interactionsISOAldh18a1 (Mus musculus)6480464[2 more ...CTDPMID:25510870
Aldh18a1Rat2,2',5,5'-tetrachlorobiphenyl multiple interactionsISOAldh18a1 (Mus musculus)6480464[2 more ...CTDPMID:25510870
Aldh18a1Rat2,3,7,8-tetrachlorodibenzodioxine affects expressionEXP 6480464Tetrachlorodibenzodioxin affects the expression of ALDH18A1 mRNACTDPMID:22298810
Aldh18a1Rat2,3,7,8-tetrachlorodibenzodioxine affects expressionISOAldh18a1 (Mus musculus)6480464Tetrachlorodibenzodioxin affects the expression of ALDH18A1 mRNACTDPMID:21570461
Aldh18a1Rat2-amino-14,16-dimethyloctadecan-3-ol decreases expressionISOALDH18A1 (Homo sapiens)64804642-amino-14 and 16-dimethyloctadecan-3-ol results in decreased expression of ALDH18A1 proteinCTDPMID:32044396
Aldh18a1Rat4,4'-diaminodiphenylmethane increases expressionEXP 64804644 and 4'-diaminodiphenylmethane results in increased expression of ALDH18A1 mRNACTDPMID:30723492
Aldh18a1Rat4-hydroxyphenyl retinamide decreases expressionISOAldh18a1 (Mus musculus)6480464Fenretinide results in decreased expression of ALDH18A1 mRNACTDPMID:28973697
Aldh18a1Rat4-hydroxyphenyl retinamide increases expressionISOAldh18a1 (Mus musculus)6480464Fenretinide results in increased expression of ALDH18A1 mRNACTDPMID:28973697
Aldh18a1Ratacrylamide increases expressionEXP 6480464Acrylamide results in increased expression of ALDH18A1 mRNACTDPMID:28959563
Aldh18a1Ratacrylamide decreases expressionISOALDH18A1 (Homo sapiens)6480464Acrylamide results in decreased expression of ALDH18A1 mRNACTDPMID:32763439
Aldh18a1Ratactinomycin D multiple interactionsISOALDH18A1 (Homo sapiens)6480464[Dactinomycin co-treated with nutlin 3] results in increased secretion of ALDH18A1 proteinCTDPMID:38460933
Aldh18a1Ratadefovir pivoxil decreases expressionISOALDH18A1 (Homo sapiens)6480464adefovir dipivoxil results in decreased expression of ALDH18A1 mRNACTDPMID:25596134
Aldh18a1Rataflatoxin B1 decreases expressionISOAldh18a1 (Mus musculus)6480464Aflatoxin B1 results in decreased expression of ALDH18A1 mRNACTDPMID:19770486
Aldh18a1Rataflatoxin B1 increases expressionEXP 6480464Aflatoxin B1 results in increased expression of ALDH18A1 mRNACTDPMID:23630614 and PMID:25378103
Aldh18a1Rataldrin increases expressionISOAldh18a1 (Mus musculus)6480464Aldrin results in increased expression of ALDH18A1 mRNACTDPMID:18579281
Aldh18a1Ratall-trans-retinoic acid decreases expressionISOALDH18A1 (Homo sapiens)6480464Tretinoin results in decreased expression of ALDH18A1 mRNACTDPMID:33167477

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Biological Process
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Original Reference(s)
Aldh18a1Ratamino acid biosynthetic process involved_inIEAUniProtKB-KW:KW-00281600115GO_REF:0000043UniProtGO_REF:0000043
Aldh18a1Ratamino acid biosynthetic process involved_inIEAARBA:ARBA000273551600115GO_REF:0000117UniProtGO_REF:0000117
Aldh18a1Ratcitrulline biosynthetic process involved_inISOALDH18A1 (Homo sapiens)1624291 PMID:11092761 and PMID:26297558RGDPMID:11092761 and PMID:26297558
Aldh18a1Ratcitrulline biosynthetic process involved_inIEAUniProtKB:P54886 and ensembl:ENSP000003602681600115GO_REF:0000107EnsemblGO_REF:0000107
Aldh18a1Ratglutamate metabolic process involved_inISOALDH18A1 (Homo sapiens)1624291 PMID:11092761RGDPMID:11092761
Aldh18a1Ratglutamate metabolic process involved_inIEAUniProtKB:P54886 and ensembl:ENSP000003602681600115GO_REF:0000107EnsemblGO_REF:0000107
Aldh18a1RatL-proline biosynthetic process involved_inIEAUniPathway:UPA000981600115GO_REF:0000041UniProtGO_REF:0000041
Aldh18a1RatL-proline biosynthetic process involved_inIEAUniRule:UR0005257781600115GO_REF:0000104UniProtGO_REF:0000104
Aldh18a1Ratornithine biosynthetic process involved_inISOALDH18A1 (Homo sapiens)1624291 PMID:11092761 and PMID:26297558RGDPMID:11092761 and PMID:26297558
Aldh18a1Ratornithine biosynthetic process involved_inIEAUniProtKB:P54886 and ensembl:ENSP000003602681600115GO_REF:0000107EnsemblGO_REF:0000107
Aldh18a1Ratproline biosynthetic process involved_inISOALDH18A1 (Homo sapiens)1624291 PMID:11092761 and PMID:26297558RGDPMID:11092761 and PMID:26297558
Aldh18a1Ratproline biosynthetic process involved_inIEAUniProtKB-KW:KW-06411600115GO_REF:0000043UniProtGO_REF:0000043
Aldh18a1Ratproline biosynthetic process involved_inIEAInterPro:IPR000965 more ...1600115GO_REF:0000002InterProGO_REF:0000002
Aldh18a1Ratproline biosynthetic process involved_inIEAUniProtKB:P54886 and ensembl:ENSP000003602681600115GO_REF:0000107EnsemblGO_REF:0000107
Aldh18a1Ratresponse to temperature stimulus  IDA 13439717 RGD 
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Cellular Component
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Aldh18a1Ratcytoplasm located_inIEAInterPro:IPR0057151600115GO_REF:0000002InterProGO_REF:0000002
Aldh18a1Ratmitochondrial matrix is_active_inISOALDH18A1 (Homo sapiens)1624291 PMID:32770108RGDPMID:32770108
Aldh18a1Ratmitochondrial matrix is_active_inIEAUniProtKB:P54886 and ensembl:ENSP000003602681600115GO_REF:0000107EnsemblGO_REF:0000107
Aldh18a1Ratmitochondrial membrane  IDA 13439717 RGD 
Aldh18a1Ratmitochondrion located_inISOALDH18A1 (Homo sapiens) more ...1624291 RGDGO_REF:0000052
Aldh18a1Ratmitochondrion located_inIEAUniProtKB:P54886 and ensembl:ENSP000003602681600115GO_REF:0000107EnsemblGO_REF:0000107
Aldh18a1Ratmitochondrion located_inIEAUniRule:UR0005257781600115GO_REF:0000104UniProtGO_REF:0000104
Aldh18a1Ratmitochondrion is_active_inIBAPANTHER:PTN000869169 more ...1600115GO_REF:0000033GO_CentralGO_REF:0000033
Aldh18a1Ratmitochondrion located_inISOALDH18A1 (Homo sapiens)1624291 PMID:26297558 and PMID:26320891RGDPMID:26297558 and PMID:26320891
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Molecular Function
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Aldh18a1RatATP binding enablesIEAUniRule:UR0005257781600115GO_REF:0000104UniProtGO_REF:0000104
Aldh18a1RatATP binding enablesIEAUniProtKB-KW:KW-00671600115GO_REF:0000043UniProtGO_REF:0000043
Aldh18a1RatATP binding enablesIEAInterPro:IPR0010571600115GO_REF:0000002InterProGO_REF:0000002
Aldh18a1Ratcatalytic activity enablesIEAUniProtKB-KW:KW-05111600115GO_REF:0000043UniProtGO_REF:0000043
Aldh18a1Ratcatalytic activity enablesIEAInterPro:IPR0057661600115GO_REF:0000002InterProGO_REF:0000002
Aldh18a1Ratglutamate 5-kinase activity enablesISOALDH18A1 (Homo sapiens)1624291 PMID:11092761 and PMID:26297558RGDPMID:11092761 and PMID:26297558
Aldh18a1Ratglutamate 5-kinase activity enablesIEAUniRule:UR0005257781600115GO_REF:0000104UniProtGO_REF:0000104
Aldh18a1Ratglutamate 5-kinase activity enablesIEAUniProtKB:Q9Z110 and ensembl:ENSMUSP000000259791600115GO_REF:0000107EnsemblGO_REF:0000107
Aldh18a1Ratglutamate 5-kinase activity enablesISOAldh18a1 (Mus musculus)1624291 PMID:10037775RGDPMID:10037775
Aldh18a1Ratglutamate 5-kinase activity enablesIEAUniProtKB:P54886 and ensembl:ENSP000003602681600115GO_REF:0000107EnsemblGO_REF:0000107
Aldh18a1Ratglutamate 5-kinase activity enablesIEAInterPro:IPR0197971600115GO_REF:0000002InterProGO_REF:0000002
Aldh18a1Ratglutamate-5-semialdehyde dehydrogenase activity enablesISOALDH18A1 (Homo sapiens)1624291 PMID:11092761 and PMID:26297558RGDPMID:11092761 and PMID:26297558
Aldh18a1Ratglutamate-5-semialdehyde dehydrogenase activity enablesIEAInterPro:IPR000965 and InterPro:IPR0205931600115GO_REF:0000002InterProGO_REF:0000002
Aldh18a1Ratglutamate-5-semialdehyde dehydrogenase activity enablesIEAUniProtKB:P54886 and ensembl:ENSP000003602681600115GO_REF:0000107EnsemblGO_REF:0000107
Aldh18a1Ratglutamate-5-semialdehyde dehydrogenase activity enablesIBAFB:FBgn0037146 more ...1600115GO_REF:0000033GO_CentralGO_REF:0000033
Aldh18a1Ratglutamate-5-semialdehyde dehydrogenase activity enablesIEAUniRule:UR0005257781600115GO_REF:0000104UniProtGO_REF:0000104
Aldh18a1Ratidentical protein binding enablesISOALDH18A1 (Homo sapiens)1624291 PMID:26297558RGDPMID:26297558
Aldh18a1Ratidentical protein binding enablesIEAUniProtKB:P54886 and ensembl:ENSP000003602681600115GO_REF:0000107EnsemblGO_REF:0000107
Aldh18a1Ratkinase activity enablesIEAUniProtKB-KW:KW-04181600115GO_REF:0000043UniProtGO_REF:0000043
Aldh18a1Ratkinase activity enablesIEAInterPro:IPR0010571600115GO_REF:0000002InterProGO_REF:0000002
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Imported Annotations - KEGG (archival)

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Original Reference(s)
Aldh18a1Ratarginine and proline metabolic pathway  IEA 6907045 KEGGrno:00330

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#
Reference Title
Reference Citation
1. A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. Bicknell LS, etal., Eur J Hum Genet. 2008 Oct;16(10):1176-86. doi: 10.1038/ejhg.2008.91. Epub 2008 May 14.
2. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Coutelier M, etal., Brain. 2015 Aug;138(Pt 8):2191-205. doi: 10.1093/brain/awv143. Epub 2015 May 29.
3. Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. Fischer B, etal., Mol Genet Metab. 2014 Aug;112(4):310-6. doi: 10.1016/j.ymgme.2014.05.003. Epub 2014 May 21.
4. Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. Fischer-Zirnsak B, etal., Am J Hum Genet. 2015 Sep 3;97(3):483-92. doi: 10.1016/j.ajhg.2015.08.001. Epub 2015 Aug 27.
5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
6. Rat ISS GO annotations from GOA human gene data--August 2006 GOA data from the GO Consortium
7. Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome. Handley MT, etal., Mol Genet Genomic Med. 2014 Jul;2(4):319-25. doi: 10.1002/mgg3.70. Epub 2014 Mar 11.
8. Factors influencing pyrroline 5-carboxylate synthesis from glutamate by rat intestinal mucosa mitochondria. Henslee JG, etal., Arch Biochem Biophys. 1983 Oct 15;226(2):693-703.
9. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
10. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
11. ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. Panza E, etal., Brain. 2016 Jan;139(Pt 1):e3. doi: 10.1093/brain/awv247. Epub 2015 Aug 21.
12. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
13. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
14. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
15. Pyrroline-5-carboxylate synthesis from glutamate by rat intestinal mucosa. Subcellular localization and temperature stability. Wakabayashi Y, etal., J Biol Chem. 1983 Mar 25;258(6):3873-82.
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PMID:10037775   PMID:11092761   PMID:14651853   PMID:18614015   PMID:22658674  



Aldh18a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81249,325,082 - 249,357,383 (-)NCBIGRCr8
mRatBN7.21239,375,657 - 239,407,956 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1239,375,669 - 239,407,890 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1247,511,391 - 247,543,700 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01254,215,141 - 254,247,493 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01246,868,177 - 246,900,530 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01259,641,673 - 259,674,521 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1259,641,676 - 259,674,425 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl1259,057,402 - 259,089,642 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01267,085,392 - 267,117,725 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01266,505,493 - 266,537,820 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41245,685,979 - 245,718,198 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11245,796,065 - 245,825,127 (-)NCBI
Celera1235,221,086 - 235,253,280 (-)NCBICelera
Cytogenetic Map1q54NCBI
ALDH18A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381095,605,941 - 95,656,711 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1095,605,941 - 95,656,711 (-)EnsemblGRCh38hg38GRCh38
GRCh371097,365,698 - 97,416,468 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361097,355,676 - 97,406,557 (-)NCBINCBI36Build 36hg18NCBI36
Build 341097,355,691 - 97,406,372NCBI
Celera1091,106,883 - 91,157,764 (-)NCBICelera
Cytogenetic Map10q24.1NCBI
HuRef1090,993,396 - 91,044,247 (-)NCBIHuRef
CHM1_11097,647,547 - 97,698,414 (-)NCBICHM1_1
T2T-CHM13v2.01096,485,079 - 96,535,811 (-)NCBIT2T-CHM13v2.0
Aldh18a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391940,538,701 - 40,576,907 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1940,538,701 - 40,576,907 (-)EnsemblGRCm39 Ensembl
GRCm381940,550,257 - 40,588,463 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1940,550,257 - 40,588,463 (-)EnsemblGRCm38mm10GRCm38
MGSCv371940,624,747 - 40,662,953 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361940,603,568 - 40,641,680 (-)NCBIMGSCv36mm8
Celera1941,354,703 - 41,390,340 (-)NCBICelera
Cytogenetic Map19C3NCBI
cM Map1934.25NCBI
Aldh18a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555071,892,061 - 1,946,703 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555071,892,087 - 1,946,526 (-)NCBIChiLan1.0ChiLan1.0
ALDH18A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28107,509,648 - 107,560,640 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110107,514,963 - 107,565,958 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01092,216,639 - 92,267,525 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11095,723,099 - 95,774,095 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1095,723,099 - 95,774,095 (-)Ensemblpanpan1.1panPan2
ALDH18A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1289,101,578 - 9,148,063 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl289,102,282 - 9,147,992 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha289,277,306 - 9,324,003 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0289,363,581 - 9,410,371 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl289,363,590 - 9,410,427 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1289,080,159 - 9,126,835 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0289,138,798 - 9,185,591 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0289,282,780 - 9,329,594 (-)NCBIUU_Cfam_GSD_1.0
LOC101975532
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721337,740,140 - 37,762,024 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366363,760,326 - 3,801,073 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366363,779,259 - 3,800,846 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ALDH18A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14107,170,689 - 107,221,215 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114107,174,062 - 107,221,373 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214116,807,918 - 116,855,192 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ALDH18A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1988,773,493 - 88,823,438 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604849,641,146 - 49,691,137 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Aldh18a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247376,921,222 - 6,970,488 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247376,921,619 - 6,970,113 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in Aldh18a1
218 total Variants

Predicted Target Of
Summary Value
Count of predictions:445
Count of miRNA genes:216
Interacting mature miRNAs:257
Transcripts:ENSRNOT00000020940
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


1 to 10 of 73 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
1578778Pur4Proteinuria QTL 43.30.003urine total protein amount (VT:0000032)urine total protein excretion rate (CMO:0000756)1150700247252085048Rat
1354646Kidm18Kidney mass QTL 185.7kidney mass (VT:0002707)calculated kidney weight (CMO:0000160)1151162512256448636Rat
1357335Bw39Body weight QTL 393.3body mass (VT:0001259)body weight (CMO:0000012)1197814409242814409Rat
631690Scl5Serum cholesterol level QTL 52.1blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)1236125214260522016Rat
2302375Bw83Body weight QTL 834.870.0002body mass (VT:0001259)body weight (CMO:0000012)1197697768242697768Rat
1354652Kidm20Kidney mass QTL 204.3kidney mass (VT:0002707)calculated kidney weight (CMO:0000160)1177227632256448636Rat
2293674Bss39Bone structure and strength QTL 397.10.0001femur strength trait (VT:0010010)femur total energy absorbed before break (CMO:0001677)1201554356246554356Rat
2302378Insul11Insulin level QTL 113.25blood insulin amount (VT:0001560)serum insulin level (CMO:0000358)1144267353251128347Rat
61327Eae7Experimental allergic encephalomyelitis QTL 75.6body mass (VT:0001259)change in body weight (CMO:0002045)1216255568260522016Rat
1600392Bw123Body weight QTL 1230.001body mass (VT:0001259)body weight (CMO:0000012)1223201027260522016Rat

1 to 10 of 73 rows
RH128175  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21239,375,731 - 239,375,948 (+)MAPPERmRatBN7.2
Rnor_6.01259,641,748 - 259,641,964NCBIRnor6.0
Rnor_6.01259,057,482 - 259,057,698NCBIRnor6.0
Rnor_5.01266,505,568 - 266,505,784UniSTSRnor5.0
Rnor_5.01267,085,467 - 267,085,683UniSTSRnor5.0
RGSC_v3.41245,686,048 - 245,686,264UniSTSRGSC3.4
Celera1235,221,155 - 235,221,371UniSTS
Cytogenetic Map1q54UniSTS




alimentary part of gastrointestinal system
circulatory system
ectoderm
endocrine system
endoderm
hemolymphoid system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
2 2 5 1 2 1 7 3 5 2 4 2



Ensembl Acc Id: ENSRNOT00000020940   ⟹   ENSRNOP00000020940
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0 Ensembl1259,057,413 - 259,089,632 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000091116   ⟹   ENSRNOP00000074318
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0 Ensembl1259,641,676 - 259,674,425 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000091297   ⟹   ENSRNOP00000071408
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0 Ensembl1259,057,402 - 259,089,642 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000120003   ⟹   ENSRNOP00000089847
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1239,375,669 - 239,407,890 (-)Ensembl
RefSeq Acc Id: NM_001108524   ⟹   NP_001101994
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81249,325,082 - 249,357,383 (-)NCBI
mRatBN7.21239,375,657 - 239,407,956 (-)NCBI
Rnor_6.01259,641,679 - 259,674,426 (-)NCBI
Rnor_5.01267,085,392 - 267,117,725 (-)NCBI
RGSC_v3.41245,685,979 - 245,718,198 (-)RGD
Celera1235,221,086 - 235,253,280 (-)RGD
Sequence:
RefSeq Acc Id: NM_001395675   ⟹   NP_001382604
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81249,325,082 - 249,357,383 (-)NCBI
mRatBN7.21239,375,657 - 239,407,956 (-)NCBI
Protein RefSeqs NP_001101994 (Get FASTA)   NCBI Sequence Viewer  
  NP_001382604 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein EDL94184 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSRNOP00000089847
  ENSRNOP00000089847.1
RefSeq Acc Id: NP_001101994   ⟸   NM_001108524
- Peptide Label: isoform 1
- UniProtKB: A6JH60 (UniProtKB/TrEMBL),   A0A8I6AAN3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000074318   ⟸   ENSRNOT00000091116
Ensembl Acc Id: ENSRNOP00000020940   ⟸   ENSRNOT00000020940
Ensembl Acc Id: ENSRNOP00000071408   ⟸   ENSRNOT00000091297
Ensembl Acc Id: ENSRNOP00000089847   ⟸   ENSRNOT00000120003
Aldehyde dehydrogenase   Aspartate/glutamate/uridylate kinase

Name Modeler Protein Id AA Range Protein Structure
AF-D3ZIE9-F1-model_v2 AlphaFold D3ZIE9 1-795 view protein structure


eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen

RGD ID:13690899
Promoter ID:EPDNEW_R1422
Type:initiation region
Name:Aldh18a1_1
Description:aldehyde dehydrogenase 18 family, member A1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.01259,674,435 - 259,674,495EPDNEW


1 to 40 of 40 rows
Database
Acc Id
Source(s)
BioCyc Gene G2FUF-55706 BioCyc
Ensembl Genes ENSRNOG00000015267 Ensembl
  ENSRNOG00000060047 Ensembl
  ENSRNOG00000067262 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000120003 ENTREZGENE
  ENSRNOT00000120003.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.1160.10 UniProtKB/TrEMBL
  Aldehyde Dehydrogenase, Chain A, domain 1 UniProtKB/TrEMBL
  Aldehyde Dehydrogenase, Chain A, domain 2 UniProtKB/TrEMBL
InterPro AceGlu_kinase-like_sf UniProtKB/TrEMBL
  Ald_DH/histidinol_DH UniProtKB/TrEMBL
  Ald_DH_C UniProtKB/TrEMBL
  Ald_DH_N UniProtKB/TrEMBL
  Aldehyde_DH_dom UniProtKB/TrEMBL
  Asp/Glu/Uridylate_kinase UniProtKB/TrEMBL
  G-glutamylP_reductase_CS UniProtKB/TrEMBL
  G5K_ProBA UniProtKB/TrEMBL
  Glu/AcGlu_kinase UniProtKB/TrEMBL
  Glu_5kinase/COase_Synthase UniProtKB/TrEMBL
  Glutamate_5-kinase_CS UniProtKB/TrEMBL
  GPR_dom UniProtKB/TrEMBL
  P5_carboxy_syn UniProtKB/TrEMBL
KEGG Report rno:361755 UniProtKB/TrEMBL
NCBI Gene 361755 ENTREZGENE
PANTHER DELTA-1-PYRROLINE-5-CARBOXYLATE SYNTHASE UniProtKB/TrEMBL
  GLUTAMATE SEMIALDEHYDE DEHYDROGENASE UniProtKB/TrEMBL
Pfam AA_kinase UniProtKB/TrEMBL
  Aldedh UniProtKB/TrEMBL
PhenoGen Aldh18a1 PhenoGen
PIRSF P5C_syn UniProtKB/TrEMBL
PRINTS GLU5KINASE UniProtKB/TrEMBL
PROSITE GLUTAMATE_5_KINASE UniProtKB/TrEMBL
  PROA UniProtKB/TrEMBL
RatGTEx ENSRNOG00000015267 RatGTEx
  ENSRNOG00000060047 RatGTEx
  ENSRNOG00000067262 RatGTEx
Superfamily-SCOP SSF53633 UniProtKB/TrEMBL
  SSF53720 UniProtKB/TrEMBL
UniProt A0A8I6AAN3 ENTREZGENE, UniProtKB/TrEMBL
  A6JH60 ENTREZGENE, UniProtKB/TrEMBL
1 to 40 of 40 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-03-09 Aldh18a1  aldehyde dehydrogenase 18 family, member A1  LOC108348083  delta-1-pyrroline-5-carboxylate synthase  Data merged from RGD:11512751 737654 PROVISIONAL
2016-08-02 LOC108348083  delta-1-pyrroline-5-carboxylate synthase      Symbol and Name status set to provisional 70820 PROVISIONAL
2010-04-23 Aldh18a1  aldehyde dehydrogenase 18 family, member A1  Pycs  pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2008-04-30 Pycs  pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)   Pycs_predicted  pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase) (predicted)  'predicted' is removed 2292626 APPROVED
2005-01-12 Pycs_predicted  pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase) (predicted)      Symbol and Name status set to approved 70820 APPROVED