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

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
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 Genes
More Info more info ...
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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 Ensembl1259,057,402 - 259,089,642 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl1259,641,676 - 259,674,425 (-)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


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (EXP)
1,1-dichloroethene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-amino-14,16-dimethyloctadecan-3-ol  (ISO)
4,4'-diaminodiphenylmethane  (EXP)
4-hydroxyphenyl retinamide  (ISO)
acrylamide  (EXP,ISO)
adefovir pivoxil  (ISO)
aflatoxin B1  (EXP,ISO)
aldrin  (ISO)
all-trans-retinoic acid  (ISO)
aminophylline  (ISO)
aristolochic acid A  (ISO)
azathioprine  (ISO)
benzo[a]pyrene  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bortezomib  (ISO)
cadmium dichloride  (ISO)
caffeine  (ISO)
carbon nanotube  (ISO)
chloroacetaldehyde  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cidofovir anhydrous  (ISO)
cisplatin  (ISO)
clofibric acid  (EXP)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (ISO)
corticosterone  (EXP)
Cuprizon  (EXP,ISO)
cyclosporin A  (EXP,ISO)
dexamethasone  (ISO)
diclofenac  (ISO)
dioxygen  (ISO)
enzyme inhibitor  (ISO)
ethanol  (EXP)
ethyl methanesulfonate  (ISO)
folic acid  (ISO)
furan  (EXP)
gentamycin  (EXP)
haloperidol  (ISO)
hydralazine  (ISO)
indometacin  (EXP)
irinotecan  (EXP)
ivermectin  (ISO)
ketamine  (EXP)
L-methionine  (ISO)
manganese(II) chloride  (EXP)
menadione  (ISO)
mercury dichloride  (EXP)
metformin  (EXP)
methidathion  (ISO)
methyl methanesulfonate  (ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N-nitrosodiethylamine  (EXP,ISO)
N-nitrosodimethylamine  (ISO)
ozone  (ISO)
paracetamol  (ISO)
PCB138  (ISO)
phenobarbital  (ISO)
phenylephrine  (EXP)
pirinixic acid  (ISO)
resveratrol  (ISO)
SB 431542  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
sunitinib  (ISO)
testosterone  (ISO)
tetrachloromethane  (EXP,ISO)
thapsigargin  (ISO)
thioacetamide  (EXP,ISO)
tolcapone  (EXP)
tributylstannane  (ISO)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (ISO)
trovafloxacin  (ISO)
urethane  (ISO)
valproic acid  (ISO)
zoledronic acid  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# 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.
Additional References at PubMed
PMID:10037775   PMID:11092761   PMID:14651853   PMID:18614015   PMID:22658674  


Genomics

Comparative Map Data
Aldh18a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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 Ensembl1259,057,402 - 259,089,642 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl1259,641,676 - 259,674,425 (-)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_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

Variants

.
Variants in Aldh18a1
194 total Variants
miRNA Target Status

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.


QTLs in Region (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
7421630Bp362Blood pressure QTL 3620.001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1118608292241799120Rat
2302378Insul11Insulin level QTL 113.25blood insulin amount (VT:0001560)serum insulin level (CMO:0000358)1144267353251128347Rat
724531Uae5Urinary albumin excretion QTL 54urine albumin amount (VT:0002871)urine albumin level (CMO:0000130)1150700142252085212Rat
1578759Uae30Urinary albumin excretion QTL 303.30.003urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)1150700247252085048Rat
1578778Pur4Proteinuria QTL 43.30.003urine total protein amount (VT:0000032)urine total protein excretion rate (CMO:0000756)1150700247252085048Rat
1354610Bw34Body weight QTL 344.1body mass (VT:0001259)body weight (CMO:0000012)1151162512256448636Rat
1354646Kidm18Kidney mass QTL 185.7kidney mass (VT:0002707)calculated kidney weight (CMO:0000160)1151162512256448636Rat
1354661Bw33Body weight QTL 335.2body mass (VT:0001259)body weight (CMO:0000012)1151162512256448636Rat
1549837Hcar15Hepatocarcinoma resistance QTL 150.05liver integrity trait (VT:0010547)liver tumorous lesion number (CMO:0001068)1153136852260522016Rat
1354580Scort1Serum corticosterone level QTL 13.4blood corticosterone amount (VT:0005345)blood corticosterone level (CMO:0001172)1156677124256448636Rat
2292220Bp306Blood pressure QTL 3063.470.00087arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1164310393243914901Rat
738032Hcas5Hepatocarcinoma susceptibility QTL 53.12liver integrity trait (VT:0010547)liver tumorous lesion number (CMO:0001068)1176426412257976495Rat
1354624Cm35Cardiac mass QTL355.7heart left ventricle mass (VT:0007031)calculated heart weight (CMO:0000073)1177227632256448636Rat
1354652Kidm20Kidney mass QTL 204.3kidney mass (VT:0002707)calculated kidney weight (CMO:0000160)1177227632256448636Rat
634321Hc1Hypercalciuria QTL 12.91urine calcium amount (VT:0002985)urine calcium excretion rate (CMO:0000763)1178810256240830002Rat
1578763Kidm29Kidney mass QTL 293.30.0001kidney mass (VT:0002707)both kidneys wet weight (CMO:0000085)1179567751260522016Rat
8655655Arrd2Age-related retinal degeneration QTL 27.79retinal layer morphology trait (VT:0003727)percentage of study population developing retinopathy during a period of time (CMO:0002453)1183970203243914901Rat
8655855Arrd3Age-related retinal degeneration QTL 33.07lens clarity trait (VT:0001304)cataract incidence/prevalence measurement (CMO:0001585)1183970203243914901Rat
1358898Bp255Blood pressure QTL 2553.6arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1191019702246062233Rat
1358191Ept10Estrogen-induced pituitary tumorigenesis QTL 103.8pituitary gland mass (VT:0010496)pituitary gland wet weight (CMO:0000853)1192825253243914732Rat
1600388Niddm67Non-insulin dependent diabetes mellitus QTL 675.840.000004blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)1195804352257091168Rat
1600395Niddm69Non-insulin dependent diabetes mellitus QTL 694.140.0002blood insulin amount (VT:0001560)plasma insulin level (CMO:0000342)1195804352257091168Rat
1600396Niddm68Non-insulin dependent diabetes mellitus QTL 684.970.0003blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)1195804352257091168Rat
631658Cm7Cardiac mass QTL 75.320.0001aorta mass (VT:0002845)aorta weight (CMO:0000076)1196248093241248093Rat
1358292Cm37Cardiac mass QTL 376.20.00000081heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)1196248093241248093Rat
1600374Mcs17Mammary carcinoma susceptibility QTL 173mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)1197670404242670404Rat
2302375Bw83Body weight QTL 834.870.0002body mass (VT:0001259)body weight (CMO:0000012)1197697768242697768Rat
61376Bp42Blood pressure QTL 4223.4arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1197814409242814409Rat
1298084Thym4Thymus enlargement QTL 410.68thymus mass (VT:0004954)thymus weight to body weight ratio (CMO:0000612)1197814409242814409Rat
1357335Bw39Body weight QTL 393.3body mass (VT:0001259)body weight (CMO:0000012)1197814409242814409Rat
634313Niddm43Non-insulin dependent diabetes mellitus QTL 43blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)1199050459259647894Rat
2293694Bss38Bone structure and strength QTL 387.050.0001femur strength trait (VT:0010010)femur stiffness (CMO:0001674)1201554356246554356Rat
7394701Uae46Urinary albumin excretion QTL 463.60.0056urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)1201554356246554356Rat
2300175Bmd40Bone mineral density QTL 4015.40.0001femur mineral mass (VT:0010011)bone mineral density (CMO:0001226)1201554356246554356Rat
2293655Bss36Bone structure and strength QTL 3610.660.0001femur strength trait (VT:0010010)femur ultimate force (CMO:0001675)1201554356246554356Rat
2293674Bss39Bone structure and strength QTL 397.10.0001femur strength trait (VT:0010010)femur total energy absorbed before break (CMO:0001677)1201554356246554356Rat
10059587Bw173Body weight QTL 1733.230.025body mass (VT:0001259)body weight (CMO:0000012)1202069611247069611Rat
1600363Hc6Hypercalciuria QTL 62.7urine calcium amount (VT:0002985)urine calcium excretion rate (CMO:0000763)1203995416244113296Rat
1600397Edcs4Endometrial carcinoma susceptibility QTL 42.2uterus morphology trait (VT:0001120)percentage of study population developing endometrioid carcinoma during a period of time (CMO:0001759)1206081677251081677Rat
1357399Bw45Body weight QTL 453.05body mass (VT:0001259)body mass index (BMI) (CMO:0000105)1206329708251329708Rat
1357404Bw42Body weight QTL 424.490.0001body mass (VT:0001259)body weight (CMO:0000012)1206329708251329708Rat
1358916Kidm22Kidney mass QTL 223.32kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)1210702053240947965Rat
1358890Bp259Blood pressure QTL 2593.06arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1210702053260522016Rat
2292216Bw80Body weight QTL 803.230.0019body mass (VT:0001259)body weight (CMO:0000012)1213533809243914901Rat
724538Kidm1Kidney mass QTL 13.2kidney mass (VT:0002707)calculated kidney weight (CMO:0000160)1213707201252085212Rat
734768Niddm59Non-insulin dependent diabetes mellitus QTL 59body mass (VT:0001259)body weight (CMO:0000012)1213843987258843987Rat
70211Niddm24Non-insulin dependent diabetes mellitus QTL 243.79blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)1214647894259647894Rat
1549910Bw54Body weight QTL 540.05body mass (VT:0001259)body weight (CMO:0000012)1214647894259647894Rat
61327Eae7Experimental allergic encephalomyelitis QTL 75.6body mass (VT:0001259)change in body weight (CMO:0002045)1216255568260522016Rat
2302040Pia35Pristane induced arthritis QTL 353.80.001blood immunoglobulin amount (VT:0002460)serum immunoglobulin G1 level (CMO:0002115)1216255568260522016Rat
1598821Rf55Renal function QTL 556.3renal blood flow trait (VT:2000006)ratio of change in renal blood flow to change in renal perfusion pressure (CMO:0001239)1218748008257976495Rat
61400Niddm1Non-insulin dependent diabetes mellitus QTL 111blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)1218753689245907899Rat
724533Rf51Renal function QTL 515.30.0002kidney plasma flow trait (VT:0005524)renal plasma flow (CMO:0001914)1218753816256448513Rat
731175Uae20Urinary albumin excretion QTL 203.50.0018urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)1221264111259647894Rat
10053715Scort24Serum corticosterone level QTL 242.130.0088blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)1221414816260522016Rat
724552Glom2Glomerulus QTL 23.30.0001kidney glomerulus morphology trait (VT:0005325)count of superficial glomeruli directly contacting the kidney surface (CMO:0001001)1222363780260522016Rat
1600392Bw123Body weight QTL 1230.001body mass (VT:0001259)body weight (CMO:0000012)1223201027260522016Rat
2293700Bmd27Bone mineral density QTL 276.60.0001femur mineral mass (VT:0010011)trabecular volumetric bone mineral density (CMO:0001729)1224054293243747962Rat
2293701Bmd34Bone mineral density QTL 348.30.0001femur strength trait (VT:0010010)femoral neck ultimate force (CMO:0001703)1224054293243747962Rat
734767Niddm57Non-insulin dependent diabetes mellitus QTL 57body mass (VT:0001259)body weight (CMO:0000012)1224054293260122809Rat
631843Bw116Body weight QTL 1164.10.016abdominal adipose amount (VT:1000220)abdominal fat pad weight (CMO:0000088)1224054293260122809Rat
734769Niddm58Non-insulin dependent diabetes mellitus QTL 58body mass (VT:0001259)body weight (CMO:0000012)1224569538260122809Rat
631215Stl8Serum triglyceride level QTL 89.270.0001blood triglyceride amount (VT:0002644)serum triglyceride level (CMO:0000360)1225126575260522016Rat
1300108Rf8Renal function QTL 83.75renal blood flow trait (VT:2000006)absolute change in renal vascular resistance (CMO:0001900)1228581588259647894Rat
2316896Gluco57Glucose level QTL 577.2blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)1228985440245907899Rat
1581544Rf52Renal function QTL 520.05urine total protein amount (VT:0000032)urine protein excretion rate to body weight ratio (CMO:0001099)1232156370259647894Rat
631669Iddm9Insulin dependent diabetes mellitus QTL 92.80.039blood glucose amount (VT:0000188)plasma glucose level (CMO:0000042)1233190394258625266Rat
631536Lnnr2Liver neoplastic nodule remodeling QTL 22.90.0005liver integrity trait (VT:0010547)liver remodeling tumorous lesion number to liver total tumorous lesion number ratio (CMO:0001705)1233948574260522016Rat
631690Scl5Serum cholesterol level QTL 52.1blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)1236125214260522016Rat
631836Stl31Serum triglyceride level QTL 314.640.00000487blood triglyceride amount (VT:0002644)plasma triglyceride level (CMO:0000548)1237147813260522016Rat
631837Niddm35Non-insulin dependent diabetes mellitus QTL 350.01blood insulin amount (VT:0001560)serum insulin level (CMO:0000358)1238699859259647894Rat

Markers in Region
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


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system hemolymphoid system nervous system renal system reproductive system respiratory system
High
Medium
Low
Below cutoff 2 2 1 1 5 2 4 1

Sequence


RefSeq Acc Id: ENSRNOT00000020940   ⟹   ENSRNOP00000020940
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0 Ensembl1259,057,413 - 259,089,632 (-)Ensembl
RefSeq Acc Id: ENSRNOT00000091116   ⟹   ENSRNOP00000074318
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0 Ensembl1259,641,676 - 259,674,425 (-)Ensembl
RefSeq Acc Id: ENSRNOT00000091297   ⟹   ENSRNOP00000071408
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0 Ensembl1259,057,402 - 259,089,642 (-)Ensembl
RefSeq 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
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
mRatBN7.21239,375,657 - 239,407,956 (-)NCBI
Protein Sequences
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:
RefSeq Acc Id: ENSRNOP00000074318   ⟸   ENSRNOT00000091116
RefSeq Acc Id: ENSRNOP00000020940   ⟸   ENSRNOT00000020940
RefSeq Acc Id: ENSRNOP00000071408   ⟸   ENSRNOT00000091297
RefSeq Acc Id: ENSRNOP00000089847   ⟸   ENSRNOT00000120003
RefSeq Acc Id: NP_001382604   ⟸   NM_001395675
- Peptide Label: isoform 2
- UniProtKB: A0A8I6AAN3 (UniProtKB/TrEMBL)
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-D3ZIE9-F1-model_v2 AlphaFold D3ZIE9 1-795 view protein structure

Transcriptome

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

Promoters
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

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:1311431 AgrOrtholog
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
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


Nomenclature History
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