Details for: ALDH18A1
Associated with
Cells (max top 100)
(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)
- Cell Name: polychromatophilic erythroblast (CL0000550)
Fold Change: 112.4110
Cell Significance Index: -17.4900 - Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 65.4659
Cell Significance Index: -16.6100 - Cell Name: smooth muscle fiber of ileum (CL1000278)
Fold Change: 45.5178
Cell Significance Index: -21.4900 - Cell Name: mucosal type mast cell (CL0000485)
Fold Change: 45.1684
Cell Significance Index: -18.3500 - Cell Name: ileal goblet cell (CL1000326)
Fold Change: 32.0109
Cell Significance Index: -21.4800 - Cell Name: ciliated cell of the bronchus (CL0002332)
Fold Change: 19.4607
Cell Significance Index: -18.5800 - Cell Name: orthochromatic erythroblast (CL0000552)
Fold Change: 16.0063
Cell Significance Index: -19.7400 - Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
Fold Change: 7.7720
Cell Significance Index: -20.8200 - Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 5.0962
Cell Significance Index: -20.1100 - Cell Name: gut absorptive cell (CL0000677)
Fold Change: 1.8811
Cell Significance Index: 112.9300 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 1.7770
Cell Significance Index: 193.2900 - Cell Name: tuft cell of small intestine (CL0009080)
Fold Change: 1.5633
Cell Significance Index: 15.7700 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 1.4716
Cell Significance Index: 239.3500 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 1.1566
Cell Significance Index: 33.3300 - Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 1.1406
Cell Significance Index: 24.7100 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 1.0493
Cell Significance Index: 208.2300 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 0.8596
Cell Significance Index: 40.0800 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.8072
Cell Significance Index: 728.8000 - Cell Name: pro-T cell (CL0000827)
Fold Change: 0.7668
Cell Significance Index: 19.5900 - Cell Name: paneth cell of colon (CL0009009)
Fold Change: 0.6987
Cell Significance Index: 10.4700 - Cell Name: serous secreting cell of bronchus submucosal gland (CL4033005)
Fold Change: 0.6985
Cell Significance Index: 6.9900 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.6915
Cell Significance Index: 138.7100 - Cell Name: granulosa cell (CL0000501)
Fold Change: 0.6214
Cell Significance Index: 16.3400 - Cell Name: fibroblast of dermis (CL0002551)
Fold Change: 0.5661
Cell Significance Index: 11.8500 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.4723
Cell Significance Index: 21.4100 - Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 0.4467
Cell Significance Index: 12.1600 - Cell Name: cell in vitro (CL0001034)
Fold Change: 0.4164
Cell Significance Index: 227.3800 - Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 0.3648
Cell Significance Index: 7.7700 - Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.3491
Cell Significance Index: 34.5300 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: 0.3367
Cell Significance Index: 9.4100 - Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: 0.3022
Cell Significance Index: 10.5000 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.3001
Cell Significance Index: 107.6300 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: 0.2887
Cell Significance Index: 7.7100 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: 0.2476
Cell Significance Index: 42.2800 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 0.2433
Cell Significance Index: 12.6400 - Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.2207
Cell Significance Index: 2.2900 - Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: 0.1975
Cell Significance Index: 23.3000 - Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 0.1943
Cell Significance Index: 4.0300 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.1911
Cell Significance Index: 34.4500 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: 0.1827
Cell Significance Index: 10.2500 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 0.1722
Cell Significance Index: 23.6500 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 0.1608
Cell Significance Index: 19.7700 - Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: 0.1564
Cell Significance Index: 5.0100 - Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: 0.1562
Cell Significance Index: 69.0500 - Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 0.1252
Cell Significance Index: 86.6100 - Cell Name: Purkinje cell (CL0000121)
Fold Change: 0.1041
Cell Significance Index: 2.2800 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: 0.1006
Cell Significance Index: 4.4500 - Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: 0.0993
Cell Significance Index: 3.7600 - Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.0959
Cell Significance Index: 18.2500 - Cell Name: sebum secreting cell (CL0000317)
Fold Change: 0.0878
Cell Significance Index: 6.2100 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.0751
Cell Significance Index: 2.6400 - Cell Name: skeletal muscle myoblast (CL0000515)
Fold Change: 0.0580
Cell Significance Index: 0.6300 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.0363
Cell Significance Index: 2.7900 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: 0.0355
Cell Significance Index: 54.6000 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: 0.0225
Cell Significance Index: 30.6400 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 0.0223
Cell Significance Index: 14.1400 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.0175
Cell Significance Index: 32.9600 - Cell Name: anterior lens cell (CL0002223)
Fold Change: 0.0137
Cell Significance Index: 25.3200 - Cell Name: lactocyte (CL0002325)
Fold Change: 0.0038
Cell Significance Index: 0.4900 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0022
Cell Significance Index: -1.0200 - Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0040
Cell Significance Index: -2.9900 - Cell Name: mesenchymal cell (CL0008019)
Fold Change: -0.0057
Cell Significance Index: -0.1000 - Cell Name: odontoblast (CL0000060)
Fold Change: -0.0080
Cell Significance Index: -1.0200 - Cell Name: early pro-B cell (CL0002046)
Fold Change: -0.0097
Cell Significance Index: -0.6300 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0102
Cell Significance Index: -7.5800 - Cell Name: hippocampal granule cell (CL0001033)
Fold Change: -0.0156
Cell Significance Index: -1.0500 - Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0162
Cell Significance Index: -10.1200 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0182
Cell Significance Index: -10.2900 - Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0184
Cell Significance Index: -13.5000 - Cell Name: interstitial cell of ovary (CL0002094)
Fold Change: -0.0219
Cell Significance Index: -0.2800 - Cell Name: lung endothelial cell (CL1001567)
Fold Change: -0.0230
Cell Significance Index: -1.2000 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.0233
Cell Significance Index: -1.7400 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.0368
Cell Significance Index: -1.7300 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0483
Cell Significance Index: -10.1700 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0569
Cell Significance Index: -16.3700 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.0580
Cell Significance Index: -6.7600 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.0617
Cell Significance Index: -7.0700 - Cell Name: peg cell (CL4033014)
Fold Change: -0.0684
Cell Significance Index: -1.5800 - Cell Name: abnormal cell (CL0001061)
Fold Change: -0.0697
Cell Significance Index: -7.1200 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0786
Cell Significance Index: -11.4200 - Cell Name: pancreatic endocrine cell (CL0008024)
Fold Change: -0.1191
Cell Significance Index: -13.5900 - Cell Name: forebrain neuroblast (CL1000042)
Fold Change: -0.1276
Cell Significance Index: -7.8400 - Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: -0.1393
Cell Significance Index: -1.9000 - Cell Name: cerebellar granule cell (CL0001031)
Fold Change: -0.1430
Cell Significance Index: -2.4500 - Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: -0.1596
Cell Significance Index: -3.9900 - Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: -0.1731
Cell Significance Index: -10.9100 - Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: -0.1765
Cell Significance Index: -4.7200 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.1777
Cell Significance Index: -18.5100 - Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: -0.2040
Cell Significance Index: -5.4700 - Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.2345
Cell Significance Index: -12.3100 - Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.2448
Cell Significance Index: -19.3900 - Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
Fold Change: -0.2448
Cell Significance Index: -7.1900 - Cell Name: hippocampal pyramidal neuron (CL1001571)
Fold Change: -0.2527
Cell Significance Index: -7.2100 - Cell Name: preadipocyte (CL0002334)
Fold Change: -0.2731
Cell Significance Index: -5.3300 - Cell Name: seromucus secreting cell (CL0000159)
Fold Change: -0.2759
Cell Significance Index: -5.7600 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.3383
Cell Significance Index: -20.7400 - Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: -0.3538
Cell Significance Index: -7.5100 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.3716
Cell Significance Index: -11.8400 - Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: -0.3719
Cell Significance Index: -9.5600 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.3732
Cell Significance Index: -12.2200
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Other Information
Genular Protein ID: 4013727239
Symbol: P5CS_HUMAN
Name: Delta-1-pyrroline-5-carboxylate synthase
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 8761662
Title: Database cloning human delta 1-pyrroline-5-carboxylate synthetase (P5CS) cDNA: a bifunctional enzyme catalyzing the first 2 steps in proline biosynthesis.
PubMed ID: 8761662
PubMed ID: 10037775
Title: Molecular enzymology of mammalian delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibition.
PubMed ID: 10037775
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 15164054
Title: The DNA sequence and comparative analysis of human chromosome 10.
PubMed ID: 15164054
DOI: 10.1038/nature02462
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: 14654843
Title: Proteomic characterization of the human centrosome by protein correlation profiling.
PubMed ID: 14654843
DOI: 10.1038/nature02166
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 22170564
Title: Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine.
PubMed ID: 22170564
PubMed ID: 24767728
Title: Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.
PubMed ID: 24767728
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 26320891
Title: Recurrent de novo mutations affecting residue Arg138 of pyrroline-5-carboxylate synthase cause a progeroid form of autosomal-dominant cutis laxa.
PubMed ID: 26320891
PubMed ID: 26026163
Title: Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
PubMed ID: 26026163
DOI: 10.1093/brain/awv143
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
PubMed ID: 26297558
Title: ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
PubMed ID: 26297558
DOI: 10.1093/brain/awv247
PubMed ID: 11092761
Title: Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase.
PubMed ID: 11092761
PubMed ID: 18478038
Title: A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.
PubMed ID: 18478038
DOI: 10.1038/ejhg.2008.91
Sequence Information:
- Length: 795
- Mass: 87302
- Checksum: 8BF27EF2A8FB2D79
- Sequence:
MLSQVYRCGF QPFNQHLLPW VKCTTVFRSH CIQPSVIRHV RSWSNIPFIT VPLSRTHGKS FAHRSELKHA KRIVVKLGSA VVTRGDECGL ALGRLASIVE QVSVLQNQGR EMMLVTSGAV AFGKQRLRHE ILLSQSVRQA LHSGQNQLKE MAIPVLEARA CAAAGQSGLM ALYEAMFTQY SICAAQILVT NLDFHDEQKR RNLNGTLHEL LRMNIVPIVN TNDAVVPPAE PNSDLQGVNV ISVKDNDSLA ARLAVEMKTD LLIVLSDVEG LFDSPPGSDD AKLIDIFYPG DQQSVTFGTK SRVGMGGMEA KVKAALWALQ GGTSVVIANG THPKVSGHVI TDIVEGKKVG TFFSEVKPAG PTVEQQGEMA RSGGRMLATL EPEQRAEIIH HLADLLTDQR DEILLANKKD LEEAEGRLAA PLLKRLSLST SKLNSLAIGL RQIAASSQDS VGRVLRRTRI AKNLELEQVT VPIGVLLVIF ESRPDCLPQV AALAIASGNG LLLKGGKEAA HSNRILHLLT QEALSIHGVK EAVQLVNTRE EVEDLCRLDK MIDLIIPRGS SQLVRDIQKA AKGIPVMGHS EGICHMYVDS EASVDKVTRL VRDSKCEYPA ACNALETLLI HRDLLRTPLF DQIIDMLRVE QVKIHAGPKF ASYLTFSPSE VKSLRTEYGD LELCIEVVDN VQDAIDHIHK YGSSHTDVIV TEDENTAEFF LQHVDSACVF WNASTRFSDG YRFGLGAEVG ISTSRIHARG PVGLEGLLTT KWLLRGKDHV VSDFSEHGSL KYLHENLPIP QRNTN
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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.