Details for: ALDH18A1

Gene ID: 5832

Symbol: ALDH18A1

Ensembl ID: ENSG00000059573

Description: aldehyde dehydrogenase 18 family member A1

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

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
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.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
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.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
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

**Key Characteristics:** ALDH18A1 shares structural homology with other aldehyde dehydrogenases, which catalyze the oxidation of aldehydes to their corresponding carboxylic acids. The gene's protein product, P5CS_HUMAN, is a delta-1-pyrroline-5-carboxylate synthase, a crucial enzyme in the biosynthesis of proline, a non-essential amino acid. This enzyme is also involved in the degradation of proteins and the metabolism of glutamate. The gene's expression pattern, with significant levels in salivary gland acinar cells, germ cells, and enterocytes, suggests a specialized role in these tissues. **Pathways and Functions:** ALDH18A1 is implicated in a range of metabolic pathways, including: 1. **Proline biosynthesis:** As a delta-1-pyrroline-5-carboxylate synthase, P5CS_HUMAN is essential for the production of proline, a key component of collagen and elastin. 2. **Glutamate metabolism:** ALDH18A1's involvement in glutamate metabolic processes highlights its role in the regulation of neurotransmitter synthesis and degradation. 3. **Amino acid metabolism:** The gene's expression in enterocytes and germ cells suggests a role in the metabolism of amino acids, including glutamate and proline. 4. **Protein degradation:** ALDH18A1's involvement in protein degradation pathways underscores its potential role in maintaining protein homeostasis. **Clinical Significance:** The expression of ALDH18A1 in cardiac muscle cells and dopaminergic neurons highlights its potential implications for cardiovascular and neurological disorders. For instance: 1. **Cardiovascular disease:** Altered proline metabolism has been linked to cardiovascular disease, and ALDH18A1's role in proline biosynthesis may contribute to disease progression. 2. **Neurological disorders:** The gene's expression in dopaminergic neurons suggests a potential link to Parkinson's disease, where impaired glutamate metabolism has been implicated. 3. **Cancer:** ALDH18A1's expression in colon epithelial cells and enterocytes may contribute to cancer development, as aberrant amino acid metabolism has been linked to tumorigenesis. In conclusion, ALDH18A1 is a gene of intricate metabolic and immunological significance, with implications for cardiovascular and neurological disorders. Further research is necessary to elucidate the gene's precise mechanisms of action and its clinical significance in various disease contexts.

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

DOI: 10.1074/jbc.274.10.6754

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

DOI: 10.1186/1752-0509-5-17

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

DOI: 10.1007/s10545-011-9411-8

PubMed ID: 24767728

Title: Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.

PubMed ID: 24767728

DOI: 10.1016/j.ejpn.2014.01.003

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: 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

DOI: 10.1016/j.ajhg.2015.08.001

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

DOI: 10.1002/pmic.201400617

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

DOI: 10.1093/hmg/9.19.2853

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.