Details for: ALDH4A1

Gene ID: 8659

Symbol: ALDH4A1

Ensembl ID: ENSG00000159423

Description: aldehyde dehydrogenase 4 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: 43.0100
    Cell Significance Index: -6.6900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 29.7268
    Cell Significance Index: -7.5400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 18.0181
    Cell Significance Index: -7.3200
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 7.6984
    Cell Significance Index: -7.3500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 6.1965
    Cell Significance Index: -7.6400
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 3.0050
    Cell Significance Index: -8.0500
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 2.7915
    Cell Significance Index: 46.0000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 2.7077
    Cell Significance Index: 166.0100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 1.9868
    Cell Significance Index: -7.8400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.7273
    Cell Significance Index: 89.7300
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.4238
    Cell Significance Index: 11.7800
  • Cell Name: liver dendritic cell (CL2000055)
    Fold Change: 1.2965
    Cell Significance Index: 3.4200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.8869
    Cell Significance Index: 24.1400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.7815
    Cell Significance Index: 140.8800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.7279
    Cell Significance Index: 72.0100
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.6629
    Cell Significance Index: 9.5000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.5953
    Cell Significance Index: 73.2000
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.5737
    Cell Significance Index: 8.4700
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.4972
    Cell Significance Index: 5.7800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4687
    Cell Significance Index: 423.2400
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.4431
    Cell Significance Index: 4.0800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.4088
    Cell Significance Index: 59.4300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3741
    Cell Significance Index: 60.8500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.3288
    Cell Significance Index: 8.7800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3244
    Cell Significance Index: 35.2900
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.2788
    Cell Significance Index: 2.6500
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.2004
    Cell Significance Index: 1.6000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1864
    Cell Significance Index: 11.1900
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.1821
    Cell Significance Index: 1.5300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.1722
    Cell Significance Index: 2.3500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.1716
    Cell Significance Index: 20.0000
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.1680
    Cell Significance Index: 2.4800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.1601
    Cell Significance Index: 4.2900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1452
    Cell Significance Index: 10.0400
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.1279
    Cell Significance Index: 1.3900
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 0.1227
    Cell Significance Index: 0.4700
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.1170
    Cell Significance Index: 2.5000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.1118
    Cell Significance Index: 2.9900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.1075
    Cell Significance Index: 8.0200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1048
    Cell Significance Index: 19.9500
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.0983
    Cell Significance Index: 1.2600
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.0837
    Cell Significance Index: 0.6400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0720
    Cell Significance Index: 49.8200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0708
    Cell Significance Index: 31.3000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0702
    Cell Significance Index: 132.1000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0606
    Cell Significance Index: 12.1500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0472
    Cell Significance Index: 1.1800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0461
    Cell Significance Index: 16.5400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0404
    Cell Significance Index: 2.8600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0320
    Cell Significance Index: 2.0200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0309
    Cell Significance Index: 0.6700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0272
    Cell Significance Index: 17.2800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0271
    Cell Significance Index: 0.7800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0204
    Cell Significance Index: 11.1300
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.0139
    Cell Significance Index: 0.2400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0089
    Cell Significance Index: 6.5300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0083
    Cell Significance Index: 15.2700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0008
    Cell Significance Index: 0.0400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0009
    Cell Significance Index: -0.0300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0009
    Cell Significance Index: -1.3500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0033
    Cell Significance Index: -2.5200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0056
    Cell Significance Index: -7.5700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0062
    Cell Significance Index: -0.8500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0079
    Cell Significance Index: -0.6100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0115
    Cell Significance Index: -0.5200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0118
    Cell Significance Index: -8.7600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0134
    Cell Significance Index: -6.0700
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0135
    Cell Significance Index: -0.3500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0151
    Cell Significance Index: -8.4900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0168
    Cell Significance Index: -2.1700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0187
    Cell Significance Index: -1.9100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0188
    Cell Significance Index: -2.4100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0200
    Cell Significance Index: -12.4700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0217
    Cell Significance Index: -6.2500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0221
    Cell Significance Index: -0.4700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0245
    Cell Significance Index: -2.8900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0271
    Cell Significance Index: -2.1500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0276
    Cell Significance Index: -1.4400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0323
    Cell Significance Index: -0.5400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0337
    Cell Significance Index: -5.7600
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0416
    Cell Significance Index: -0.7000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0425
    Cell Significance Index: -2.7400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0468
    Cell Significance Index: -0.9800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0472
    Cell Significance Index: -5.4100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0475
    Cell Significance Index: -1.2200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0483
    Cell Significance Index: -10.1800
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0497
    Cell Significance Index: -1.0300
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: -0.0504
    Cell Significance Index: -0.2900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0530
    Cell Significance Index: -1.8400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0655
    Cell Significance Index: -6.8200
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0684
    Cell Significance Index: -1.1500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0733
    Cell Significance Index: -4.1200
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0768
    Cell Significance Index: -1.1000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0845
    Cell Significance Index: -3.9700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0931
    Cell Significance Index: -5.7200
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.1024
    Cell Significance Index: -1.0600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1263
    Cell Significance Index: -5.5900
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.1337
    Cell Significance Index: -1.2700
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1348
    Cell Significance Index: -3.9700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1373
    Cell Significance Index: -6.4000

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:** ALDH4A1 is a mitochondrial enzyme, specifically localized to the mitochondrial matrix, where it participates in the dehydrogenation of pyrroline-5-carboxylate, a key intermediate in proline catabolism. This process is crucial for the production of glutamate, an essential amino acid for various cellular functions. Additionally, ALDH4A1 is involved in the electron transport chain, regulating the flow of electrons and maintaining mitochondrial function. **Pathways and Functions:** ALDH4A1 is integral to several metabolic pathways, including: 1. **Pyrroline-5-carboxylate dehydrogenase activity:** This enzyme catalyzes the conversion of pyrroline-5-carboxylate to glutamate, a critical step in proline catabolism. 2. **Proline catabolic process:** ALDH4A1 is involved in the breakdown of proline, a semi-essential amino acid, to glutamate and other metabolites. 3. **Electron transport chain:** As a mitochondrial enzyme, ALDH4A1 contributes to the electron transport chain, regulating the flow of electrons and maintaining mitochondrial function. 4. **Glyoxylate metabolism and glycine degradation:** ALDH4A1 is also involved in the metabolism of glyoxylate and glycine, two key intermediates in these pathways. **Clinical Significance:** Dysregulation of ALDH4A1 has been implicated in various diseases, including: 1. **Metabolic disorders:** Alterations in proline catabolism and electron transport chain regulation have been linked to metabolic disorders, such as diabetic ketoacidosis and mitochondrial myopathies. 2. **Immune-related conditions:** Abnormalities in ALDH4A1 expression and function have been associated with immune-related conditions, such as autoimmune diseases and immunodeficiency disorders. 3. **Cancer:** ALDH4A1 has been identified as a potential biomarker for cancer diagnosis and prognosis, particularly in epithelial cancers. In conclusion, ALDH4A1 is a critical enzyme involved in various metabolic pathways, including proline catabolism, electron transport chain regulation, and glyoxylate metabolism. Its dysregulation has significant implications for human health, underscoring the importance of further research into the molecular mechanisms underlying ALDH4A1 function and its role in disease.

Genular Protein ID: 2007207744

Symbol: AL4A1_HUMAN

Name: Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial

UniProtKB Accession Codes:

P30038 A8K1Q7 B4DGE4 D2D4A3 Q16882 Q53HU4 Q5JNV6 Q8IZ38 Q96IF0 Q9UDI6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 1 CPTAC 2 CTD 1 CarbonylDB 1 ChEBI 10 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 2 EMBL 12 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 11 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OGP 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 6 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 2 RefSeq 4 Rhea 1 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8621661

Title: Cloning, characterization, and expression of cDNAs encoding human delta 1-pyrroline-5-carboxylate dehydrogenase.

PubMed ID: 8621661

DOI: 10.1074/jbc.271.16.9795

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 1395511

Title: Human liver glutamic gamma-semialdehyde dehydrogenase: structural relationship to the yeast enzyme.

PubMed ID: 1395511

DOI: 10.1016/0305-0491(92)90081-2

PubMed ID: 1286669

Title: Human liver protein map: a reference database established by microsequencing and gel comparison.

PubMed ID: 1286669

DOI: 10.1002/elps.11501301201

PubMed ID: 8493898

Title: Human liver high Km aldehyde dehydrogenase (ALDH4): properties and structural relationship to the glutamic gamma-semialdehyde dehydrogenase.

PubMed ID: 8493898

DOI: 10.1007/978-1-4615-2904-0_21

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

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: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 22516612

Title: The three-dimensional structural basis of type II hyperprolinemia.

PubMed ID: 22516612

DOI: 10.1016/j.jmb.2012.04.010

PubMed ID: 9700195

Title: Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia.

PubMed ID: 9700195

DOI: 10.1093/hmg/7.9.1411

Sequence Information:

  • Length: 563
  • Mass: 61719
  • Checksum: 4D964771B7DB5FFD
  • Sequence:
    • MLLPAPALRR ALLSRPWTGA GLRWKHTSSL KVANEPVLAF TQGSPERDAL QKALKDLKGR 
MEAIPCVVGD EEVWTSDVQY QVSPFNHGHK VAKFCYADKS LLNKAIEAAL AARKEWDLKP 
IADRAQIFLK AADMLSGPRR AEILAKTMVG QGKTVIQAEI DAAAELIDFF RFNAKYAVEL 
EGQQPISVPP STNSTVYRGL EGFVAAISPF NFTAIGGNLA GAPALMGNVV LWKPSDTAML 
ASYAVYRILR EAGLPPNIIQ FVPADGPLFG DTVTSSEHLC GINFTGSVPT FKHLWKQVAQ 
NLDRFHTFPR LAGECGGKNF HFVHRSADVE SVVSGTLRSA FEYGGQKCSA CSRLYVPHSL 
WPQIKGRLLE EHSRIKVGDP AEDFGTFFSA VIDAKSFARI KKWLEHARSS PSLTILAGGK 
CDDSVGYFVE PCIVESKDPQ EPIMKEEIFG PVLSVYVYPD DKYKETLQLV DSTTSYGLTG 
AVFSQDKDVV QEATKVLRNA AGNFYINDKS TGSIVGQQPF GGARASGTND KPGGPHYILR 
WTSPQVIKET HKPLGDWSYA YMQ

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.