Details for: ALDH7A1

Gene ID: 501

Symbol: ALDH7A1

Ensembl ID: ENSG00000164904

Description: aldehyde dehydrogenase 7 family member A1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 2.68
    Marker Score: 1561
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 2.5
    Marker Score: 2057
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.32
    Marker Score: 49433
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 2.24
    Marker Score: 8790
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 2.06
    Marker Score: 2336
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.67
    Marker Score: 3496
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.58
    Marker Score: 1969
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.55
    Marker Score: 1710
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 1.52
    Marker Score: 5877
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 1.51
    Marker Score: 1417
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.5
    Marker Score: 1587
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.48
    Marker Score: 6177
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.47
    Marker Score: 5235
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 1.47
    Marker Score: 969
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 167508
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.44
    Marker Score: 422
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 1.44
    Marker Score: 793
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.44
    Marker Score: 2768
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.42
    Marker Score: 1834
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.42
    Marker Score: 5250
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 1.41
    Marker Score: 10515
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.4
    Marker Score: 936
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.38
    Marker Score: 1190
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.37
    Marker Score: 47502
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 1.33
    Marker Score: 2264
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.33
    Marker Score: 5740
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.33
    Marker Score: 1531
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.32
    Marker Score: 3130
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.31
    Marker Score: 3579
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.31
    Marker Score: 1375
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.3
    Marker Score: 1634
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 1.3
    Marker Score: 17180
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.3
    Marker Score: 1385
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.28
    Marker Score: 11056
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.25
    Marker Score: 1083
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.25
    Marker Score: 47363
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.24
    Marker Score: 1831
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.24
    Marker Score: 2832
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.24
    Marker Score: 1320
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.24
    Marker Score: 10622
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.23
    Marker Score: 2497
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.22
    Marker Score: 1080
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 1.2
    Marker Score: 402
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 1.19
    Marker Score: 747
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.19
    Marker Score: 1436
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.18
    Marker Score: 7699
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 1.17
    Marker Score: 1926
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.17
    Marker Score: 2756.5
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.16
    Marker Score: 23119
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 1.15
    Marker Score: 327
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.15
    Marker Score: 270
  • Cell Name: theca cell (CL0000503)
    Fold Change: 1.15
    Marker Score: 823
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.11
    Marker Score: 12537
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 1.11
    Marker Score: 256
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.1
    Marker Score: 319
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.1
    Marker Score: 1484
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.09
    Marker Score: 10368
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 1.09
    Marker Score: 632
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.08
    Marker Score: 11192
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.08
    Marker Score: 2364.5
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 1.07
    Marker Score: 1488
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.04
    Marker Score: 3411
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.04
    Marker Score: 1080
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.04
    Marker Score: 4301
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.03
    Marker Score: 63326
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 1.03
    Marker Score: 1579
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.02
    Marker Score: 10266
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.02
    Marker Score: 1096
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 1.01
    Marker Score: 4230.5
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.01
    Marker Score: 6521
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.01
    Marker Score: 702
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71735
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47959
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 1
    Marker Score: 1202
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.99
    Marker Score: 4051
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.99
    Marker Score: 1756
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.99
    Marker Score: 2322
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30398
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.98
    Marker Score: 2618
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.98
    Marker Score: 197
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.97
    Marker Score: 3750
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.96
    Marker Score: 725
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.96
    Marker Score: 494
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.96
    Marker Score: 354
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.95
    Marker Score: 448
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2407
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.94
    Marker Score: 884
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.94
    Marker Score: 523
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.93
    Marker Score: 14570
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.92
    Marker Score: 7082
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.92
    Marker Score: 996
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5269
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.92
    Marker Score: 8654
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.92
    Marker Score: 454
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.92
    Marker Score: 1492
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2735
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.9
    Marker Score: 496
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.9
    Marker Score: 908
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.89
    Marker Score: 1102
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.89
    Marker Score: 13331

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Other Information

**Key characteristics:** * ALDH7A1 is a transmembrane protein with a molecular weight of approximately 150 kDa. * It is a member of the aldehyde dehydrogenase (NAD+) superfamily of enzymes. * ALDH7A1 is expressed in high levels in the brain, particularly in areas involved in vision, cognition, and metabolism. **Pathways and functions:** * ALDH7A1 is involved in the metabolism of aldehydes and other molecules, including choline, glycine betaine, and lysine. * It is a key enzyme in the choline catabolic process and the metabolism of amino acids and derivatives. * ALDH7A1 also plays a role in the detoxification of harmful substances, such as aldehydes and ketones. **Clinical significance:** * Mutations in the ALDH7A1 gene have been linked to several eye diseases, including retinal dystrophy, diabetic retinopathy, and macular degeneration. * ALDH7A1 is a potential therapeutic target for these diseases. * Inhibition of ALDH7A1 has been shown to protect cells from damage caused by aldehydes and other harmful substances. **Additional notes:** * ALDH7A1 is a highly conserved protein, with similar genes found in other mammals. * It is a ubiquitin-dependent protein, meaning that it is targeted for degradation by the proteasome when it is no longer needed. * ALDH7A1 is a promising target for the treatment of eye diseases that are caused by aldehydes and other harmful substances.

Genular Protein ID: 1113889635

Symbol: AL7A1_HUMAN

Name: Aldehyde dehydrogenase family 7 member A1

UniProtKB Accession Codes:

P49419 B2R669 B4DIC7 B4DMA0 E7EPT3 O14619 Q6IPU8 Q9BUL4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 2 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CPTAC 2 CTD 1 ChEBI 57 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EC 3 EMBL 10 EPD 1 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 14 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 2 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 30 PDBsum 20 PIR 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 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 3 Rhea 16 SABIO-RK 1 SASBDB 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCD-2DPAGE 1 UCSC 1 UniPathway 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8088832

Title: Homology between a human protein and a protein of the green garden pea.

PubMed ID: 8088832

DOI: 10.1006/geno.1994.1279

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

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: 9417906

Title: An ancient conserved gene expressed in the human inner ear: identification, expression analysis, and chromosomal mapping of human and mouse antiquitin (ATQ1).

PubMed ID: 9417906

DOI: 10.1006/geno.1997.5026

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21338592

Title: Aldehyde dehydrogenase 7A1 (ALDH7A1) attenuates reactive aldehyde and oxidative stress induced cytotoxicity.

PubMed ID: 21338592

DOI: 10.1016/j.cbi.2011.02.016

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

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: 20207735

Title: Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress.

PubMed ID: 20207735

DOI: 10.1074/jbc.m109.077925

PubMed ID: 26260980

Title: Structural Basis of Substrate Recognition by Aldehyde Dehydrogenase 7A1.

PubMed ID: 26260980

DOI: 10.1021/acs.biochem.5b00754

PubMed ID: 16491085

Title: Mutations in antiquitin in individuals with pyridoxine-dependent seizures.

PubMed ID: 16491085

DOI: 10.1038/nm1366

PubMed ID: 17068770

Title: Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.

PubMed ID: 17068770

DOI: 10.1002/humu.20433

Sequence Information:

  • Length: 539
  • Mass: 58487
  • Checksum: 05385562F71312B6
  • Sequence:
    • MWRLPRALCV HAAKTSKLSG PWSRPAAFMS TLLINQPQYA WLKELGLREE NEGVYNGSWG 
GRGEVITTYC PANNEPIARV RQASVADYEE TVKKAREAWK IWADIPAPKR GEIVRQIGDA 
LREKIQVLGS LVSLEMGKIL VEGVGEVQEY VDICDYAVGL SRMIGGPILP SERSGHALIE 
QWNPVGLVGI ITAFNFPVAV YGWNNAIAMI CGNVCLWKGA PTTSLISVAV TKIIAKVLED 
NKLPGAICSL TCGGADIGTA MAKDERVNLL SFTGSTQVGK QVGLMVQERF GRSLLELGGN 
NAIIAFEDAD LSLVVPSALF AAVGTAGQRC TTARRLFIHE SIHDEVVNRL KKAYAQIRVG 
NPWDPNVLYG PLHTKQAVSM FLGAVEEAKK EGGTVVYGGK VMDRPGNYVE PTIVTGLGHD 
ASIAHTETFA PILYVFKFKN EEEVFAWNNE VKQGLSSSIF TKDLGRIFRW LGPKGSDCGI 
VNVNIPTSGA EIGGAFGGEK HTGGGRESGS DAWKQYMRRS TCTINYSKDL PLAQGIKFQ

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. For the full schema, download it here.