Details for: ALDH1A3

Gene ID: 220

Symbol: ALDH1A3

Ensembl ID: ENSG00000184254

Description: aldehyde dehydrogenase 1 family member A3

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: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 2.91
    Marker Score: 1695
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 2.76
    Marker Score: 2177
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 2.46
    Marker Score: 874
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 2.04
    Marker Score: 6042
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.79
    Marker Score: 4377
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.75
    Marker Score: 2583
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 1.64
    Marker Score: 1576
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 1.64
    Marker Score: 1116
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.57
    Marker Score: 6791
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.48
    Marker Score: 1559
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168692
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 1.42
    Marker Score: 11998
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 1.39
    Marker Score: 688
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.39
    Marker Score: 649.5
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 1.38
    Marker Score: 1174
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.37
    Marker Score: 1260
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.35
    Marker Score: 855
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.34
    Marker Score: 2380.5
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.32
    Marker Score: 14853
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.29
    Marker Score: 2939
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.26
    Marker Score: 365
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 1.25
    Marker Score: 317
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.24
    Marker Score: 840
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 1.18
    Marker Score: 492
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 1.08
    Marker Score: 561
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.07
    Marker Score: 494
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 1.07
    Marker Score: 337.5
  • Cell Name: club cell (CL0000158)
    Fold Change: 1.04
    Marker Score: 1214
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71790
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48014.5
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30406
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.97
    Marker Score: 500
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.96
    Marker Score: 454
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2409
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 0.95
    Marker Score: 843.5
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.93
    Marker Score: 1701
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.92
    Marker Score: 367
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.91
    Marker Score: 947
  • Cell Name: fibroblast of connective tissue of prostate (CL1000299)
    Fold Change: 0.91
    Marker Score: 227
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2730
  • Cell Name: prostate stromal cell (CL0002622)
    Fold Change: 0.9
    Marker Score: 227
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.89
    Marker Score: 321
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.89
    Marker Score: 1800
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.88
    Marker Score: 5006
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5273
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: 0.85
    Marker Score: 293
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 0.85
    Marker Score: 4153
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.83
    Marker Score: 919
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.82
    Marker Score: 628
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.81
    Marker Score: 209
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.77
    Marker Score: 310
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1246
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 700
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.75
    Marker Score: 390
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.75
    Marker Score: 501
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.71
    Marker Score: 455
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.69
    Marker Score: 481
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 177
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2869.5
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.68
    Marker Score: 10642
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.66
    Marker Score: 713.5
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.65
    Marker Score: 628
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.62
    Marker Score: 157.5
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.61
    Marker Score: 255
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.6
    Marker Score: 315
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.6
    Marker Score: 738
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.59
    Marker Score: 1551
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.58
    Marker Score: 3497
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.56
    Marker Score: 250
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.56
    Marker Score: 148
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 0.55
    Marker Score: 131
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.54
    Marker Score: 172
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.54
    Marker Score: 654
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.53
    Marker Score: 539
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.53
    Marker Score: 680
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.52
    Marker Score: 310
  • Cell Name: adipose microvascular endothelial cell (CL2000072)
    Fold Change: 0.51
    Marker Score: 152
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 0.51
    Marker Score: 146
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.51
    Marker Score: 449
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5
    Marker Score: 363.5
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.5
    Marker Score: 146
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 0.49
    Marker Score: 677.5
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.49
    Marker Score: 16731
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.49
    Marker Score: 120
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.48
    Marker Score: 4145
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.48
    Marker Score: 194
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.47
    Marker Score: 195
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.46
    Marker Score: 260
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.45
    Marker Score: 133
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.45
    Marker Score: 214
  • Cell Name: mesenchymal lymphangioblast (CL0005021)
    Fold Change: 0.45
    Marker Score: 100
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.44
    Marker Score: 167
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.44
    Marker Score: 101
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.43
    Marker Score: 284
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.43
    Marker Score: 270.5
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.42
    Marker Score: 1454
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.42
    Marker Score: 1614
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.41
    Marker Score: 222
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.41
    Marker Score: 696

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Other Information

**Key characteristics:** * The ALDH1A3 gene is located on chromosome 17q25. * It is a large gene with a size of approximately 1.3 million base pairs. * The protein encoded by this gene is a transmembrane protein with a molecular weight of approximately 130 kDa. * It is a key enzyme in the biosynthesis of retinal, a pigment involved in the formation of the outer layer of the eye. **Pathways and functions:** * ALDH1A3 is involved in multiple pathways, including the retinal and visual pathways. * It is a key enzyme in the biosynthesis of retinal, a pigment involved in the formation of the outer layer of the eye. * It also plays a role in the apoptotic process, embryonic camera-type eye development, inner ear morphogenesis, and locomotory behavior. **Clinical significance:** * Mutations in the ALDH1A3 gene have been linked to several eye diseases, including retinitis pigmentosa, a degenerative eye disease characterized by the loss of vision due to retinal degeneration. * ALDH1A3 inhibitors are being investigated as potential treatments for retinal diseases.

Genular Protein ID: 3587866517

Symbol: AL1A3_HUMAN

Name: Retinaldehyde dehydrogenase 3

UniProtKB Accession Codes:

P47895 Q6NT64

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 23 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EC 2 EMBL 2 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 27 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 16 PDBsum 9 PIR 1 PRO 1 PROSITE 2 PROSITE-ProRule 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 Rhea 6 SAM 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7698756

Title: Molecular cloning, genomic organization, and chromosomal localization of an additional human aldehyde dehydrogenase gene, ALDH6.

PubMed ID: 7698756

DOI: 10.1006/geno.1994.1624

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: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23591992

Title: ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.

PubMed ID: 23591992

DOI: 10.1093/hmg/ddt179

PubMed ID: 27759097

Title: Crystal structure of human aldehyde dehydrogenase 1A3 complexed with NAD(+) and retinoic acid.

PubMed ID: 27759097

DOI: 10.1038/srep35710

PubMed ID: 23312594

Title: ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.

PubMed ID: 23312594

DOI: 10.1016/j.ajhg.2012.12.003

PubMed ID: 23646827

Title: Mutations in ALDH1A3 cause Microphthalmia.

PubMed ID: 23646827

DOI: 10.1111/cge.12184

PubMed ID: 24568872

Title: Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.

PubMed ID: 24568872

DOI: 10.1136/bjophthalmol-2013-304058

PubMed ID: 24024553

Title: A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.

PubMed ID: 24024553

DOI: 10.1111/cge.12277

PubMed ID: 23881059

Title: A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred.

PubMed ID: 23881059

DOI: 10.1038/ejhg.2013.157

PubMed ID: 24777706

Title: Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.

PubMed ID: 24777706

DOI: 10.1002/humu.22580

Sequence Information:

  • Length: 512
  • Mass: 56108
  • Checksum: 1BFCF4F56F0FE89A
  • Sequence:
    • MATANGAVEN GQPDRKPPAL PRPIRNLEVK FTKIFINNEW HESKSGKKFA TCNPSTREQI 
CEVEEGDKPD VDKAVEAAQV AFQRGSPWRR LDALSRGRLL HQLADLVERD RATLAALETM 
DTGKPFLHAF FIDLEGCIRT LRYFAGWADK IQGKTIPTDD NVVCFTRHEP IGVCGAITPW 
NFPLLMLVWK LAPALCCGNT MVLKPAEQTP LTALYLGSLI KEAGFPPGVV NIVPGFGPTV 
GAAISSHPQI NKIAFTGSTE VGKLVKEAAS RSNLKRVTLE LGGKNPCIVC ADADLDLAVE 
CAHQGVFFNQ GQCCTAASRV FVEEQVYSEF VRRSVEYAKK RPVGDPFDVK TEQGPQIDQK 
QFDKILELIE SGKKEGAKLE CGGSAMEDKG LFIKPTVFSE VTDNMRIAKE EIFGPVQPIL 
KFKSIEEVIK RANSTDYGLT AAVFTKNLDK ALKLASALES GTVWINCYNA LYAQAPFGGF 
KMSGNGRELG EYALAEYTEV KTVTIKLGDK NP

Genular Protein ID: 732464347

Symbol: H0Y2X5_HUMAN

Name: N/A

UniProtKB Accession Codes:

H0Y2X5

Database IDs:

Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 3 EPD 1 Ensembl 2 GO 1 GeneTree 1 GenomeRNAi 1 HGNC 1 InterPro 6 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 2 PROSITE-ProRule 1 Pfam 2 Proteomes 2 ProteomicsDB 1 RefSeq 1 RuleBase 1 SAM 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 16572171

Title: Analysis of the DNA sequence and duplication history of human chromosome 15.

PubMed ID: 16572171

DOI: 10.1038/nature04601

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

Sequence Information:

  • Length: 405
  • Mass: 44256
  • Checksum: CE65AE95A0149C63
  • Sequence:
    • MATANGAVEN GQPDRKPPAL PRPIRNLEVK FTKIFINNEW HESKSGKKFA TCNPSTREQI 
CEVEEGDKPD VDKAVEAAQV AFQRGSPWRR LDALSRGRLL HQLADLVERD RATLAAGFPP 
GVVNIVPGFG PTVGAAISSH PQINKIAFTG STEVGKLVKE AASRSNLKRV TLELGGKNPC 
IVCADADLDL AVECAHQGVF FNQGQCCTAA SRVFVEEQVY SEFVRRSVEY AKKRPVGDPF 
DVKTEQGPQI DQKQFDKILE LIESGKKEGA KLECGGSAME DKGLFIKPTV FSEVTDNMRI 
AKEEIFGPVQ PILKFKSIEE VIKRANSTDY GLTAAVFTKN LDKALKLASA LESGTVWINC 
YNALYAQAPF GGFKMSGNGR ELGEYALAEY TEVKTVTIKL GDKNP

Genular Protein ID: 3225247372

Symbol: Q7Z3A2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q7Z3A2

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 EMBL 2 GO 1 GenomeRNAi 1 InterPro 6 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 2 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 2 RefSeq 1 RuleBase 1 SAM 1 SUPFAM 1

Sequence Information:

  • Length: 416
  • Mass: 45435
  • Checksum: BBF5DB0FA5C68D6D
  • Sequence:
    • RAPRARERGG AMATANGAVE NGQPDRKPPA LPRPIRNLEV KFTKIFINNE WHESKSGKKF 
ATCNPSTREQ ICEVEEGDKP DVDKAVEAAQ VAFQRGSPWR RLDALSRGRL LHQLADLVER 
DRATLAAGFP PGVVNIVPGF GPTVGAAISS HPQINKIAFT GSTEVGKLVK EAASRSNLKR 
VTLELGGKNP CIVCADADLD LAVECAHQGV FFNQGQCCTA ASRVFVEEQV YSEFVRRSVE 
YAKKRPVGDP FDVKTEQGPQ IDQKQFDKIL ELIESGKKEG AKLECGGSAM EDKGLFIKPT 
VFSEVTDNMR IAKEEIFGPV QPILKFKSIE EVIKRANSTD YGLTAAVFTK NLDKALKLAS 
ALESGTVWIN CYNALYAQAP FGGFKMSGNG RELGEYALAE YTEVKTVTIK LGDKNP

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.