Gene: Aldh1a2

Basic information

Tag Content
Uniprot ID Q62148; Q6DI79;
Entrez ID 19378
Genbank protein ID AAH75704.1; BAC37332.1; CAA67666.1;
Genbank nucleotide ID NM_009022.4
Ensembl protein ID ENSMUSP00000034723
Ensembl nucleotide ID ENSMUSG00000013584
Gene name Retinal dehydrogenase 2
Gene symbol Aldh1a2
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO,CLO
Developmental stage
Data sources Manually collected
Reference 17184764
Functional description Converts retinaldehyde to retinoic acid (PubMed:8797830). Recognizes as substrates free retinal and cellular retinol-binding protein-bound retinal (By similarity). Lacks activity with benzaldehyde, acetaldehyde and octanal (PubMed:8797830). Displays complete lack of activity with citral (By similarity).
Sequence
MTSSEIAMPG EVKADPAALM ASLQLLPSPT PNLEIKYTKI FINNEWQNSE SGRVFPVCNP 60
ATGEQVCEVQ EADKVDIDKA VQAARLAFSL GSVWRRMDAS ERGRLLDKLA DLVERDRATL 120
ATMESLNGGK PFLQAFYIDL QGVIKTLRYY AGWADKIHGM TIPVDGDYFT FTRHEPIGVC 180
GQIIPWNFPL LMFTWKIAPA LCCGNTVVIK PAEQTPLSAL YMGALIKEAG FPPGVVNILP 240
GYGPTAGAAI ASHIGIDKIA FTGSTEVGKL IQEAAGRSNL KRVTLELGGK SPNIIFADAD 300
LDYAVEQAHQ GVFFNQGQCC TAGSRIFVEE SIYEEFVKRS VERAKRRIVG SPFDPTTEQG 360
PQIDKKQYNK VLELIQSGVA EGAKLECGGK GLGRKGFFIE PTVFSNVTDD MRIAKEEIFG 420
PVQEILRFKT MDEVIERANN SDFGLVAAVF TNDINKALMV SSAMQAGTVW INCYNALNAQ 480
SPFGGFKMSG NGREMGEFGL REYSEVKTVT VKIPQKNS 518

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologALDH1A2478319F1PGT3Canis lupus familiarisPredictionMore>>
1:1 orthologALDH1A2102181689A0A452G5H4Capra hircusPredictionMore>>
1:1 orthologALDH1A2100054550F7CVL4Equus caballusPredictionMore>>
1:1 orthologALDH1A28854O94788Homo sapiensPredictionMore>>
1:1 orthologAldh1a219378Q62148CPO,CLOMus musculusPublicationMore>>
1:1 orthologALDH1A2A0A2I3SDX9Pan troglodytesPredictionMore>>
1:1 orthologALDH1A2I3LK62Sus scrofaPredictionMore>>
1:1 orthologALDH1A2G1TCP3Oryctolagus cuniculusPredictionMore>>
1:1 orthologAldh1a2116676Q63639Rattus norvegicusPredictionMore>>
1:1 orthologaldh1a2Q90Y03Danio rerioPredictionMore>>

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0001758 retinal dehydrogenase activityISO
GO:0001758 retinal dehydrogenase activityIDA
GO:0004028 3-chloroallyl aldehyde dehydrogenase activityIDA
GO:0004029 aldehyde dehydrogenase (NAD+) activityIBA
GO:0016918 retinal bindingISO

GO:Biological Process

GO ID GO Term Evidence
GO:0001523 retinoid metabolic processTAS
GO:0001568 blood vessel developmentIMP
GO:0001822 kidney developmentIEA
GO:0001889 liver developmentIEA
GO:0001936 regulation of endothelial cell proliferationIMP
GO:0001947 heart loopingTAS
GO:0002138 retinoic acid biosynthetic processISO
GO:0003007 heart morphogenesisIMP
GO:0007494 midgut developmentIEA
GO:0007507 heart developmentTAS
GO:0008284 positive regulation of cell population proliferationIMP
GO:0008285 negative regulation of cell population proliferationISO
GO:0009855 determination of bilateral symmetryIMP
GO:0009952 anterior/posterior pattern specificationIMP
GO:0009952 anterior/posterior pattern specificationIGI
GO:0009954 proximal/distal pattern formationIMP
GO:0010628 positive regulation of gene expressionIMP
GO:0014032 neural crest cell developmentIMP
GO:0014032 neural crest cell developmentIGI
GO:0016331 morphogenesis of embryonic epitheliumIMP
GO:0021915 neural tube developmentISO
GO:0021983 pituitary gland developmentIEA
GO:0030182 neuron differentiationIMP
GO:0030324 lung developmentIMP
GO:0030326 embryonic limb morphogenesisIMP
GO:0030900 forebrain developmentIMP
GO:0030902 hindbrain developmentIMP
GO:0031016 pancreas developmentIMP
GO:0031076 embryonic camera-type eye developmentIGI
GO:0032355 response to estradiolIEA
GO:0033189 response to vitamin AIEA
GO:0034097 response to cytokineISO
GO:0035115 embryonic forelimb morphogenesisIMP
GO:0035799 ureter maturationIMP
GO:0042572 retinol metabolic processIEA
GO:0042573 retinoic acid metabolic processISO
GO:0042573 retinoic acid metabolic processIMP
GO:0042573 retinoic acid metabolic processIDA
GO:0042574 retinal metabolic processIDA
GO:0042904 9-cis-retinoic acid biosynthetic processIDA
GO:0043010 camera-type eye developmentIMP
GO:0043065 positive regulation of apoptotic processIMP
GO:0048384 retinoic acid receptor signaling pathwayIMP
GO:0048384 retinoic acid receptor signaling pathwayIGI
GO:0048566 embryonic digestive tract developmentIMP
GO:0048738 cardiac muscle tissue developmentIMP
GO:0051289 protein homotetramerizationISS
GO:0051289 protein homotetramerizationISO
GO:0055114 oxidation-reduction processIEA
GO:0060324 face developmentIGI
GO:0060324 face developmentIMP
GO:0071300 cellular response to retinoic acidIEP
GO:0090242 retinoic acid receptor signaling pathway involved in somitogenesisIGI
GO:0090242 retinoic acid receptor signaling pathway involved in somitogenesisIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005737 cytoplasmISO
GO:0005829 cytosolISO
GO:0048471 perinuclear region of cytoplasmISO

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-162582 Signal TransductionIEA
R-MMU-5362517 Signaling by Retinoic AcidIEA
R-MMU-5365859 RA biosynthesis pathwayIEA
R-MMU-9006931 Signaling by Nuclear ReceptorsIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0963 Cytoplasm
KW-0520 NAD
KW-0560 Oxidoreductase
KW-0597 Phosphoprotein
KW-1185 Reference proteome

Interpro

InterPro ID InterPro Term
IPR016161 Ald_DH/histidinol_DH
IPR016163 Ald_DH_C
IPR016160 Ald_DH_CS_CYS
IPR029510 Ald_DH_CS_GLU
IPR016162 Ald_DH_N
IPR015590 Aldehyde_DH_dom

PROSITE

PROSITE ID PROSITE Term
PS00070 ALDEHYDE_DEHYDR_CYS
PS00687 ALDEHYDE_DEHYDR_GLU

Pfam

Pfam ID Pfam Term
PF00171 Aldedh

Protein-miRNA interaction