Gene: Aldh1a3

Basic information

Tag Content
Uniprot ID Q9JHW9; Q9EQP7; Q9JI72;
Entrez ID 56847
Genbank protein ID AAH58277.1; AAF67736.1; AAG38488.1; AAG33935.1; AAF86980.1;
Genbank nucleotide ID NM_053080.3
Ensembl protein ID ENSMUSP00000015278
Ensembl nucleotide ID ENSMUSG00000015134
Gene name Aldehyde dehydrogenase family 1 member A3
Gene symbol Aldh1a3
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO,CLO
Developmental stage
Data sources Manually collected
Reference 17184764
Functional description NAD-dependent aldehyde dehydrogenase that catalyzes the formation of retinoic acid (PubMed:11044606, PubMed:11013254, PubMed:14623956). Has high activity with all-trans retinal, and has much lower in vitro activity with acetaldehyde (By similarity). Required for the biosynthesis of normal levels of retinoic acid in the embryonic ocular and nasal regions; retinoic acid is required for normal embryonic development of the eye and the nasal region (PubMed:14623956).
Sequence
MATTNGAVEN GQPDGKPPAL PRPIRNLEVK FTKIFINNDW HESKSGRKFA TYNPSTLEKI 60
CEVEEGDKPD VDKAVEAAQA AFQRGSPWRR LDALSRGQLL HQLADLVERD RAILATLETM 120
DTGKPFLHAF FVDLEGCIKT FRYFAGWADK IQGRTIPTDD NVVCFTRHEP IGVCGAITPW 180
NFPLLMLAWK LAPALCCGNT VVLKPAEQTP LTALYLASLI KEVGFPPGVV NIVPGFGPTV 240
GAAISSHPQI NKIAFTGSTE VGKLVREAAS RSNLKRVTLE LGGKNPCIVC ADADLDLAVE 300
CAHQGVFFNQ GQCCTAASRV FVEEQVYGEF VRRSVEFAKK RPVGDPFDAK TEQGPQIDQK 360
QFDKILELIE SGKKEGAKLE CGGSAMEDRG LFIKPTVFSD VTDNMRIAKE EIFGPVQPIL 420
KFKNLEEVIK RANSTDYGLT AAVFTKNLDK ALKLAAALES GTVWINCYNA FYAQAPFGGF 480
KMSGNGRELG EYALAEYTEV KTVTIKLEEK NP 512

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 orthologALDH1A3100856346E2R543Canis lupus familiarisPredictionMore>>
1:1 orthologALDH1A3102179885A0A452FFP9Capra hircusPredictionMore>>
1:1 orthologALDH1A3100057072F6Y0Q6Equus caballusPredictionMore>>
1:1 orthologALDH1A3220P47895Homo sapiensPredictionMore>>
1:1 orthologAldh1a356847Q9JHW9CPO,CLOMus musculusPublicationMore>>
1:1 orthologALDH1A3453686H2QA58Pan troglodytesPredictionMore>>
1:1 orthologALDH1A3A0A480JMD7Sus scrofaPredictionMore>>
1:1 orthologG1SU45Oryctolagus cuniculusPredictionMore>>
1:1 orthologAldh1a3A0A0G2JUS6Rattus norvegicusPredictionMore>>
1:1 orthologaldh1a3751785Q0H2G3Danio rerioPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0001758 retinal dehydrogenase activityISS
GO:0001758 retinal dehydrogenase activityISO
GO:0004028 3-chloroallyl aldehyde dehydrogenase activityTAS
GO:0004029 aldehyde dehydrogenase (NAD+) activityIDA
GO:0004029 aldehyde dehydrogenase (NAD+) activityIBA
GO:0004030 aldehyde dehydrogenase [NAD(P)+] activityISO
GO:0004030 aldehyde dehydrogenase [NAD(P)+] activityIDA
GO:0042803 protein homodimerization activityISO
GO:0070324 thyroid hormone bindingIPI
GO:0070403 NAD+ bindingIDA

GO:Biological Process

GO ID GO Term Evidence
GO:0002072 optic cup morphogenesis involved in camera-type eye developmentIGI
GO:0002138 retinoic acid biosynthetic processISO
GO:0002138 retinoic acid biosynthetic processIDA
GO:0002138 retinoic acid biosynthetic processIMP
GO:0007626 locomotory behaviorIMP
GO:0021768 nucleus accumbens developmentIMP
GO:0031076 embryonic camera-type eye developmentIMP
GO:0031076 embryonic camera-type eye developmentIGI
GO:0042472 inner ear morphogenesisIMP
GO:0042572 retinol metabolic processIEA
GO:0042573 retinoic acid metabolic processISO
GO:0042573 retinoic acid metabolic processIGI
GO:0042573 retinoic acid metabolic processIMP
GO:0042574 retinal metabolic processISO
GO:0043065 positive regulation of apoptotic processIGI
GO:0043065 positive regulation of apoptotic processIMP
GO:0043584 nose developmentIMP
GO:0048048 embryonic eye morphogenesisIGI
GO:0048048 embryonic eye morphogenesisIMP
GO:0048386 positive regulation of retinoic acid receptor signaling pathwayISO
GO:0050885 neuromuscular process controlling balanceIMP
GO:0051289 protein homotetramerizationISS
GO:0051289 protein homotetramerizationISO
GO:0055114 oxidation-reduction processIEA
GO:0060013 righting reflexIMP
GO:0060166 olfactory pit developmentIMP
GO:0060324 face developmentIGI
GO:0070384 Harderian gland developmentIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005737 cytoplasmISO
GO:0005737 cytoplasmIDA

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-0007 Acetylation
KW-0963 Cytoplasm
KW-0520 NAD
KW-0560 Oxidoreductase
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
IPR012394 Aldehyde_DH_NAD(P)

PROSITE

PROSITE ID PROSITE Term
PS00070 ALDEHYDE_DEHYDR_CYS
PS00687 ALDEHYDE_DEHYDR_GLU

Pfam

Pfam ID Pfam Term
PF00171 Aldedh

Protein-protein interaction

Protein-miRNA interaction