Gene/Proteome Database (LMPD)

LMPD ID
LMP002047
Gene ID
220
Species
Homo sapiens (Human)
Gene Name
aldehyde dehydrogenase 1 family, member A3
Gene Symbol
ALDH1A3
Synonyms
ALDH1A6; ALDH6; MCOP8; RALDH3
Chromosome
15
Map Location
15q26.3
EC Number
1.2.1.5
Summary
This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Orthologs
View orthologs and multiple alignments for ALDH1A3

Proteins

aldehyde dehydrogenase family 1 member A3 isoform 1
Refseq ID NP_000684
Protein GI 153266822
UniProt ID P47895
mRNA ID NM_000693
Length 512
RefSeq Status REVIEWED
MATANGAVENGQPDRKPPALPRPIRNLEVKFTKIFINNEWHESKSGKKFATCNPSTREQICEVEEGDKPDVDKAVEAAQVAFQRGSPWRRLDALSRGRLLHQLADLVERDRATLAALETMDTGKPFLHAFFIDLEGCIRTLRYFAGWADKIQGKTIPTDDNVVCFTRHEPIGVCGAITPWNFPLLMLVWKLAPALCCGNTMVLKPAEQTPLTALYLGSLIKEAGFPPGVVNIVPGFGPTVGAAISSHPQINKIAFTGSTEVGKLVKEAASRSNLKRVTLELGGKNPCIVCADADLDLAVECAHQGVFFNQGQCCTAASRVFVEEQVYSEFVRRSVEYAKKRPVGDPFDVKTEQGPQIDQKQFDKILELIESGKKEGAKLECGGSAMEDKGLFIKPTVFSEVTDNMRIAKEEIFGPVQPILKFKSIEEVIKRANSTDYGLTAAVFTKNLDKALKLASALESGTVWINCYNALYAQAPFGGFKMSGNGRELGEYALAEYTEVKTVTIKLGDKNP
aldehyde dehydrogenase family 1 member A3 isoform 2
Refseq ID NP_001280744
Protein GI 658310017
UniProt ID Q7Z3A2
mRNA ID NM_001293815
Length 405
RefSeq Status REVIEWED
MATANGAVENGQPDRKPPALPRPIRNLEVKFTKIFINNEWHESKSGKKFATCNPSTREQICEVEEGDKPDVDKAVEAAQVAFQRGSPWRRLDALSRGRLLHQLADLVERDRATLAAGFPPGVVNIVPGFGPTVGAAISSHPQINKIAFTGSTEVGKLVKEAASRSNLKRVTLELGGKNPCIVCADADLDLAVECAHQGVFFNQGQCCTAASRVFVEEQVYSEFVRRSVEYAKKRPVGDPFDVKTEQGPQIDQKQFDKILELIESGKKEGAKLECGGSAMEDKGLFIKPTVFSEVTDNMRIAKEEIFGPVQPILKFKSIEEVIKRANSTDYGLTAAVFTKNLDKALKLASALESGTVWINCYNALYAQAPFGGFKMSGNGRELGEYALAEYTEVKTVTIKLGDKNP

Gene Information

Entrez Gene ID
220
Gene Name
aldehyde dehydrogenase 1 family, member A3
Gene Symbol
ALDH1A3
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005737 IDA:UniProtKB C cytoplasm
GO:0070062 IDA:UniProtKB C extracellular vesicular exosome
GO:0070403 IEA:Ensembl F NAD+ binding
GO:0004029 IEA:Ensembl F aldehyde dehydrogenase (NAD) activity
GO:0004030 IDA:UniProtKB F aldehyde dehydrogenase [NAD(P)+] activity
GO:0042803 IDA:UniProtKB F protein homodimerization activity
GO:0070324 IEA:Ensembl F thyroid hormone binding
GO:0048048 ISS:UniProtKB P embryonic eye morphogenesis
GO:0060324 IEA:Ensembl P face development
GO:0042472 IEA:Ensembl P inner ear morphogenesis
GO:0007626 IEA:Ensembl P locomotory behavior
GO:0050885 IEA:Ensembl P neuromuscular process controlling balance
GO:0021768 IEA:Ensembl P nucleus accumbens development
GO:0060166 IEA:Ensembl P olfactory pit development
GO:0002072 IEA:Ensembl P optic cup morphogenesis involved in camera-type eye development
GO:0043065 IEA:Ensembl P positive regulation of apoptotic process
GO:0042574 IDA:UniProtKB P retinal metabolic process
GO:0002138 IEA:Ensembl P retinoic acid biosynthetic process
GO:0042573 IDA:UniProtKB P retinoic acid metabolic process
GO:0042572 IEA:UniProtKB-UniPathway P retinol metabolic process
GO:0060013 IEA:Ensembl P righting reflex

KEGG Pathway Links

KEGG Pathway ID Description
hsa05204 Chemical carcinogenesis
hsa00010 Glycolysis / Gluconeogenesis

Domain Information

InterPro Annotations

Accession Description
IPR016162 Aldehyde dehydrogenase N-terminal domain
IPR015590 Aldehyde dehydrogenase domain
IPR016163 Aldehyde dehydrogenase, C-terminal
IPR016160 Aldehyde dehydrogenase, cysteine active site
IPR029510 Aldehyde dehydrogenase, glutamic acid active site
IPR016161 Aldehyde/histidinol dehydrogenase

UniProt Annotations

Entry Information

Gene Name
aldehyde dehydrogenase 1 family, member A3
Protein Entry
H0Y2X5_HUMAN
UniProt ID
Q7Z3A2
Species
Human

Comments

Comment Type Description
Catalytic Activity An aldehyde + NAD(P)(+) + H(2)O = a carboxylate + NAD(P)H.
Disease Microphthalmia, isolated, 8 (MCOP8) [MIM
Function Recognizes as substrates free retinal and cellular retinol-binding protein-bound retinal. Seems to be the key enzyme in the formation of an RA gradient along the dorso-ventral axis during the early eye development and also in the development of the olfactory system (By similarity).
Pathway Cofactor metabolism; retinol metabolism.
Similarity Belongs to the aldehyde dehydrogenase family.
Subcellular Location Cytoplasm .
Tissue Specificity Expressed at low levels in many tissues and at higher levels in salivary gland, stomach, and kidney.

Identical and Related Proteins

Unique RefSeq proteins for LMP002047 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
153266822 RefSeq NP_000684 512 aldehyde dehydrogenase family 1 member A3 isoform 1
658310017 RefSeq NP_001280744 405 aldehyde dehydrogenase family 1 member A3 isoform 2

Identical Sequences to LMP002047 proteins

Reference Database Accession Length Protein Name
GI:153266822 DBBJ BAG10996.1 512 aldehyde dehydrogenase 1 family, member A3, partial [synthetic construct]
GI:153266822 GenBank EAX02281.1 512 aldehyde dehydrogenase 1 family, member A3, isoform CRA_a [Homo sapiens]
GI:153266822 GenBank EAX02282.1 512 aldehyde dehydrogenase 1 family, member A3, isoform CRA_a [Homo sapiens]
GI:658310017 GenBank EAX02283.1 405 aldehyde dehydrogenase 1 family, member A3, isoform CRA_b [Homo sapiens]
GI:658310017 GenBank ACE86700.1 405 aldehyde dehydrogenase 1 family, member A3 protein, partial [synthetic construct]
GI:658310017 GenBank ACE87384.1 405 aldehyde dehydrogenase 1 family, member A3 protein [synthetic construct]
GI:153266822 GenBank ADT48631.1 512 Sequence 648 from patent US 7842467
GI:153266822 GenBank ADT48633.1 512 Sequence 650 from patent US 7842467
GI:658310017 GenBank ADT48634.1 405 Sequence 651 from patent US 7842467
GI:153266822 GenBank ADT48635.1 512 Sequence 652 from patent US 7842467

Related Sequences to LMP002047 proteins

Reference Database Accession Length Protein Name
GI:153266822 DBBJ BAG35229.1 512 unnamed protein product [Homo sapiens]
GI:658310017 DBBJ BAG63855.1 445 unnamed protein product [Homo sapiens]
GI:658310017 EMBL CAD97973.1 416 hypothetical protein, partial [Homo sapiens]
GI:153266822 GenBank AAV20879.1 512 Sequence 1139 from patent US 6753314
GI:153266822 GenBank AFO05688.1 512 Sequence 326 from patent US 8216786
GI:658310017 GenBank EPY82804.1 464 aldehyde dehydrogenase family 1 member A3 [Camelus ferus]
GI:153266822 GenBank AHD75424.1 512 Sequence 17187 from patent US 8586006
GI:153266822 RefSeq XP_001142882.1 512 PREDICTED: aldehyde dehydrogenase family 1 member A3 isoform X1 [Pan troglodytes]
GI:153266822 RefSeq XP_003828480.1 512 PREDICTED: aldehyde dehydrogenase family 1 member A3 isoform X1 [Pan paniscus]
GI:658310017 RefSeq XP_004623307.1 404 PREDICTED: aldehyde dehydrogenase family 1 member A3 isoform X2 [Octodon degus]
GI:658310017 RefSeq XP_008489936.1 406 PREDICTED: aldehyde dehydrogenase family 1 member A3 isoform X3 [Calypte anna]
GI:658310017 RefSeq XP_008952074.1 405 PREDICTED: aldehyde dehydrogenase family 1 member A3 isoform X2 [Pan paniscus]