Gene/Proteome Database (LMPD)
LMPD ID
LMP001544
Gene ID
Species
Homo sapiens (Human)
Gene Name
aldehyde dehydrogenase 8 family, member A1
Gene Symbol
Synonyms
ALDH12; DJ352A20.2
Alternate Names
aldehyde dehydrogenase family 8 member A1; aldehyde dehydrogenase 12; aldehyde dehydrogenase family protein
Chromosome
6
Map Location
6q23.2
EC Number
1.2.1.-
Summary
This protein belongs to the aldehyde dehydrogenases family of proteins. It plays a role in a pathway of 9-cis-retinoic acid biosynthesis in vivo. This enzyme converts 9-cis-retinal into the retinoid X receptor ligand 9-cis-retinoic acid, and has approximately 40-fold higher activity with 9-cis-retinal than with all-trans-retinal. Therefore, it is the first known aldehyde dehydrogenase to show a preference for 9-cis-retinal relative to all-trans-retinal. Three transcript variants encoding distinct protein isoforms have been identified for this gene. [provided by RefSeq, Jul 2010]
Orthologs
Proteins
| aldehyde dehydrogenase family 8 member A1 isoform 1 | |
|---|---|
| Refseq ID | NP_072090 |
| Protein GI | 12007648 |
| UniProt ID | Q9H2A2 |
| mRNA ID | NM_022568 |
| Length | 487 |
| RefSeq Status | REVIEWED |
| MAGTNALLMLENFIDGKFLPCSSYIDSYDPSTGEVYCRVPNSGKDEIEAAVKAAREAFPSWSSRSPQERSRVLNQVADLLEQSLEEFAQAESKDQGKTLALARTMDIPRSVQNFRFFASSSLHHTSECTQMDHLGCMHYTVRAPVGVAGLISPWNLPLYLLTWKIAPAMAAGNTVIAKPSELTSVTAWMLCKLLDKAGVPPGVVNIVFGTGPRVGEALVSHPEVPLISFTGSQPTAERITQLSAPHCKKLSLELGGKNPAIIFEDANLDECIPATVRSSFANQGEICLCTSRIFVQKSIYSEFLKRFVEATRKWKVGIPSDPLVSIGALISKAHLEKVRSYVKRALAEGAQIWCGEGVDKLSLPARNQAGYFMLPTVITDIKDESCCMTEEIFGPVTCVVPFDSEEEVIERANNVKYGLAATVWSSNVGRVHRVAKKLQSGLVWTNCWLIRELNLPFGGMKSSGIGREGAKDSYDFFTEIKTITVKH | |
| aldehyde dehydrogenase family 8 member A1 isoform 2 | |
|---|---|
| Refseq ID | NP_739577 |
| Protein GI | 25952152 |
| UniProt ID | Q9H2A2 |
| mRNA ID | NM_170771 |
| Length | 433 |
| RefSeq Status | REVIEWED |
| MAGTNALLMLENFIDGKFLPCSSYIDSYDPSTGEVYCRVPNSGKDEIEAAVKAAREAFPSWSSRSPQERSRVLNQVADLLEQSLEEFAQAESKDQGKTLALARTMDIPRSVQNFRFFASSSLHHTSECTQMDHLGCMHYTVRAPVGVAGLISPWNLPLYLLTWKIAPAMAAGNTVIAKPSELTSVTAWMLCKLLDKAGVPPGVVNIVFGTGPRVGEALVSHPEVPLISFTGSQPTAERITQLSAPHCKKLSLELGGKNPAIIFEDANLDECIPATVRSSFANQVRSYVKRALAEGAQIWCGEGVDKLSLPARNQAGYFMLPTVITDIKDESCCMTEEIFGPVTCVVPFDSEEEVIERANNVKYGLAATVWSSNVGRVHRVAKKLQSGLVWTNCWLIRELNLPFGGMKSSGIGREGAKDSYDFFTEIKTITVKH | |
| aldehyde dehydrogenase family 8 member A1 isoform 3 | |
|---|---|
| Refseq ID | NP_001180409 |
| Protein GI | 301500698 |
| UniProt ID | Q9H2A2 |
| mRNA ID | NM_001193480 |
| Length | 437 |
| RefSeq Status | REVIEWED |
| MAGTNALLMLENFIDGKFLPCSSYIDSYDPSTGEVYCRVPNSGKDEIEAAVKAAREAFPSWSSRSPQERSRVLNQVADLLEQSLEEFAQAESKDQGKTLALARTMDIPRSVQNFRFFASSSLHHTSECTQMDHLGCMHYTVRAPVGVGVPPGVVNIVFGTGPRVGEALVSHPEVPLISFTGSQPTAERITQLSAPHCKKLSLELGGKNPAIIFEDANLDECIPATVRSSFANQGEICLCTSRIFVQKSIYSEFLKRFVEATRKWKVGIPSDPLVSIGALISKAHLEKVRSYVKRALAEGAQIWCGEGVDKLSLPARNQAGYFMLPTVITDIKDESCCMTEEIFGPVTCVVPFDSEEEVIERANNVKYGLAATVWSSNVGRVHRVAKKLQSGLVWTNCWLIRELNLPFGGMKSSGIGREGAKDSYDFFTEIKTITVKH | |
Gene Information
Entrez Gene ID
Gene Name
aldehyde dehydrogenase 8 family, member A1
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005737 | IEA:UniProtKB-KW | C | cytoplasm |
| GO:0070062 | IDA:UniProt | C | extracellular vesicular exosome |
| GO:0005622 | IDA:UniProtKB | C | intracellular |
| GO:0001758 | IDA:UniProtKB | F | retinal dehydrogenase activity |
| GO:0042904 | IEA:Ensembl | P | 9-cis-retinoic acid biosynthetic process |
| GO:0042574 | IDA:UniProtKB | P | retinal metabolic process |
| GO:0042573 | IDA:UniProtKB | P | retinoic acid metabolic process |
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 8 family, member A1
Protein Entry
AL8A1_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Alternative Products | Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9H2A2-1; Sequence=Displayed; Name=2; IsoId=Q9H2A2-2; Sequence=VSP_029972; Note=Lacks enzymatic activity.; Name=3; IsoId=Q9H2A2-3; Sequence=VSP_039759, VSP_039760; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; Name=4; IsoId=Q9H2A2-4; Sequence=VSP_043279; Note=No experimental confirmation available.; |
| Biophysicochemical Properties | Kinetic parameters: KM=17.5 uM for benzaldehyde ; KM=3.15 uM for 9-cis-retinal ; pH dependence: Optimum pH is 9. ; |
| Function | Converts 9-cis-retinal to 9-cis-retinoic acid. Has lower activity towards 13-cis-retinal. Has much lower activity towards all-trans-retinal. Has highest activity with benzaldehyde and decanal (in vitro). Has a preference for NAD, but shows considerable activity with NADP (in vitro). |
| Sequence Caution | Sequence=AAI14474.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence= ; |
| Similarity | Belongs to the aldehyde dehydrogenase family. |
| Subcellular Location | Cytoplasm . |
| Tissue Specificity | Highly expressed in adult kidney and liver. Detected at lower levels in fetal liver and kidney. |
Identical and Related Proteins
Unique RefSeq proteins for LMP001544 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 12007648 | RefSeq | NP_072090 | 487 | aldehyde dehydrogenase family 8 member A1 isoform 1 |
| 25952152 | RefSeq | NP_739577 | 433 | aldehyde dehydrogenase family 8 member A1 isoform 2 |
| 301500698 | RefSeq | NP_001180409 | 437 | aldehyde dehydrogenase family 8 member A1 isoform 3 |
Identical Sequences to LMP001544 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:25952152 | DBBJ | BAF83473.1 | 433 | unnamed protein product [Homo sapiens] |
| GI:301500698 | DBBJ | BAH12757.1 | 437 | unnamed protein product [Homo sapiens] |
| GI:12007648 | GenBank | AAG42417.1 | 487 | aldehyde dehydrogenase 12 [Homo sapiens] |
| GI:12007648 | GenBank | AAI13863.1 | 487 | Aldehyde dehydrogenase 8 family, member A1 [Homo sapiens] |
| GI:25952152 | GenBank | EAW47985.1 | 433 | aldehyde dehydrogenase 8 family, member A1, isoform CRA_a [Homo sapiens] |
| GI:12007648 | GenBank | EAW47986.1 | 487 | aldehyde dehydrogenase 8 family, member A1, isoform CRA_b [Homo sapiens] |
| GI:12007648 | GenBank | AHD74862.1 | 487 | Sequence 15566 from patent US 8586006 |
| GI:25952152 | GenBank | AHD74863.1 | 433 | Sequence 15567 from patent US 8586006 |
| GI:12007648 | GenBank | AIC52142.1 | 487 | ALDH8A1, partial [synthetic construct] |
| GI:12007648 | SwissProt | Q9H2A2.1 | 487 | RecName: Full=Aldehyde dehydrogenase family 8 member A1; AltName: Full=Aldehyde dehydrogenase 12 [Homo sapiens] |
Related Sequences to LMP001544 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:25952152 | DBBJ | BAD96568.1 | 433 | aldehyde dehydrogenase 8A1 isoform 2 variant, partial [Homo sapiens] |
| GI:12007648 | EMBL | CAD10313.1 | 487 | unnamed protein product [Homo sapiens] |
| GI:301500698 | GenBank | EAW47986.1 | 487 | aldehyde dehydrogenase 8 family, member A1, isoform CRA_b [Homo sapiens] |
| GI:301500698 | GenBank | AIC52142.1 | 487 | ALDH8A1, partial [synthetic construct] |
| GI:12007648 | RefSeq | XP_003255799.1 | 487 | PREDICTED: aldehyde dehydrogenase family 8 member A1 isoform 1 [Nomascus leucogenys] |
| GI:25952152 | RefSeq | XP_003255800.1 | 433 | PREDICTED: aldehyde dehydrogenase family 8 member A1 isoform 2 [Nomascus leucogenys] |
| GI:301500698 | RefSeq | XP_003255801.1 | 437 | PREDICTED: aldehyde dehydrogenase family 8 member A1 isoform 3 [Nomascus leucogenys] |
| GI:12007648 | RefSeq | XP_001170111.2 | 487 | PREDICTED: aldehyde dehydrogenase family 8 member A1 isoform X1 [Pan troglodytes] |
| GI:25952152 | RefSeq | XP_004044762.1 | 433 | PREDICTED: aldehyde dehydrogenase family 8 member A1 isoform 1 [Gorilla gorilla gorilla] |
| GI:12007648 | RefSeq | XP_004044763.1 | 487 | PREDICTED: aldehyde dehydrogenase family 8 member A1 isoform 2 [Gorilla gorilla gorilla] |
| GI:301500698 | RefSeq | XP_004044764.1 | 437 | PREDICTED: aldehyde dehydrogenase family 8 member A1 isoform 3 [Gorilla gorilla gorilla] |
| GI:12007648 | RefSeq | XP_005551954.1 | 487 | PREDICTED: aldehyde dehydrogenase family 8 member A1 isoform X2 [Macaca fascicularis] |
| GI:301500698 | RefSeq | XP_005551955.1 | 437 | PREDICTED: aldehyde dehydrogenase family 8 member A1 isoform X3 [Macaca fascicularis] |
| GI:25952152 | RefSeq | XP_005551956.1 | 433 | PREDICTED: aldehyde dehydrogenase family 8 member A1 isoform X4 [Macaca fascicularis] |
| GI:25952152 | RefSeq | XP_006715614.1 | 473 | PREDICTED: aldehyde dehydrogenase family 8 member A1 isoform X1 [Homo sapiens] |
| GI:25952152 | RefSeq | XP_008005158.1 | 433 | PREDICTED: aldehyde dehydrogenase family 8 member A1 isoform X3 [Chlorocebus sabaeus] |
| GI:12007648 | RefSeq | XP_008951274.1 | 487 | PREDICTED: aldehyde dehydrogenase family 8 member A1 isoform X1 [Pan paniscus] |
| GI:301500698 | RefSeq | XP_009240551.1 | 437 | PREDICTED: aldehyde dehydrogenase family 8 member A1 isoform X2 [Pongo abelii] |