P47895 (AL1A3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Aldehyde dehydrogenase family 1 member A3
EC=1.2.1.5

Alternative name(s):
Aldehyde dehydrogenase 6
Retinaldehyde dehydrogenase 3
Short name=RALDH-3
Short name=RalDH3

Gene names

Name:	ALDH1A3
Synonyms:	ALDH6

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	512 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

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.
Catalytic activity	An aldehyde + NAD(P)+ + H2O = a carboxylate + NAD(P)H.
Pathway	Cofactor metabolism; retinol metabolism.
Subcellular location	Cytoplasm By similarity.
Tissue specificity	Expressed at low levels in many tissues and at higher levels in salivary gland, stomach, and kidney.
Sequence similarities	Belongs to the aldehyde dehydrogenase family.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Polymorphism
Ligand	NAD
Molecular function	Oxidoreductase
PTM	Acetylation
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	embryonic eye morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB face development Inferred from electronic annotation. Source: Compara nucleus accumbens development Inferred from electronic annotation. Source: Compara olfactory pit development Inferred from electronic annotation. Source: Compara optic cup morphogenesis involved in camera-type eye development Inferred from electronic annotation. Source: Compara positive regulation of apoptotic process Inferred from electronic annotation. Source: Compara retinal metabolic process Inferred from direct assay PubMed 11585737. Source: UniProtKB retinoic acid biosynthetic process Inferred from electronic annotation. Source: Compara retinoic acid metabolic process Inferred from direct assay PubMed 11585737. Source: UniProtKB retinol metabolic process Inferred from electronic annotation. Source: UniProtKB-UniPathway
Cellular_component	cytoplasm Inferred from direct assay PubMed 11585737. Source: UniProtKB
Molecular_function	NAD+ binding Inferred from electronic annotation. Source: Compara aldehyde dehydrogenase (NAD) activity Inferred from electronic annotation. Source: Compara aldehyde dehydrogenase [NAD(P)+] activity Inferred from direct assay PubMed 11585737. Source: UniProtKB protein homodimerization activity Inferred from direct assay PubMed 11585737. Source: UniProtKB thyroid hormone binding Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed Ref.3
	Chain	2 – 512	511	Aldehyde dehydrogenase family 1 member A3		PRO_0000056478
Regions
	Nucleotide binding	257 – 262	6	NAD By similarity
Sites
	Active site	280	1	Proton acceptor By similarity
	Active site	314	1	Nucleophile By similarity
	Site	181	1	Transition state stabilizer By similarity
Amino acid modifications
	Modified residue	2	1	N-acetylalanine Ref.3
Natural variations
	Natural variant	386	1	M → V. Corresponds to variant rs3803430 [ dbSNP | Ensembl ].		VAR_019706
Experimental info
	Sequence conflict	15	1	R → G in AAA79036. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	P47895 [UniParc]. Last modified September 27, 2004. Version 2. Checksum: 1BFCF4F56F0FE89A	FASTA	512	56,108
	10 20 30 40 50 60 MATANGAVEN GQPDRKPPAL PRPIRNLEVK FTKIFINNEW HESKSGKKFA TCNPSTREQI 70 80 90 100 110 120 CEVEEGDKPD VDKAVEAAQV AFQRGSPWRR LDALSRGRLL HQLADLVERD RATLAALETM 130 140 150 160 170 180 DTGKPFLHAF FIDLEGCIRT LRYFAGWADK IQGKTIPTDD NVVCFTRHEP IGVCGAITPW 190 200 210 220 230 240 NFPLLMLVWK LAPALCCGNT MVLKPAEQTP LTALYLGSLI KEAGFPPGVV NIVPGFGPTV 250 260 270 280 290 300 GAAISSHPQI NKIAFTGSTE VGKLVKEAAS RSNLKRVTLE LGGKNPCIVC ADADLDLAVE 310 320 330 340 350 360 CAHQGVFFNQ GQCCTAASRV FVEEQVYSEF VRRSVEYAKK RPVGDPFDVK TEQGPQIDQK 370 380 390 400 410 420 QFDKILELIE SGKKEGAKLE CGGSAMEDKG LFIKPTVFSE VTDNMRIAKE EIFGPVQPIL 430 440 450 460 470 480 KFKSIEEVIK RANSTDYGLT AAVFTKNLDK ALKLASALES GTVWINCYNA LYAQAPFGGF 490 500 510 KMSGNGRELG EYALAEYTEV KTVTIKLGDK NP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning, genomic organization, and chromosomal localization of an additional human aldehyde dehydrogenase gene, ALDH6." Hsu L.C., Chang W.-C., Hiraoka L., Hsieh C.-L. Genomics 24:333-341(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Salivary gland.
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Pancreas.
[3]	Bienvenut W.V., Dozynkiewicz M., Norman J.C. Submitted (MAR-2009) to UniProtKB Cited for: PROTEIN SEQUENCE OF 2-15; 253-263; 407-421; 432-446 AND 488-501, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT ALA-2, MASS SPECTROMETRY. Tissue: Ovarian carcinoma.
[4]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	U07919 mRNA. Translation: AAA79036.1. BC069274 mRNA. Translation: AAH69274.1.
IPI	IPI00026663.
PIR	A55684.
RefSeq	NP_000684.2. NM_000693.2.
UniGene	Hs.459538.
3D structure databases
ProteinModelPortal	P47895.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000332256.
PTM databases
PhosphoSite	P47895.
Polymorphism databases
DMDM	52788258.
Proteomic databases
PaxDb	P47895.
PeptideAtlas	P47895.
PRIDE	P47895.
Protocols and materials databases
DNASU	220.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000329841; ENSP00000332256; ENSG00000184254.
GeneID	220.
KEGG	hsa:220.
UCSC	uc002bwn.4. human.
Organism-specific databases
CTD	220.
GeneCards	GC15P101419.
H-InvDB	HIX0026851.
HGNC	HGNC:409. ALDH1A3.
HPA	HPA046271.
MIM	600463. gene.
neXtProt	NX_P47895.
PharmGKB	PA24694.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1012.
HOGENOM	HOG000271505.
HOVERGEN	HBG000097.
InParanoid	P47895.
KO	K00129.
OMA	LVWKMAP.
OrthoDB	EOG4Z8XW6.
PhylomeDB	P47895.
Enzyme and pathway databases
BioCyc	MetaCyc:HS00013-MONOMER.
UniPathway	UPA00912.
Gene expression databases
ArrayExpress	P47895.
Bgee	P47895.
CleanEx	HS_ALDH1A3.
Genevestigator	P47895.
GermOnline	ENSG00000184254. Homo sapiens.
Family and domain databases
Gene3D	3.40.309.10. 1 hit. 3.40.605.10. 1 hit.
InterPro	IPR016161. Ald_DH/histidinol_DH. IPR016163. Ald_DH_C. IPR016160. Ald_DH_CS. IPR016162. Ald_DH_N. IPR015590. Aldehyde_DH_dom. [Graphical view]
Pfam	PF00171. Aldedh. 1 hit. [Graphical view]
SUPFAM	SSF53720. Aldehyde_DH/Histidinol_DH. 1 hit.
PROSITE	PS00070. ALDEHYDE_DEHYDR_CYS. 1 hit. PS00687. ALDEHYDE_DEHYDR_GLU. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChEMBL	CHEMBL3579.
DrugBank	DB00157. NADH. DB00162. Vitamin A.
GenomeRNAi	220.
NextBio	890.
SOURCE	Search...

Entry information

Entry name

AL1A3_HUMAN

Accession

Primary (citable) accession number: P47895
Secondary accession number(s): Q6NT64

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 1996
Last sequence update:	September 27, 2004
Last modified:	May 1, 2013
This is version 118 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.