Reviewed, UniProtKB/Swiss-Prot P47895 (AL1A3_HUMAN)

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) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › 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 = an acid + 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
Gene Ontology (GO)
Biological process	oxidation reduction Inferred from electronic annotation. Source: UniProtKB-KW retinal metabolic process Inferred from direct assay. Source: UniProtKB retinoic acid metabolic process Inferred from direct assay. Source: UniProtKB
Cellular component	cytoplasm Inferred from direct assay. Source: UniProtKB
Molecular function	aldehyde dehydrogenase [NAD(P)+] activity Inferred from direct assay. Source: UniProtKB protein homodimerization activity Inferred from direct assay. Source: UniProtKB
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: dbSNP rs3803430.		VAR_019706
Experimental info
	Sequence conflict	15	1	R → G in AAA79036. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	P47895-1 [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: 7698756] [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: 15489334] [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]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
+	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.
UniGene	Hs.459538
3D structure databases
SMR	P47895. Positions 20-511.
ModBase	Search...
Protein-protein interaction databases
STRING	P47895.
PTM databases
PhosphoSite	P47895.
Proteomic databases
PeptideAtlas	P47895.
PRIDE	P47895.
Genome annotation databases
Ensembl	ENST00000329841; ENSP00000332256; ENSG00000184254; Homo sapiens. [Genome view]
GeneID	220.
KEGG	hsa:220.
NMPDR	fig|9606.3.peg.11311.
UCSC	uc002bwn.2. human.
Organism-specific databases
CTD	220.
GeneCards	GC15P099237.
H-InvDB	HIX0026851.
HGNC	HGNC:409. ALDH1A3.
MIM	600463. gene.
PharmGKB	PA24694.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG05566.
HOGENOM	HBG752218.
HOVERGEN	P47895.
InParanoid	P47895.
OMA	DQKQFDK.
PhylomeDB	P47895.
Enzyme and pathway databases
BRENDA	1.2.1.5. 247.
Gene expression databases
ArrayExpress	P47895.
Bgee	P47895.
CleanEx	HS_ALDH1A3.
Genevestigator	P47895.
GermOnline	ENSG00000184254. Homo sapiens.
Family and domain databases
InterPro	IPR016161. Ald_DH/histidinol_DH. IPR016160. Ald_DH_CS. IPR016162. Ald_DH_N. IPR015590. Aldehyde_DH. [Graphical view]
Gene3D	G3DSA:3.40.605.10. Aldehyde_dehydrogenase_N. 1 hit.
PANTHER	PTHR11699. Aldehyde_dehyd. 1 hit.
Pfam	PF00171. Aldedh. 1 hit. [Graphical view]
PROSITE	PS00070. ALDEHYDE_DEHYDR_CYS. 1 hit. PS00687. ALDEHYDE_DEHYDR_GLU. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
DrugBank	DB00157. NADH. DB00162. Vitamin A.
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:	January 19, 2010
This is version 90 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.