Reviewed, UniProtKB/Swiss-Prot Q9H2A2 (AL8A1_HUMAN)

Names and origin

Protein names

Recommended name:
    Aldehyde dehydrogenase family 8 member A1
    EC=1.2.1.-
Alternative name(s):
    Aldehyde dehydrogenase 12

Gene names

Name:	ALDH8A1
Synonyms:	ALDH12

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	487 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

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). Ref.1
Subcellular location	Cytoplasm By similarity.
Tissue specificity	Highly expressed in adult kidney and liver. Detected at lower levels in fetal liver and kidney. Ref.1
Sequence similarities	Belongs to the aldehyde dehydrogenase family.
biophysicochemical properties	Kinetic parameters: KM=17.5 µM for benzaldehyde KM=3.15 µM for 9-cis-retinal pH dependence: Optimum pH is 9.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	NAD
Molecular function	Oxidoreductase
Gene Ontology (GO)
Biological process	oxidation reduction Inferred from electronic annotation. Source: UniProtKB-KW retinal metabolic process Ref.1 Inferred from direct assay. Source: UniProtKB retinoic acid metabolic process Ref.1 Inferred from direct assay. Source: UniProtKB
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	retinal dehydrogenase activity Ref.1 Inferred from direct assay. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9H2A2-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9H2A2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     284-337: Missing.

Note: Lacks enzyme activity.

Isoform 3 (identifier: Q9H2A2-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-168: Missing.
     284-337: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 487	487	Aldehyde dehydrogenase family 8 member A1		PRO_0000312954
Regions
	Nucleotide binding	209 – 215	7	NAD Potential
Sites
	Active site	253	1	Proton acceptor By similarity
	Active site	287	1	Nucleophile By similarity
	Site	155	1	Transition state stabilizer By similarity
Natural variations
	Alternative sequence	1 – 168	168	Missing in isoform 3.		VSP_029971
	Alternative sequence	284 – 337	54	Missing in isoform 2 and isoform 3.		VSP_029972
	Natural variant	402	1	F → S: dbSNP rs2294315.		VAR_037618
Experimental info
	Sequence conflict	252	1	L → P in BAD96568. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: 3CC09F6A7CCC269F	FASTA	487	53,401
	10 20 30 40 50 60 MAGTNALLML ENFIDGKFLP CSSYIDSYDP STGEVYCRVP NSGKDEIEAA VKAAREAFPS 70 80 90 100 110 120 WSSRSPQERS RVLNQVADLL EQSLEEFAQA ESKDQGKTLA LARTMDIPRS VQNFRFFASS 130 140 150 160 170 180 SLHHTSECTQ MDHLGCMHYT VRAPVGVAGL ISPWNLPLYL LTWKIAPAMA AGNTVIAKPS 190 200 210 220 230 240 ELTSVTAWML CKLLDKAGVP PGVVNIVFGT GPRVGEALVS HPEVPLISFT GSQPTAERIT 250 260 270 280 290 300 QLSAPHCKKL SLELGGKNPA IIFEDANLDE CIPATVRSSF ANQGEICLCT SRIFVQKSIY 310 320 330 340 350 360 SEFLKRFVEA TRKWKVGIPS DPLVSIGALI SKAHLEKVRS YVKRALAEGA QIWCGEGVDK 370 380 390 400 410 420 LSLPARNQAG YFMLPTVITD IKDESCCMTE EIFGPVTCVV PFDSEEEVIE RANNVKYGLA 430 440 450 460 470 480 ATVWSSNVGR VHRVAKKLQS GLVWTNCWLI RELNLPFGGM KSSGIGREGA KDSYDFFTEI KTITVKH
	Isoform 2. Checksum: 9777AFD28CE20C14	FASTA	433	47,325
	10 20 30 40 50 60 MAGTNALLML ENFIDGKFLP CSSYIDSYDP STGEVYCRVP NSGKDEIEAA VKAAREAFPS 70 80 90 100 110 120 WSSRSPQERS RVLNQVADLL EQSLEEFAQA ESKDQGKTLA LARTMDIPRS VQNFRFFASS 130 140 150 160 170 180 SLHHTSECTQ MDHLGCMHYT VRAPVGVAGL ISPWNLPLYL LTWKIAPAMA AGNTVIAKPS 190 200 210 220 230 240 ELTSVTAWML CKLLDKAGVP PGVVNIVFGT GPRVGEALVS HPEVPLISFT GSQPTAERIT 250 260 270 280 290 300 QLSAPHCKKL SLELGGKNPA IIFEDANLDE CIPATVRSSF ANQVRSYVKR ALAEGAQIWC 310 320 330 340 350 360 GEGVDKLSLP ARNQAGYFML PTVITDIKDE SCCMTEEIFG PVTCVVPFDS EEEVIERANN 370 380 390 400 410 420 VKYGLAATVW SSNVGRVHRV AKKLQSGLVW TNCWLIRELN LPFGGMKSSG IGREGAKDSY 430 DFFTEIKTIT VKH
	Isoform 3. Checksum: 514B3003426FE1DF	FASTA	265	28,699
	10 20 30 40 50 60 MAAGNTVIAK PSELTSVTAW MLCKLLDKAG VPPGVVNIVF GTGPRVGEAL VSHPEVPLIS 70 80 90 100 110 120 FTGSQPTAER ITQLSAPHCK KLSLELGGKN PAIIFEDANL DECIPATVRS SFANQVRSYV 130 140 150 160 170 180 KRALAEGAQI WCGEGVDKLS LPARNQAGYF MLPTVITDIK DESCCMTEEI FGPVTCVVPF 190 200 210 220 230 240 DSEEEVIERA NNVKYGLAAT VWSSNVGRVH RVAKKLQSGL VWTNCWLIRE LNLPFGGMKS 250 260 SGIGREGAKD SYDFFTEIKT ITVKH

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"cDNA cloning and expression of a human aldehyde dehydrogenase (ALDH) active with 9-cis-retinal and identification of a rat ortholog, ALDH12." Lin M., Napoli J.L. J. Biol. Chem. 275:40106-40112(2000) [PubMed: 11007799] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES, TISSUE SPECIFICITY. Tissue: Kidney.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Liver.
[3]	Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Liver.
[4]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed: 14574404] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"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] (ISOFORMS 1 AND 3).
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF303134 mRNA. Translation: AAG42417.1. AK290784 mRNA. Translation: BAF83473.1. AK222848 mRNA. Translation: BAD96568.1. AL021939, AL445190 Genomic DNA. Translation: CAI20305.1. AL021939, AL445190 Genomic DNA. Translation: CAI20306.1. AL445190, AL021939 Genomic DNA. Translation: CAI95158.1. AL445190, AL021939 Genomic DNA. Translation: CAI95159.1. CH471051 Genomic DNA. Translation: EAW47985.1. CH471051 Genomic DNA. Translation: EAW47986.1. BC113862 mRNA. Translation: AAI13863.1. BC114473 mRNA. Translation: AAI14474.1.
IPI	IPI00171391. IPI00172476. IPI00878117.
RefSeq	NP_072090.1. NP_739577.1.
UniGene	Hs.486520
3D structure databases
HSSP	HSSP built from PDB template 1BXS based on UniProtKB P51977.
ModBase	Search...
Proteomic databases
PRIDE	Q9H2A2.
Genome annotation databases
Ensembl	ENSG00000118514. Homo sapiens. [Contig view]
GeneID	64577.
KEGG	hsa:64577.
NMPDR	fig|9606.3.peg.27794.
Organism-specific databases
GeneCards	GC06M135280.
HGNC	HGNC:15471. ALDH8A1.
MIM	606467. gene.
PharmGKB	PA24705.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q9H2A2.
HOVERGEN	Q9H2A2.
OMA	Q9H2A2. KNPAIIF.
Gene expression databases
ArrayExpress	Q9H2A2.
Bgee	Q9H2A2.
CleanEx	HS_ALDH8A1.
Family and domain databases
InterPro	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
NextBio	66507.
SOURCE	Search...

Entry information

Entry name

AL8A1_HUMAN

Accession

Primary (citable) accession number: Q9H2A2
Secondary accession number(s): O60793 , Q24JS9, Q53GT3, Q5TI80

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 15, 2008
Last sequence update:	March 1, 2001
Last modified:	June 16, 2009
This is version 62 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)