Q9H2A2 (AL8A1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

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.
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 Ref.1 KM=3.15 µM for 9-cis-retinal pH dependence: Optimum pH is 9.
Sequence caution	The sequence AAI14474.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	NAD
Molecular function	Oxidoreductase
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	retinal metabolic process Inferred from direct assay Ref.1. Source: UniProtKB
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	retinal dehydrogenase activity Inferred from direct assay Ref.1. 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 enzymatic activity.

Isoform 3 (identifier: Q9H2A2-3)

The sequence of this isoform differs from the canonical sequence as follows:
     148-160: AGLISPWNLPLYL → VPGYTCRTCRFVT
     161-487: Missing.

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.

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
Amino acid modifications
	Modified residue	83	1	Phosphoserine Ref.7
Natural variations
	Alternative sequence	148 – 160	13	AGLIS…LPLYL → VPGYTCRTCRFVT in isoform 3.		VSP_039759
	Alternative sequence	161 – 487	327	Missing in isoform 3.		VSP_039760
	Alternative sequence	284 – 337	54	Missing in isoform 2.		VSP_029972
	Natural variant	402	1	F → S. Corresponds to variant rs2294315 [ dbSNP | Ensembl ].		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 [UniParc]. 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 [UniParc]. Checksum: C94538B542A8ECAD	FASTA	160	17,809
	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 SLHHTSECTQ MDHLGCMHYT VRAPVGVVPG YTCRTCRFVT

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).
[7]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-83, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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. Sequence problems.
IPI	IPI00171391. IPI00172476. IPI00878117.
RefSeq	NP_072090.1. NM_022568.3. NP_739577.1. NM_170771.2.
UniGene	Hs.486520.
3D structure databases
HSSP	HSSP built from PDB template 2D4E based on UniProtKB Q5SJP9.
ProteinModelPortal	Q9H2A2.
SMR	Q9H2A2. Positions 10-487.
ModBase	Search...
Protein-protein interaction databases
STRING	Q9H2A2.
PTM databases
PhosphoSite	Q9H2A2.
Polymorphism databases
DMDM	74752601.
Proteomic databases
PRIDE	Q9H2A2.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000265605; ENSP00000265605; ENSG00000118514. ENST00000367847; ENSP00000356821; ENSG00000118514.
GeneID	64577.
KEGG	hsa:64577.
NMPDR	fig|9606.3.peg.27794.
UCSC	uc003qew.1. human. uc003qex.1. human.
Organism-specific databases
CTD	64577.
GeneCards	GC06M135238.
H-InvDB	HIX0006236.
HGNC	HGNC:15471. ALDH8A1.
HPA	HPA026292.
MIM	606467. gene.
neXtProt	NX_Q9H2A2.
PharmGKB	PA24705.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG17097.
GeneTree	ENSGT00560000077032.
HOGENOM	HBG752218.
HOVERGEN	HBG000097.
InParanoid	Q9H2A2.
OMA	LEECIPT.
OrthoDB	EOG45HRX8.
PhylomeDB	Q9H2A2.
Gene expression databases
ArrayExpress	Q9H2A2.
Bgee	Q9H2A2.
CleanEx	HS_ALDH8A1.
Genevestigator	Q9H2A2.
Family and domain databases
InterPro	IPR016161. Ald_DH/histidinol_DH. IPR016163. Ald_DH_C. IPR016160. Ald_DH_CS. IPR016162. Ald_DH_N. IPR015590. Aldehyde_DH_dom. [Graphical view]
Gene3D	G3DSA:3.40.309.10. Aldehyde_dehydrogenase_C. 1 hit. G3DSA:3.40.605.10. Aldehyde_dehydrogenase_N. 1 hit.
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
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:	January 25, 2012
This is version 84 of the entry and version 1 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.