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Q9H2A2

- AL8A1_HUMAN

UniProt

Q9H2A2 - AL8A1_HUMAN

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Protein
Aldehyde dehydrogenase family 8 member A1
Gene
ALDH8A1, ALDH12
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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).1 Publication

Kineticsi

  1. KM=17.5 µM for benzaldehyde1 Publication
  2. KM=3.15 µM for 9-cis-retinal

pH dependencei

Optimum pH is 9.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei155 – 1551Transition state stabilizer By similarity
Active sitei253 – 2531Proton acceptor By similarity
Active sitei287 – 2871Nucleophile By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi209 – 2157NAD Reviewed prediction

GO - Molecular functioni

  1. retinal dehydrogenase activity Source: UniProtKB

GO - Biological processi

  1. 9-cis-retinoic acid biosynthetic process Source: Ensembl
  2. retinal metabolic process Source: UniProtKB
  3. retinoic acid metabolic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Ligandi

NAD

Names & Taxonomyi

Protein namesi
Recommended name:
Aldehyde dehydrogenase family 8 member A1 (EC:1.2.1.-)
Alternative name(s):
Aldehyde dehydrogenase 12
Gene namesi
Name:ALDH8A1
Synonyms:ALDH12
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:15471. ALDH8A1.

Subcellular locationi

Cytoplasm By similarity

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-SubCell
  2. extracellular vesicular exosome Source: UniProt
  3. intracellular Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA24705.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 487487Aldehyde dehydrogenase family 8 member A1
PRO_0000312954Add
BLAST

Proteomic databases

MaxQBiQ9H2A2.
PaxDbiQ9H2A2.
PRIDEiQ9H2A2.

PTM databases

PhosphoSiteiQ9H2A2.

Expressioni

Tissue specificityi

Highly expressed in adult kidney and liver. Detected at lower levels in fetal liver and kidney.1 Publication

Gene expression databases

ArrayExpressiQ9H2A2.
BgeeiQ9H2A2.
CleanExiHS_ALDH8A1.
GenevestigatoriQ9H2A2.

Organism-specific databases

HPAiHPA026292.

Interactioni

Protein-protein interaction databases

BioGridi122204. 1 interaction.
IntActiQ9H2A2. 1 interaction.
STRINGi9606.ENSP00000265605.

Structurei

3D structure databases

ProteinModelPortaliQ9H2A2.
SMRiQ9H2A2. Positions 12-485.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG1012.
HOGENOMiHOG000271505.
HOVERGENiHBG000097.
InParanoidiQ9H2A2.
OMAiVKDESCC.
OrthoDBiEOG7FV3Q2.
PhylomeDBiQ9H2A2.
TreeFamiTF314129.

Family and domain databases

Gene3Di3.40.309.10. 1 hit.
3.40.605.10. 1 hit.
InterProiIPR016161. Ald_DH/histidinol_DH.
IPR016163. Ald_DH_C.
IPR016160. Ald_DH_CS_CYS.
IPR029510. Ald_DH_CS_GLU.
IPR016162. Ald_DH_N.
IPR015590. Aldehyde_DH_dom.
[Graphical view]
PfamiPF00171. Aldedh. 1 hit.
[Graphical view]
SUPFAMiSSF53720. SSF53720. 1 hit.
PROSITEiPS00070. ALDEHYDE_DEHYDR_CYS. 1 hit.
PS00687. ALDEHYDE_DEHYDR_GLU. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9H2A2-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MAGTNALLML ENFIDGKFLP CSSYIDSYDP STGEVYCRVP NSGKDEIEAA    50
VKAAREAFPS WSSRSPQERS RVLNQVADLL EQSLEEFAQA ESKDQGKTLA 100
LARTMDIPRS VQNFRFFASS SLHHTSECTQ MDHLGCMHYT VRAPVGVAGL 150
ISPWNLPLYL LTWKIAPAMA AGNTVIAKPS ELTSVTAWML CKLLDKAGVP 200
PGVVNIVFGT GPRVGEALVS HPEVPLISFT GSQPTAERIT QLSAPHCKKL 250
SLELGGKNPA IIFEDANLDE CIPATVRSSF ANQGEICLCT SRIFVQKSIY 300
SEFLKRFVEA TRKWKVGIPS DPLVSIGALI SKAHLEKVRS YVKRALAEGA 350
QIWCGEGVDK LSLPARNQAG YFMLPTVITD IKDESCCMTE EIFGPVTCVV 400
PFDSEEEVIE RANNVKYGLA ATVWSSNVGR VHRVAKKLQS GLVWTNCWLI 450
RELNLPFGGM KSSGIGREGA KDSYDFFTEI KTITVKH 487
Length:487
Mass (Da):53,401
Last modified:March 1, 2001 - v1
Checksum:i3CC09F6A7CCC269F
GO
Isoform 2 (identifier: Q9H2A2-2) [UniParc]FASTAAdd to Basket

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

Note: Lacks enzymatic activity.

Show »
Length:433
Mass (Da):47,325
Checksum:i9777AFD28CE20C14
GO
Isoform 3 (identifier: Q9H2A2-3) [UniParc]FASTAAdd to Basket

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.

Show »
Length:160
Mass (Da):17,809
Checksum:iC94538B542A8ECAD
GO
Isoform 4 (identifier: Q9H2A2-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     148-197: Missing.

Note: No experimental confirmation available.

Show »
Length:437
Mass (Da):48,036
Checksum:i9544E73B210BABD6
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti402 – 4021F → S.
Corresponds to variant rs2294315 [ dbSNP | Ensembl ].
VAR_037618

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei148 – 19750Missing in isoform 4.
VSP_043279Add
BLAST
Alternative sequencei148 – 16013AGLIS…LPLYL → VPGYTCRTCRFVT in isoform 3.
VSP_039759Add
BLAST
Alternative sequencei161 – 487327Missing in isoform 3.
VSP_039760Add
BLAST
Alternative sequencei284 – 33754Missing in isoform 2.
VSP_029972Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti252 – 2521L → P in BAD96568. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF303134 mRNA. Translation: AAG42417.1.
AK290784 mRNA. Translation: BAF83473.1.
AK298325 mRNA. Translation: BAH12757.1.
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.
CCDSiCCDS5171.1. [Q9H2A2-1]
CCDS5172.1. [Q9H2A2-2]
CCDS55057.1. [Q9H2A2-4]
RefSeqiNP_001180409.1. NM_001193480.1. [Q9H2A2-4]
NP_072090.1. NM_022568.3. [Q9H2A2-1]
NP_739577.1. NM_170771.2. [Q9H2A2-2]
UniGeneiHs.486520.

Genome annotation databases

EnsembliENST00000265605; ENSP00000265605; ENSG00000118514. [Q9H2A2-1]
ENST00000349305; ENSP00000325473; ENSG00000118514. [Q9H2A2-3]
ENST00000367845; ENSP00000356819; ENSG00000118514. [Q9H2A2-2]
ENST00000367847; ENSP00000356821; ENSG00000118514. [Q9H2A2-4]
GeneIDi64577.
KEGGihsa:64577.
UCSCiuc003qew.3. human. [Q9H2A2-1]
uc003qex.3. human. [Q9H2A2-2]
uc011ecx.2. human. [Q9H2A2-4]

Polymorphism databases

DMDMi74752601.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF303134 mRNA. Translation: AAG42417.1 .
AK290784 mRNA. Translation: BAF83473.1 .
AK298325 mRNA. Translation: BAH12757.1 .
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.
CCDSi CCDS5171.1. [Q9H2A2-1 ]
CCDS5172.1. [Q9H2A2-2 ]
CCDS55057.1. [Q9H2A2-4 ]
RefSeqi NP_001180409.1. NM_001193480.1. [Q9H2A2-4 ]
NP_072090.1. NM_022568.3. [Q9H2A2-1 ]
NP_739577.1. NM_170771.2. [Q9H2A2-2 ]
UniGenei Hs.486520.

3D structure databases

ProteinModelPortali Q9H2A2.
SMRi Q9H2A2. Positions 12-485.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122204. 1 interaction.
IntActi Q9H2A2. 1 interaction.
STRINGi 9606.ENSP00000265605.

PTM databases

PhosphoSitei Q9H2A2.

Polymorphism databases

DMDMi 74752601.

Proteomic databases

MaxQBi Q9H2A2.
PaxDbi Q9H2A2.
PRIDEi Q9H2A2.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000265605 ; ENSP00000265605 ; ENSG00000118514 . [Q9H2A2-1 ]
ENST00000349305 ; ENSP00000325473 ; ENSG00000118514 . [Q9H2A2-3 ]
ENST00000367845 ; ENSP00000356819 ; ENSG00000118514 . [Q9H2A2-2 ]
ENST00000367847 ; ENSP00000356821 ; ENSG00000118514 . [Q9H2A2-4 ]
GeneIDi 64577.
KEGGi hsa:64577.
UCSCi uc003qew.3. human. [Q9H2A2-1 ]
uc003qex.3. human. [Q9H2A2-2 ]
uc011ecx.2. human. [Q9H2A2-4 ]

Organism-specific databases

CTDi 64577.
GeneCardsi GC06M135238.
HGNCi HGNC:15471. ALDH8A1.
HPAi HPA026292.
MIMi 606467. gene.
neXtProti NX_Q9H2A2.
PharmGKBi PA24705.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1012.
HOGENOMi HOG000271505.
HOVERGENi HBG000097.
InParanoidi Q9H2A2.
OMAi VKDESCC.
OrthoDBi EOG7FV3Q2.
PhylomeDBi Q9H2A2.
TreeFami TF314129.

Miscellaneous databases

GenomeRNAii 64577.
NextBioi 66507.
PROi Q9H2A2.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9H2A2.
Bgeei Q9H2A2.
CleanExi HS_ALDH8A1.
Genevestigatori Q9H2A2.

Family and domain databases

Gene3Di 3.40.309.10. 1 hit.
3.40.605.10. 1 hit.
InterProi IPR016161. Ald_DH/histidinol_DH.
IPR016163. Ald_DH_C.
IPR016160. Ald_DH_CS_CYS.
IPR029510. Ald_DH_CS_GLU.
IPR016162. Ald_DH_N.
IPR015590. Aldehyde_DH_dom.
[Graphical view ]
Pfami PF00171. Aldedh. 1 hit.
[Graphical view ]
SUPFAMi SSF53720. SSF53720. 1 hit.
PROSITEi PS00070. ALDEHYDE_DEHYDR_CYS. 1 hit.
PS00687. ALDEHYDE_DEHYDR_GLU. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4).
    Tissue: Kidney and 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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. 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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).

Entry informationi

Entry nameiAL8A1_HUMAN
AccessioniPrimary (citable) accession number: Q9H2A2
Secondary accession number(s): B7Z521
, O60793, Q24JS9, Q53GT3, Q5TI80
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: March 1, 2001
Last modified: September 3, 2014
This is version 109 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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