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P30837 (AL1B1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 136. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Aldehyde dehydrogenase X, mitochondrial

EC=1.2.1.3
Alternative name(s):
Aldehyde dehydrogenase 5
Aldehyde dehydrogenase family 1 member B1
Gene names
Name:ALDH1B1
Synonyms:ALDH5, ALDHX
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length517 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

ALDHs play a major role in the detoxification of alcohol-derived acetaldehyde. They are involved in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation.

Catalytic activity

An aldehyde + NAD+ + H2O = a carboxylate + NADH.

Pathway

Alcohol metabolism; ethanol degradation; acetate from ethanol: step 2/2.

Subunit structure

Homotetramer By similarity.

Subcellular location

Mitochondrion matrix.

Tissue specificity

Liver, testis and to a lesser extent in brain.

Sequence similarities

Belongs to the aldehyde dehydrogenase family.

Ontologies

Keywords
   Cellular componentMitochondrion
   Coding sequence diversityPolymorphism
   DomainTransit peptide
   LigandNAD
   Molecular functionOxidoreductase
   PTMAcetylation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcarbohydrate metabolic process

Non-traceable author statement PubMed 1306115. Source: ProtInc

ethanol catabolic process

Inferred from electronic annotation. Source: UniProtKB-UniPathway

   Cellular_componentintracellular membrane-bounded organelle

Inferred from direct assay. Source: HPA

mitochondrial matrix

Inferred from electronic annotation. Source: UniProtKB-SubCell

mitochondrion

Inferred from direct assay. Source: HPA

nucleus

Inferred from direct assay. Source: HPA

   Molecular_functionaldehyde dehydrogenase (NAD) activity

Inferred from electronic annotation. Source: UniProtKB-EC

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 1717Mitochondrion Potential
Chain18 – 517500Aldehyde dehydrogenase X, mitochondrial
PRO_0000007172

Regions

Nucleotide binding262 – 2676NAD By similarity

Sites

Active site2851Proton acceptor By similarity
Active site3191Nucleophile By similarity
Site1861Transition state stabilizer By similarity

Amino acid modifications

Modified residue511N6-acetyllysine By similarity
Modified residue521N6-acetyllysine; alternate By similarity
Modified residue521N6-succinyllysine; alternate By similarity
Modified residue811N6-succinyllysine By similarity
Modified residue3641N6-acetyllysine; alternate By similarity
Modified residue3641N6-succinyllysine; alternate By similarity
Modified residue3831N6-acetyllysine; alternate By similarity
Modified residue3831N6-succinyllysine; alternate By similarity
Modified residue3991N6-acetyllysine; alternate By similarity
Modified residue3991N6-succinyllysine; alternate By similarity
Modified residue4141N6-acetyllysine; alternate By similarity
Modified residue4141N6-succinyllysine; alternate By similarity
Modified residue4261N6-acetyllysine; alternate By similarity
Modified residue4261N6-succinyllysine; alternate By similarity
Modified residue4291N6-acetyllysine By similarity

Natural variations

Natural variant861A → V in allele ALDHA1B1*2. Ref.7
Corresponds to variant rs2228093 [ dbSNP | Ensembl ].
VAR_002257
Natural variant1071L → R in allele ALDHA1B1*3. Ref.3 Ref.4 Ref.7
Corresponds to variant rs2073478 [ dbSNP | Ensembl ].
VAR_002258
Natural variant2021T → I.
Corresponds to variant rs4646773 [ dbSNP | Ensembl ].
VAR_029891
Natural variant2531V → M. Ref.1 Ref.2 Ref.3 Ref.5
Corresponds to variant rs4878199 [ dbSNP | Ensembl ].
VAR_029892

Experimental info

Sequence conflict181R → L in AAA96830. Ref.1
Sequence conflict1641D → H in AAA96830. Ref.1

Sequences

Sequence LengthMass (Da)Tools
P30837 [UniParc].

Last modified November 2, 2010. Version 3.
Checksum: A12E4F48DD5E789D

FASTA51757,206
        10         20         30         40         50         60 
MLRFLAPRLL SLQGRTARYS SAAALPSPIL NPDIPYNQLF INNEWQDAVS KKTFPTVNPT 

        70         80         90        100        110        120 
TGEVIGHVAE GDRADVDRAV KAAREAFRLG SPWRRMDASE RGRLLNLLAD LVERDRVYLA 

       130        140        150        160        170        180 
SLETLDNGKP FQESYALDLD EVIKVYRYFA GWADKWHGKT IPMDGQHFCF TRHEPVGVCG 

       190        200        210        220        230        240 
QIIPWNFPLV MQGWKLAPAL ATGNTVVMKV AEQTPLSALY LASLIKEAGF PPGVVNIITG 

       250        260        270        280        290        300 
YGPTAGAAIA QHVDVDKVAF TGSTEVGHLI QKAAGDSNLK RVTLELGGKS PSIVLADADM 

       310        320        330        340        350        360 
EHAVEQCHEA LFFNMGQCCC AGSRTFVEES IYNEFLERTV EKAKQRKVGN PFELDTQQGP 

       370        380        390        400        410        420 
QVDKEQFERV LGYIQLGQKE GAKLLCGGER FGERGFFIKP TVFGGVQDDM RIAKEEIFGP 

       430        440        450        460        470        480 
VQPLFKFKKI EEVVERANNT RYGLAAAVFT RDLDKAMYFT QALQAGTVWV NTYNIVTCHT 

       490        500        510 
PFGGFKESGN GRELGEDGLK AYTEVKTVTI KVPQKNS 

« Hide

References

« Hide 'large scale' references
[1]"Cloning and characterization of a new functional human aldehyde dehydrogenase gene."
Hsu L.C., Chang W.-C.
J. Biol. Chem. 266:12257-12265(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT MET-253.
Tissue: Testis.
[2]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT MET-253.
[3]"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. expand/collapse author list , 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], VARIANTS ARG-107 AND MET-253.
Tissue: Testis.
[4]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ARG-107.
[5]"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], VARIANT MET-253.
Tissue: Eye.
[6]"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].
[7]"Diverse polymorphism within a short coding region of the human aldehyde dehydrogenase-5 (ALDH5) gene."
Sherman D., Dave V., Hsu L.C., Peters T.J., Yoshida A.
Hum. Genet. 92:477-480(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS VAL-86 AND ARG-107.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M63967 Genomic DNA. Translation: AAA96830.1.
BT007418 mRNA. Translation: AAP36086.1.
AK313344 mRNA. Translation: BAG36147.1.
AL135785 Genomic DNA. Translation: CAD13246.1.
BC001619 mRNA. Translation: AAH01619.1.
PIRA40872.
RefSeqNP_000683.3. NM_000692.4.
UniGeneHs.436219.
Hs.743532.

3D structure databases

ProteinModelPortalP30837.
SMRP30837. Positions 32-517.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid106721. 16 interactions.
IntActP30837. 7 interactions.
STRING9606.ENSP00000366927.

Chemistry

ChEMBLCHEMBL4881.
DrugBankDB00157. NADH.

PTM databases

PhosphoSiteP30837.

Polymorphism databases

DMDM311033472.

2D gel databases

REPRODUCTION-2DPAGEIPI00103467.

Proteomic databases

PaxDbP30837.
PRIDEP30837.

Protocols and materials databases

DNASU219.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000377698; ENSP00000366927; ENSG00000137124.
GeneID219.
KEGGhsa:219.
UCSCuc004aay.3. human.

Organism-specific databases

CTD219.
GeneCardsGC09P038392.
H-InvDBHIX0008051.
HGNCHGNC:407. ALDH1B1.
HPAHPA021037.
MIM100670. gene.
neXtProtNX_P30837.
PharmGKBPA24695.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1012.
HOGENOMHOG000271505.
HOVERGENHBG000097.
InParanoidP30837.
KOK00128.
OrthoDBEOG7PS1F7.
PhylomeDBP30837.
TreeFamTF300455.

Enzyme and pathway databases

SABIO-RKP30837.
UniPathwayUPA00780; UER00768.

Gene expression databases

ArrayExpressP30837.
BgeeP30837.
CleanExHS_ALDH1B1.
GenevestigatorP30837.

Family and domain databases

Gene3D3.40.309.10. 1 hit.
3.40.605.10. 1 hit.
InterProIPR016161. Ald_DH/histidinol_DH.
IPR016163. Ald_DH_C.
IPR016160. Ald_DH_CS.
IPR016162. Ald_DH_N.
IPR015590. Aldehyde_DH_dom.
[Graphical view]
PfamPF00171. Aldedh. 1 hit.
[Graphical view]
SUPFAMSSF53720. SSF53720. 1 hit.
PROSITEPS00070. ALDEHYDE_DEHYDR_CYS. 1 hit.
PS00687. ALDEHYDE_DEHYDR_GLU. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSALDH1B1. human.
GeneWikiALDH1B1.
GenomeRNAi219.
NextBio886.
PROP30837.
SOURCESearch...

Entry information

Entry nameAL1B1_HUMAN
AccessionPrimary (citable) accession number: P30837
Secondary accession number(s): B2R8F0, Q8WX76, Q9BV45
Entry history
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: November 2, 2010
Last modified: April 16, 2014
This is version 136 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM