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UniProtKB/Swiss-Prot entry P30837


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name AL1B1_HUMAN
Primary accession number P30837
Secondary accession numbers Q8WX76 Q9BV45
Integrated into Swiss-Prot on July 1, 1993
Sequence was last modified on January 9, 2007 (Sequence version 2)
Annotations were last modified on    November 4, 2008 (Entry version 85)
Name and origin of the protein
Protein name Aldehyde dehydrogenase X, mitochondrial [Precursor]
Synonyms EC 1.2.1.3
Aldehyde dehydrogenase family 1 member B1
Aldehyde dehydrogenase 5
Gene name
Name: ALDH1B1
Synonyms: ALDH5, ALDHX
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 2: Evidence at transcript level;
References
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
TISSUE=Testis;
PubMed=2061311 [NCBI, ExPASy, EBI, Israel, Japan]
Hsu L.C., Chang W.-C.;
"Cloning and characterization of a new functional human aldehyde dehydrogenase gene.";
J. Biol. Chem. 266:12257-12265(1991).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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.;
"Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS ARG-107 AND VAL-253.
DOI=10.1038/nature02465; PubMed=15164053 [NCBI, ExPASy, EBI, Israel, Japan]
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., 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.;
"DNA sequence and analysis of human chromosome 9.";
Nature 429:369-374(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Eye;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
VARIANTS VAL-86 AND ARG-107.
DOI=10.1007/BF00216454; PubMed=8244338 [NCBI, ExPASy, EBI, Israel, Japan]
Sherman D., Dave V., Hsu L.C., Peters T.J., Yoshida A.;
"Diverse polymorphism within a short coding region of the human aldehyde dehydrogenase-5 (ALDH5) gene.";
Hum. Genet. 92:477-480(1993).
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
M63967; AAA96830.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BT007418; AAP36086.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL135785; CAD13246.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC001619; AAH01619.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
PIR A40872; A40872.
RefSeq NP_000683.3; -.
UniGene Hs.436219
3D structure databases
HSSP P20000; 1AG8. [HSSP ENTRY / PDB]
SMR P30837; 24-517.
ModBase P30837.
PTM databases
PhosphoSite P30837; -.
2D gel databases
REPRODUCTION-2DPAGE IPI00103467; -.
Organism-specific databases
H-InvDB HIX0008051; -.
HGNC HGNC:407; ALDH1B1.
GenAtlas ALDH1B1.
MIM 100670; gene. [NCBI / EBI]
PharmGKB PA24695; -.
GeneCards P30837.
Gene expression databases
ArrayExpress P30837; -.
CleanEx HS_ALDH1B1; -.
GermOnline ENSG00000137124; Homo sapiens.
Ontologies
GO
GO:0005975; Biological process: carbohydrate metabolic process (non-traceable author statement from ProtInc).
QuickGo view.
Family and domain databases
InterPro IPR016160; Ald_DHase_CS.
IPR016162; Ald_DHase_N.
IPR015590; Aldehyde_DHase.
Graphical view of domain structure.
Gene3D G3DSA:3.40.605.10; Aldehyde_dehydrogenase_N; 1.
PANTHER PTHR11699; Aldehyde_dehyd; 1.
Pfam PF00171; Aldedh; 1.
Pfam graphical view of domain structure.
PROSITE PS00070; ALDEHYDE_DEHYDR_CYS; 1.
PS00687; ALDEHYDE_DEHYDR_GLU; 1.
BLOCKS P30837.
ProtoNet P30837.
Genome annotation databases
Ensembl ENSG00000137124; Homo sapiens. [Contig view]
GeneID 219; -.
KEGG hsa:219; -.
son:SO_1554; -.
Phylogenomic databases
HOGENOM P30837; -.
HOVERGEN P30837; -.
Other
DrugBank DB00157; NADH.
NextBio 886; -.
SOURCE ALDH1B1; Homo sapiens.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Mitochondrion; NAD; Oxidoreductase; Polymorphism; Transit peptide.
Features
SEVIEWER logo Feature table viewer
KeyFrom   To Length Description FTId
TRANSIT   1    17  17     Mitochondrion (Potential). 
CHAIN   18   517  500     Aldehyde dehydrogenase X, mitochondrial. PRO_0000007172
NP_BIND   262   267  6     NAD (By similarity). 
ACT_SITE   285   285        Proton acceptor (By similarity). 
ACT_SITE   319   319        Nucleophile (By similarity). 
SITE   186   186  1     Transition state stabilizer (By similarity). 
VARIANT   86    86  1     A -> V (in allele ALDHA1B1*2; dbSNP:rs2228093 [NCBI]). VAR_002257 [3D]
VARIANT   107   107  1     L -> R (in allele ALDHA1B1*3; dbSNP:rs2073478 [NCBI]). VAR_002258 [3D]
VARIANT   202   202  1     T -> I (in dbSNP:rs4646773 [NCBI]). VAR_029891 [3D]
VARIANT   253   253  1     M -> V (in dbSNP:rs4878199 [NCBI]). VAR_029892 [3D]
CONFLICT   18    18        R -> L (in Ref. 1; AAA96830). 
CONFLICT   164   164        D -> H (in Ref. 1; AAA96830). 
Sequence information
Length: 517 AA [This is the length of the unprocessed precursor] Molecular weight: 57238 Da [This is the MW of the unprocessed precursor] CRC64: A628E448D1E8689D [This is a checksum on the sequence]
        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 QHMDVDKVAF 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 

P30837 in FASTA format

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