ID   AL1B1_HUMAN             Reviewed;         517 AA.
AC   P30837; B2R8F0; Q8WX76; Q9BV45;
DT   01-JUL-1993, integrated into UniProtKB/Swiss-Prot.
DT   09-JAN-2007, sequence version 2.
DT   07-JUL-2009, entry version 94.
DE   RecName: Full=Aldehyde dehydrogenase X, mitochondrial;
DE            EC=1.2.1.3;
DE   AltName: Full=Aldehyde dehydrogenase family 1 member B1;
DE   AltName: Full=Aldehyde dehydrogenase 5;
DE   Flags: Precursor;
GN   Name=ALDH1B1; Synonyms=ALDH5, ALDHX;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RC   TISSUE=Testis;
RX   MEDLINE=91286241; PubMed=2061311;
RA   Hsu L.C., Chang W.-C.;
RT   "Cloning and characterization of a new functional human aldehyde
RT   dehydrogenase gene.";
RL   J. Biol. Chem. 266:12257-12265(1991).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA   Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA   Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA   Phelan M., Farmer A.;
RT   "Cloning of human full-length CDSs in BD Creator(TM) system donor
RT   vector.";
RL   Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ARG-107.
RC   TISSUE=Testis;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS ARG-107
RP   AND VAL-253.
RX   PubMed=15164053; DOI=10.1038/nature02465;
RA   Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E.,
RA   Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C.,
RA   Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S.,
RA   Babbage A.K., Babbage S., Bagguley C.L., Bailey J., Banerjee R.,
RA   Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P.,
RA   Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W.,
RA   Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G.,
RA   Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M.,
RA   Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W.,
RA   Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A.,
RA   Frankland J.A., French L., Fricker D.G., Garner P., Garnett J.,
RA   Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA   Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA   Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA   Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA   Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA   Kimberley A.M., King A., Knights A., Laird G.K., Langford C.,
RA   Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M.,
RA   Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S.,
RA   McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J.,
RA   Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R.,
RA   Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M.,
RA   Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M.,
RA   Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A.,
RA   Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P.,
RA   Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W.,
RA   Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA   Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S.,
RA   Rogers J., Dunham I.;
RT   "DNA sequence and analysis of human chromosome 9.";
RL   Nature 429:369-374(2004).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Eye;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [6]
RP   IDENTIFICATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
RA   Colinge J., Superti-Furga G., Bennett K.L.;
RL   Submitted (OCT-2008) to UniProtKB.
RN   [7]
RP   VARIANTS VAL-86 AND ARG-107.
RX   MEDLINE=94063858; PubMed=8244338; DOI=10.1007/BF00216454;
RA   Sherman D., Dave V., Hsu L.C., Peters T.J., Yoshida A.;
RT   "Diverse polymorphism within a short coding region of the human
RT   aldehyde dehydrogenase-5 (ALDH5) gene.";
RL   Hum. Genet. 92:477-480(1993).
CC   -!- FUNCTION: ALDHs play a major role in the detoxification of
CC       alcohol-derived acetaldehyde. They are involved in the metabolism
CC       of corticosteroids, biogenic amines, neurotransmitters, and lipid
CC       peroxidation.
CC   -!- CATALYTIC ACTIVITY: An aldehyde + NAD(+) + H(2)O = an acid + NADH.
CC   -!- PATHWAY: Alcohol metabolism; ethanol degradation; acetate from
CC       ethanol: step 2/2.
CC   -!- SUBUNIT: Homotetramer (By similarity).
CC   -!- SUBCELLULAR LOCATION: Mitochondrion matrix.
CC   -!- TISSUE SPECIFICITY: Liver, testis and to a lesser extent in brain.
CC   -!- SIMILARITY: Belongs to the aldehyde dehydrogenase family.
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DR   EMBL; M63967; AAA96830.1; -; Genomic_DNA.
DR   EMBL; BT007418; AAP36086.1; -; mRNA.
DR   EMBL; AK313344; BAG36147.1; -; mRNA.
DR   EMBL; AL135785; CAD13246.1; -; Genomic_DNA.
DR   EMBL; BC001619; AAH01619.1; -; mRNA.
DR   IPI; IPI00103467; -.
DR   PIR; A40872; A40872.
DR   RefSeq; NP_000683.3; -.
DR   UniGene; Hs.436219; -.
DR   HSSP; P20000; 1AG8.
DR   SMR; P30837; 24-517.
DR   PhosphoSite; P30837; -.
DR   REPRODUCTION-2DPAGE; IPI00103467; -.
DR   PRIDE; P30837; -.
DR   Ensembl; ENSG00000137124; Homo sapiens.
DR   GeneID; 219; -.
DR   KEGG; hsa:219; -.
DR   GeneCards; GC09P038382; -.
DR   H-InvDB; HIX0008051; -.
DR   HGNC; HGNC:407; ALDH1B1.
DR   MIM; 100670; gene.
DR   PharmGKB; PA24695; -.
DR   HOGENOM; P30837; -.
DR   HOVERGEN; P30837; -.
DR   BRENDA; 1.2.1.3; 247.
DR   DrugBank; DB00157; NADH.
DR   NextBio; 886; -.
DR   ArrayExpress; P30837; -.
DR   Bgee; P30837; -.
DR   CleanEx; HS_ALDH1B1; -.
DR   GermOnline; ENSG00000137124; Homo sapiens.
DR   GO; GO:0005759; C:mitochondrial matrix; IEA:UniProtKB-SubCell.
DR   GO; GO:0004029; F:aldehyde dehydrogenase (NAD) activity; IEA:EC.
DR   GO; GO:0005975; P:carbohydrate metabolic process; NAS:ProtInc.
DR   GO; GO:0055114; P:oxidation reduction; IEA:UniProtKB-KW.
DR   InterPro; IPR016160; Ald_DH_CS.
DR   InterPro; IPR016162; Ald_DH_N.
DR   InterPro; IPR015590; Aldehyde_DH.
DR   Gene3D; G3DSA:3.40.605.10; Aldehyde_dehydrogenase_N; 1.
DR   PANTHER; PTHR11699; Aldehyde_dehyd; 1.
DR   Pfam; PF00171; Aldedh; 1.
DR   PROSITE; PS00070; ALDEHYDE_DEHYDR_CYS; 1.
DR   PROSITE; PS00687; ALDEHYDE_DEHYDR_GLU; 1.
PE   1: Evidence at protein level;
KW   Complete proteome; Mitochondrion; NAD; Oxidoreductase; Polymorphism;
KW   Transit peptide.
FT   TRANSIT       1     17       Mitochondrion (Potential).
FT   CHAIN        18    517       Aldehyde dehydrogenase X, mitochondrial.
FT                                /FTId=PRO_0000007172.
FT   NP_BIND     262    267       NAD (By similarity).
FT   ACT_SITE    285    285       Proton acceptor (By similarity).
FT   ACT_SITE    319    319       Nucleophile (By similarity).
FT   SITE        186    186       Transition state stabilizer (By
FT                                similarity).
FT   VARIANT      86     86       A -> V (in allele ALDHA1B1*2;
FT                                dbSNP:rs2228093).
FT                                /FTId=VAR_002257.
FT   VARIANT     107    107       L -> R (in allele ALDHA1B1*3;
FT                                dbSNP:rs2073478).
FT                                /FTId=VAR_002258.
FT   VARIANT     202    202       T -> I (in dbSNP:rs4646773).
FT                                /FTId=VAR_029891.
FT   VARIANT     253    253       M -> V (in dbSNP:rs4878199).
FT                                /FTId=VAR_029892.
FT   CONFLICT     18     18       R -> L (in Ref. 1; AAA96830).
FT   CONFLICT    164    164       D -> H (in Ref. 1; AAA96830).
SQ   SEQUENCE   517 AA;  57238 MW;  A628E448D1E8689D CRC64;
     MLRFLAPRLL SLQGRTARYS SAAALPSPIL NPDIPYNQLF INNEWQDAVS KKTFPTVNPT
     TGEVIGHVAE GDRADVDRAV KAAREAFRLG SPWRRMDASE RGRLLNLLAD LVERDRVYLA
     SLETLDNGKP FQESYALDLD EVIKVYRYFA GWADKWHGKT IPMDGQHFCF TRHEPVGVCG
     QIIPWNFPLV MQGWKLAPAL ATGNTVVMKV AEQTPLSALY LASLIKEAGF PPGVVNIITG
     YGPTAGAAIA QHMDVDKVAF TGSTEVGHLI QKAAGDSNLK RVTLELGGKS PSIVLADADM
     EHAVEQCHEA LFFNMGQCCC AGSRTFVEES IYNEFLERTV EKAKQRKVGN PFELDTQQGP
     QVDKEQFERV LGYIQLGQKE GAKLLCGGER FGERGFFIKP TVFGGVQDDM RIAKEEIFGP
     VQPLFKFKKI EEVVERANNT RYGLAAAVFT RDLDKAMYFT QALQAGTVWV NTYNIVTCHT
     PFGGFKESGN GRELGEDGLK AYTEVKTVTI KVPQKNS
//