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P30837

- AL1B1_HUMAN

UniProt

P30837 - AL1B1_HUMAN

Protein

Aldehyde dehydrogenase X, mitochondrial

Gene

ALDH1B1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 140 (01 Oct 2014)
      Sequence version 3 (02 Nov 2010)
      Previous versions | rss
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    Functioni

    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 activityi

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

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei186 – 1861Transition state stabilizerBy similarity
    Active sitei285 – 2851Proton acceptorPROSITE-ProRule annotation
    Active sitei319 – 3191NucleophilePROSITE-ProRule annotation

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi262 – 2676NADBy similarity

    GO - Molecular functioni

    1. aldehyde dehydrogenase (NAD) activity Source: UniProtKB-EC

    GO - Biological processi

    1. carbohydrate metabolic process Source: ProtInc
    2. ethanol catabolic process Source: UniProtKB-UniPathway

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Ligandi

    NAD

    Enzyme and pathway databases

    SABIO-RKP30837.
    UniPathwayiUPA00780; UER00768.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Aldehyde dehydrogenase X, mitochondrial (EC:1.2.1.3)
    Alternative name(s):
    Aldehyde dehydrogenase 5
    Aldehyde dehydrogenase family 1 member B1
    Gene namesi
    Name:ALDH1B1
    Synonyms:ALDH5, ALDHX
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:407. ALDH1B1.

    Subcellular locationi

    GO - Cellular componenti

    1. intracellular membrane-bounded organelle Source: HPA
    2. mitochondrial matrix Source: UniProtKB-SubCell
    3. mitochondrion Source: HPA
    4. nucleus Source: HPA

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA24695.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 1717MitochondrionSequence AnalysisAdd
    BLAST
    Chaini18 – 517500Aldehyde dehydrogenase X, mitochondrialPRO_0000007172Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei51 – 511N6-acetyllysineBy similarity
    Modified residuei52 – 521N6-acetyllysine; alternateBy similarity
    Modified residuei52 – 521N6-succinyllysine; alternateBy similarity
    Modified residuei81 – 811N6-succinyllysineBy similarity
    Modified residuei364 – 3641N6-acetyllysine; alternateBy similarity
    Modified residuei364 – 3641N6-succinyllysine; alternateBy similarity
    Modified residuei383 – 3831N6-acetyllysine; alternateBy similarity
    Modified residuei383 – 3831N6-succinyllysine; alternateBy similarity
    Modified residuei399 – 3991N6-acetyllysine; alternateBy similarity
    Modified residuei399 – 3991N6-succinyllysine; alternateBy similarity
    Modified residuei414 – 4141N6-acetyllysine; alternateBy similarity
    Modified residuei414 – 4141N6-succinyllysine; alternateBy similarity
    Modified residuei426 – 4261N6-acetyllysine; alternateBy similarity
    Modified residuei426 – 4261N6-succinyllysine; alternateBy similarity
    Modified residuei429 – 4291N6-acetyllysineBy similarity

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiP30837.
    PaxDbiP30837.
    PRIDEiP30837.

    2D gel databases

    REPRODUCTION-2DPAGEIPI00103467.

    PTM databases

    PhosphoSiteiP30837.

    Expressioni

    Tissue specificityi

    Liver, testis and to a lesser extent in brain.

    Gene expression databases

    ArrayExpressiP30837.
    BgeeiP30837.
    CleanExiHS_ALDH1B1.
    GenevestigatoriP30837.

    Organism-specific databases

    HPAiHPA021037.

    Interactioni

    Subunit structurei

    Homotetramer.By similarity

    Protein-protein interaction databases

    BioGridi106721. 16 interactions.
    IntActiP30837. 6 interactions.
    STRINGi9606.ENSP00000366927.

    Structurei

    3D structure databases

    ProteinModelPortaliP30837.
    SMRiP30837. Positions 32-517.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the aldehyde dehydrogenase family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG1012.
    HOGENOMiHOG000271505.
    HOVERGENiHBG000097.
    InParanoidiP30837.
    KOiK00128.
    OrthoDBiEOG7PS1F7.
    PhylomeDBiP30837.
    TreeFamiTF300455.

    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]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P30837-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLRFLAPRLL SLQGRTARYS SAAALPSPIL NPDIPYNQLF INNEWQDAVS    50
    KKTFPTVNPT TGEVIGHVAE GDRADVDRAV KAAREAFRLG SPWRRMDASE 100
    RGRLLNLLAD LVERDRVYLA SLETLDNGKP FQESYALDLD EVIKVYRYFA 150
    GWADKWHGKT IPMDGQHFCF TRHEPVGVCG QIIPWNFPLV MQGWKLAPAL 200
    ATGNTVVMKV AEQTPLSALY LASLIKEAGF PPGVVNIITG YGPTAGAAIA 250
    QHVDVDKVAF TGSTEVGHLI QKAAGDSNLK RVTLELGGKS PSIVLADADM 300
    EHAVEQCHEA LFFNMGQCCC AGSRTFVEES IYNEFLERTV EKAKQRKVGN 350
    PFELDTQQGP QVDKEQFERV LGYIQLGQKE GAKLLCGGER FGERGFFIKP 400
    TVFGGVQDDM RIAKEEIFGP VQPLFKFKKI EEVVERANNT RYGLAAAVFT 450
    RDLDKAMYFT QALQAGTVWV NTYNIVTCHT PFGGFKESGN GRELGEDGLK 500
    AYTEVKTVTI KVPQKNS 517
    Length:517
    Mass (Da):57,206
    Last modified:November 2, 2010 - v3
    Checksum:iA12E4F48DD5E789D
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti18 – 181R → L in AAA96830. (PubMed:2061311)Curated
    Sequence conflicti164 – 1641D → H in AAA96830. (PubMed:2061311)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti86 – 861A → V in allele ALDHA1B1*2. 1 Publication
    Corresponds to variant rs2228093 [ dbSNP | Ensembl ].
    VAR_002257
    Natural varianti107 – 1071L → R in allele ALDHA1B1*3. 3 Publications
    Corresponds to variant rs2073478 [ dbSNP | Ensembl ].
    VAR_002258
    Natural varianti202 – 2021T → I.
    Corresponds to variant rs4646773 [ dbSNP | Ensembl ].
    VAR_029891
    Natural varianti253 – 2531V → M.4 Publications
    Corresponds to variant rs4878199 [ dbSNP | Ensembl ].
    VAR_029892

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS6615.1.
    PIRiA40872.
    RefSeqiNP_000683.3. NM_000692.4.
    UniGeneiHs.436219.
    Hs.743532.

    Genome annotation databases

    EnsembliENST00000377698; ENSP00000366927; ENSG00000137124.
    GeneIDi219.
    KEGGihsa:219.
    UCSCiuc004aay.3. human.

    Polymorphism databases

    DMDMi311033472.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS6615.1.
    PIRi A40872.
    RefSeqi NP_000683.3. NM_000692.4.
    UniGenei Hs.436219.
    Hs.743532.

    3D structure databases

    ProteinModelPortali P30837.
    SMRi P30837. Positions 32-517.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106721. 16 interactions.
    IntActi P30837. 6 interactions.
    STRINGi 9606.ENSP00000366927.

    Chemistry

    ChEMBLi CHEMBL4881.
    DrugBanki DB00157. NADH.

    PTM databases

    PhosphoSitei P30837.

    Polymorphism databases

    DMDMi 311033472.

    2D gel databases

    REPRODUCTION-2DPAGE IPI00103467.

    Proteomic databases

    MaxQBi P30837.
    PaxDbi P30837.
    PRIDEi P30837.

    Protocols and materials databases

    DNASUi 219.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000377698 ; ENSP00000366927 ; ENSG00000137124 .
    GeneIDi 219.
    KEGGi hsa:219.
    UCSCi uc004aay.3. human.

    Organism-specific databases

    CTDi 219.
    GeneCardsi GC09P038392.
    H-InvDB HIX0008051.
    HGNCi HGNC:407. ALDH1B1.
    HPAi HPA021037.
    MIMi 100670. gene.
    neXtProti NX_P30837.
    PharmGKBi PA24695.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1012.
    HOGENOMi HOG000271505.
    HOVERGENi HBG000097.
    InParanoidi P30837.
    KOi K00128.
    OrthoDBi EOG7PS1F7.
    PhylomeDBi P30837.
    TreeFami TF300455.

    Enzyme and pathway databases

    UniPathwayi UPA00780 ; UER00768 .
    SABIO-RK P30837.

    Miscellaneous databases

    ChiTaRSi ALDH1B1. human.
    GeneWikii ALDH1B1.
    GenomeRNAii 219.
    NextBioi 886.
    PROi P30837.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P30837.
    Bgeei P30837.
    CleanExi HS_ALDH1B1.
    Genevestigatori P30837.

    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

    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.
      , 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.
      , 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. 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.

    Entry informationi

    Entry nameiAL1B1_HUMAN
    AccessioniPrimary (citable) accession number: P30837
    Secondary accession number(s): B2R8F0, Q8WX76, Q9BV45
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 1, 1993
    Last sequence update: November 2, 2010
    Last modified: October 1, 2014
    This is version 140 of the entry and version 3 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 9
      Human chromosome 9: 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. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3