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P47895

- AL1A3_HUMAN

UniProt

P47895 - AL1A3_HUMAN

Protein

Aldehyde dehydrogenase family 1 member A3

Gene

ALDH1A3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 132 (01 Oct 2014)
      Sequence version 2 (27 Sep 2004)
      Previous versions | rss
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    Functioni

    Recognizes as substrates free retinal and cellular retinol-binding protein-bound retinal. Seems to be the key enzyme in the formation of an RA gradient along the dorso-ventral axis during the early eye development and also in the development of the olfactory system By similarity.By similarity

    Catalytic activityi

    An aldehyde + NAD(P)+ + H2O = a carboxylate + NAD(P)H.

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei181 – 1811Transition state stabilizerBy similarity
    Active sitei280 – 2801Proton acceptorPROSITE-ProRule annotation
    Active sitei314 – 3141NucleophilePROSITE-ProRule annotation

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi257 – 2626NADBy similarity

    GO - Molecular functioni

    1. aldehyde dehydrogenase (NAD) activity Source: Ensembl
    2. aldehyde dehydrogenase [NAD(P)+] activity Source: UniProtKB
    3. NAD+ binding Source: Ensembl
    4. protein homodimerization activity Source: UniProtKB
    5. thyroid hormone binding Source: Ensembl

    GO - Biological processi

    1. embryonic eye morphogenesis Source: UniProtKB
    2. face development Source: Ensembl
    3. inner ear morphogenesis Source: Ensembl
    4. locomotory behavior Source: Ensembl
    5. neuromuscular process controlling balance Source: Ensembl
    6. nucleus accumbens development Source: Ensembl
    7. olfactory pit development Source: Ensembl
    8. optic cup morphogenesis involved in camera-type eye development Source: Ensembl
    9. positive regulation of apoptotic process Source: Ensembl
    10. retinal metabolic process Source: UniProtKB
    11. retinoic acid biosynthetic process Source: Ensembl
    12. retinoic acid metabolic process Source: UniProtKB
    13. retinol metabolic process Source: UniProtKB-UniPathway
    14. righting reflex Source: Ensembl

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Ligandi

    NAD

    Enzyme and pathway databases

    BioCyciMetaCyc:HS00013-MONOMER.
    UniPathwayiUPA00912.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Aldehyde dehydrogenase family 1 member A3 (EC:1.2.1.5)
    Alternative name(s):
    Aldehyde dehydrogenase 6
    Retinaldehyde dehydrogenase 3
    Short name:
    RALDH-3
    Short name:
    RalDH3
    Gene namesi
    Name:ALDH1A3
    Synonyms:ALDH6
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:409. ALDH1A3.

    Subcellular locationi

    Cytoplasm By similarity

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti89 – 891R → C in MCOP8; does not affect ALDH1A3 expression; results in strongly reduced protein levels. 1 Publication
    VAR_069322
    Natural varianti145 – 1451A → V in MCOP8. 1 Publication
    VAR_069323
    Natural varianti369 – 3691I → F in MCOP8. 1 Publication
    VAR_069324
    Natural varianti493 – 4931A → P in MCOP8; does not affect ALDH1A3 expression; results in strongly reduced protein levels. 1 Publication
    VAR_069325

    Keywords - Diseasei

    Disease mutation, Microphthalmia

    Organism-specific databases

    MIMi615113. phenotype.
    Orphaneti2542. Isolated anophthalmia - microphthalmia.
    PharmGKBiPA24694.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed2 Publications
    Chaini2 – 512511Aldehyde dehydrogenase family 1 member A3PRO_0000056478Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine2 Publications

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiP47895.
    PaxDbiP47895.
    PeptideAtlasiP47895.
    PRIDEiP47895.

    PTM databases

    PhosphoSiteiP47895.

    Expressioni

    Tissue specificityi

    Expressed at low levels in many tissues and at higher levels in salivary gland, stomach, and kidney.

    Gene expression databases

    ArrayExpressiP47895.
    BgeeiP47895.
    CleanExiHS_ALDH1A3.
    GenevestigatoriP47895.

    Organism-specific databases

    HPAiHPA046271.

    Interactioni

    Protein-protein interaction databases

    BioGridi106722. 2 interactions.
    STRINGi9606.ENSP00000332256.

    Structurei

    3D structure databases

    ProteinModelPortaliP47895.
    SMRiP47895. Positions 20-511.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the aldehyde dehydrogenase family.Curated

    Phylogenomic databases

    eggNOGiCOG1012.
    HOGENOMiHOG000271505.
    HOVERGENiHBG000097.
    InParanoidiP47895.
    KOiK00129.
    OMAiHAQTPFG.
    PhylomeDBiP47895.
    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.

    P47895-1 [UniParc]FASTAAdd to Basket

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    MATANGAVEN GQPDRKPPAL PRPIRNLEVK FTKIFINNEW HESKSGKKFA    50
    TCNPSTREQI CEVEEGDKPD VDKAVEAAQV AFQRGSPWRR LDALSRGRLL 100
    HQLADLVERD RATLAALETM DTGKPFLHAF FIDLEGCIRT LRYFAGWADK 150
    IQGKTIPTDD NVVCFTRHEP IGVCGAITPW NFPLLMLVWK LAPALCCGNT 200
    MVLKPAEQTP LTALYLGSLI KEAGFPPGVV NIVPGFGPTV GAAISSHPQI 250
    NKIAFTGSTE VGKLVKEAAS RSNLKRVTLE LGGKNPCIVC ADADLDLAVE 300
    CAHQGVFFNQ GQCCTAASRV FVEEQVYSEF VRRSVEYAKK RPVGDPFDVK 350
    TEQGPQIDQK QFDKILELIE SGKKEGAKLE CGGSAMEDKG LFIKPTVFSE 400
    VTDNMRIAKE EIFGPVQPIL KFKSIEEVIK RANSTDYGLT AAVFTKNLDK 450
    ALKLASALES GTVWINCYNA LYAQAPFGGF KMSGNGRELG EYALAEYTEV 500
    KTVTIKLGDK NP 512
    Length:512
    Mass (Da):56,108
    Last modified:September 27, 2004 - v2
    Checksum:i1BFCF4F56F0FE89A
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti15 – 151R → G in AAA79036. (PubMed:7698756)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti89 – 891R → C in MCOP8; does not affect ALDH1A3 expression; results in strongly reduced protein levels. 1 Publication
    VAR_069322
    Natural varianti145 – 1451A → V in MCOP8. 1 Publication
    VAR_069323
    Natural varianti369 – 3691I → F in MCOP8. 1 Publication
    VAR_069324
    Natural varianti386 – 3861M → V.
    Corresponds to variant rs3803430 [ dbSNP | Ensembl ].
    VAR_019706
    Natural varianti493 – 4931A → P in MCOP8; does not affect ALDH1A3 expression; results in strongly reduced protein levels. 1 Publication
    VAR_069325

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U07919 mRNA. Translation: AAA79036.1.
    BC069274 mRNA. Translation: AAH69274.1.
    CCDSiCCDS10389.1.
    PIRiA55684.
    RefSeqiNP_000684.2. NM_000693.2.
    UniGeneiHs.459538.

    Genome annotation databases

    EnsembliENST00000329841; ENSP00000332256; ENSG00000184254.
    GeneIDi220.
    KEGGihsa:220.
    UCSCiuc002bwn.4. human.

    Polymorphism databases

    DMDMi52788258.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U07919 mRNA. Translation: AAA79036.1 .
    BC069274 mRNA. Translation: AAH69274.1 .
    CCDSi CCDS10389.1.
    PIRi A55684.
    RefSeqi NP_000684.2. NM_000693.2.
    UniGenei Hs.459538.

    3D structure databases

    ProteinModelPortali P47895.
    SMRi P47895. Positions 20-511.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106722. 2 interactions.
    STRINGi 9606.ENSP00000332256.

    Chemistry

    DrugBanki DB00157. NADH.
    DB00162. Vitamin A.

    PTM databases

    PhosphoSitei P47895.

    Polymorphism databases

    DMDMi 52788258.

    Proteomic databases

    MaxQBi P47895.
    PaxDbi P47895.
    PeptideAtlasi P47895.
    PRIDEi P47895.

    Protocols and materials databases

    DNASUi 220.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000329841 ; ENSP00000332256 ; ENSG00000184254 .
    GeneIDi 220.
    KEGGi hsa:220.
    UCSCi uc002bwn.4. human.

    Organism-specific databases

    CTDi 220.
    GeneCardsi GC15P101419.
    H-InvDB HIX0026851.
    HGNCi HGNC:409. ALDH1A3.
    HPAi HPA046271.
    MIMi 600463. gene.
    615113. phenotype.
    neXtProti NX_P47895.
    Orphaneti 2542. Isolated anophthalmia - microphthalmia.
    PharmGKBi PA24694.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1012.
    HOGENOMi HOG000271505.
    HOVERGENi HBG000097.
    InParanoidi P47895.
    KOi K00129.
    OMAi HAQTPFG.
    PhylomeDBi P47895.
    TreeFami TF300455.

    Enzyme and pathway databases

    UniPathwayi UPA00912 .
    BioCyci MetaCyc:HS00013-MONOMER.

    Miscellaneous databases

    GeneWikii ALDH1A3.
    GenomeRNAii 220.
    NextBioi 890.
    PROi P47895.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P47895.
    Bgeei P47895.
    CleanExi HS_ALDH1A3.
    Genevestigatori P47895.

    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. "Molecular cloning, genomic organization, and chromosomal localization of an additional human aldehyde dehydrogenase gene, ALDH6."
      Hsu L.C., Chang W.-C., Hiraoka L., Hsieh C.-L.
      Genomics 24:333-341(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Salivary gland.
    2. "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].
      Tissue: Pancreas.
    3. Bienvenut W.V., Dozynkiewicz M., Norman J.C.
      Submitted (MAR-2009) to UniProtKB
      Cited for: PROTEIN SEQUENCE OF 2-15; 253-263; 407-421; 432-446 AND 488-501, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: Ovarian carcinoma.
    4. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    5. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    6. "ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm."
      Yahyavi M., Abouzeid H., Gawdat G., de Preux A.S., Xiao T., Bardakjian T., Schneider A., Choi A., Jorgenson E., Baier H., El Sada M., Schorderet D.F., Slavotinek A.M.
      Hum. Mol. Genet. 22:3250-3258(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN MCOP8.
    7. Cited for: VARIANTS MCOP8 CYS-89 AND PRO-493, CHARACTERIZATION OF VARIANTS MCOP8 CYS-89 AND PRO-493.
    8. Cited for: VARIANTS MCOP8 VAL-145 AND PHE-369.

    Entry informationi

    Entry nameiAL1A3_HUMAN
    AccessioniPrimary (citable) accession number: P47895
    Secondary accession number(s): Q6NT64
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1996
    Last sequence update: September 27, 2004
    Last modified: October 1, 2014
    This is version 132 of the entry and version 2 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, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: 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