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Q96C23

- GALM_HUMAN

UniProt

Q96C23 - GALM_HUMAN

Protein

Aldose 1-epimerase

Gene

GALM

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 114 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    Mutarotase converts alpha-aldose to the beta-anomer. It is active on D-glucose, L-arabinose, D-xylose, D-galactose, maltose and lactose By similarity.By similarity

    Catalytic activityi

    Alpha-D-glucose = beta-D-glucose.PROSITE-ProRule annotation

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei176 – 1761Proton donor
    Binding sitei243 – 2431Substrate1 Publication
    Active sitei307 – 3071Proton acceptor

    GO - Molecular functioni

    1. aldose 1-epimerase activity Source: UniProt
    2. carbohydrate binding Source: InterPro

    GO - Biological processi

    1. galactose metabolic process Source: UniProt
    2. glucose metabolic process Source: UniProt

    Keywords - Molecular functioni

    Isomerase

    Keywords - Biological processi

    Carbohydrate metabolism

    Enzyme and pathway databases

    BioCyciMetaCyc:HS07125-MONOMER.
    SABIO-RKQ96C23.
    SignaLinkiQ96C23.
    UniPathwayiUPA00242.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Aldose 1-epimerase (EC:5.1.3.3)
    Alternative name(s):
    Galactose mutarotase
    Gene namesi
    Name:GALM
    ORF Names:BLOCK25
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:24063. GALM.

    Subcellular locationi

    Cytoplasm Curated

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. extracellular vesicular exosome Source: UniProt

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi107 – 1071H → A: Reduces activity over 5-fold. 1 Publication
    Mutagenesisi176 – 1761H → A: Loss of activity. 1 Publication
    Mutagenesisi307 – 3071E → A: Loss of activity. 1 Publication

    Organism-specific databases

    PharmGKBiPA134980075.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 342341Aldose 1-epimerasePRO_0000197433Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ96C23.
    PaxDbiQ96C23.
    PeptideAtlasiQ96C23.
    PRIDEiQ96C23.

    PTM databases

    PhosphoSiteiQ96C23.

    Expressioni

    Gene expression databases

    ArrayExpressiQ96C23.
    BgeeiQ96C23.
    CleanExiHS_GALM.
    GenevestigatoriQ96C23.

    Organism-specific databases

    HPAiHPA035472.

    Interactioni

    Subunit structurei

    Monomer.1 Publication

    Protein-protein interaction databases

    IntActiQ96C23. 1 interaction.
    MINTiMINT-5001489.
    STRINGi9606.ENSP00000272252.

    Structurei

    Secondary structure

    1
    342
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi3 – 1210
    Turni13 – 164
    Beta strandi17 – 259
    Beta strandi30 – 345
    Beta strandi39 – 468
    Beta strandi52 – 543
    Helixi62 – 665
    Beta strandi81 – 833
    Helixi84 – 863
    Beta strandi87 – 904
    Beta strandi93 – 964
    Beta strandi104 – 1063
    Beta strandi109 – 1113
    Helixi113 – 1153
    Beta strandi119 – 1235
    Beta strandi126 – 1338
    Helixi137 – 1393
    Beta strandi144 – 15310
    Beta strandi156 – 16712
    Beta strandi193 – 1964
    Beta strandi198 – 2014
    Helixi230 – 2367
    Beta strandi243 – 2486
    Beta strandi251 – 2533
    Beta strandi255 – 2617
    Turni263 – 2653
    Beta strandi267 – 28115
    Beta strandi287 – 2915
    Helixi293 – 2953
    Beta strandi297 – 2993
    Beta strandi304 – 3107
    Helixi314 – 3163
    Beta strandi331 – 34111

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1SNZX-ray2.20A/B1-342[»]
    1SO0X-ray2.30A/B/C/D1-342[»]
    ProteinModelPortaliQ96C23.
    SMRiQ96C23. Positions 1-342.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ96C23.

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni81 – 822Substrate binding

    Sequence similaritiesi

    Belongs to the aldose epimerase family.Curated

    Phylogenomic databases

    eggNOGiCOG2017.
    HOGENOMiHOG000072798.
    HOVERGENiHBG051697.
    InParanoidiQ96C23.
    KOiK01785.
    OMAiKRFCARV.
    OrthoDBiEOG7V7666.
    PhylomeDBiQ96C23.
    TreeFamiTF324207.

    Family and domain databases

    Gene3Di2.70.98.10. 1 hit.
    InterProiIPR018052. Ald1_epimerase_CS.
    IPR015443. Aldose_1-epimerase.
    IPR008183. Aldose_1/G6P_1-epimerase.
    IPR011013. Gal_mutarotase_SF_dom.
    IPR014718. Glyco_hydro-type_carb-bd_sub.
    [Graphical view]
    PfamiPF01263. Aldose_epim. 1 hit.
    [Graphical view]
    PIRSFiPIRSF005096. GALM. 1 hit.
    SUPFAMiSSF74650. SSF74650. 1 hit.
    PROSITEiPS00545. ALDOSE_1_EPIMERASE. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    Q96C23-1 [UniParc]FASTAAdd to Basket

    « Hide

    MASVTRAVFG ELPSGGGTVE KFQLQSDLLR VDIISWGCTI TALEVKDRQG    50
    RASDVVLGFA ELEGYLQKQP YFGAVIGRVA NRIAKGTFKV DGKEYHLAIN 100
    KEPNSLHGGV RGFDKVLWTP RVLSNGVQFS RISPDGEEGY PGELKVWVTY 150
    TLDGGELIVN YRAQASQATP VNLTNHSYFN LAGQASPNIN DHEVTIEADT 200
    YLPVDETLIP TGEVAPVQGT AFDLRKPVEL GKHLQDFHLN GFDHNFCLKG 250
    SKEKHFCARV HHAASGRVLE VYTTQPGVQF YTGNFLDGTL KGKNGAVYPK 300
    HSGFCLETQN WPDAVNQPRF PPVLLRPGEE YDHTTWFKFS VA 342
    Length:342
    Mass (Da):37,766
    Last modified:December 1, 2001 - v1
    Checksum:i611A54AE7E85813E
    GO

    Sequence cautioni

    The sequence AAL62475.1 differs from that shown. Reason: Erroneous gene model prediction.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti190 – 1901N → Y.
    Corresponds to variant rs6741892 [ dbSNP | Ensembl ].
    VAR_024451

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY064382
    , AY064381, AY064379, AY064380, AY064378 Genomic DNA. Translation: AAL62475.1. Sequence problems.
    AY064385
    , AY064378, AY064380, AY064379, AY064381, AY064384, AY064383 Genomic DNA. Translation: AAL62476.1.
    EU794611 mRNA. Translation: ACJ13665.1.
    AK291489 mRNA. Translation: BAF84178.1.
    AC074366 Genomic DNA. Translation: AAX93101.1.
    CH471053 Genomic DNA. Translation: EAX00367.1.
    BC014916 mRNA. Translation: AAH14916.1.
    BC019263 mRNA. Translation: AAH19263.1.
    CCDSiCCDS1797.1.
    RefSeqiNP_620156.1. NM_138801.2.
    UniGeneiHs.435012.

    Genome annotation databases

    EnsembliENST00000272252; ENSP00000272252; ENSG00000143891.
    GeneIDi130589.
    KEGGihsa:130589.
    UCSCiuc002rqy.3. human.

    Polymorphism databases

    DMDMi67463772.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY064382
    , AY064381 , AY064379 , AY064380 , AY064378 Genomic DNA. Translation: AAL62475.1 . Sequence problems.
    AY064385
    , AY064378 , AY064380 , AY064379 , AY064381 , AY064384 , AY064383 Genomic DNA. Translation: AAL62476.1 .
    EU794611 mRNA. Translation: ACJ13665.1 .
    AK291489 mRNA. Translation: BAF84178.1 .
    AC074366 Genomic DNA. Translation: AAX93101.1 .
    CH471053 Genomic DNA. Translation: EAX00367.1 .
    BC014916 mRNA. Translation: AAH14916.1 .
    BC019263 mRNA. Translation: AAH19263.1 .
    CCDSi CCDS1797.1.
    RefSeqi NP_620156.1. NM_138801.2.
    UniGenei Hs.435012.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1SNZ X-ray 2.20 A/B 1-342 [» ]
    1SO0 X-ray 2.30 A/B/C/D 1-342 [» ]
    ProteinModelPortali Q96C23.
    SMRi Q96C23. Positions 1-342.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q96C23. 1 interaction.
    MINTi MINT-5001489.
    STRINGi 9606.ENSP00000272252.

    PTM databases

    PhosphoSitei Q96C23.

    Polymorphism databases

    DMDMi 67463772.

    Proteomic databases

    MaxQBi Q96C23.
    PaxDbi Q96C23.
    PeptideAtlasi Q96C23.
    PRIDEi Q96C23.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000272252 ; ENSP00000272252 ; ENSG00000143891 .
    GeneIDi 130589.
    KEGGi hsa:130589.
    UCSCi uc002rqy.3. human.

    Organism-specific databases

    CTDi 130589.
    GeneCardsi GC02P038867.
    HGNCi HGNC:24063. GALM.
    HPAi HPA035472.
    MIMi 608883. gene.
    neXtProti NX_Q96C23.
    PharmGKBi PA134980075.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2017.
    HOGENOMi HOG000072798.
    HOVERGENi HBG051697.
    InParanoidi Q96C23.
    KOi K01785.
    OMAi KRFCARV.
    OrthoDBi EOG7V7666.
    PhylomeDBi Q96C23.
    TreeFami TF324207.

    Enzyme and pathway databases

    UniPathwayi UPA00242 .
    BioCyci MetaCyc:HS07125-MONOMER.
    SABIO-RK Q96C23.
    SignaLinki Q96C23.

    Miscellaneous databases

    ChiTaRSi GALM. human.
    EvolutionaryTracei Q96C23.
    GeneWikii Galactose_mutarotase.
    GenomeRNAii 130589.
    NextBioi 82783.
    PROi Q96C23.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96C23.
    Bgeei Q96C23.
    CleanExi HS_GALM.
    Genevestigatori Q96C23.

    Family and domain databases

    Gene3Di 2.70.98.10. 1 hit.
    InterProi IPR018052. Ald1_epimerase_CS.
    IPR015443. Aldose_1-epimerase.
    IPR008183. Aldose_1/G6P_1-epimerase.
    IPR011013. Gal_mutarotase_SF_dom.
    IPR014718. Glyco_hydro-type_carb-bd_sub.
    [Graphical view ]
    Pfami PF01263. Aldose_epim. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF005096. GALM. 1 hit.
    SUPFAMi SSF74650. SSF74650. 1 hit.
    PROSITEi PS00545. ALDOSE_1_EPIMERASE. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Physical/genetic map of the 2p22-2p21 region on chromosome 2."
      Gorry M.C., Zhang Y., Marks J.J., Suppes B., Hart P.S., Cortelli J.R., Pallos D., Hart T.C.
      Submitted (NOV-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. Li J.Y., Wang H.Y., Liu F.J., Liu J.
      Submitted (JUN-2008) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    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].
      Tissue: Ovary.
    4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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: Brain and Skin.
    7. "Identification and characterisation of human aldose 1-epimerase."
      Timson D.J., Reece R.J.
      FEBS Lett. 543:21-24(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, MUTAGENESIS OF HIS-107; HIS-176 AND GLU-307.
    8. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. Cited for: X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) IN COMPLEX WITH SUBSTRATE, FUNCTION.

    Entry informationi

    Entry nameiGALM_HUMAN
    AccessioniPrimary (citable) accession number: Q96C23
    Secondary accession number(s): Q53RY1, Q8NIA2, V9HWA8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 10, 2005
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 114 of the entry and version 1 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3