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Q8TET4

- GANC_HUMAN

UniProt

Q8TET4 - GANC_HUMAN

Protein

Neutral alpha-glucosidase C

Gene

GANC

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 104 (01 Oct 2014)
      Sequence version 3 (18 May 2010)
      Previous versions | rss
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    Functioni

    Has alpha-glucosidase activity.1 Publication

    Catalytic activityi

    Hydrolysis of terminal, non-reducing (1->4)-linked alpha-D-glucose residues with release of alpha-D-glucose.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei511 – 5111NucleophilePROSITE-ProRule annotation
    Active sitei514 – 5141By similarity
    Active sitei587 – 5871Proton donorBy similarity

    GO - Molecular functioni

    1. alpha-1,4-glucosidase activity Source: UniProtKB
    2. carbohydrate binding Source: InterPro
    3. maltose alpha-glucosidase activity Source: UniProtKB-EC

    GO - Biological processi

    1. carbohydrate metabolic process Source: InterPro

    Keywords - Molecular functioni

    Glycosidase, Hydrolase

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Neutral alpha-glucosidase C (EC:3.2.1.20)
    Gene namesi
    Name:GANC
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:4139. GANC.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA28552.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 914914Neutral alpha-glucosidase CPRO_0000185364Add
    BLAST

    Proteomic databases

    MaxQBiQ8TET4.
    PaxDbiQ8TET4.
    PRIDEiQ8TET4.

    PTM databases

    PhosphoSiteiQ8TET4.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8TET4.
    BgeeiQ8TET4.
    GenevestigatoriQ8TET4.

    Organism-specific databases

    HPAiHPA016949.

    Interactioni

    Protein-protein interaction databases

    BioGridi108866. 1 interaction.
    STRINGi9606.ENSP00000326227.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8TET4.
    SMRiQ8TET4. Positions 224-868.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the glycosyl hydrolase 31 family.Curated

    Phylogenomic databases

    eggNOGiCOG1501.
    HOGENOMiHOG000115864.
    HOVERGENiHBG051683.
    InParanoidiQ8TET4.
    KOiK12317.
    OMAiLKCHITA.
    OrthoDBiEOG7VQJDS.
    PhylomeDBiQ8TET4.
    TreeFamiTF300337.

    Family and domain databases

    InterProiIPR011013. Gal_mutarotase_SF_dom.
    IPR000322. Glyco_hydro_31.
    IPR025887. Glyco_hydro_31_N_dom.
    IPR017853. Glycoside_hydrolase_SF.
    [Graphical view]
    PfamiPF13802. Gal_mutarotas_2. 1 hit.
    PF01055. Glyco_hydro_31. 1 hit.
    [Graphical view]
    SUPFAMiSSF51445. SSF51445. 1 hit.
    SSF74650. SSF74650. 2 hits.
    PROSITEiPS00129. GLYCOSYL_HYDROL_F31_1. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q8TET4-1 [UniParc]FASTAAdd to Basket

    « Hide

    MEAAVKEEIS LEDEAVDKNI FRDCNKIAFY RRQKQWLSKK STYQALLDSV    50
    TTDEDSTRFQ IINEASKVPL LAEIYGIEGN IFRLKINEET PLKPRFEVPD 100
    VLTSKPSTVR LISCSGDTGS LILADGKGDL KCHITANPFK VDLVSEEEVV 150
    ISINSLGQLY FEHLQILHKQ RAAKENEEET SVDTSQENQE DLGLWEEKFG 200
    KFVDIKANGP SSIGLDFSLH GFEHLYGIPQ HAESHQLKNT GDGDAYRLYN 250
    LDVYGYQIYD KMGIYGSVPY LLAHKLGRTI GIFWLNASET LVEINTEPAV 300
    EYTLTQMGPV AAKQKVRSRT HVHWMSESGI IDVFLLTGPT PSDVFKQYSH 350
    LTGTQAMPPL FSLGYHQCRW NYEDEQDVKA VDAGFDEHDI PYDAMWLDIE 400
    HTEGKRYFTW DKNRFPNPKR MQELLRSKKR KLVVISDPHI KIDPDYSVYV 450
    KAKDQGFFVK NQEGEDFEGV CWPGLSSYLD FTNPKVREWY SSLFAFPVYQ 500
    GSTDILFLWN DMNEPSVFRG PEQTMQKNAI HHGNWEHREL HNIYGFYHQM 550
    ATAEGLIKRS KGKERPFVLT RSFFAGSQKY GAVWTGDNTA EWSNLKISIP 600
    MLLTLSITGI SFCGADIGGF IGNPETELLV RWYQAGAYQP FFRGHATMNT 650
    KRREPWLFGE EHTRLIREAI RERYGLLPYW YSLFYHAHVA SQPVMRPLWV 700
    EFPDELKTFD MEDEYMLGSA LLVHPVTEPK ATTVDVFLPG SNEVWYDYKT 750
    FAHWEGGCTV KIPVALDTIP VFQRGGSVIP IKTTVGKSTG WMTESSYGLR 800
    VALSTKGSSV GELYLDDGHS FQYLHQKQFL HRKFSFCSSV LINSFADQRG 850
    HYPSKCVVEK ILVLGFRKEP SSVTTHSSDG KDQPVAFTYC AKTSILSLEK 900
    LSLNIATDWE VRII 914
    Length:914
    Mass (Da):104,334
    Last modified:May 18, 2010 - v3
    Checksum:i7AA10E180DA7FDC2
    GO

    Sequence cautioni

    The sequence BAB84863.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti180 – 1801T → A in AAO14993. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti11 – 111L → V.3 Publications
    Corresponds to variant rs8043515 [ dbSNP | Ensembl ].
    VAR_018984
    Natural varianti44 – 441Q → R.3 Publications
    Corresponds to variant rs8024732 [ dbSNP | Ensembl ].
    VAR_018985
    Natural varianti153 – 1531I → M.1 Publication
    Corresponds to variant rs75876980 [ dbSNP | Ensembl ].
    VAR_018986
    Natural varianti166 – 1661I → V.
    Corresponds to variant rs16973015 [ dbSNP | Ensembl ].
    VAR_056237
    Natural varianti443 – 4431D → E.1 Publication
    Corresponds to variant rs2578652 [ dbSNP | Ensembl ].
    VAR_018987
    Natural varianti845 – 8451F → S.1 Publication
    Corresponds to variant rs7181742 [ dbSNP | Ensembl ].
    VAR_018988
    Natural varianti848 – 8481Q → R.1 Publication
    Corresponds to variant rs7180279 [ dbSNP | Ensembl ].
    VAR_018989

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF545044 mRNA. Translation: AAN74755.1.
    AF545045 mRNA. Translation: AAN74756.1.
    AF545046 mRNA. Translation: AAN74757.1.
    AK074037 mRNA. Translation: BAB84863.1. Different initiation.
    AC012651 Genomic DNA. No translation available.
    AC022468 Genomic DNA. No translation available.
    BC059406 mRNA. Translation: AAH59406.1.
    BC093833 mRNA. Translation: AAH93833.1.
    AF525397 mRNA. Translation: AAO14993.1.
    CCDSiCCDS10084.1.
    RefSeqiNP_937784.2. NM_198141.2.
    UniGeneiHs.730806.

    Genome annotation databases

    EnsembliENST00000318010; ENSP00000326227; ENSG00000214013.
    GeneIDi2595.
    KEGGihsa:2595.
    UCSCiuc001zpi.3. human.

    Polymorphism databases

    DMDMi296439340.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF545044 mRNA. Translation: AAN74755.1 .
    AF545045 mRNA. Translation: AAN74756.1 .
    AF545046 mRNA. Translation: AAN74757.1 .
    AK074037 mRNA. Translation: BAB84863.1 . Different initiation.
    AC012651 Genomic DNA. No translation available.
    AC022468 Genomic DNA. No translation available.
    BC059406 mRNA. Translation: AAH59406.1 .
    BC093833 mRNA. Translation: AAH93833.1 .
    AF525397 mRNA. Translation: AAO14993.1 .
    CCDSi CCDS10084.1.
    RefSeqi NP_937784.2. NM_198141.2.
    UniGenei Hs.730806.

    3D structure databases

    ProteinModelPortali Q8TET4.
    SMRi Q8TET4. Positions 224-868.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108866. 1 interaction.
    STRINGi 9606.ENSP00000326227.

    Chemistry

    ChEMBLi CHEMBL2520.

    PTM databases

    PhosphoSitei Q8TET4.

    Polymorphism databases

    DMDMi 296439340.

    Proteomic databases

    MaxQBi Q8TET4.
    PaxDbi Q8TET4.
    PRIDEi Q8TET4.

    Protocols and materials databases

    DNASUi 2595.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000318010 ; ENSP00000326227 ; ENSG00000214013 .
    GeneIDi 2595.
    KEGGi hsa:2595.
    UCSCi uc001zpi.3. human.

    Organism-specific databases

    CTDi 2595.
    GeneCardsi GC15P042566.
    HGNCi HGNC:4139. GANC.
    HPAi HPA016949.
    MIMi 104180. gene.
    neXtProti NX_Q8TET4.
    PharmGKBi PA28552.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1501.
    HOGENOMi HOG000115864.
    HOVERGENi HBG051683.
    InParanoidi Q8TET4.
    KOi K12317.
    OMAi LKCHITA.
    OrthoDBi EOG7VQJDS.
    PhylomeDBi Q8TET4.
    TreeFami TF300337.

    Miscellaneous databases

    GeneWikii GANC.
    GenomeRNAii 2595.
    NextBioi 10263.
    PROi Q8TET4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8TET4.
    Bgeei Q8TET4.
    Genevestigatori Q8TET4.

    Family and domain databases

    InterProi IPR011013. Gal_mutarotase_SF_dom.
    IPR000322. Glyco_hydro_31.
    IPR025887. Glyco_hydro_31_N_dom.
    IPR017853. Glycoside_hydrolase_SF.
    [Graphical view ]
    Pfami PF13802. Gal_mutarotas_2. 1 hit.
    PF01055. Glyco_hydro_31. 1 hit.
    [Graphical view ]
    SUPFAMi SSF51445. SSF51445. 1 hit.
    SSF74650. SSF74650. 2 hits.
    PROSITEi PS00129. GLYCOSYL_HYDROL_F31_1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Computer assisted cloning of human neutral alpha glucosidase C (GANC): a new paralog in the glycosyl hydrolase gene family 31."
      Hirschhorn R., Huie M.L., Kasper J.S.
      Proc. Natl. Acad. Sci. U.S.A. 99:13642-13646(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS VAL-11; ARG-44; MET-153; GLU-443; SER-845 AND ARG-848, FUNCTION.
      Tissue: Lymphoid tissue.
    2. "The nucleotide sequence of a long cDNA clone isolated from human spleen."
      Ohara O., Nagase T., Kikuno R., Okumura K.
      Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS VAL-11 AND ARG-44.
      Tissue: Spleen.
    3. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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], VARIANTS VAL-11 AND ARG-44.
      Tissue: Colon and Placenta.
    5. Ben-Asher E.
      Submitted (JUN-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 146-914.
      Tissue: Erythroid cell.

    Entry informationi

    Entry nameiGANC_HUMAN
    AccessioniPrimary (citable) accession number: Q8TET4
    Secondary accession number(s): Q52LQ4
    , Q8IWZ0, Q8IZM4, Q8IZM5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 7, 2004
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 104 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. Glycosyl hydrolases
      Classification of glycosyl hydrolase families and list of entries
    2. Human chromosome 15
      Human chromosome 15: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3