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Q5I7T1

- AG10B_HUMAN

UniProt

Q5I7T1 - AG10B_HUMAN

Protein

Putative Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase

Gene

ALG10B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 87 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    Functioni

    Putative alpha-1,2-glucosyltransferase, which adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc2Man9GlcNAc(2)-PP-Dol. When coupled to KCNH2 may reduce KCNH2 sensitivity to classic proarrhythmic drug blockade, possibly by mediating glycosylation of KCNH2.1 Publication

    Catalytic activityi

    Dolichyl beta-D-glucosyl phosphate + D-Glc-alpha-(1->3)-D-Glc-alpha-(1->3)-D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol = D-Glc-alpha-(1->2)-D-Glc-alpha-(1->3)-D-Glc-alpha-(1->3)-D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol + dolichyl phosphate.

    Pathwayi

    GO - Molecular functioni

    1. transferase activity, transferring hexosyl groups Source: InterPro

    GO - Biological processi

    1. cellular protein metabolic process Source: Reactome
    2. dolichol-linked oligosaccharide biosynthetic process Source: Reactome
    3. post-translational protein modification Source: Reactome
    4. protein N-linked glycosylation via asparagine Source: Reactome

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Enzyme and pathway databases

    ReactomeiREACT_22433. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.
    UniPathwayiUPA00378.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Putative Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase (EC:2.4.1.256)
    Alternative name(s):
    Alpha-1,2-glucosyltransferase ALG10-A
    Alpha-2-glucosyltransferase ALG10-B
    Asparagine-linked glycosylation protein 10 homolog B
    Potassium channel regulator 1
    Gene namesi
    Name:ALG10B
    Synonyms:KCR1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:31088. ALG10B.

    Subcellular locationi

    Cell membrane By similarity; Multi-pass membrane protein By similarity

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134936082.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 473473Putative Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferasePRO_0000215448Add
    BLAST

    Proteomic databases

    PaxDbiQ5I7T1.
    PRIDEiQ5I7T1.

    PTM databases

    PhosphoSiteiQ5I7T1.

    Expressioni

    Tissue specificityi

    Highly expressed in heart, placenta, liver, kidney and pancreas. Weakly expressed in lung, skeletal muscle and brain.1 Publication

    Gene expression databases

    BgeeiQ5I7T1.
    CleanExiHS_ALG10B.
    GenevestigatoriQ5I7T1.

    Organism-specific databases

    HPAiHPA043329.

    Interactioni

    Subunit structurei

    Interacts with KCNH1 and KCNH2.By similarity

    Protein-protein interaction databases

    BioGridi126840. 2 interactions.
    STRINGi9606.ENSP00000310120.

    Structurei

    3D structure databases

    ProteinModelPortaliQ5I7T1.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 66CytoplasmicSequence Analysis
    Topological domaini28 – 6437ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini86 – 9712CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini119 – 1268ExtracellularSequence Analysis
    Topological domaini148 – 1503CytoplasmicSequence Analysis
    Topological domaini172 – 1754ExtracellularSequence Analysis
    Topological domaini197 – 25660CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini278 – 2836ExtracellularSequence Analysis
    Topological domaini305 – 31713CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini339 – 36527ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini387 – 3926CytoplasmicSequence Analysis
    Topological domaini414 – 43623ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini458 – 47316CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei7 – 2721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei65 – 8521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei98 – 11821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei127 – 14721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei151 – 17121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei176 – 19621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei257 – 27721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei284 – 30421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei318 – 33821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei366 – 38621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei393 – 41321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei437 – 45721HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the ALG10 glucosyltransferase family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG236252.
    HOGENOMiHOG000240902.
    HOVERGENiHBG053222.
    InParanoidiQ5I7T1.
    KOiK03850.
    OMAiTREQRDP.
    OrthoDBiEOG76HQ16.
    PhylomeDBiQ5I7T1.
    TreeFamiTF300150.

    Family and domain databases

    InterProiIPR016900. Alg10.
    [Graphical view]
    PANTHERiPTHR12989. PTHR12989. 1 hit.
    PfamiPF04922. DIE2_ALG10. 1 hit.
    [Graphical view]
    PIRSFiPIRSF028810. Alpha1_2_glucosyltferase_Alg10. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q5I7T1-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAQLEGYCFS AALSCTFLVS CLLFSAFSRA LREPYMDEIF HLPQAQRYCE    50
    GHFSLSQWDP MITTLPGLYL VSVGVVKPAI WIFAWSEHVV CSIGMLRFVN 100
    LLFSVGNFYL LYLLFHKVQP RNKAASSIQR VLSTLTLAVF PTLYFFNFLY 150
    YTEAGSMFFT LFAYLMCLYG NHKTSAFLGF CGFMFRQTNI IWAVFCAGNV 200
    IAQKLTEAWK TELQKKEDRL PPIKGPFAEF RKILQFLLAY SMSFKNLSML 250
    FCLTWPYILL GFLFCAFVVV NGGIVIGDRS SHEACLHFPQ LFYFFSFTLF 300
    FSFPHLLSPS KIKTFLSLVW KHGILFLVVT LVSVFLVWKF TYAHKYLLAD 350
    NRHYTFYVWK RVFQRYAILK YLLVPAYIFA GWSIADSLKS KPIFWNLMFF 400
    ICLFIVIVPQ KLLEFRYFIL PYVIYRLNIT LPPTSRLVCE LSCYAIVNFI 450
    TFYIFLNKTF QWPNSQDIQR FMW 473
    Length:473
    Mass (Da):55,448
    Last modified:May 18, 2010 - v2
    Checksum:i47D0CF7B6C84B8EC
    GO

    Polymorphismi

    Genetic variations in ALG10B may reduce susceptibility to acquired long QT syndrome.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti84 – 841A → G.3 Publications
    Corresponds to variant rs6582584 [ dbSNP | Ensembl ].
    VAR_048217
    Natural varianti383 – 3831S → N.
    Corresponds to variant rs57963306 [ dbSNP | Ensembl ].
    VAR_061002
    Natural varianti446 – 4461I → V in some patients with drug-induced cardiac repolarization defects; exerts a greater protective effect, relative to wild-type, against drug blockage of KCNH2 potassium channel. 1 Publication
    Corresponds to variant rs61730283 [ dbSNP | Ensembl ].
    VAR_023753

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY845858 mRNA. Translation: AAW31756.1.
    AC117372 Genomic DNA. No translation available.
    CH471111 Genomic DNA. Translation: EAW57795.1.
    BC137413 mRNA. Translation: AAI37414.1.
    BC137414 mRNA. Translation: AAI37415.1.
    CCDSiCCDS31772.1.
    RefSeqiNP_001013642.1. NM_001013620.3.
    UniGeneiHs.259305.

    Genome annotation databases

    EnsembliENST00000308742; ENSP00000310120; ENSG00000175548.
    GeneIDi144245.
    KEGGihsa:144245.
    UCSCiuc001rln.4. human.

    Polymorphism databases

    DMDMi296434391.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY845858 mRNA. Translation: AAW31756.1 .
    AC117372 Genomic DNA. No translation available.
    CH471111 Genomic DNA. Translation: EAW57795.1 .
    BC137413 mRNA. Translation: AAI37414.1 .
    BC137414 mRNA. Translation: AAI37415.1 .
    CCDSi CCDS31772.1.
    RefSeqi NP_001013642.1. NM_001013620.3.
    UniGenei Hs.259305.

    3D structure databases

    ProteinModelPortali Q5I7T1.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 126840. 2 interactions.
    STRINGi 9606.ENSP00000310120.

    PTM databases

    PhosphoSitei Q5I7T1.

    Polymorphism databases

    DMDMi 296434391.

    Proteomic databases

    PaxDbi Q5I7T1.
    PRIDEi Q5I7T1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000308742 ; ENSP00000310120 ; ENSG00000175548 .
    GeneIDi 144245.
    KEGGi hsa:144245.
    UCSCi uc001rln.4. human.

    Organism-specific databases

    CTDi 144245.
    GeneCardsi GC12P038710.
    HGNCi HGNC:31088. ALG10B.
    HPAi HPA043329.
    MIMi 603313. gene.
    neXtProti NX_Q5I7T1.
    PharmGKBi PA134936082.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG236252.
    HOGENOMi HOG000240902.
    HOVERGENi HBG053222.
    InParanoidi Q5I7T1.
    KOi K03850.
    OMAi TREQRDP.
    OrthoDBi EOG76HQ16.
    PhylomeDBi Q5I7T1.
    TreeFami TF300150.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .
    Reactomei REACT_22433. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.

    Miscellaneous databases

    GenomeRNAii 144245.
    NextBioi 84873.
    PROi Q5I7T1.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q5I7T1.
    CleanExi HS_ALG10B.
    Genevestigatori Q5I7T1.

    Family and domain databases

    InterProi IPR016900. Alg10.
    [Graphical view ]
    PANTHERi PTHR12989. PTHR12989. 1 hit.
    Pfami PF04922. DIE2_ALG10. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF028810. Alpha1_2_glucosyltferase_Alg10. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "The IKr drug response is modulated by KCR1 in transfected cardiac and noncardiac cell lines."
      Kupershmidt S., Yang I.C.-H., Hayashi K., Wei J., Chanthaphaychith S., Petersen C.I., Johns D.C., George A.L. Jr., Roden D.M., Balser J.R.
      FASEB J. 17:2263-2265(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY, VARIANT GLY-84.
    2. George A.L. Jr.
      Submitted (DEC-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: SEQUENCE REVISION.
    3. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLY-84.
    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 GLY-84.
    6. "In vivo identification of genes that modify ether-a-go-go-related gene activity in Caenorhabditis elegans may also affect human cardiac arrhythmia."
      Petersen C.I., McFarland T.R., Stepanovic S.Z., Yang P., Reiner D.J., Hayashi K., George A.L. Jr., Roden D.M., Thomas J.H., Balser J.R.
      Proc. Natl. Acad. Sci. U.S.A. 101:11773-11778(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT VAL-446, CHARACTERIZATION OF VARIANT VAL-446, POSSIBLE PROTECTIVE ROLE IN SUSCEPTIBILITY TO ACQUIRED LONG QT SYNDROME.

    Entry informationi

    Entry nameiAG10B_HUMAN
    AccessioniPrimary (citable) accession number: Q5I7T1
    Secondary accession number(s): B2RPF4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 8, 2005
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 87 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

    Caution

    PubMed:15280551 reports a Val-447 variant, however there is evidence that the right variant is Val-446.Curated

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: 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