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Q5I7T1

- AG10B_HUMAN

UniProt

Q5I7T1 - AG10B_HUMAN

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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

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
Complete GO annotation...

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-KW
Complete GO annotation...

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.
ExpressionAtlasiQ5I7T1. baseline.
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.
GeneTreeiENSGT00390000012906.
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

        10         20         30         40         50
MAQLEGYCFS AALSCTFLVS CLLFSAFSRA LREPYMDEIF HLPQAQRYCE
60 70 80 90 100
GHFSLSQWDP MITTLPGLYL VSVGVVKPAI WIFAWSEHVV CSIGMLRFVN
110 120 130 140 150
LLFSVGNFYL LYLLFHKVQP RNKAASSIQR VLSTLTLAVF PTLYFFNFLY
160 170 180 190 200
YTEAGSMFFT LFAYLMCLYG NHKTSAFLGF CGFMFRQTNI IWAVFCAGNV
210 220 230 240 250
IAQKLTEAWK TELQKKEDRL PPIKGPFAEF RKILQFLLAY SMSFKNLSML
260 270 280 290 300
FCLTWPYILL GFLFCAFVVV NGGIVIGDRS SHEACLHFPQ LFYFFSFTLF
310 320 330 340 350
FSFPHLLSPS KIKTFLSLVW KHGILFLVVT LVSVFLVWKF TYAHKYLLAD
360 370 380 390 400
NRHYTFYVWK RVFQRYAILK YLLVPAYIFA GWSIADSLKS KPIFWNLMFF
410 420 430 440 450
ICLFIVIVPQ KLLEFRYFIL PYVIYRLNIT LPPTSRLVCE LSCYAIVNFI
460 470
TFYIFLNKTF QWPNSQDIQR FMW
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.
GeneTreei ENSGT00390000012906.
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.
ExpressionAtlasi Q5I7T1. baseline.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 88 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