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Q5I7T1 (AG10B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 85. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:ALG10B
Synonyms:KCR1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length473 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.1 Ref.6

Catalytic activity

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.

Pathway

Protein modification; protein glycosylation.

Subunit structure

Interacts with KCNH1 and KCNH2 By similarity.

Subcellular location

Cell membrane; Multi-pass membrane protein By similarity.

Tissue specificity

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

Polymorphism

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

Sequence similarities

Belongs to the ALG10 glucosyltransferase family.

Caution

Ref.6 reports a Val-447 variant, however there is evidence that the right variant is Val-446.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 473473Putative Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase
PRO_0000215448

Regions

Topological domain1 – 66Cytoplasmic Potential
Transmembrane7 – 2721Helical; Potential
Topological domain28 – 6437Extracellular Potential
Transmembrane65 – 8521Helical; Potential
Topological domain86 – 9712Cytoplasmic Potential
Transmembrane98 – 11821Helical; Potential
Topological domain119 – 1268Extracellular Potential
Transmembrane127 – 14721Helical; Potential
Topological domain148 – 1503Cytoplasmic Potential
Transmembrane151 – 17121Helical; Potential
Topological domain172 – 1754Extracellular Potential
Transmembrane176 – 19621Helical; Potential
Topological domain197 – 25660Cytoplasmic Potential
Transmembrane257 – 27721Helical; Potential
Topological domain278 – 2836Extracellular Potential
Transmembrane284 – 30421Helical; Potential
Topological domain305 – 31713Cytoplasmic Potential
Transmembrane318 – 33821Helical; Potential
Topological domain339 – 36527Extracellular Potential
Transmembrane366 – 38621Helical; Potential
Topological domain387 – 3926Cytoplasmic Potential
Transmembrane393 – 41321Helical; Potential
Topological domain414 – 43623Extracellular Potential
Transmembrane437 – 45721Helical; Potential
Topological domain458 – 47316Cytoplasmic Potential

Natural variations

Natural variant841A → G. Ref.1 Ref.4 Ref.5
Corresponds to variant rs6582584 [ dbSNP | Ensembl ].
VAR_048217
Natural variant3831S → N.
Corresponds to variant rs57963306 [ dbSNP | Ensembl ].
VAR_061002
Natural variant4461I → 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. Ref.6
Corresponds to variant rs61730283 [ dbSNP | Ensembl ].
VAR_023753

Sequences

Sequence LengthMass (Da)Tools
Q5I7T1 [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: 47D0CF7B6C84B8EC

FASTA47355,448
        10         20         30         40         50         60 
MAQLEGYCFS AALSCTFLVS CLLFSAFSRA LREPYMDEIF HLPQAQRYCE GHFSLSQWDP 

        70         80         90        100        110        120 
MITTLPGLYL VSVGVVKPAI WIFAWSEHVV CSIGMLRFVN LLFSVGNFYL LYLLFHKVQP 

       130        140        150        160        170        180 
RNKAASSIQR VLSTLTLAVF PTLYFFNFLY YTEAGSMFFT LFAYLMCLYG NHKTSAFLGF 

       190        200        210        220        230        240 
CGFMFRQTNI IWAVFCAGNV IAQKLTEAWK TELQKKEDRL PPIKGPFAEF RKILQFLLAY 

       250        260        270        280        290        300 
SMSFKNLSML FCLTWPYILL GFLFCAFVVV NGGIVIGDRS SHEACLHFPQ LFYFFSFTLF 

       310        320        330        340        350        360 
FSFPHLLSPS KIKTFLSLVW KHGILFLVVT LVSVFLVWKF TYAHKYLLAD NRHYTFYVWK 

       370        380        390        400        410        420 
RVFQRYAILK YLLVPAYIFA GWSIADSLKS KPIFWNLMFF ICLFIVIVPQ KLLEFRYFIL 

       430        440        450        460        470 
PYVIYRLNIT LPPTSRLVCE LSCYAIVNFI TFYIFLNKTF QWPNSQDIQR FMW 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS31772.1.
RefSeqNP_001013642.1. NM_001013620.3.
UniGeneHs.259305.

3D structure databases

ProteinModelPortalQ5I7T1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid126840. 2 interactions.
STRING9606.ENSP00000310120.

PTM databases

PhosphoSiteQ5I7T1.

Polymorphism databases

DMDM296434391.

Proteomic databases

PaxDbQ5I7T1.
PRIDEQ5I7T1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000308742; ENSP00000310120; ENSG00000175548.
GeneID144245.
KEGGhsa:144245.
UCSCuc001rln.4. human.

Organism-specific databases

CTD144245.
GeneCardsGC12P038710.
HGNCHGNC:31088. ALG10B.
HPAHPA043329.
MIM603313. gene.
neXtProtNX_Q5I7T1.
PharmGKBPA134936082.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG236252.
HOGENOMHOG000240902.
HOVERGENHBG053222.
InParanoidQ5I7T1.
KOK03850.
OMATREQRDP.
OrthoDBEOG76HQ16.
PhylomeDBQ5I7T1.
TreeFamTF300150.

Enzyme and pathway databases

ReactomeREACT_17015. Metabolism of proteins.
UniPathwayUPA00378.

Gene expression databases

BgeeQ5I7T1.
CleanExHS_ALG10B.
GenevestigatorQ5I7T1.

Family and domain databases

InterProIPR016900. Alg10.
[Graphical view]
PANTHERPTHR12989. PTHR12989. 1 hit.
PfamPF04922. DIE2_ALG10. 1 hit.
[Graphical view]
PIRSFPIRSF028810. Alpha1_2_glucosyltferase_Alg10. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi144245.
NextBio84873.
PROQ5I7T1.
SOURCESearch...

Entry information

Entry nameAG10B_HUMAN
AccessionPrimary (citable) accession number: Q5I7T1
Secondary accession number(s): B2RPF4
Entry history
Integrated into UniProtKB/Swiss-Prot: November 8, 2005
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 85 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM