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Reviewed, UniProtKB/Swiss-Prot Q5I7T1 (AG10B_HUMAN)

Last modified November 24, 2009. Version 46. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    Putative alpha-1,2-glucosyltransferase ALG10-B
      Short name=Alpha-2-glucosyltransferase ALG10-B
    EC=2.4.1.-
Alternative name(s):
    Asparagine-linked glycosylation protein 10 homolog B
    Potassium channel regulator 1
Gene names
Name: ALG10B
Synonyms: KCR1
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length473 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

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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.3

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

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Ontologies

Keywords
   Cellular componentCell membrane
Membrane
   Coding sequence diversityPolymorphism
   DomainTransmembrane
   Molecular functionGlycosyltransferase
Transferase
   Technical termComplete proteome
Gene Ontology (GO)
   Cellular componentintegral to membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

plasma membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular functiontransferase activity, transferring hexosyl groups

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 473473Putative alpha-1,2-glucosyltransferase ALG10-B
PRO_0000215448

Regions

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

Natural variations

Natural variant841G → A: dbSNP rs6582584.
VAR_048217
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.3
VAR_023753

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Sequences

Sequence LengthMass (Da)Tools
Q5I7T1-1 [UniParc].

Last modified February 15, 2005. Version 1.
Checksum: 62F1311FD7C23DA8

FASTA47355,434
        10         20         30         40         50         60 
MAQLEGYCFS AALSCTFLVS CLLFSAFSRA LREPYMDEIF HLPQAQRYCE GHFSLSQWDP 

        70         80         90        100        110        120 
MITTLPGLYL VSVGVVKPAI WIFGWSEHVV 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

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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: 14525949] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY.
[2]George A.L. Jr.
Submitted (DEC-2004) to the EMBL/GenBank/DDBJ databases
Cited for: SEQUENCE REVISION.
[3]"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: 15280551] [Abstract]
Cited for: VARIANT VAL-446, CHARACTERIZATION OF VARIANT VAL-446, POSSIBLE PROTECTIVE ROLE IN SUSCEPTIBILITY TO ACQUIRED LONG QT SYNDROME.

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Web resources

GGDB

GlycoGene database

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Cross-references

Sequence databases

AY845858 mRNA. Translation: AAW31756.1.
IPIIPI00105827.
RefSeqNP_001013642.1.
UniGeneHs.259305

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

STRINGQ5I7T1.

Proteomic databases

PRIDEQ5I7T1.

Genome annotation databases

EnsemblENST00000308742; ENSP00000310120; ENSG00000175548; Homo sapiens. [Genome view]
GeneID144245.
KEGGhsa:144245.
UCSCuc001rln.2. human.

Organism-specific databases

CTD144245.
GeneCardsGC12P036998.
HGNCHGNC:31088. ALG10B.
MIM603313. gene.
PharmGKBPA134936082.
GenAtlasSearch...

Phylogenomic databases

HOGENOMQ5I7T1.
HOVERGENQ5I7T1.

Gene expression databases

ArrayExpressQ5I7T1.
BgeeQ5I7T1.
CleanExHS_ALG10B.
GenevestigatorQ5I7T1.
GermOnlineENSG00000175548. Homo sapiens.

Family and domain databases

InterProIPR016900. Alpha1_2_glucosyltferase_Alg10.
IPR007006. Glycosyltransferase_ALG10.
[Graphical view]
PANTHERPTHR12989. DIE2_ALG10. 1 hit.
PfamPF04922. DIE2_ALG10. 1 hit.
[Graphical view]
PIRSFPIRSF028810. Alpha1_2_glucosyltferase_Alg10. 1 hit.
ProtoNetSearch...

Other Resources

NextBio84873.
SOURCESearch...

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Entry information

Entry nameAG10B_HUMAN
AccessionPrimary (citable) accession number: Q5I7T1
Entry history
Integrated into UniProtKB/Swiss-Prot: November 8, 2005
Last sequence update: February 15, 2005
Last modified: November 24, 2009
This is version 46 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
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.

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Relevant documents

Human chromosome 12

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

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

PATHWAY comments

Index of metabolic and biosynthesis pathways

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents