Reviewed, UniProtKB/Swiss-Prot Q5I7T1 (AG10B_HUMAN)

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	473 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence 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 Glc(2)Man(9)GlcNAc(2)-PP-Dol. When coupled to KCNH2 may reduce KCNH2 sensitivity to classic proarrhythmic drug blockade, possibly by mediating glycosylation of KCNH2.
Pathway	Protein modification; protein glycosylation.
Subunit structure	Interacts with KCNH1 and KCNH2 By similarity.
Subcellular location	Cell membrane; Multi-pass membrane proteinBy similarity.
Tissue specificity	Highly expressed in heart, placenta, liver, kidney and pancreas. Weakly expressed in lung, skeletal muscle and brain.
Involvement in disease	Defects in ALG10B may reduce susceptibility to acquired long QT syndrome (aLQTS) [MIM:152427]. It is a cardiac anomaly characterized by a paradoxical life-threatening cardiac rhythm disturbance.
Sequence similarities	Belongs to the ALG10 glucosyltransferase family.

Ontologies

Keywords
Cellular component	Cell membrane Membrane
Disease	Disease mutation
Domain	Transmembrane
Molecular function	Glycosyltransferase Transferase
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view
Molecule processing
	Chain	1 – 473	473	Putative alpha-1,2-glucosyltransferase ALG10-B
Regions
	Topological domain	1 – 6	6	Cytoplasmic Potential
	Transmembrane	7 – 27	21	Potential
	Topological domain	28 – 64	37	Extracellular Potential
	Transmembrane	65 – 85	21	Potential
	Topological domain	86 – 97	12	Cytoplasmic Potential
	Transmembrane	98 – 118	21	Potential
	Topological domain	119 – 126	8	Extracellular Potential
	Transmembrane	127 – 147	21	Potential
	Topological domain	148 – 150	3	Cytoplasmic Potential
	Transmembrane	151 – 171	21	Potential
	Topological domain	172 – 175	4	Extracellular Potential
	Transmembrane	176 – 196	21	Potential
	Topological domain	197 – 256	60	Cytoplasmic Potential
	Transmembrane	257 – 277	21	Potential
	Topological domain	278 – 283	6	Extracellular Potential
	Transmembrane	284 – 304	21	Potential
	Topological domain	305 – 317	13	Cytoplasmic Potential
	Transmembrane	318 – 338	21	Potential
	Topological domain	339 – 365	27	Extracellular Potential
	Transmembrane	366 – 386	21	Potential
	Topological domain	387 – 392	6	Cytoplasmic Potential
	Transmembrane	393 – 413	21	Potential
	Topological domain	414 – 436	23	Extracellular Potential
	Transmembrane	437 – 457	21	Potential
	Topological domain	458 – 473	16	Cytoplasmic Potential
Natural variations
	Natural variant	447	1	V → I in aLQTS; low frequency; exerts a greater protective effect against drug blackage of acardiac potassium channel.

Sequences

	Sequence		Length	Mass (Da)
	Q5I7T1-1 [UniParc]. Last modified February 15, 2005. Version 1. Checksum: 62F1311FD7C23DA8	FASTA	473	55,434
	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

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 ALQTS ILE-447, CHARACTERIZATION OF VARIANTS ALQTS ILE-447.

Web resources

GGDB

GlycoGene database

Cross-references

Sequence databases
EMBLGenBankDDBJ	AY845858 mRNA. Translation: AAW31756.1.
RefSeq	NP_001013642.1.
UniGene	Hs.259305
3D structure databases
ModBase	Search...
Genome annotation databases
Ensembl	ENSG00000175548. Homo sapiens. [Contig view]
GeneID	144245.
KEGG	hsa:144245.
Organism-specific databases
HGNC	HGNC:31088. ALG10B.
MIM	152427. gene+phenotype. 603313. gene.
Orphanet	768. Long QT syndrome, familial.
PharmGKB	PA134936082.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	Q5I7T1.
HOVERGEN	Q5I7T1.
Gene expression databases
CleanEx	HS_ALG10B.
GermOnline	ENSG00000175548. Homo sapiens.
Family and domain databases
InterPro	IPR016900. Alpha1_2_glucosyltferase_Alg10. IPR007006. DIE2_ALG10. [Graphical view]
PANTHER	PTHR12989. DIE2_ALG10. 1 hit.
Pfam	PF04922. DIE2_ALG10. 1 hit. [Graphical view]
PIRSF	PIRSF028810. Alpha1_2_glucosyltferase_Alg10. 1 hit.
ProDom	Q5I7T1. [Graphical view] [Entries sharing at least one domain]
BLOCKS	Search...
Other Resources
SOURCE	Search...
ProtoNet	Search...

Entry information

Entry name

AG10B_HUMAN

Accession

Primary (citable) accession number: Q5I7T1

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 8, 2005
Last sequence update:	February 15, 2005
Last modified:	September 2, 2008
This is version 32 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)