Q9Y673 (ALG5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Dolichyl-phosphate beta-glucosyltransferase
Short name=DolP-glucosyltransferase
EC=2.4.1.117

Alternative name(s):
Asparagine-linked glycosylation protein 5 homolog

Gene names

Name:	ALG5
ORF Names:	HSPC149

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	324 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Catalytic activity	UDP-glucose + dolichyl phosphate = UDP + dolichyl beta-D-glucosyl phosphate.
Pathway	Protein modification; protein glycosylation.
Subcellular location	Endoplasmic reticulum membrane; Single-pass type II membrane protein By similarity.
Tissue specificity	Expressed in pancreas, placenta, liver, heart, brain, kidney, skeletal muscle, and lung.
Sequence similarities	Belongs to the glycosyltransferase 2 family.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Alternative splicing
Domain	Signal-anchor Transmembrane Transmembrane helix
Molecular function	Glycosyltransferase Transferase
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	determination of left/right symmetry Inferred from electronic annotation. Source: Compara dolichol-linked oligosaccharide biosynthetic process Traceable author statement. Source: Reactome post-translational protein modification Traceable author statement. Source: Reactome protein N-linked glycosylation via asparagine Traceable author statement. Source: Reactome
Cellular_component	endoplasmic reticulum membrane Traceable author statement. Source: Reactome integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	dolichyl-phosphate beta-glucosyltransferase activity Inferred from electronic annotation. Source: EC oligosaccharyl transferase activity Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9Y673-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9Y673-2)

The sequence of this isoform differs from the canonical sequence as follows:
     95-124: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 324	324	Dolichyl-phosphate beta-glucosyltransferase		PRO_0000059098
Regions
	Topological domain	1 – 7	7	Cytoplasmic Potential
	Transmembrane	8 – 28	21	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	29 – 324	296	Lumenal Potential
Amino acid modifications
	Glycosylation	281	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	95 – 124	30	Missing in isoform 2.		VSP_041019

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 1, 1999. Version 1. Checksum: 44E1826BAB5B36CB	FASTA	324	36,946
	10 20 30 40 50 60 MAPLLLQLAV LGAALAAAAL VLISIVAFTT ATKMPALHRH EEEKFFLNAK GQKETLPSIW 70 80 90 100 110 120 DSPTKQLSVV VPSYNEEKRL PVMMDEALSY LEKRQKRDPA FTYEVIVVDD GSKDQTSKVA 130 140 150 160 170 180 FKYCQKYGSD KVRVITLVKN RGKGGAIRMG IFSSRGEKIL MADADGATKF PDVEKLEKGL 190 200 210 220 230 240 NDLQPWPNQM AIACGSRAHL EKESIAQRSY FRTLLMYGFH FLVWFLCVKG IRDTQCGFKL 250 260 270 280 290 300 FTREAASRTF SSLHVERWAF DVELLYIAQF FKIPIAEIAV NWTEIEGSKL VPFWSWLQMG 310 320 KDLLFIRLRY LTGAWRLEQT RKMN
	Isoform 2 [UniParc]. Checksum: 3A5E796B95FDC6C6	FASTA	294	33,525
	10 20 30 40 50 60 MAPLLLQLAV LGAALAAAAL VLISIVAFTT ATKMPALHRH EEEKFFLNAK GQKETLPSIW 70 80 90 100 110 120 DSPTKQLSVV VPSYNEEKRL PVMMDEALSY LEKRQKYGSD KVRVITLVKN RGKGGAIRMG 130 140 150 160 170 180 IFSSRGEKIL MADADGATKF PDVEKLEKGL NDLQPWPNQM AIACGSRAHL EKESIAQRSY 190 200 210 220 230 240 FRTLLMYGFH FLVWFLCVKG IRDTQCGFKL FTREAASRTF SSLHVERWAF DVELLYIAQF 250 260 270 280 290 FKIPIAEIAV NWTEIEGSKL VPFWSWLQMG KDLLFIRLRY LTGAWRLEQT RKMN

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic." Imbach T., Burda P., Kuhnert P., Wevers R.A., Aebi M., Berger E.G., Hennet T. Proc. Natl. Acad. Sci. U.S.A. 96:6982-6987(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells." Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X. , Gu J., Chen S.-J., Chen Z. Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Umbilical cord blood.
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[4]	"The DNA sequence and analysis of human chromosome 13." Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T. Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	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. , 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].
[6]	"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] (ISOFORM 1). Tissue: Prostate.
[7]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Web resources

GGDB

GlycoGene database

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF102850 mRNA. Translation: AAD41465.1. AF161498 mRNA. Translation: AAF29113.1. AK299085 mRNA. Translation: BAG61149.1. AL138706 Genomic DNA. Translation: CAI14011.1. CH471075 Genomic DNA. Translation: EAX08578.1. BC012531 mRNA. Translation: AAH12531.1.
IPI	IPI00002506. IPI00909046.
PIR	T51776.
RefSeq	NP_001135836.1. NM_001142364.1. NP_037470.1. NM_013338.4.
UniGene	Hs.507769.
3D structure databases
ProteinModelPortal	Q9Y673.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000239891.
Protein family/group databases
CAZy	GT2. Glycosyltransferase Family 2.
PTM databases
PhosphoSite	Q9Y673.
Polymorphism databases
DMDM	27734217.
Proteomic databases
PaxDb	Q9Y673.
PRIDE	Q9Y673.
Protocols and materials databases
DNASU	29880.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000239891; ENSP00000239891; ENSG00000120697. ENST00000443765; ENSP00000390533; ENSG00000120697.
GeneID	29880.
KEGG	hsa:29880.
UCSC	uc001uvy.3. human. uc010teq.2. human.
Organism-specific databases
CTD	29880.
GeneCards	GC13M037523.
HGNC	HGNC:20266. ALG5.
HPA	HPA007989.
MIM	604565. gene.
neXtProt	NX_Q9Y673.
PharmGKB	PA134977026.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0463.
HOGENOM	HOG000283250.
HOVERGEN	HBG024330.
InParanoid	Q9Y673.
KO	K00729.
OMA	GAVRMGV.
OrthoDB	EOG4KKZ3G.
Enzyme and pathway databases
Reactome	REACT_17015. Metabolism of proteins.
SABIO-RK	Q9Y673.
UniPathway	UPA00378.
Gene expression databases
ArrayExpress	Q9Y673.
Bgee	Q9Y673.
CleanEx	HS_ALG5.
Genevestigator	Q9Y673.
GermOnline	ENSG00000120697. Homo sapiens.
Family and domain databases
InterPro	IPR001173. Glyco_trans_2. [Graphical view]
Pfam	PF00535. Glycos_transf_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	29880.
NextBio	52401.
SOURCE	Search...

Entry information

Entry name

ALG5_HUMAN

Accession

Primary (citable) accession number: Q9Y673
Secondary accession number(s): B4DR37, Q5TBA6

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 10, 2003
Last sequence update:	November 1, 1999
Last modified:	April 3, 2013
This is version 107 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.