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Q9Y673 (ALG5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 115. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length324 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 324324Dolichyl-phosphate beta-glucosyltransferase
PRO_0000059098

Regions

Topological domain1 – 77Cytoplasmic Potential
Transmembrane8 – 2821Helical; Signal-anchor for type II membrane protein; Potential
Topological domain29 – 324296Lumenal Potential

Amino acid modifications

Glycosylation2811N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence95 – 12430Missing in isoform 2.
VSP_041019

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 1, 1999. Version 1.
Checksum: 44E1826BAB5B36CB

FASTA32436,946
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 3A5E796B95FDC6C6
Show »

FASTA29433,525

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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. 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].
[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.
PIRT51776.
RefSeqNP_001135836.1. NM_001142364.1.
NP_037470.1. NM_013338.4.
UniGeneHs.507769.

3D structure databases

ProteinModelPortalQ9Y673.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid118935. 1 interaction.
STRING9606.ENSP00000239891.

Protein family/group databases

CAZyGT2. Glycosyltransferase Family 2.

PTM databases

PhosphoSiteQ9Y673.

Polymorphism databases

DMDM27734217.

Proteomic databases

PaxDbQ9Y673.
PRIDEQ9Y673.

Protocols and materials databases

DNASU29880.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000239891; ENSP00000239891; ENSG00000120697. [Q9Y673-1]
ENST00000443765; ENSP00000390533; ENSG00000120697. [Q9Y673-2]
GeneID29880.
KEGGhsa:29880.
UCSCuc001uvy.3. human. [Q9Y673-1]
uc010teq.2. human. [Q9Y673-2]

Organism-specific databases

CTD29880.
GeneCardsGC13M037523.
HGNCHGNC:20266. ALG5.
HPAHPA007989.
MIM604565. gene.
neXtProtNX_Q9Y673.
PharmGKBPA134977026.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0463.
HOGENOMHOG000283250.
HOVERGENHBG024330.
InParanoidQ9Y673.
KOK00729.
OMAVRMGVFS.
OrthoDBEOG7XPZ6G.
PhylomeDBQ9Y673.
TreeFamTF314844.

Enzyme and pathway databases

ReactomeREACT_17015. Metabolism of proteins.
SABIO-RKQ9Y673.
UniPathwayUPA00378.

Gene expression databases

ArrayExpressQ9Y673.
BgeeQ9Y673.
CleanExHS_ALG5.
GenevestigatorQ9Y673.

Family and domain databases

InterProIPR001173. Glyco_trans_2-like.
[Graphical view]
PfamPF00535. Glycos_transf_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi29880.
NextBio52401.
PROQ9Y673.
SOURCESearch...

Entry information

Entry nameALG5_HUMAN
AccessionPrimary (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 16, 2014
This is version 115 of the entry and version 1 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 chromosome 13

Human chromosome 13: entries, gene names and cross-references to MIM