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Q92685

- ALG3_HUMAN

UniProt

Q92685 - ALG3_HUMAN

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Protein

Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase

Gene
ALG3, NOT, NOT56L
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Adds the first Dol-P-Man derived mannose in an alpha-1,3 linkage to Man5GlcNAc2-PP-Dol.1 Publication

Catalytic activityi

Dolichyl beta-D-mannosyl phosphate + D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->6))-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol = D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->3)-D-Man-alpha-(1->6))-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol + dolichyl phosphate.

Pathwayi

GO - Molecular functioni

  1. alpha-1,3-mannosyltransferase activity Source: UniProtKB
  2. dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity Source: UniProtKB-EC

GO - Biological processi

  1. cellular protein metabolic process Source: Reactome
  2. dolichol-linked oligosaccharide biosynthetic process Source: Reactome
  3. mannosylation Source: GOC
  4. post-translational protein modification Source: Reactome
  5. protein glycosylation Source: UniProtKB
  6. protein N-linked glycosylation via asparagine Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Enzyme and pathway databases

ReactomeiREACT_22433. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT58. Glycosyltransferase Family 58.

Names & Taxonomyi

Protein namesi
Recommended name:
Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase (EC:2.4.1.258)
Alternative name(s):
Asparagine-linked glycosylation protein 3 homolog
Dol-P-Man-dependent alpha(1-3)-mannosyltransferase
Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase
Dolichyl-phosphate-mannose--glycolipid alpha-mannosyltransferase
Not56-like protein
Gene namesi
Name:ALG3
Synonyms:NOT, NOT56L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:23056. ALG3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei41 – 6121Helical; Reviewed predictionAdd
BLAST
Transmembranei95 – 11521Helical; Reviewed predictionAdd
BLAST
Transmembranei123 – 14321Helical; Reviewed predictionAdd
BLAST
Transmembranei149 – 16921Helical; Reviewed predictionAdd
BLAST
Transmembranei172 – 19221Helical; Reviewed predictionAdd
BLAST
Transmembranei203 – 22321Helical; Reviewed predictionAdd
BLAST
Transmembranei231 – 25121Helical; Reviewed predictionAdd
BLAST
Transmembranei289 – 30921Helical; Reviewed predictionAdd
BLAST
Transmembranei332 – 35221Helical; Reviewed predictionAdd
BLAST
Transmembranei356 – 37621Helical; Reviewed predictionAdd
BLAST
Transmembranei407 – 42721Helical; Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: UniProtKB
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Congenital disorder of glycosylation 1D (CDG1D) [MIM:601110]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti118 – 1181G → D in CDG1D. 1 Publication
Corresponds to variant rs28940588 [ dbSNP | Ensembl ].
VAR_010306
Natural varianti171 – 1711R → Q in CDG1D. 1 Publication
VAR_037806

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation

Organism-specific databases

MIMi601110. phenotype.
Orphaneti79321. ALG3-CDG.
PharmGKBiPA134897460.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 438438Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferasePRO_0000080566Add
BLAST

Proteomic databases

MaxQBiQ92685.
PaxDbiQ92685.
PRIDEiQ92685.

PTM databases

PhosphoSiteiQ92685.

Expressioni

Gene expression databases

ArrayExpressiQ92685.
BgeeiQ92685.
CleanExiHS_ALG3.
GenevestigatoriQ92685.

Organism-specific databases

HPAiHPA045103.

Interactioni

Protein-protein interaction databases

BioGridi115490. 1 interaction.
IntActiQ92685. 3 interactions.
STRINGi9606.ENSP00000380793.

Structurei

3D structure databases

ProteinModelPortaliQ92685.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG241920.
HOGENOMiHOG000237555.
HOVERGENiHBG002070.
InParanoidiQ92685.
KOiK03845.
OMAiAQRWGWG.
PhylomeDBiQ92685.
TreeFamiTF105870.

Family and domain databases

InterProiIPR007873. Glycosyltransferase_ALG3.
[Graphical view]
PANTHERiPTHR12646. PTHR12646. 1 hit.
PfamiPF05208. ALG3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q92685-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MAAGLRKRGR SGSAAQAEGL CKQWLQRAWQ ERRLLLREPR YTLLVAACLC    50
LAEVGITFWV IHRVAYTEID WKAYMAEVEG VINGTYDYTQ LQGDTGPLVY 100
PAGFVYIFMG LYYATSRGTD IRMAQNIFAV LYLATLLLVF LIYHQTCKVP 150
PFVFFFMCCA SYRVHSIFVL RLFNDPVAMV LLFLSINLLL AQRWGWGCCF 200
FSLAVSVKMN VLLFAPGLLF LLLTQFGFRG ALPKLGICAG LQVVLGLPFL 250
LENPSGYLSR SFDLGRQFLF HWTVNWRFLP EALFLHRAFH LALLTAHLTL 300
LLLFALCRWH RTGESILSLL RDPSKRKVPP QPLTPNQIVS TLFTSNFIGI 350
CFSRSLHYQF YVWYFHTLPY LLWAMPARWL THLLRLLVLG LIELSWNTYP 400
STSCSSAALH ICHAVILLQL WLGPQPFPKS TQHSKKAH 438
Length:438
Mass (Da):50,126
Last modified:February 1, 1997 - v1
Checksum:i687FC8E4A588FD9C
GO
Isoform 2 (identifier: Q92685-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-66: MAAGLRKRGR...TFWVIHRVAY → MFPAQAKENAGFSGCGGD

Note: No experimental confirmation available.

Show »
Length:390
Mass (Da):44,370
Checksum:iCCE950E0FFA23449
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti107 – 1071I → V.
Corresponds to variant rs2233463 [ dbSNP | Ensembl ].
VAR_037805
Natural varianti118 – 1181G → D in CDG1D. 1 Publication
Corresponds to variant rs28940588 [ dbSNP | Ensembl ].
VAR_010306
Natural varianti171 – 1711R → Q in CDG1D. 1 Publication
VAR_037806

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 6666MAAGL…HRVAY → MFPAQAKENAGFSGCGGD in isoform 2. VSP_042738Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Y09022 mRNA. Translation: CAA70220.1.
AK289361 mRNA. Translation: BAF82050.1.
AC061705 Genomic DNA. No translation available.
BC002839 mRNA. Translation: AAH02839.1.
BC004313 mRNA. Translation: AAH04313.1.
CCDSiCCDS46967.1. [Q92685-2]
CCDS46968.1. [Q92685-1]
RefSeqiNP_001006942.1. NM_001006941.2. [Q92685-2]
NP_005778.1. NM_005787.5. [Q92685-1]
UniGeneiHs.478481.

Genome annotation databases

EnsembliENST00000397676; ENSP00000380793; ENSG00000214160. [Q92685-1]
ENST00000445626; ENSP00000402744; ENSG00000214160. [Q92685-2]
GeneIDi10195.
KEGGihsa:10195.
UCSCiuc003fne.2. human. [Q92685-1]
uc011brc.1. human. [Q92685-2]

Polymorphism databases

DMDMi3024226.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

GGDB

GlycoGene database

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Y09022 mRNA. Translation: CAA70220.1 .
AK289361 mRNA. Translation: BAF82050.1 .
AC061705 Genomic DNA. No translation available.
BC002839 mRNA. Translation: AAH02839.1 .
BC004313 mRNA. Translation: AAH04313.1 .
CCDSi CCDS46967.1. [Q92685-2 ]
CCDS46968.1. [Q92685-1 ]
RefSeqi NP_001006942.1. NM_001006941.2. [Q92685-2 ]
NP_005778.1. NM_005787.5. [Q92685-1 ]
UniGenei Hs.478481.

3D structure databases

ProteinModelPortali Q92685.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115490. 1 interaction.
IntActi Q92685. 3 interactions.
STRINGi 9606.ENSP00000380793.

Protein family/group databases

CAZyi GT58. Glycosyltransferase Family 58.

PTM databases

PhosphoSitei Q92685.

Polymorphism databases

DMDMi 3024226.

Proteomic databases

MaxQBi Q92685.
PaxDbi Q92685.
PRIDEi Q92685.

Protocols and materials databases

DNASUi 10195.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000397676 ; ENSP00000380793 ; ENSG00000214160 . [Q92685-1 ]
ENST00000445626 ; ENSP00000402744 ; ENSG00000214160 . [Q92685-2 ]
GeneIDi 10195.
KEGGi hsa:10195.
UCSCi uc003fne.2. human. [Q92685-1 ]
uc011brc.1. human. [Q92685-2 ]

Organism-specific databases

CTDi 10195.
GeneCardsi GC03M183960.
GeneReviewsi ALG3.
HGNCi HGNC:23056. ALG3.
HPAi HPA045103.
MIMi 601110. phenotype.
608750. gene.
neXtProti NX_Q92685.
Orphaneti 79321. ALG3-CDG.
PharmGKBi PA134897460.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG241920.
HOGENOMi HOG000237555.
HOVERGENi HBG002070.
InParanoidi Q92685.
KOi K03845.
OMAi AQRWGWG.
PhylomeDBi Q92685.
TreeFami TF105870.

Enzyme and pathway databases

UniPathwayi UPA00378 .
Reactomei REACT_22433. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.

Miscellaneous databases

ChiTaRSi ALG3. human.
GeneWikii ALG3.
GenomeRNAii 10195.
NextBioi 38584.
PROi Q92685.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q92685.
Bgeei Q92685.
CleanExi HS_ALG3.
Genevestigatori Q92685.

Family and domain databases

InterProi IPR007873. Glycosyltransferase_ALG3.
[Graphical view ]
PANTHERi PTHR12646. PTHR12646. 1 hit.
Pfami PF05208. ALG3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Sequence of the human homologue of the Drosophila melanogaster Not56 protein and its expression in various tissues."
    Kurzik-Dumke U., Kaymer M.
    Submitted (OCT-1996) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Brain.
  2. "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).
  3. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., 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., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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: Brain and Placenta.
  5. "Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase."
    Koerner C., Knauer R., Stephani U., Marquardt T., Lehle L., von Figura K.
    EMBO J. 18:6816-6822(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION, VARIANT CDG1D ASP-118, FUNCTION.
  6. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "Congenital disorder of glycosylation Id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia."
    Sun L., Eklund E.A., Chung W.K., Wang C., Cohen J., Freeze H.H.
    J. Clin. Endocrinol. Metab. 90:4371-4375(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CDG1D GLN-171.

Entry informationi

Entry nameiALG3_HUMAN
AccessioniPrimary (citable) accession number: Q92685
Secondary accession number(s): A8JZZ6, Q9BT71
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: February 1, 1997
Last modified: September 3, 2014
This is version 127 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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