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Protein

Alpha-1,2-mannosyltransferase ALG9

Gene

ALG9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides.2 Publications

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

Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Enzyme and pathway databases

BRENDAi2.4.1.259. 2681.
2.4.1.261. 2681.
ReactomeiR-HSA-446193. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT22. Glycosyltransferase Family 22.

Names & Taxonomyi

Protein namesi
Recommended name:
Alpha-1,2-mannosyltransferase ALG9 (EC:2.4.1.259, EC:2.4.1.261)
Alternative name(s):
Asparagine-linked glycosylation protein 9 homolog
Disrupted in bipolar disorder protein 1
Dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase
Dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase
Gene namesi
Name:ALG9
Synonyms:DIBD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:15672. ALG9.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 135LumenalSequence analysisAdd BLAST135
Transmembranei136 – 156HelicalSequence analysisAdd BLAST21
Topological domaini157 – 171CytoplasmicSequence analysisAdd BLAST15
Transmembranei172 – 192HelicalSequence analysisAdd BLAST21
Topological domaini193 – 213LumenalSequence analysisAdd BLAST21
Transmembranei214 – 234HelicalSequence analysisAdd BLAST21
Topological domaini235 – 249CytoplasmicSequence analysisAdd BLAST15
Transmembranei250 – 270HelicalSequence analysisAdd BLAST21
Topological domaini271 – 304LumenalSequence analysisAdd BLAST34
Transmembranei305 – 325HelicalSequence analysisAdd BLAST21
Topological domaini326 – 342CytoplasmicSequence analysisAdd BLAST17
Transmembranei343 – 363HelicalSequence analysisAdd BLAST21
Topological domaini364 – 370LumenalSequence analysis7
Transmembranei371 – 391HelicalSequence analysisAdd BLAST21
Topological domaini392 – 405CytoplasmicSequence analysisAdd BLAST14
Transmembranei406 – 426HelicalSequence analysisAdd BLAST21
Topological domaini427 – 611LumenalSequence analysisAdd BLAST185

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving ALG9 is found in a family with bipolar affective disorder. Translocation t(9;11)(p24;q23). However, common variations in ALG9 do not play a major role in predisposition to bipolar affective disorder.

Congenital disorder of glycosylation 1L (CDG1L)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital disorder of glycosylation, 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.
See also OMIM:608776
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023410287Y → C in CDG1L; impairs activity. 1 PublicationCorresponds to variant rs121908023dbSNPEnsembl.1
Natural variantiVAR_023413523E → K in CDG1L; impairs activity. 1 PublicationCorresponds to variant rs121908022dbSNPEnsembl.1

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei340Breakpoint for translocation1 Publication1

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation

Organism-specific databases

DisGeNETi79796.
MalaCardsiALG9.
MIMi608776. phenotype.
OpenTargetsiENSG00000086848.
Orphaneti79328. ALG9-CDG.
PharmGKBiPA134887582.

Polymorphism and mutation databases

BioMutaiALG9.
DMDMi73921666.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002157871 – 611Alpha-1,2-mannosyltransferase ALG9Add BLAST611

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi77N-linked (GlcNAc...)Sequence analysis1
Glycosylationi593N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ9H6U8.
MaxQBiQ9H6U8.
PaxDbiQ9H6U8.
PeptideAtlasiQ9H6U8.
PRIDEiQ9H6U8.

PTM databases

iPTMnetiQ9H6U8.
PhosphoSitePlusiQ9H6U8.

Expressioni

Tissue specificityi

Ubiquitously expressed; with highest levels in heart, liver and pancreas.1 Publication

Gene expression databases

BgeeiENSG00000086848.
CleanExiHS_ALG9.
ExpressionAtlasiQ9H6U8. baseline and differential.
GenevisibleiQ9H6U8. HS.

Organism-specific databases

HPAiHPA038575.

Interactioni

Protein-protein interaction databases

BioGridi122893. 33 interactors.
IntActiQ9H6U8. 6 interactors.
MINTiMINT-3068633.
STRINGi9606.ENSP00000435517.

Structurei

3D structure databases

ProteinModelPortaliQ9H6U8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyltransferase 22 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2515. Eukaryota.
ENOG410XP6D. LUCA.
GeneTreeiENSGT00390000004731.
HOVERGENiHBG062906.
InParanoidiQ9H6U8.
KOiK03846.
OrthoDBiEOG091G01ZZ.
PhylomeDBiQ9H6U8.

Family and domain databases

InterProiIPR005599. GPI_mannosylTrfase.
[Graphical view]
PANTHERiPTHR22760. PTHR22760. 1 hit.
PfamiPF03901. Glyco_transf_22. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H6U8-1) [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

        10         20         30         40         50
MASRGARQRL KGSGASSGDT APAADKLREL LGSREAGGAE HRTELSGNKA
60 70 80 90 100
GQVWAPEGST AFKCLLSARL CAALLSNISD CDETFNYWEP THYLIYGEGF
110 120 130 140 150
QTWEYSPAYA IRSYAYLLLH AWPAAFHARI LQTNKILVFY FLRCLLAFVS
160 170 180 190 200
CICELYFYKA VCKKFGLHVS RMMLAFLVLS TGMFCSSSAF LPSSFCMYTT
210 220 230 240 250
LIAMTGWYMD KTSIAVLGVA AGAILGWPFS AALGLPIAFD LLVMKHRWKS
260 270 280 290 300
FFHWSLMALI LFLVPVVVID SYYYGKLVIA PLNIVLYNVF TPHGPDLYGT
310 320 330 340 350
EPWYFYLING FLNFNVAFAL ALLVLPLTSL MEYLLQRFHV QNLGHPYWLT
360 370 380 390 400
LAPMYIWFII FFIQPHKEER FLFPVYPLIC LCGAVALSAL QKCYHFVFQR
410 420 430 440 450
YRLEHYTVTS NWLALGTVFL FGLLSFSRSV ALFRGYHGPL DLYPEFYRIA
460 470 480 490 500
TDPTIHTVPE GRPVNVCVGK EWYRFPSSFL LPDNWQLQFI PSEFRGQLPK
510 520 530 540 550
PFAEGPLATR IVPTDMNDQN LEEPSRYIDI SKCHYLVDLD TMRETPREPK
560 570 580 590 600
YSSNKEEWIS LAYRPFLDAS RSSKLLRAFY VPFLSDQYTV YVNYTILKPR
610
KAKQIRKKSG G
Length:611
Mass (Da):69,863
Last modified:August 30, 2005 - v2
Checksum:i51EC72DDBD866713
GO
Isoform 2 (identifier: Q9H6U8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-171: Missing.

Show »
Length:440
Mass (Da):50,820
Checksum:i42D3547330EA5EBB
GO
Isoform 3 (identifier: Q9H6U8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     391-391: Q → QHSFLYFQ

Show »
Length:618
Mass (Da):70,786
Checksum:i05790C3513BF8A4D
GO
Isoform 4 (identifier: Q9H6U8-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-171: Missing.
     391-391: Q → QHSFLYFQ

Note: No experimental confirmation available.
Show »
Length:447
Mass (Da):51,743
Checksum:i21DA4AC7B2DE59DE
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti309N → K (PubMed:12030331).Curated1
Sequence conflicti309N → K (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_049221232A → P.Corresponds to variant rs36111204dbSNPEnsembl.1
Natural variantiVAR_049222255S → L.Corresponds to variant rs17113312dbSNPEnsembl.1
Natural variantiVAR_023410287Y → C in CDG1L; impairs activity. 1 PublicationCorresponds to variant rs121908023dbSNPEnsembl.1
Natural variantiVAR_023411289V → I.3 PublicationsCorresponds to variant rs10502151dbSNPEnsembl.1
Natural variantiVAR_023412506P → L.1 PublicationCorresponds to variant rs185149177dbSNPEnsembl.1
Natural variantiVAR_023413523E → K in CDG1L; impairs activity. 1 PublicationCorresponds to variant rs121908022dbSNPEnsembl.1
Natural variantiVAR_049223528I → S.Corresponds to variant rs12575909dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0154341 – 171Missing in isoform 2 and isoform 4. 2 PublicationsAdd BLAST171
Alternative sequenceiVSP_015435391Q → QHSFLYFQ in isoform 3 and isoform 4. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF395532 mRNA. Translation: AAL25798.1.
AF454937 mRNA. Translation: AAP97696.1.
AL136927 mRNA. Translation: CAB66861.1.
AK025498 mRNA. Translation: BAB15154.1.
AK172828 mRNA. Translation: BAD18793.1.
BC009255 mRNA. Translation: AAH09255.1.
CCDSiCCDS41714.1. [Q9H6U8-4]
CCDS53709.1. [Q9H6U8-2]
CCDS73379.1. [Q9H6U8-1]
CCDS73380.1. [Q9H6U8-3]
RefSeqiNP_001071158.1. NM_001077690.1. [Q9H6U8-1]
NP_001071159.1. NM_001077691.1. [Q9H6U8-4]
NP_001071160.1. NM_001077692.1. [Q9H6U8-2]
NP_079016.2. NM_024740.2. [Q9H6U8-3]
XP_016873808.1. XM_017018319.1. [Q9H6U8-4]
XP_016873809.1. XM_017018320.1. [Q9H6U8-4]
XP_016873810.1. XM_017018321.1. [Q9H6U8-2]
XP_016873811.1. XM_017018322.1. [Q9H6U8-2]
UniGeneiHs.745155.

Genome annotation databases

EnsembliENST00000398006; ENSP00000381090; ENSG00000086848. [Q9H6U8-2]
ENST00000531154; ENSP00000435517; ENSG00000086848. [Q9H6U8-4]
ENST00000614444; ENSP00000484200; ENSG00000086848. [Q9H6U8-1]
ENST00000616540; ENSP00000482437; ENSG00000086848. [Q9H6U8-3]
GeneIDi79796.
KEGGihsa:79796.
UCSCiuc001ply.4. human. [Q9H6U8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF395532 mRNA. Translation: AAL25798.1.
AF454937 mRNA. Translation: AAP97696.1.
AL136927 mRNA. Translation: CAB66861.1.
AK025498 mRNA. Translation: BAB15154.1.
AK172828 mRNA. Translation: BAD18793.1.
BC009255 mRNA. Translation: AAH09255.1.
CCDSiCCDS41714.1. [Q9H6U8-4]
CCDS53709.1. [Q9H6U8-2]
CCDS73379.1. [Q9H6U8-1]
CCDS73380.1. [Q9H6U8-3]
RefSeqiNP_001071158.1. NM_001077690.1. [Q9H6U8-1]
NP_001071159.1. NM_001077691.1. [Q9H6U8-4]
NP_001071160.1. NM_001077692.1. [Q9H6U8-2]
NP_079016.2. NM_024740.2. [Q9H6U8-3]
XP_016873808.1. XM_017018319.1. [Q9H6U8-4]
XP_016873809.1. XM_017018320.1. [Q9H6U8-4]
XP_016873810.1. XM_017018321.1. [Q9H6U8-2]
XP_016873811.1. XM_017018322.1. [Q9H6U8-2]
UniGeneiHs.745155.

3D structure databases

ProteinModelPortaliQ9H6U8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122893. 33 interactors.
IntActiQ9H6U8. 6 interactors.
MINTiMINT-3068633.
STRINGi9606.ENSP00000435517.

Protein family/group databases

CAZyiGT22. Glycosyltransferase Family 22.

PTM databases

iPTMnetiQ9H6U8.
PhosphoSitePlusiQ9H6U8.

Polymorphism and mutation databases

BioMutaiALG9.
DMDMi73921666.

Proteomic databases

EPDiQ9H6U8.
MaxQBiQ9H6U8.
PaxDbiQ9H6U8.
PeptideAtlasiQ9H6U8.
PRIDEiQ9H6U8.

Protocols and materials databases

DNASUi79796.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000398006; ENSP00000381090; ENSG00000086848. [Q9H6U8-2]
ENST00000531154; ENSP00000435517; ENSG00000086848. [Q9H6U8-4]
ENST00000614444; ENSP00000484200; ENSG00000086848. [Q9H6U8-1]
ENST00000616540; ENSP00000482437; ENSG00000086848. [Q9H6U8-3]
GeneIDi79796.
KEGGihsa:79796.
UCSCiuc001ply.4. human. [Q9H6U8-1]

Organism-specific databases

CTDi79796.
DisGeNETi79796.
GeneCardsiALG9.
GeneReviewsiALG9.
HGNCiHGNC:15672. ALG9.
HPAiHPA038575.
MalaCardsiALG9.
MIMi606941. gene.
608776. phenotype.
neXtProtiNX_Q9H6U8.
OpenTargetsiENSG00000086848.
Orphaneti79328. ALG9-CDG.
PharmGKBiPA134887582.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2515. Eukaryota.
ENOG410XP6D. LUCA.
GeneTreeiENSGT00390000004731.
HOVERGENiHBG062906.
InParanoidiQ9H6U8.
KOiK03846.
OrthoDBiEOG091G01ZZ.
PhylomeDBiQ9H6U8.

Enzyme and pathway databases

UniPathwayiUPA00378.
BRENDAi2.4.1.259. 2681.
2.4.1.261. 2681.
ReactomeiR-HSA-446193. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.

Miscellaneous databases

GeneWikiiALG9.
GenomeRNAii79796.
PROiQ9H6U8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000086848.
CleanExiHS_ALG9.
ExpressionAtlasiQ9H6U8. baseline and differential.
GenevisibleiQ9H6U8. HS.

Family and domain databases

InterProiIPR005599. GPI_mannosylTrfase.
[Graphical view]
PANTHERiPTHR22760. PTHR22760. 1 hit.
PfamiPF03901. Glyco_transf_22. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiALG9_HUMAN
AccessioniPrimary (citable) accession number: Q9H6U8
Secondary accession number(s): Q6ZMD5
, Q7Z4R4, Q96GS7, Q96PB9, Q9H068
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: August 30, 2005
Last modified: November 30, 2016
This is version 129 of the entry and version 2 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 11
    Human chromosome 11: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.