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Q9H6U8 (ALG9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 106. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | 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:
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 names
Name:ALG9
Synonyms:DIBD1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length611 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides. Ref.6 Ref.7

Catalytic activity

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.

Pathway

Protein modification; protein glycosylation.

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein Probable.

Tissue specificity

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

Involvement in disease

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) [MIM:608776]: 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. Ref.6 Ref.7

Sequence similarities

Belongs to the glycosyltransferase 22 family.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9H6U8-1)

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: Q9H6U8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-171: Missing.
Isoform 3 (identifier: Q9H6U8-3)

The sequence of this isoform differs from the canonical sequence as follows:
     391-391: Q → QHSFLYFQ
Isoform 4 (identifier: Q9H6U8-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-171: Missing.
     391-391: Q → QHSFLYFQ
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 611611Alpha-1,2-mannosyltransferase ALG9
PRO_0000215787

Regions

Topological domain1 – 135135Lumenal Potential
Transmembrane136 – 15621Helical; Potential
Topological domain157 – 17115Cytoplasmic Potential
Transmembrane172 – 19221Helical; Potential
Topological domain193 – 21321Lumenal Potential
Transmembrane214 – 23421Helical; Potential
Topological domain235 – 24915Cytoplasmic Potential
Transmembrane250 – 27021Helical; Potential
Topological domain271 – 30434Lumenal Potential
Transmembrane305 – 32521Helical; Potential
Topological domain326 – 34217Cytoplasmic Potential
Transmembrane343 – 36321Helical; Potential
Topological domain364 – 3707Lumenal Potential
Transmembrane371 – 39121Helical; Potential
Topological domain392 – 40514Cytoplasmic Potential
Transmembrane406 – 42621Helical; Potential
Topological domain427 – 611185Lumenal Potential

Sites

Site3401Breakpoint for translocation

Amino acid modifications

Glycosylation771N-linked (GlcNAc...) Potential
Glycosylation5931N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 171171Missing in isoform 2 and isoform 4.
VSP_015434
Alternative sequence3911Q → QHSFLYFQ in isoform 3 and isoform 4.
VSP_015435
Natural variant2321A → P.
Corresponds to variant rs36111204 [ dbSNP | Ensembl ].
VAR_049221
Natural variant2551S → L.
Corresponds to variant rs17113312 [ dbSNP | Ensembl ].
VAR_049222
Natural variant2871Y → C in CDG1L; impairs activity. Ref.7
VAR_023410
Natural variant2891V → I. Ref.1 Ref.4 Ref.6
Corresponds to variant rs10502151 [ dbSNP | Ensembl ].
VAR_023411
Natural variant5061P → L. Ref.1
VAR_023412
Natural variant5231E → K in CDG1L; impairs activity. Ref.6
VAR_023413
Natural variant5281I → S.
Corresponds to variant rs12575909 [ dbSNP | Ensembl ].
VAR_049223

Experimental info

Sequence conflict3091N → K Ref.1
Sequence conflict3091N → K Ref.2

Sequences

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

Last modified August 30, 2005. Version 2.
Checksum: 51EC72DDBD866713

FASTA61169,863
        10         20         30         40         50         60 
MASRGARQRL KGSGASSGDT APAADKLREL LGSREAGGAE HRTELSGNKA GQVWAPEGST 

        70         80         90        100        110        120 
AFKCLLSARL CAALLSNISD CDETFNYWEP THYLIYGEGF QTWEYSPAYA IRSYAYLLLH 

       130        140        150        160        170        180 
AWPAAFHARI LQTNKILVFY FLRCLLAFVS CICELYFYKA VCKKFGLHVS RMMLAFLVLS 

       190        200        210        220        230        240 
TGMFCSSSAF LPSSFCMYTT LIAMTGWYMD KTSIAVLGVA AGAILGWPFS AALGLPIAFD 

       250        260        270        280        290        300 
LLVMKHRWKS FFHWSLMALI LFLVPVVVID SYYYGKLVIA PLNIVLYNVF TPHGPDLYGT 

       310        320        330        340        350        360 
EPWYFYLING FLNFNVAFAL ALLVLPLTSL MEYLLQRFHV QNLGHPYWLT LAPMYIWFII 

       370        380        390        400        410        420 
FFIQPHKEER FLFPVYPLIC LCGAVALSAL QKCYHFVFQR YRLEHYTVTS NWLALGTVFL 

       430        440        450        460        470        480 
FGLLSFSRSV ALFRGYHGPL DLYPEFYRIA TDPTIHTVPE GRPVNVCVGK EWYRFPSSFL 

       490        500        510        520        530        540 
LPDNWQLQFI PSEFRGQLPK PFAEGPLATR IVPTDMNDQN LEEPSRYIDI SKCHYLVDLD 

       550        560        570        580        590        600 
TMRETPREPK YSSNKEEWIS LAYRPFLDAS RSSKLLRAFY VPFLSDQYTV YVNYTILKPR 

       610 
KAKQIRKKSG G 

« Hide

Isoform 2 [UniParc].

Checksum: 42D3547330EA5EBB
Show »

FASTA44050,820
Isoform 3 [UniParc].

Checksum: 05790C3513BF8A4D
Show »

FASTA61870,786
Isoform 4 [UniParc].

Checksum: 21DA4AC7B2DE59DE
Show »

FASTA44751,743

References

« Hide 'large scale' references
[1]"A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family."
Baysal B.E., Willett-Brozick J.E., Badner J.A., Corona W., Ferrell R.E., Nimgaonkar V.L., Detera-Wadleigh S.D.
Neurogenetics 4:43-53(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), CHROMOSOMAL TRANSLOCATION, TISSUE SPECIFICITY, VARIANTS ILE-289 AND LEU-506.
[2]Guo J.H., Yu L.
Submitted (DEC-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Lymphoma.
[3]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Uterus.
[4]"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] (ISOFORMS 3 AND 4), VARIANT ILE-289.
[5]"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 3).
Tissue: Muscle.
[6]"Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL."
Frank C.G., Grubenmann C.E., Eyaid W., Berger E.G., Aebi M., Hennet T.
Am. J. Hum. Genet. 75:146-150(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, VARIANT CDG1L LYS-523, VARIANT ILE-289.
[7]"CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features."
Weinstein M., Schollen E., Matthijs G., Neupert C., Hennet T., Grubenmann C.E., Frank C.G., Aebi M., Clarke J.T.R., Griffiths A., Seargeant L., Poplawski N.
Am. J. Med. Genet. A 136:194-197(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, VARIANT CDG1L CYS-287.
[8]"Common variations in ALG9 are not associated with bipolar I disorder: a family-based study."
Baysal B.E., Willett-Brozick J.E., Bacanu S.A., Detera-Wadleigh S., Nimgaonkar V.L.
Behav. Brain Funct. 2:25-25(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: LACK OF ASSOCIATION WITH BIPOLAR AFFECTIVE DISORDERS.
+Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS41714.1. [Q9H6U8-4]
CCDS53709.1. [Q9H6U8-2]
RefSeqNP_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]
UniGeneHs.745155.

3D structure databases

ProteinModelPortalQ9H6U8.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122893. 2 interactions.
IntActQ9H6U8. 2 interactions.
MINTMINT-3068633.

Protein family/group databases

CAZyGT22. Glycosyltransferase Family 22.

PTM databases

PhosphoSiteQ9H6U8.

Polymorphism databases

DMDM73921666.

Proteomic databases

MaxQBQ9H6U8.
PaxDbQ9H6U8.
PRIDEQ9H6U8.

Protocols and materials databases

DNASU79796.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000398006; ENSP00000381090; ENSG00000086848. [Q9H6U8-2]
ENST00000531154; ENSP00000435517; ENSG00000086848. [Q9H6U8-4]
ENST00000585430; ENSP00000468731; ENSG00000262577. [Q9H6U8-1]
ENST00000586097; ENSP00000466066; ENSG00000262577. [Q9H6U8-3]
ENST00000587827; ENSP00000465238; ENSG00000262577. [Q9H6U8-4]
ENST00000592795; ENSP00000467759; ENSG00000262577. [Q9H6U8-2]
GeneID79796.
KEGGhsa:79796.
UCSCuc001ply.3. human. [Q9H6U8-1]
uc001plz.3. human. [Q9H6U8-4]
uc021qqm.1. human. [Q9H6U8-3]

Organism-specific databases

CTD79796.
GeneCardsGC11M111652.
GeneReviewsALG9.
HGNCHGNC:15672. ALG9.
HPAHPA038575.
MIM606941. gene.
608776. phenotype.
neXtProtNX_Q9H6U8.
Orphanet79328. ALG9-CDG.
PharmGKBPA134887582.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0072.
HOVERGENHBG062906.
InParanoidQ9H6U8.
KOK03846.
OMAWFHASVE.
PhylomeDBQ9H6U8.

Enzyme and pathway databases

ReactomeREACT_17015. Metabolism of proteins.
UniPathwayUPA00378.

Gene expression databases

BgeeQ9H6U8.
CleanExHS_ALG9.
GenevestigatorQ9H6U8.

Family and domain databases

InterProIPR005599. GPI_mannosylTrfase.
[Graphical view]
PANTHERPTHR22760. PTHR22760. 1 hit.
PfamPF03901. Glyco_transf_22. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiALG9.
GenomeRNAi79796.
NextBio69332.
PROQ9H6U8.
SOURCESearch...

Entry information

Entry nameALG9_HUMAN
AccessionPrimary (citable) accession number: Q9H6U8
Secondary accession number(s): Q6ZMD5 expand/collapse secondary AC list , Q7Z4R4, Q96GS7, Q96PB9, Q9H068
Entry history
Integrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: August 30, 2005
Last modified: July 9, 2014
This is version 106 of the entry and version 2 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 polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM