Q9H6U8 (ALG9_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 95.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | 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 names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 611 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence 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 | |
| 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. |
| Sequence similarities | Belongs to the glycosyltransferase 22 family. |
Ontologies
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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 611 | 611 | Alpha-1,2-mannosyltransferase ALG9 | PRO_0000215787 | |||||
Regions | |||||||||
| Topological domain | 1 – 135 | 135 | Lumenal Potential | ||||||
| Transmembrane | 136 – 156 | 21 | Helical; Potential | ||||||
| Topological domain | 157 – 171 | 15 | Cytoplasmic Potential | ||||||
| Transmembrane | 172 – 192 | 21 | Helical; Potential | ||||||
| Topological domain | 193 – 213 | 21 | Lumenal Potential | ||||||
| Transmembrane | 214 – 234 | 21 | Helical; Potential | ||||||
| Topological domain | 235 – 249 | 15 | Cytoplasmic Potential | ||||||
| Transmembrane | 250 – 270 | 21 | Helical; Potential | ||||||
| Topological domain | 271 – 304 | 34 | Lumenal Potential | ||||||
| Transmembrane | 305 – 325 | 21 | Helical; Potential | ||||||
| Topological domain | 326 – 342 | 17 | Cytoplasmic Potential | ||||||
| Transmembrane | 343 – 363 | 21 | Helical; Potential | ||||||
| Topological domain | 364 – 370 | 7 | Lumenal Potential | ||||||
| Transmembrane | 371 – 391 | 21 | Helical; Potential | ||||||
| Topological domain | 392 – 405 | 14 | Cytoplasmic Potential | ||||||
| Transmembrane | 406 – 426 | 21 | Helical; Potential | ||||||
| Topological domain | 427 – 611 | 185 | Lumenal Potential | ||||||
Sites | |||||||||
| Site | 340 | 1 | Breakpoint for translocation | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 77 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 593 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 171 | 171 | Missing in isoform 2 and isoform 4. | VSP_015434 | |||||
| Alternative sequence | 391 | 1 | Q → QHSFLYFQ in isoform 3 and isoform 4. | VSP_015435 | |||||
| Natural variant | 232 | 1 | A → P. Corresponds to variant rs36111204 [ dbSNP | Ensembl ]. | VAR_049221 | |||||
| Natural variant | 255 | 1 | S → L. Corresponds to variant rs17113312 [ dbSNP | Ensembl ]. | VAR_049222 | |||||
| Natural variant | 287 | 1 | Y → C in CDG1L; impairs activity. Ref.7 | VAR_023410 | |||||
| Natural variant | 289 | 1 | V → I. Ref.1 Ref.4 Ref.6 Corresponds to variant rs10502151 [ dbSNP | Ensembl ]. | VAR_023411 | |||||
| Natural variant | 506 | 1 | P → L. Ref.1 | VAR_023412 | |||||
| Natural variant | 523 | 1 | E → K in CDG1L; impairs activity. Ref.6 | VAR_023413 | |||||
| Natural variant | 528 | 1 | I → S. Corresponds to variant rs12575909 [ dbSNP | Ensembl ]. | VAR_049223 | |||||
Experimental info | |||||||||
| Sequence conflict | 309 | 1 | N → K Ref.1 | ||||||
| Sequence conflict | 309 | 1 | N → K Ref.2 | ||||||
Sequences
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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. 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. 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 |
| GeneReviews |
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. |
| IPI | IPI00234857. IPI00642390. IPI00645383. IPI00983792. |
| RefSeq | NP_001071158.1. NM_001077690.1. NP_001071159.1. NM_001077691.1. NP_001071160.1. NM_001077692.1. NP_079016.2. NM_024740.2. |
| UniGene | Hs.503850. |
3D structure databases | |
| ProteinModelPortal | Q9H6U8. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9H6U8. 2 interactions. |
Protein family/group databases | |
| CAZy | GT22. Glycosyltransferase Family 22. |
PTM databases | |
| PhosphoSite | Q9H6U8. |
Polymorphism databases | |
| DMDM | 73921666. |
Proteomic databases | |
| PaxDb | Q9H6U8. |
| PRIDE | Q9H6U8. |
Protocols and materials databases | |
| DNASU | 79796. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000398006; ENSP00000381090; ENSG00000086848. ENST00000531154; ENSP00000435517; ENSG00000086848. ENST00000585430; ENSP00000468731; ENSG00000262577. ENST00000586097; ENSP00000466066; ENSG00000262577. ENST00000587827; ENSP00000465238; ENSG00000262577. ENST00000592795; ENSP00000467759; ENSG00000262577. |
| GeneID | 79796. |
| KEGG | hsa:79796. |
| UCSC | uc001ply.3. human. uc001plz.3. human. uc021qqm.1. human. |
Organism-specific databases | |
| CTD | 79796. |
| GeneCards | GC11M111652. |
| HGNC | HGNC:15672. ALG9. |
| HPA | HPA038575. |
| MIM | 606941. gene. 608776. phenotype. |
| neXtProt | NX_Q9H6U8. |
| Orphanet | 79328. CDG syndrome type IL. |
| PharmGKB | PA134887582. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0072. |
| HOVERGEN | HBG062906. |
| InParanoid | Q9H6U8. |
| KO | K03846. |
| OrthoDB | EOG4GB75G. |
Enzyme and pathway databases | |
| Reactome | REACT_17015. Metabolism of proteins. |
| UniPathway | UPA00378. |
Gene expression databases | |
| Bgee | Q9H6U8. |
| CleanEx | HS_ALG9. |
| Genevestigator | Q9H6U8. |
| GermOnline | ENSG00000086848. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR005599. GPI_mannosylTrfase. [Graphical view] |
| PANTHER | PTHR22760. PTHR22760. 1 hit. |
| Pfam | PF03901. Glyco_transf_22. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 79796. |
| NextBio | 69332. |
| SOURCE | Search... |
Entry information
| Entry name | ALG9_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9H6U8 Secondary accession number(s): Q6ZMD5 Q9H068 | ||||||||
| Entry 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. | ||||||||
Relevant documents
| Human chromosome 11 Human chromosome 11: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PATHWAY comments Index of metabolic and biosynthesis pathways |
| SIMILARITY comments Index of protein domains and families |

Clusters with
