Alpha-1,2-mannosyltransferase ALG9 - Homo sapiens (Human)

Names and origin

Protein names

Recommended name:
    Alpha-1,2-mannosyltransferase ALG9
    EC=2.4.1.-
Alternative name(s):
    Asparagine-linked glycosylation protein 9 homolog
    Disrupted in bipolar disorder protein 1

Gene names

Name:	ALG9
Synonyms:	DIBD1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	611 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

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General annotation (Comments)

Function	Catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides.
Pathway	Protein modification; protein glycosylation.
Subcellular location	Endoplasmic reticulum membrane; Multi-pass membrane proteinProbable.
Tissue specificity	Ubiquitously expressed; with highest levels in heart, liver and pancreas.
Involvement in disease	A chromosomal aberration involving ALG9 is found in a family with bipolar affective disorder. Translocation t(9;11)(p24;q23). Defects in ALG9 are the cause of congenital disorder of glycosylation type 1L (CDG1L) [MIM:608776]. CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of 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.

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Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Alternative splicing Chromosomal rearrangement Polymorphism
Disease	Congenital disorder of glycosylation Disease mutation
Domain	Transmembrane
Molecular function	Glycosyltransferase Transferase
PTM	Glycoprotein
Gene Ontology (GO)
Biological process	GPI anchor biosynthetic process Inferred from electronic annotation. Source: InterPro
Cellular component	endoplasmic reticulum membrane Inferred from electronic annotation. Source: InterPro integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	glucosyltransferase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

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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
Notes: No experimental confirmation available.

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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

Potential

Topological domain

157 – 171

15

Cytoplasmic Potential

Transmembrane

172 – 192

21

Potential

Topological domain

193 – 213

21

Lumenal Potential

Transmembrane

214 – 234

21

Potential

Topological domain

235 – 249

15

Cytoplasmic Potential

Transmembrane

250 – 270

21

Potential

Topological domain

271 – 304

34

Lumenal Potential

Transmembrane

305 – 325

21

Potential

Topological domain

326 – 342

17

Cytoplasmic Potential

Transmembrane

343 – 363

21

Potential

Topological domain

364 – 370

7

Lumenal Potential

Transmembrane

371 – 391

21

Potential

Topological domain

392 – 405

14

Cytoplasmic Potential

Transmembrane

406 – 426

21

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

287

1

Y → C in CDG1L; impairs activity.

VAR_023410

Natural variant

289

1

V → I

VAR_023411

Natural variant

506

1

P → L

VAR_023412

Natural variant

523

1

E → K in CDG1L; impairs activity.

VAR_023413

Experimental info

Sequence conflict

309

1

N → K Ref.1 Ref.2

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Sequences

Sequence		Length	Mass (Da)
Isoform 1 [UniParc]. Last modified August 30, 2005. Version 2. Checksum: 51EC72DDBD866713 Show »	FASTA	611	69,863
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 »		440	50,820
10 20 30 40 50 60 MMLAFLVLST GMFCSSSAFL PSSFCMYTTL IAMTGWYMDK TSIAVLGVAA GAILGWPFSA 70 80 90 100 110 120 ALGLPIAFDL LVMKHRWKSF FHWSLMALIL FLVPVVVIDS YYYGKLVIAP LNIVLYNVFT 130 140 150 160 170 180 PHGPDLYGTE PWYFYLINGF LNFNVAFALA LLVLPLTSLM EYLLQRFHVQ NLGHPYWLTL 190 200 210 220 230 240 APMYIWFIIF FIQPHKEERF LFPVYPLICL CGAVALSALQ KCYHFVFQRY RLEHYTVTSN 250 260 270 280 290 300 WLALGTVFLF GLLSFSRSVA LFRGYHGPLD LYPEFYRIAT DPTIHTVPEG RPVNVCVGKE 310 320 330 340 350 360 WYRFPSSFLL PDNWQLQFIP SEFRGQLPKP FAEGPLATRI VPTDMNDQNL EEPSRYIDIS 370 380 390 400 410 420 KCHYLVDLDT MRETPREPKY SSNKEEWISL AYRPFLDASR SSKLLRAFYV PFLSDQYTVY 430 440 VNYTILKPRK AKQIRKKSGG « Hide
Isoform 3 [UniParc]. Checksum: 05790C3513BF8A4D Show »		618	70,786
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 QHSFLYFQKC YHFVFQRYRL EHYTVTSNWL 430 440 450 460 470 480 ALGTVFLFGL LSFSRSVALF RGYHGPLDLY PEFYRIATDP TIHTVPEGRP VNVCVGKEWY 490 500 510 520 530 540 RFPSSFLLPD NWQLQFIPSE FRGQLPKPFA EGPLATRIVP TDMNDQNLEE PSRYIDISKC 550 560 570 580 590 600 HYLVDLDTMR ETPREPKYSS NKEEWISLAY RPFLDASRSS KLLRAFYVPF LSDQYTVYVN 610 YTILKPRKAK QIRKKSGG « Hide
Isoform 4 [UniParc]. Checksum: 21DA4AC7B2DE59DE Show »		447	51,743
10 20 30 40 50 60 MMLAFLVLST GMFCSSSAFL PSSFCMYTTL IAMTGWYMDK TSIAVLGVAA GAILGWPFSA 70 80 90 100 110 120 ALGLPIAFDL LVMKHRWKSF FHWSLMALIL FLVPVVVIDS YYYGKLVIAP LNIVLYNVFT 130 140 150 160 170 180 PHGPDLYGTE PWYFYLINGF LNFNVAFALA LLVLPLTSLM EYLLQRFHVQ NLGHPYWLTL 190 200 210 220 230 240 APMYIWFIIF FIQPHKEERF LFPVYPLICL CGAVALSALQ HSFLYFQKCY HFVFQRYRLE 250 260 270 280 290 300 HYTVTSNWLA LGTVFLFGLL SFSRSVALFR GYHGPLDLYP EFYRIATDPT IHTVPEGRPV 310 320 330 340 350 360 NVCVGKEWYR FPSSFLLPDN WQLQFIPSEF RGQLPKPFAE GPLATRIVPT DMNDQNLEEP 370 380 390 400 410 420 SRYIDISKCH YLVDLDTMRE TPREPKYSSN KEEWISLAYR PFLDASRSSK LLRAFYVPFL 430 440 SDQYTVYVNY TILKPRKAKQ IRKKSGG « Hide

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References

	« Hide 'large scale' referencesShow '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: 12030331] [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: 11230166] [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: 14702039] [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: 15489334] [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: 15148656] [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: 15945070] [Abstract] Cited for: FUNCTION, VARIANT CDG1L CYS-287.
+	Additional computationally mapped references.

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Web resources

GGDB

GlycoGene database

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Cross-references

Sequence databases
	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.
RefSeq	NP_001071158.1. NP_001071159.1. NP_001071160.1. NP_079016.2.
UniGene	Hs.503850
3D structure databases
ModBase	Search...
Genome annotation databases
Ensembl	ENSG00000086848. Homo sapiens. [Contig view]
GeneID	79796.
KEGG	hsa:79796.
Organism-specific databases
HGNC	HGNC:15672. ALG9.
MIM	606941. gene. 608776. phenotype.
Orphanet	79328. CDG syndrome type IL.
PharmGKB	PA134887582.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	Q9H6U8.
HOVERGEN	Q9H6U8.
Gene expression databases
ArrayExpress	Q9H6U8.
CleanEx	HS_ALG9.
GermOnline	ENSG00000086848. Homo sapiens.
Family and domain databases
InterPro	IPR005599. Alg9_trans. [Graphical view]
PANTHER	PTHR22760. Alg9_trans. 1 hit.
Pfam	PF03901. Glyco_transf_22. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	69332.
SOURCE	Search...

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Entry information

Entry name

ALG9_HUMAN

Accession

Primary (citable) accession number: Q9H6U8
Secondary accession number(s): Q6ZMD5

Q9H068

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 30, 2005
Last sequence update:	August 30, 2005
Last modified:	November 25, 2008
This is version 50 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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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

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Keywords

Gene Ontology (GO)

Alternative products

Sequence annotation (Features)

Molecule processing

Regions

Sites

Amino acid modifications

Natural variations

Experimental info

Sequences

References

Web resources

Cross-references

Sequence databases

3D structure databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents