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FLASH GENE

Symbol

ALG11

contributors: mct/npt - updated : 08-07-2010

HGNC name	asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)
HGNC id	32456

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CDG1P congenital disorder of glycosylation, type 1P
Location	13q14.3      Physical location : 52.586.522 - 52.603.778
Synonym name	asparagine-linked glycosylation 11 homolog (yeast, alpha-1,2-mannosyltransferase)
	KIAA0266 protein
	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)
	asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)
Synonym symbol(s)	KIAA0266, MGC104971, UTP14B, UTP14C, GT8
EC.number	2.4.-.-

DNA

TYPE	functioning gene
STRUCTURE	19.52 kb     4 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_021645 2 - 5585 NP_067677 - 766 widely expressed Rohozinski (2006) also called UTP14C putative glycosyl transferase-containing gene required for normal male fertility NM_001004127 4 - 2585 NP_001004127 55 492 - Ewing (2007)

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Lymphoid/Immune lymph node       highly Reproductive male system testis     highly Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a highly conserved potential sugar nucleotide binding motif
	two potential N-glycosylation sites on asparagine AAs 257 and 273
	two transmembrane domains between AAs 20–40 and AAs 234–254 (Rind 2010)

conjugated

GlycoP

HOMOLOGY

Homologene

FAMILY

glycosyltransferase 1 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic
text	cytosolic localization not only of the protein domain between the two hydrophobic helices, but also of the C-terminus, coinciding with the potential catalytic domain (Rind 2010)

basic FUNCTION	catalyze the next two sequential alpha1,2-mannosylations
	prior to its lumenal translocation and transfer to nascent glycoproteins, involved in mannosylation of Man(5)GlcNAc(2)-PP-dolichol (Gao 2004)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

interaction between ALG1, ALG2, ALG11 (an additional level of regulation that ensures the fidelity of complex oligosaccharide structures involves the physical association of the related catalytic enzymes in the ER membrane)(Gao 2004)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CDG1P

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS