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FLASH GENE

Symbol

ALG13

contributors: mct - updated : 17-01-2015

HGNC name	asparagine-linked glycosylation 13 homolog (S. cerevisiae)
HGNC id	30881

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CDG1S congenital disorder of glycosylation, type IS EIEE36 epileptic encephalopathy, early infantile, 36 MRX80 mental retardation, 80
Location	Xq23      Physical location : 110.924.345 - 111.003.873
Synonym name	uncharacterized hematopoietic stem/progenitor cells protein MDS031
	asparagine-linked glycosylation 13 homolog (yeast)
	glycosyltransferase 28 domain containing 1
	chromosome X open reading frame 45
Synonym symbol(s)	MDS031, GLT28D1, CXorf45, YGL047W, FLJ23018, TDRD13, CSG1S,
EC.number	2.4.1.141/ 3.4.19.12

DNA

TYPE	functioning gene
STRUCTURE	83.42 kb     27 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_001168385 4 - 3031 18 165 - 2008 18809682         NP_001161857 - 133 - 2008 18809682 NM_001099922 27 - 4179 NP_001093392 - 1137 - 2008 18809682 NM_001257230 26 - 3838 NP_001244159 - 954 - 2008 18809682 NM_018466 4 - 2993 NP_060936 - 165 - 2008 18809682 NM_001039210 4 - 2934 NP_001034299 - 138 - 2008 18809682 NM_001257231 27 - 4193 NP_001244160 - 1059 - 2008 18809682 NM_001257235 4 - 2962 NP_001244164 - 61 - 2008 18809682 NM_001257237 26 - 4015 NP_001244166 - 954 - 2008 18809682 NM_001257234 26 - 3911 NP_001244163 - 954 - 2008 18809682 NM_001257239 - - 2981 NP_001244168 - 62 - 2008 18809682 NM_001257240 4 - 3055 NP_001244169 - 61 - 2008 18809682 NM_001257241 4 - 3007 NP_001244170 - 87 - 2008 18809682 NM_001324290 4 - 1404 NP_001311219 - 167 - 2008 18809682 NM_001168385 5 - 1436 NP_001161857 - 133 - 2008 18809682 NM_001324291 4 - 1294 NP_001311220 - 61 - 2008 18809682 NM_001324293 24 - 3287 NP_001311222 - 896 - 2008 18809682 NM_001324292 26 - 3928 NP_001311221 - 1058 - 2008 18809682

EXPRESSION

Type

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 Digestive stomach         Endocrine parathyroid         Lymphoid/Immune lymph node         Urinary bladder

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	N-terminal beta-strand having an important rolein protein stability
	short C-terminal alpha-helix required for interaction with ALG14 and for enzyme activity

HOMOLOGY

interspecies

homolog to murine Glt28d1 (86.7pc)

Homologene

FAMILY

glycosyltransferase 28 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic
text	ALG14 recruits cytosolic ALG13 to the ER membrane through interaction between their C-termini

basic FUNCTION	may be involved in N-linked glycosylation
	second step of eukaryotic N-linked glycosylation in endoplasmic reticulum is catalyzed by an UDP-N-acetylglucosamine transferase that is comprised of two subunits, ALG13 and ALG14
	subunit of the uridine diphosphate-N-acetylglucosamine transferase

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interaction between ALG13 and 14 is crucial for UDP-GlcNAc transferase activity, so formation of the ALG13/14 complex is likely to play a key role in the regulation of N-glycosylation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CDG1S , MRX80 , EIEE36

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS