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FLASH GENE

Symbol

SH3GL1

contributors: mct - updated : 08-03-2011

HGNC name	SH3-domain GRB2-like 1
HGNC id	10830

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

text	several alternative transcripts

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001199944 - - 2217 - 304 - 1997 9122235 NM_003025 10 - 2460 - 368 - 1997 9122235 NM_001199943 - - 2415 - 320 - 1997 9122235

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 Digestive salivary gland       highly Endocrine pancreas         Lymphoid/Immune tonsils       highly Reproductive female system uterus cervix   highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine

cell lineage
cell lines
fluid/secretion	lymph

at STAGE

cell cycle

cell cycle

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

one SH3 domain at the C terminus

HOMOLOGY

interspecies

homolog to murine Sh3d2b

intraspecies

homolog to Src-homology 3 domain GRB2-like gene 1

Homologene

FAMILY

endophilin A family

CATEGORY

adaptor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,cytosolic
text	cytosol of neuronal cells

basic FUNCTION	may be playing a regulatory role in synaptic vesicle recycling
	involved in the formation of endocytic vesicles
	playing a role in the cell cycle
	involves the mechanism of action of CLEC7A on phagocytosis in macrophages
	SH3GL1 post-translationaly modified by ubiquitin-like protein FAU is a regulator of innate immunity

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	synaptojanin and dynamin
	interacting with CREBBP
	interacting with FAU (post-translational modification of SH3GL1 by FAU might be implicated in phagocytosis by macrophages)
	SH3GL2, SH3GL1, and SH3GL3, are recruited to the necks of endocytic clathrin-coated pits by its curvature sensitive BAR domain and binds both dynamin and synaptojanin

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       fused with HRX (MLL) in acute lymphoblastic leukemia with translocation t(11;19)(q23;q13

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS