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FLASH GENE

Symbol

SIL1

contributors: mct - updated : 15-02-2011

HGNC name	SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)
HGNC id	24624

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MSS Marinesco-Sjogren syndrome
Location	5q31.2      Physical location : 138.282.411 - 138.534.065
Synonym name	BiP-associated protein
	endoplasmic reticulum chaperone SIL1, homolog of yeast
	SIL1 protein
Synonym symbol(s)	BAP, ULG5

DNA

TYPE	functioning gene
STRUCTURE	251.66 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_001037633 11 - 1996 NP_001032722 - 461 - 2006 17026626 NM_022464 10 - 1908 NP_071909 - 461 - 2006 17026626

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 liver         Nervous brain hindbrain cerebellum     Respiratory respiratory tract larynx     highly Skin/Tegument skin

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an N-terminal ER targeting sequence
	2 putative N-glycosylation sites
	a C-terminal ER retention signal, and very C-terminal AAs of SIL1 play a role potential in its structural integrity rather than its localization

conjugated

GlycoP

HOMOLOGY

Homologene

FAMILY

SIL1 family

CATEGORY

chaperone/stress , regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
text	wild-type protein could be detected in the Golgi as well as the ER

basic FUNCTION	ER protein, nucleotide exchange factor that regulates the ATPase activity of HSPA5
	adenine nucleotide exchange factor of the essential ER lumen chaperone HSPA5 that senses ER stress and is involved in protein folding
	facilitates the release of HSPA5 from unfolded protein substrates, enabling the subsequent folding and transport of the protein

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

interacts with the ATPase domain of BIP (HSPA5), cochaperone of HSPA5(first nucleotide exchange factor for HSPA5, binding to its ATPase domain in the ER lumen)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MSS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function in neurodegeneration of cerebellar Purkinje cells

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS