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FLASH GENE

Symbol

ERLIN1

contributors: mct - updated : 30-12-2015

HGNC name	ER lipid raft associated 1
HGNC id	16947

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SPG62 spastic paraplegia 62
Location	10q24.31      Physical location : 101.909.847 - 101.945.814
Synonym name	chromosome 10 open reading frame 69
	SPFH domain family, member 1
	Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9
	endoplasmic reticulum lipid raft-associated protein 1
	stomatin-prohibitin-flotillin-HflC/K domain-containing protein 1
Synonym symbol(s)	KE04, KEO4, C10orf69, SPFH1, RP11-316M21.1, Erlin-1, SPG62

DNA

TYPE	functioning gene
STRUCTURE	35.97 kb     12 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	Variants 1 and 2 encode the same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001100626 12 - 3206 NP_001094096 38.9 348 - 2013 24217618 NM_006459 11 - 3450 NP_006450 38.9 348 - 2013 24217618

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 Cardiovascular heart       highly Digestive intestine large intestine colon   moderately   intestine small intestine     moderately Reproductive female system uterus cervix   moderately   female system placenta     moderately   male system testis     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Connective bone       Nervous peripherous

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

extreme N-terminus of ERLIN1 were found to be sufficient for heterologous targeting of GFP to the ER in the absence of classical ER retrieval motifs

HOMOLOGY

interspecies

ortholog to murine Spfh1

Homologene

FAMILY

band 7/mec-2 family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	membrane-associated

basic FUNCTION	potential involvement in dendritic cells activation
	ERLIN1/ERLIN2 complex is a factor that selectively mediates the ERAD of activated IP(3) receptors
	ERLIN1, ERLIN2 promote stability of the SREBF-SCAP-INSIG complex and may contribute to the highly cooperative control of this system

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

ERLIN1/2 complex is composed of an assemblage of lower-order hetero-oligomers, probably heterotrimers, linked together by assembly domain hydrophobic AAs

INTERACTION

DNA

RNA

small molecule

protein

multimeric ER proteins ERLIN1 and ERLIN2 are additional SREBF1, SREBF2 regulators

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SPG62

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS