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FLASH GENE

Symbol

EMC1

contributors: mct - updated : 21-03-2016

HGNC name	ER membrane protein complex subunit 1
HGNC id	28957

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HSCA hypotonia, scoliosis, and cerebellar atrophy
Location	1p36.13      Physical location : -
Synonym name	hypothetical protein LOC23065
	KIAA0090
Synonym symbol(s)	RP1-43E13.1, KIAA0090

DNA

TYPE	functioning gene
STRUCTURE	35.89 kb     23 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_015047 23 - 6690 NP_055862 112 993 - 2016 26942288 NM_001271429 22 - 6624 NP_001258358 - 971 - 2016 26942288 NM_001271428 23 - 6687 NP_001258357 - 992 - 2016 26942288 NM_001271427 22 - 6687 NP_001258356 - 992 - 2016 26942288

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 Reproductive male system testis

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	WD40-like repeat
	two conserved domains: a quinoprotein alcohol dehydrogenase-like domain (PQQ_2) spanning residues 28–242
	an as-yet-uncharacterized domain of unknown function 1620 (DUF1620) including residues 786–992

HOMOLOGY

Homologene

FAMILY

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum

basic FUNCTION	EMC1, EMC3, EMC8, EMC9 are key factors in the biogenesis of multi-pass transmembrane proteins, including RHO, and loss causes retinal degeneration
	having multiple roles in ER-associated degradation, ER-mitochondria tethering, and proper assembly of multi-pass transmembrane proteins
	implicated in ER-mitochondria crosstalk, protein folding, and possibly in ERAD of specific proteins

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

is required for the stable expression of other multi-pass transmembrane proteins such as rhodopsin

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HSCA

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS