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FLASH GENE

Symbol

ARCN1

contributors: mct - updated : 19-09-2016

HGNC name	archain 1
HGNC id	649

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MGMD micrognathia, short stature, microcephalic dwarfism
Location	11q23.3      Physical location : 118.443.101 - 118.473.745
Synonym name	archain vesicle transport protein 1
	coatomer protein complex, subunit delta
	delta-coat protein
	coatomer protein delta-COP
Synonym symbol(s)	COPD

DNA

TYPE	functioning gene
STRUCTURE	30.65 kb     10 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_001655 10 - 4032 NP_001646 57.2 511 - 2012 23300798 NM_001142281 9 - 3768 NP_001135753 - 423 - 2012 23300798

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         Endocrine pancreas         Nervous brain         Reproductive male system prostate       Urinary kidney

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a MHD (mu homology) domain

HOMOLOGY

interspecies

homolog to DNA sequences from Drosophila and murine

Homologene

FAMILY	adaptor complexes medium subunit family
	delta-COP subfamily

CATEGORY

adaptor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic,vesicle
text	co-localized with Golgi and ER (Xu 2010)

basic FUNCTION	may be involved in vesicle structure or trafficking
	delta subunit of the coat protein I (COPI) complex required for intracellular trafficking (Xu 2010)
	involved in ER–Golgi and/or intra-Golgi trafficking in melanocytes (Xu 2010)
	encodes the coatomer subunit delta of COPI

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

binds to dilysine motifs and reversibly associates with golgi non- clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the golgi up to the trans golgi network

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MGMD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       causes diluted coat color and Purkinje cell degeneration

Susceptibility

to glioma

Variant & Polymorphism other	locus within the ARCN1 gene, associated with a significantly reduced risk for glioma

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

mutation in Arcn1 is responsible for the phenotypes in an ENU-induced mouse mutant, nur17, identified by screening for mice with both diluted coat color and ataxia (Xu 2010)