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FLASH GENE

Symbol

ARL6IP1

contributors: mct/npt - updated : 06-01-2016

HGNC name	ADP-ribosylation factor-like 6 interacting protein 1
HGNC id	697

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SPG61 Spastic paraplegia 61
Location	16p12.3      Physical location : 18.802.990 - 18.812.857
Synonym name	apoptotic regulator in the membrane of the endoplasmic reticulum
	ADP-ribosylation factor-like 6 interacting protein
	addicsin-interacting protein
Synonym symbol(s)	KIAA0069, AIP1, ARMER, ARL6IP, Aip-1

DNA

TYPE	functioning gene
STRUCTURE	9.87 kb     6 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_015161 6 - 2280 NP_055976 23 203 - 2003 12754298 NM_001313858 - - 2341 NP_001300787 - 174 - 2003 12754298

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 pharynx       highly Lymphoid/Immune spleen         Nervous brain       highly Respiratory lung         Urinary bladder       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Connective bone       Lymphoid

cell lineage	myeloid progenitor cells
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four putative transmembrane segments
	reticulon-like short hairpin transmembrane domains
	a COOH-terminal KKXX ER retrieval motif

HOMOLOGY

interspecies

ortholog to murine Tbx2

Homologene

FAMILY

ARL6IP family

CATEGORY

signaling , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic
text	endoplasmic reticulum (ER) integral membrane protein (Lui 2003)

basic FUNCTION	involved in hematopoietic cell maturation
	ER integral membrane protein which protects cells by inhibiting caspase-9 activity and having a possible role in cell survival (Lui 2003)
	addicsin-associated partner that indirectly promotes SLC1A1-mediated glutamate transport activity in a protein kinase C activity-dependent manner
	addicsin-associated partner that promotes SLC1A1-mediated glutamate transport activity by decreasing the number of addicsin molecules available for interaction with SLC1A1
	anti-apoptotic protein specific to multicellular organisms, is a potential player in shaping the ER tubules in mammalian cells
	constricted liposomes into tubules
	has the ability to shape high-curvature ER tubules in a reticulon-like fashion

CELLULAR PROCESS	cell life, differentiation
	cell life, antiapoptosis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	binding to ARL6
	bound directly to addicsin and the hydrophobic region located at amino acids 103-117 of addicsin was crucial to the formation of the ARL6IP1-addicsin heterodimer and addicsin homodimer (Akiduki 2008)
	binds to atlastin, a GTPase that mediates the formation of the tubular ER network

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SPG61

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS