Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

AIMP1

contributors: mct - updated : 05-07-2017

HGNC name	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
HGNC id	10648

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PMLD3 Pelizaeus-Merzbacher-like disease 3
Location	4q24      Physical location : 107.236.766 - 107.270.379
Synonym name	endothelial monocyte-activating polypeptide
	ARS-interacting multifunctional prtotein 1
	Apoptosis-released Factor
	small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating)
	multisynthetase complex p43
Synonym symbol(s)	p43, EMAP2, EMAPII, EMAP-2, p43(ARF), SCYE1, MSCp43

DNA

TYPE	functioning gene
STRUCTURE	33.61 kb     7 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001142415 7 - 2537 NP_001135887 - 312 - 1994 7545917 NM_001142416 7 - 2598 NP_001135888 - 336 - 1994 7545917 NM_004757 7 - 3159 NP_004748 - 312 - 1994 7545917

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 esophagus       highly Hearing/Equilibrium ear inner cochlea   highly Lymphoid/Immune lymph node       highly Nervous nerve       predominantly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly Epithelial secretory glandular endocrine

cells

System Cell Pubmed Species Stage Rna symbol Cardiovascular endothelial cell Endocrine islet cell (alpha,beta...) Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	72 AA N-terminal extension within the multi-ARS complex, helping the catalytic activity and cellular stability of the bound enzyme, and binds arginyl-tRNA synthetase, and N terminus region 1–70 aa is a binding partner of the MSC complex RARS
	one tRNA-binding domain in the precursor form
	central part holds the C-terminal domain of heat shock protein gp96 in endoplasmic reticulum, thereby preventing false activation of autoimmune reaction
	N terminus of AIMP1 can bind with its C terminus to repress punctate structure formation, that it has a putative leucine zipper, that it is the region responsible for the binding of MSC subunits

isoforms

Precursor

about 20kDa after proteolytic cleavage in tumor cells. Several forms like p43(EMAPII) and p43(ARF) produced by cleavage

HOMOLOGY

Homologene

FAMILY

CATEGORY

RNA associated , signaling cytokine

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus
text	normally retained intracellularly but can be released after proteolytic cleavage due to apoptosis and hypoxia

basic FUNCTION	may function in binding tRNA in normal cells and in stimulating inflammatory response after proteolytic cleavage in tumor cells
	mediator of the activation of endothelial cells and the activation and chemotaxis of neutrophils ans mononuclear phagocytes
	sensitizes the tumor-associated vasculature to tumor necrosis factor
	plays a role in accumultaion of macrophages at sites of its expression in uveal melanoma
	may have a role in the pathophysiology of secondary injury following spinal cord injury (SCI)
	also involved in embryonic development
	cytokine working in the control of angiogenesis, inflammation, and wound healing
	playing a glucagon-like role in glucose homeostasis
	negatively regulates TGFB signaling via stabilization of SMURF2
	having a critical role for the suppression of lupus-type autoimmune disease through the interaction with ER-resident chaperone, gp96
	factor associated with a macromolecular aminoacyl-tRNA synthetase (ARS) complex but also plays diverse regulatory roles in various physiological processes
	having a activity as a component of negative feedback loop of TGF-beta signaling
	essential for neurofilaments assembly and axon maintenance and indispensable in maintaining axonal integrity
	negative regulator of neurofilaments phosphorylation
	may be playing q role in the pathogenesis of CMT neuropathy type 2D (CMT2D)

CELLULAR PROCESS	cell life, proliferation/growth

PHYSIOLOGICAL PROCESS

inflammation

PATHWAY

metabolism

signaling

signal transduction

a component

component of the multi-tRNA synthetase complex

INTERACTION

DNA

RNA	tRNA binding

small molecule

protein	binds to WW domains of SMURF2 (interaction of the C-terminal region of SCYE1 directly with the Smad7-binding region of SMURF2)
	negatively regulates TGF-beta signaling via stabilization of SMURF2
	into the cytoplasmic compartment interacts with its cytoplasmic partner PSMA7, a component of the proteasome degradation pathway
	cofactor of the macromolecular ARS (aminoacyl-tRNA synthetase) complex
	interacting directly with neurofilament-light subunit (Zhu 2009)
	can form a molecular complex with HSP90B1, regulate the ER retention of HSP90B1 through KDELR1, and suppress its cell surface expression
	binds and helps the catalytic reaction of arginyl-tRNA synthetase
	importance of interactions between the N-terminal domains of RARS and AIMP1 for the catalytic and noncatalytic activities of RARS and for the assembly of the higher-order multisynthetase complex (MSC) protein complex

cell & other

REGULATION

induced by

apoptosis

inhibited by

PGE2

repressed by

RARS over-expression associated with a reduced AIMP1 secretion

Other

could be phosphorylated by activation of JNK through TLR4-MYD88 pathway

ASSOCIATED DISORDERS

corresponding disease(s)

PMLD3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   resulting in the dramatic reduction of plasma gucagon levels, and inducing pancreatic secretion of glucagon for blood glucose homeostasis

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Mice lacking MSC p43 exhibited axon degeneration in motor neurons, defective neuromuscular junctions, muscular atrophy, and motor dysfunction