Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9255
Gene name Gene Name - the full gene name approved by the HGNC.	Aminoacyl tRNA synthetase complex interacting multifunctional protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	AIMP1
Synonyms (NCBI Gene) Gene synonyms aliases	EMAP2, EMAPII, HLD3, SCYE1, p43
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4q24
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a cytokine that is specifically induced by apoptosis, and it is involved in the control of angiogenesis, inflammation, and wound healing. The release of this cytokine renders the tumor-associated vasculature sensitive t

Show/Hide all(5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs387906865	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs724159969	C>T	Pathogenic	Stop gained, coding sequence variant
rs750731609	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs879253867	C>T	Pathogenic	Coding sequence variant, stop gained
rs1057520101	AGAAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(139)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020704	hsa-miR-155-5p	Proteomics	18668040
MIRT031610	hsa-miR-16-5p	Proteomics	18668040
MIRT543891	hsa-miR-3133	PAR-CLIP	21572407
MIRT543890	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT543889	hsa-miR-320a	PAR-CLIP	21572407
MIRT543888	hsa-miR-320b	PAR-CLIP	21572407
MIRT543887	hsa-miR-320c	PAR-CLIP	21572407
MIRT543886	hsa-miR-320d	PAR-CLIP	21572407
MIRT543885	hsa-miR-4429	PAR-CLIP	21572407
MIRT355843	hsa-miR-101-5p	PAR-CLIP	21572407
MIRT543884	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT543883	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT329263	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT543882	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT329262	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT329264	hsa-miR-568	PAR-CLIP	21572407
MIRT543891	hsa-miR-3133	PAR-CLIP	21572407
MIRT543890	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT543889	hsa-miR-320a	PAR-CLIP	21572407
MIRT543888	hsa-miR-320b	PAR-CLIP	21572407
MIRT543887	hsa-miR-320c	PAR-CLIP	21572407
MIRT543886	hsa-miR-320d	PAR-CLIP	21572407
MIRT543885	hsa-miR-4429	PAR-CLIP	21572407
MIRT355843	hsa-miR-101-5p	PAR-CLIP	21572407
MIRT543884	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT543883	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT329263	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT543882	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT329262	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT329264	hsa-miR-568	PAR-CLIP	21572407
MIRT774512	hsa-miR-331-5p	CLIP-seq
MIRT774513	hsa-miR-4504	CLIP-seq
MIRT774514	hsa-miR-4678	CLIP-seq
MIRT774515	hsa-miR-136	CLIP-seq
MIRT774516	hsa-miR-3183	CLIP-seq
MIRT774517	hsa-miR-4723-3p	CLIP-seq
MIRT774518	hsa-miR-885-5p	CLIP-seq
MIRT774519	hsa-miR-891b	CLIP-seq
MIRT774520	hsa-miR-146a	CLIP-seq
MIRT774521	hsa-miR-146b-5p	CLIP-seq
MIRT774522	hsa-miR-526b	CLIP-seq
MIRT774523	hsa-miR-580	CLIP-seq
MIRT774524	hsa-miR-589	CLIP-seq
MIRT1928584	hsa-miR-3145-3p	CLIP-seq
MIRT2169349	hsa-miR-3662	CLIP-seq
MIRT2169350	hsa-miR-4307	CLIP-seq
MIRT2169351	hsa-miR-548ae	CLIP-seq
MIRT2169352	hsa-miR-548aj	CLIP-seq
MIRT2169353	hsa-miR-548am	CLIP-seq
MIRT2169354	hsa-miR-548x	CLIP-seq
MIRT2471901	hsa-miR-1185	CLIP-seq
MIRT2471902	hsa-miR-1283	CLIP-seq
MIRT2471903	hsa-miR-137	CLIP-seq
MIRT2471904	hsa-miR-1914	CLIP-seq
MIRT2471905	hsa-miR-203	CLIP-seq
MIRT2471906	hsa-miR-300	CLIP-seq
MIRT2471907	hsa-miR-3119	CLIP-seq
MIRT1928584	hsa-miR-3145-3p	CLIP-seq
MIRT2471908	hsa-miR-324-5p	CLIP-seq
MIRT2471909	hsa-miR-338-5p	CLIP-seq
MIRT2471910	hsa-miR-34b	CLIP-seq
MIRT2471911	hsa-miR-3613-3p	CLIP-seq
MIRT2471912	hsa-miR-361-5p	CLIP-seq
MIRT2471913	hsa-miR-3661	CLIP-seq
MIRT2471914	hsa-miR-3679-5p	CLIP-seq
MIRT2471915	hsa-miR-374a	CLIP-seq
MIRT2471916	hsa-miR-374b	CLIP-seq
MIRT2471917	hsa-miR-381	CLIP-seq
MIRT2471918	hsa-miR-3922-5p	CLIP-seq
MIRT2471919	hsa-miR-3924	CLIP-seq
MIRT2471920	hsa-miR-3929	CLIP-seq
MIRT2471921	hsa-miR-3942-3p	CLIP-seq
MIRT2471922	hsa-miR-4252	CLIP-seq
MIRT2471923	hsa-miR-4275	CLIP-seq
MIRT2471924	hsa-miR-4279	CLIP-seq
MIRT2169350	hsa-miR-4307	CLIP-seq
MIRT2471925	hsa-miR-4419b	CLIP-seq
MIRT2471926	hsa-miR-4426	CLIP-seq
MIRT2471927	hsa-miR-4428	CLIP-seq
MIRT2471928	hsa-miR-4468	CLIP-seq
MIRT2471929	hsa-miR-4478	CLIP-seq
MIRT2471930	hsa-miR-4502	CLIP-seq
MIRT2471931	hsa-miR-4528	CLIP-seq
MIRT2471932	hsa-miR-4647	CLIP-seq
MIRT2471933	hsa-miR-4662b	CLIP-seq
MIRT2471934	hsa-miR-4666-3p	CLIP-seq
MIRT2471935	hsa-miR-4668-3p	CLIP-seq
MIRT2471936	hsa-miR-4731-3p	CLIP-seq
MIRT2471937	hsa-miR-4775	CLIP-seq
MIRT2471938	hsa-miR-4793-5p	CLIP-seq
MIRT2471939	hsa-miR-4795-3p	CLIP-seq
MIRT2471940	hsa-miR-4801	CLIP-seq
MIRT2471941	hsa-miR-513a-3p	CLIP-seq
MIRT2471942	hsa-miR-548c-3p	CLIP-seq
MIRT2471943	hsa-miR-550a	CLIP-seq
MIRT2471944	hsa-miR-590-3p	CLIP-seq
MIRT2471945	hsa-miR-600	CLIP-seq
MIRT2471946	hsa-miR-605	CLIP-seq
MIRT2471947	hsa-miR-616	CLIP-seq
MIRT2471948	hsa-miR-631	CLIP-seq
MIRT2471949	hsa-miR-649	CLIP-seq
MIRT2471950	hsa-miR-889	CLIP-seq
MIRT2471901	hsa-miR-1185	CLIP-seq
MIRT2471902	hsa-miR-1283	CLIP-seq
MIRT2471904	hsa-miR-1914	CLIP-seq
MIRT2471905	hsa-miR-203	CLIP-seq
MIRT2471906	hsa-miR-300	CLIP-seq
MIRT2471907	hsa-miR-3119	CLIP-seq
MIRT1928584	hsa-miR-3145-3p	CLIP-seq
MIRT2471908	hsa-miR-324-5p	CLIP-seq
MIRT2471909	hsa-miR-338-5p	CLIP-seq
MIRT2471910	hsa-miR-34b	CLIP-seq
MIRT2471911	hsa-miR-3613-3p	CLIP-seq
MIRT2471913	hsa-miR-3661	CLIP-seq
MIRT2471914	hsa-miR-3679-5p	CLIP-seq
MIRT2471915	hsa-miR-374a	CLIP-seq
MIRT2471916	hsa-miR-374b	CLIP-seq
MIRT2471917	hsa-miR-381	CLIP-seq
MIRT2471918	hsa-miR-3922-5p	CLIP-seq
MIRT2471920	hsa-miR-3929	CLIP-seq
MIRT2471922	hsa-miR-4252	CLIP-seq
MIRT2471924	hsa-miR-4279	CLIP-seq
MIRT2169350	hsa-miR-4307	CLIP-seq
MIRT2471925	hsa-miR-4419b	CLIP-seq
MIRT2471927	hsa-miR-4428	CLIP-seq
MIRT2471929	hsa-miR-4478	CLIP-seq
MIRT2471930	hsa-miR-4502	CLIP-seq
MIRT2471934	hsa-miR-4666-3p	CLIP-seq
MIRT2471935	hsa-miR-4668-3p	CLIP-seq
MIRT2471936	hsa-miR-4731-3p	CLIP-seq
MIRT2471938	hsa-miR-4793-5p	CLIP-seq
MIRT2471940	hsa-miR-4801	CLIP-seq
MIRT2471941	hsa-miR-513a-3p	CLIP-seq
MIRT2471942	hsa-miR-548c-3p	CLIP-seq
MIRT2471943	hsa-miR-550a	CLIP-seq
MIRT2471946	hsa-miR-605	CLIP-seq
MIRT2471947	hsa-miR-616	CLIP-seq
MIRT2471948	hsa-miR-631	CLIP-seq
MIRT2471949	hsa-miR-649	CLIP-seq

Show/Hide all(32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IDA	11306575
GO:0000049	Function	TRNA binding	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001937	Process	Negative regulation of endothelial cell proliferation	IDA	11741979
GO:0003723	Function	RNA binding	IEA
GO:0005125	Function	Cytokine activity	IEA
GO:0005125	Function	Cytokine activity	ISS	11306575
GO:0005515	Function	Protein binding	IPI	11741979, 22190034, 24312579, 25416956, 28514442, 32296183, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	ISS
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA	19289464
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006412	Process	Translation	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007267	Process	Cell-cell signaling	IDA	11741979
GO:0009986	Component	Cell surface	IDA	11741979
GO:0016020	Component	Membrane	HDA	19946888
GO:0017101	Component	Aminoacyl-tRNA synthetase multienzyme complex	IDA	10791971, 14500886, 19131329
GO:0042803	Function	Protein homodimerization activity	IDA	11306575
GO:0048514	Process	Blood vessel morphogenesis	IEA
GO:0050900	Process	Leukocyte migration	IDA	11306575
GO:0051020	Function	GTPase binding	IPI	24337748
GO:0051607	Process	Defense response to virus	IEA
GO:0070094	Process	Positive regulation of glucagon secretion	ISS

MIM	HGNC	e!Ensembl
603605	10648	ENSG00000164022

Protein

UniProt ID

Q12904

Protein name

Aminoacyl tRNA synthase complex-interacting multifunctional protein 1 (Multisynthase complex auxiliary component p43) [Cleaved into: Endothelial monocyte-activating polypeptide 2 (EMAP-2) (Endothelial monocyte-activating polypeptide II) (EMAP-II) (Small i

Protein function

Non-catalytic component of the multisynthase complex. Stimulates the catalytic activity of cytoplasmic arginyl-tRNA synthase (PubMed:10358004). Binds tRNA. Possesses inflammatory cytokine activity (PubMed:11306575). Negatively regulates TGF-beta

PDB

1E7Z , 1EUJ , 1FL0 , 4R3Z , 8J9S , 8ONG

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01588	tRNA_bind	157 → 250	Putative tRNA binding domain	Domain

Sequence

MANNDAVLKRLEQKGAEADQIIEYLKQQVSLLKEKAILQATLREEKKLRVENAKLKKEIE
ELKQELIQAEIQNGVKQIPFPSGTPLHANSMVSENVIQSTAVTTVSSGTKEQIKGGTGDE
KKAKEKIEKKGEKKEKKQQSIAGSADSKPIDVSRLDLRIGCIITARKHPDADSLYVEEVD
VGEIAPRTVVSGLVNHVPLEQMQNRMVILLCNLKPAKMRGVLSQAMVMCASSPEKIEILA
PPNGSVPGDRITFDAFPGEPDKELNPKKKIWEQIQPDLHTNDECVATYKGVPFEVKGKGV
CRAQTMSNSGIK

Sequence length

312

Interactions

View interactions

	Reactome
			Cytosolic tRNA aminoacylation

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Hypomyelinating Leukodystrophy	Hypomyelinating leukodystrophy 3	rs387906865, rs724159969, rs879253867, rs750731609	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Non-Syndromic Intellectual Disability	autosomal recessive non-syndromic intellectual disability	N/A	N/A	GenCC

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Altitude Sickness	Associate	32299499
Atherosclerosis	Associate	11292833
Autoimmune Diseases	Associate	24816397
Breast Neoplasms	Associate	10360668
Colorectal Neoplasms	Associate	16929248, 24395571
Glioblastoma	Inhibit	28436750
Glioma	Associate	28436750
Heredodegenerative Disorders Nervous System	Associate	26173967
Hydrocephalus	Associate	40603987
Hypoxia	Associate	16929248, 35068446
Inflammation	Stimulate	11106577
Inflammation	Associate	11292833, 27665382, 35068446, 35776197
Intellectual Disability	Associate	26173967
Leukoencephalopathies	Associate	21855841
Neoplasm Metastasis	Associate	24395571, 35068446, 35586989
Neoplasms	Inhibit	11106577, 19002109
Neoplasms	Associate	16929248, 24395571, 25724651
Seizures	Associate	31618474
Speech Disorders	Associate	26173967
Squamous Cell Carcinoma of Head and Neck	Stimulate	35068446
Uveal melanoma	Associate	12714608
Vascular System Injuries	Stimulate	12714608

AIMP1 (aminoacyl tRNA synthetase complex interacting multifunctional protein 1)