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Aliases for AIMP1 Gene

Aliases for AIMP1 Gene

  • Aminoacyl TRNA Synthetase Complex Interacting Multifunctional Protein 1 2 3 5
  • Small Inducible Cytokine Subfamily E, Member 1 (Endothelial Monocyte-Activating) 2 3
  • Multisynthase Complex Auxiliary Component P43 3 4
  • ARS-Interacting Multifunctional Protein 1 2 3
  • SCYE1 3 4
  • EMAP2 3 4
  • Aminoacyl TRNA Synthase Complex-Interacting Multifunctional Protein 1 3
  • Multisynthetase Complex Auxiliary Component P43 3
  • Endothelial-Monocyte Activating Polypeptide II 3
  • Endothelial Monocyte-Activating Polypeptide 2 3
  • EMAP II 2
  • EMAPII 3
  • HLD3 3
  • P43 3

External Ids for AIMP1 Gene

Previous HGNC Symbols for AIMP1 Gene

  • SCYE1

Previous GeneCards Identifiers for AIMP1 Gene

  • GC04P107458
  • GC04P107236
  • GC04P102971

Summaries for AIMP1 Gene

Entrez Gene Summary for AIMP1 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 to tumor necrosis factor. The precursor protein is identical to the p43 subunit, which is associated with the multi-tRNA synthetase complex, and it modulates aminoacylation activity of tRNA synthetase in normal cells. This protein is also involved in the stimulation of inflammatory responses after proteolytic cleavage in tumor cells. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2008]

GeneCards Summary for AIMP1 Gene

AIMP1 (Aminoacyl TRNA Synthetase Complex Interacting Multifunctional Protein 1) is a Protein Coding gene. Diseases associated with AIMP1 include Leukodystrophy, Hypomyelinating, 3 and Autosomal Recessive Non-Syndromic Intellectual Disability. Among its related pathways are Gene Expression and tRNA Aminoacylation. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and tRNA binding.

UniProtKB/Swiss-Prot for AIMP1 Gene

  • Non-catalytic component of the multisynthase complex. Stimulates the catalytic activity of cytoplasmic arginyl-tRNA synthase. Binds tRNA. Possesses inflammatory cytokine activity. Negatively regulates TGF-beta signaling through stabilization of SMURF2 by binding to SMURF2 and inhibiting its SMAD7-mediated degradation. Involved in glucose homeostasis through induction of glucagon secretion at low glucose levels. Promotes dermal fibroblast proliferation and wound repair. Regulates KDELR1-mediated retention of HSP90B1/gp96 in the endoplasmic reticulum. Plays a role in angiogenesis by inducing endothelial cell migration at low concentrations and endothelian cell apoptosis at high concentrations. Induces maturation of dendritic cells and monocyte cell adhesion. Modulates endothelial cell responses by degrading HIF-1A through interaction with PSMA7.

Gene Wiki entry for AIMP1 Gene

Additional gene information for AIMP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AIMP1 Gene

Genomics for AIMP1 Gene

GeneHancer (GH) Regulatory Elements for AIMP1 Gene

Promoters and enhancers for AIMP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I106314 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.9 865 4 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 TBCK AIMP1 NPNT
GH04I105707 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 18.5 -606.3 -606302 4 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 GSTCD INTS12 LOC101929577 TBCK EEF1A1P9 AIMP1 LOC101929529 TET2 ARHGEF38
GH04I105894 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 18.5 -418.9 -418923 4.2 PKNOX1 FOXA2 FEZF1 ZNF48 TCF12 ZNF121 GLIS2 RUNX3 SP3 NFIL3 INTS12 NPNT AIMP1 ENSG00000250740
GH04I106286 Enhancer 1.1 Ensembl ENCODE 10.8 -28.0 -27981 2.2 FOXA2 MLX ARID4B DMAP1 ETS1 YY1 FOS SP5 ZHX2 MXD4 AIMP1 TBCK GC04M106256
GH04I106260 Enhancer 0.8 ENCODE 10.7 -52.5 -52484 5.3 FOXA2 NFIB ZFP64 ARID4B RAD21 CREM RXRA NFIC KLF16 RCOR2 TBCK AIMP1 GC04M106256 GC04M106235
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AIMP1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for AIMP1 Gene

Genomic Locations for AIMP1 Gene
chr4:106,315,544-106,349,226
(GRCh38/hg38)
Size:
33,683 bases
Orientation:
Plus strand
chr4:107,236,701-107,270,383
(GRCh37/hg19)

Genomic View for AIMP1 Gene

Genes around AIMP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AIMP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AIMP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AIMP1 Gene

Proteins for AIMP1 Gene

  • Protein details for AIMP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12904-AIMP1_HUMAN
    Recommended name:
    Aminoacyl tRNA synthase complex-interacting multifunctional protein 1
    Protein Accession:
    Q12904
    Secondary Accessions:
    • B3KTR2
    • B4E1S7
    • Q6FG28
    • Q96CQ9

    Protein attributes for AIMP1 Gene

    Size:
    312 amino acids
    Molecular mass:
    34353 Da
    Quaternary structure:
    • Homodimer. Part of a multisubunit complex that groups tRNA ligases for Arg (RARS), Asp (DARS), Gln (QARS), Ile (IARS), Leu (LARS), Lys (KARS), Met (MARS) the bifunctional ligase for Glu and Pro (EPRS) and the auxiliary subunits AIMP1/p43, AIMP2/p38 and EEF1E1/p18 (PubMed:19131329, PubMed:19289464). Interacts (via N-terminus) with RARS (via N-terminus) (PubMed:10358004, PubMed:17443684). Part of a complex composed of RARS, QARS and AIMP1 (PubMed:25288775). Interacts (via C-terminus) with SMURF2. Interacts (via N-terminus) with HSP90B1/gp96 (via C-terminus) (By similarity). Interacts with PSMA7 (PubMed:19362550).

    Three dimensional structures from OCA and Proteopedia for AIMP1 Gene

    Alternative splice isoforms for AIMP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AIMP1 Gene

Post-translational modifications for AIMP1 Gene

  • Cleaved by caspase-7 in response to apoptosis to produce EMAP-II.
  • Ubiquitination at Lys24
  • Modification sites at PhosphoSitePlus

Other Protein References for AIMP1 Gene

No data available for DME Specific Peptides for AIMP1 Gene

Domains & Families for AIMP1 Gene

Gene Families for AIMP1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for AIMP1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with AIMP1: view

No data available for UniProtKB/Swiss-Prot for AIMP1 Gene

Function for AIMP1 Gene

Molecular function for AIMP1 Gene

UniProtKB/Swiss-Prot Function:
Non-catalytic component of the multisynthase complex. Stimulates the catalytic activity of cytoplasmic arginyl-tRNA synthase. Binds tRNA. Possesses inflammatory cytokine activity. Negatively regulates TGF-beta signaling through stabilization of SMURF2 by binding to SMURF2 and inhibiting its SMAD7-mediated degradation. Involved in glucose homeostasis through induction of glucagon secretion at low glucose levels. Promotes dermal fibroblast proliferation and wound repair. Regulates KDELR1-mediated retention of HSP90B1/gp96 in the endoplasmic reticulum. Plays a role in angiogenesis by inducing endothelial cell migration at low concentrations and endothelian cell apoptosis at high concentrations. Induces maturation of dendritic cells and monocyte cell adhesion. Modulates endothelial cell responses by degrading HIF-1A through interaction with PSMA7.

Phenotypes From GWAS Catalog for AIMP1 Gene

Gene Ontology (GO) - Molecular Function for AIMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IDA 11306575
GO:0003723 RNA binding IEA --
GO:0005125 cytokine activity ISS 11306575
GO:0005515 protein binding IPI 11741979
GO:0042803 protein homodimerization activity IDA 11306575
genes like me logo Genes that share ontologies with AIMP1: view

Phenotypes for AIMP1 Gene

genes like me logo Genes that share phenotypes with AIMP1: view

Human Phenotype Ontology for AIMP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for AIMP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for AIMP1 Gene

Localization for AIMP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AIMP1 Gene

Nucleus. Cytoplasm, cytosol. Cytoplasmic vesicle, secretory vesicle. Secreted. Endoplasmic reticulum. Golgi apparatus. Note=Enriched in secretory vesicles of pancreatic alpha cells and secreted from the pancreas in response to low glucose levels (By similarity). Also secreted in response to hypoxia and both apoptotic and necrotic cell death. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AIMP1 gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 4
endoplasmic reticulum 4
golgi apparatus 3
cytoskeleton 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AIMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA,TAS --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with AIMP1: view

Pathways & Interactions for AIMP1 Gene

genes like me logo Genes that share pathways with AIMP1: view

SIGNOR curated interactions for AIMP1 Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for AIMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0001937 negative regulation of endothelial cell proliferation IDA 11741979
GO:0005975 carbohydrate metabolic process IEA --
GO:0006006 glucose metabolic process IEA --
GO:0006412 translation IEA --
genes like me logo Genes that share ontologies with AIMP1: view

Drugs & Compounds for AIMP1 Gene

(2) Drugs for AIMP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for AIMP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with AIMP1: view

Transcripts for AIMP1 Gene

Unigene Clusters for AIMP1 Gene

Aminoacyl tRNA synthetase complex-interacting multifunctional protein 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AIMP1 Gene

No ASD Table

Relevant External Links for AIMP1 Gene

GeneLoc Exon Structure for
AIMP1
ECgene alternative splicing isoforms for
AIMP1

Expression for AIMP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AIMP1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AIMP1 Gene



Protein tissue co-expression partners for AIMP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AIMP1 Gene:

AIMP1

SOURCE GeneReport for Unigene cluster for AIMP1 Gene:

Hs.591680

Evidence on tissue expression from TISSUES for AIMP1 Gene

  • Pancreas(4.4)
  • Liver(4.3)
  • Nervous system(3.8)
  • Heart(2.6)
  • Blood(2.3)
  • Lung(2.2)
  • Spleen(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AIMP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • skull
Thorax:
  • chest wall
  • esophagus
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • stomach
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with AIMP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for AIMP1 Gene

Orthologs for AIMP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AIMP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AIMP1 33 34
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia AIMP1 33
  • 90.86 (n)
-- 34
  • 90 (a)
OneToMany
-- 34
  • 85 (a)
OneToMany
cow
(Bos Taurus)
Mammalia SCYE1 34
  • 89 (a)
OneToOne
AIMP1 33
  • 88.79 (n)
rat
(Rattus norvegicus)
Mammalia Aimp1 33
  • 83.92 (n)
mouse
(Mus musculus)
Mammalia Aimp1 33 16 34
  • 81.97 (n)
oppossum
(Monodelphis domestica)
Mammalia AIMP1 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AIMP1 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves AIMP1 33 34
  • 78.55 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 83 (a)
OneToMany
-- 34
  • 82 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia aimp1 33
  • 71.4 (n)
African clawed frog
(Xenopus laevis)
Amphibia scye1-prov 33
zebrafish
(Danio rerio)
Actinopterygii aimp1 33 34
  • 64.51 (n)
AIMP1 (1 of 2) 34
  • 40 (a)
OneToMany
wufa95a05 33
fruit fly
(Drosophila melanogaster)
Insecta CG8235 33 34
  • 49.12 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARC1 34 36
  • 29 (a)
OneToOne
barley
(Hordeum vulgare)
Liliopsida Hv.3244 33
Species where no ortholog for AIMP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AIMP1 Gene

ENSEMBL:
Gene Tree for AIMP1 (if available)
TreeFam:
Gene Tree for AIMP1 (if available)

Paralogs for AIMP1 Gene

Pseudogenes.org Pseudogenes for AIMP1 Gene

genes like me logo Genes that share paralogs with AIMP1: view

No data available for Paralogs for AIMP1 Gene

Variants for AIMP1 Gene

Sequence variations from dbSNP and Humsavar for AIMP1 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs387906865 pathogenic, Leukodystrophy, hypomyelinating 3 106,328,143(+) ACA/A coding_sequence_variant, frameshift
rs724159969 pathogenic, Leukodystrophy, hypomyelinating 3 106,327,456(+) C/T coding_sequence_variant, stop_gained
rs879253867 pathogenic, Leukodystrophy, hypomyelinating 3 106,328,186(+) C/T coding_sequence_variant, stop_gained
rs1057520101 likely-pathogenic, not provided 106,328,210(+) GAAAAGAAA/GAAA coding_sequence_variant, frameshift
rs113844295 likely-benign, not provided 106,328,162(+) A/G coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for AIMP1 Gene

Variant ID Type Subtype PubMed ID
nsv476244 CNV novel sequence insertion 20440878
nsv830029 CNV gain 17160897

Variation tolerance for AIMP1 Gene

Residual Variation Intolerance Score: 45.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.42; 77.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AIMP1 Gene

Human Gene Mutation Database (HGMD)
AIMP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AIMP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AIMP1 Gene

Disorders for AIMP1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for AIMP1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

AIMP1_HUMAN
  • Leukodystrophy, hypomyelinating, 3 (HLD3) [MIM:260600]: A severe autosomal recessive hypomyelinating leukodystrophy characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system. {ECO:0000269 PubMed:21092922}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for AIMP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with AIMP1: view

No data available for Genatlas for AIMP1 Gene

Publications for AIMP1 Gene

  1. Endothelial monocyte activating polypeptide-II modulates endothelial cell responses by degrading hypoxia-inducible factor-1alpha through interaction with PSMA7, a component of the proteasome. (PMID: 19362550) Tandle AT … Libutti SK (Experimental cell research 2009) 3 4 22 58
  2. Proteasomes and RARS modulate AIMP1/EMAP II secretion in human cancer cell lines. (PMID: 17443684) Bottoni A … Uberti EC (Journal of cellular physiology 2007) 3 4 22 58
  3. Characterization of a novel tumor-derived cytokine. Endothelial-monocyte activating polypeptide II. (PMID: 7929199) Kao J … Greenberg S (The Journal of biological chemistry 1994) 2 3 4 58
  4. Structure of the ArgRS-GlnRS-AIMP1 complex and its implications for mammalian translation. (PMID: 25288775) Fu Y … Cho Y (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 4 58
  5. Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation. (PMID: 21092922) Feinstein M … Birk OS (American journal of human genetics 2010) 3 4 58

Products for AIMP1 Gene

Sources for AIMP1 Gene

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