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 synth... See more...

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
  • Aminoacyl TRNA Synthase Complex-Interacting Multifunctional Protein 1 3 4
  • Multisynthase Complex Auxiliary Component P43 3 4
  • ARS-Interacting Multifunctional Protein 1 2 3
  • EMAPII 2 3
  • EMAP2 3 4
  • SCYE1 3 4
  • P43 2 3
  • Multisynthetase Complex Auxiliary Component P43 3
  • Endothelial-Monocyte Activating Polypeptide II 3
  • Endothelial Monocyte-Activating Polypeptide 2 3
  • EMAP II 2
  • EMAP-2 2
  • AIMP1 5
  • HLD3 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 Pelizaeus-Merzbacher-Like Disease. Among its related pathways are Viral mRNA Translation and tRNA Aminoacylation. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and tRNA binding.

UniProtKB/Swiss-Prot Summary for AIMP1 Gene

  • 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 signaling through stabilization of SMURF2 by binding to SMURF2 and inhibiting its SMAD7-mediated degradation (By similarity). Involved in glucose homeostasis through induction of glucagon secretion at low glucose levels (By similarity). Promotes dermal fibroblast proliferation and wound repair (PubMed:16472771). Regulates KDELR1-mediated retention of HSP90B1/gp96 in the endoplasmic reticulum (By similarity). Plays a role in angiogenesis by inducing endothelial cell migration at low concentrations and endothelian cell apoptosis at high concentrations (PubMed:12237313). Induces maturation of dendritic cells and monocyte cell adhesion (PubMed:11818442). Modulates endothelial cell responses by degrading HIF-1A through interaction with PSMA7 (PubMed:19362550).

Gene Wiki entry for AIMP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AIMP1 Gene

Genomics for AIMP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH04J106314 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +0.8 757 4.6 BCLAF1 ZNF207 MYC SIX5 ZNF580 ATF2 POLR2A CEBPA ATF3 ZIC2 TBCK AIMP1 HSALNG0036227 lnc-GIMD1-6 NPNT
GH04J106286 Enhancer 1.1 Ensembl ENCODE 10.9 -28.0 -27981 2.2 ZNF592 KLF9 CEBPA ATF3 YY1 MXD4 CEBPB FOXA1 KLF11 HOMEZ TBCK AIMP1 lnc-GIMD1-6 HSALNG0036224 INTS12
GH04J106260 Enhancer 0.9 Ensembl ENCODE 10.7 -52.5 -52484 5.3 CEBPA ATF3 NFIC HOMEZ FOXA2 RXRA SAP130 JUND FOSL2 CREM TBCK AIMP1 HSALNG0036224 lnc-GIMD1-6 INTS12
GH04J106343 Enhancer 0.9 Ensembl dbSUPER 11.3 +29.3 29256 1.2 CEBPA HOMEZ FOXA2 MAFF ZNF511 MIER3 ZNF316 CREM MAFK BCL6 TBCK AIMP1 GIMD1 lnc-TBCK-2 piR-48591-010
GH04J106258 Enhancer 0.8 Ensembl 10.7 -56.8 -56844 1 CEBPA FOXA1 HOMEZ THAP11 FOXA2 KDM6A ZNF511 SAP130 RARA TEAD3 HSALNG0036224 TBCK AIMP1 lnc-GIMD1-6 INTS12
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AIMP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AIMP1

Genomic Locations for AIMP1 Gene

Latest Assembly
chr4:106,315,544-106,349,456
(GRCh38/hg38)
Size:
33,913 bases
Orientation:
Plus strand

Previous Assembly
chr4:107,236,701-107,270,613
(GRCh37/hg19 by Entrez Gene)
Size:
33,913 bases
Orientation:
Plus strand

chr4:107,236,701-107,270,383
(GRCh37/hg19 by Ensembl)
Size:
33,683 bases
Orientation:
Plus strand

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 the multisynthetase complex (MSC), a multisubunit complex that groups tRNA ligases for Arg (RARS1), Asp (DARS1), Gln (QARS1), Ile (IARS1), Leu (LARS1), Lys (KARS1), Met (MARS1) the bifunctional ligase for Glu and Pro (EPRS1) and the auxiliary subunits AIMP1/p43, AIMP2/p38 and EEF1E1/p18 (PubMed:24312579, PubMed:19131329, PubMed:19289464). Interacts (via N-terminus) with RARS1 (via N-terminus) (PubMed:10358004, PubMed:17443684). Part of a complex composed of RARS1, QARS1 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). Interacts with TARS3 (PubMed:24312579).

    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 Lys9
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for AIMP1
  • Boster Bio Antibodies for AIMP1

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
  • Predicted secreted proteins

Protein Domains for AIMP1 Gene

Suggested Antigen Peptide Sequences for AIMP1 Gene

GenScript: Design optimal peptide antigens:
  • Multisynthase complex auxiliary component p43 (AIMP1_HUMAN)
  • cDNA FLJ52127, highly similar to Multisynthetase complex auxiliary component p43 (B4DNK3_HUMAN)
genes like me logo Genes that share domains with AIMP1: view

No data available for Graphical View of Domain Structure and 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 (PubMed:10358004). Binds tRNA. Possesses inflammatory cytokine activity (PubMed:11306575). Negatively regulates TGF-beta signaling through stabilization of SMURF2 by binding to SMURF2 and inhibiting its SMAD7-mediated degradation (By similarity). Involved in glucose homeostasis through induction of glucagon secretion at low glucose levels (By similarity). Promotes dermal fibroblast proliferation and wound repair (PubMed:16472771). Regulates KDELR1-mediated retention of HSP90B1/gp96 in the endoplasmic reticulum (By similarity). Plays a role in angiogenesis by inducing endothelial cell migration at low concentrations and endothelian cell apoptosis at high concentrations (PubMed:12237313). Induces maturation of dendritic cells and monocyte cell adhesion (PubMed:11818442). Modulates endothelial cell responses by degrading HIF-1A through interaction with PSMA7 (PubMed:19362550).

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
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 Models for research

  • Taconic Biosciences Mouse Models for AIMP1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AIMP1

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. 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). Secreted in response to hypoxia (PubMed:10850427). Also secreted in response to both apoptotic and necrotic cell death. {ECO:0000250 UniProtKB:P31230, ECO:0000269 PubMed:10850427}.

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
cytosol 5
extracellular 4
nucleus 4
endoplasmic reticulum 4
golgi apparatus 3
cytoskeleton 2
mitochondrion 2
plasma membrane 1
peroxisome 1
endosome 1
lysosome 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 ISS --
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:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation TAS --
GO:0006915 apoptotic process 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

mRNA/cDNA for AIMP1 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AIMP1

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

No ASD Table

Relevant External Links for AIMP1 Gene

GeneLoc Exon Structure for
AIMP1

Expression for AIMP1 Gene

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

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



Protein tissue co-expression partners for AIMP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AIMP1

SOURCE GeneReport for Unigene cluster for AIMP1 Gene:

Hs.591680

Evidence on tissue expression from TISSUES for AIMP1 Gene

  • Pancreas(4.5)
  • Liver(4.4)
  • Nervous system(3.9)
  • Heart(2.7)
  • Blood(2.4)
  • Lung(2.4)
  • Spleen(2.3)
  • Muscle(2.3)
  • Kidney(2.2)
  • Lymph node(2.2)
  • Intestine(2.1)

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

Primer products for research

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 29 30
  • 99.48 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AIMP1 29
  • 90.86 (n)
-- 30
  • 90 (a)
OneToMany
-- 30
  • 85 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia SCYE1 30
  • 89 (a)
OneToOne
AIMP1 29
  • 88.79 (n)
Rat
(Rattus norvegicus)
Mammalia Aimp1 29
  • 83.92 (n)
Mouse
(Mus musculus)
Mammalia Aimp1 29 16 30
  • 81.97 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia AIMP1 30
  • 76 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia AIMP1 30
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AIMP1 29 30
  • 78.55 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 83 (a)
OneToMany
-- 30
  • 82 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia aimp1 29
  • 71.4 (n)
African clawed frog
(Xenopus laevis)
Amphibia scye1-prov 29
Zebrafish
(Danio rerio)
Actinopterygii aimp1 29 30
  • 64.51 (n)
OneToMany
AIMP1 (1 of 2) 30
  • 40 (a)
OneToMany
wufa95a05 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG8235 29 30
  • 49.12 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARC1 30 32
  • 29 (a)
OneToOne
Barley
(Hordeum vulgare)
Liliopsida Hv.3244 29
Species where no ortholog for AIMP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for AIMP1: view image
Alliance of Genome Resources:
Additional Orthologs for AIMP1

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AIMP1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
1030837 Uncertain Significance: Hypomyelinating leukodystrophy 3 106,331,858(+) T/A
NM_001142416.2(AIMP1):c.578T>A (p.Leu193Gln)
MISSENSE
rs1057520101 Likely Pathogenic: not provided 106,328,209(+) CGAAAA/C
NM_001142416.2(AIMP1):c.362_366del (p.Lys121fs)
FRAMESHIFT
rs113844295 Benign/Likely Benign: not provided 106,328,162(+) A/Gp.Thr104Ala
NM_001142416.2(AIMP1):c.310A>G (p.Thr104Ala)
MISSENSE
rs1217603004 Uncertain Significance: not provided 106,331,674(+) GAGA/G
NM_001142416.2(AIMP1):c.397_399AAG[1] (p.Lys134del)
INFRAME_DELETION
rs1252799095 Uncertain Significance: not provided 106,316,550(+) G/C
NM_001142416.2(AIMP1):c.-70G>C
FIVE_PRIME_UTR_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AIMP1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
AIMP1

SNP Genotyping and Copy Number Assays for research

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

Disorders for AIMP1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for AIMP1 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search AIMP1 in MalaCards View complete list of genes associated with diseases

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 variants affecting the gene represented in this entry.

Additional Disease Information for AIMP1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with AIMP1: view

No data available for Genatlas for AIMP1 Gene

Publications for AIMP1 Gene

  1. Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation. (PMID: 21092922) Feinstein M … Birk OS (American journal of human genetics 2010) 3 4 72
  2. 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
  3. 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
  4. 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
  5. Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration. (PMID: 26173967) Iqbal Z … van Bokhoven H (European journal of human genetics : EJHG 2016) 3 72

Products for AIMP1 Gene

Sources for AIMP1 Gene