Human Gene AIMP1 (uc011cfg.2) Description and Page Index
Description: Homo sapiens aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 (AIMP1), transcript variant 2, mRNA. RefSeq Summary (NM_001142415): 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]. Transcript (Including UTRs) Position: hg19 chr4:107,236,767-107,270,381 Size: 33,615 Total Exon Count: 7 Strand: + Coding Region Position: hg19 chr4:107,246,167-107,268,849 Size: 22,683 Coding Exon Count: 6
ID:AIMP1_HUMAN DESCRIPTION: RecName: Full=Aminoacyl tRNA synthase complex-interacting multifunctional protein 1; AltName: Full=Multisynthase complex auxiliary component p43; Contains: RecName: Full=Endothelial monocyte-activating polypeptide 2; Short=EMAP-2; AltName: Full=Endothelial monocyte-activating polypeptide II; Short=EMAP-II; AltName: Full=Small inducible cytokine subfamily E member 1; 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. SUBUNIT: Homodimer. Component of the multisynthase complex which is comprised of a bifunctional glutamyl-prolyl-tRNA synthase, the monospecific isoleucyl, leucyl, glutaminyl, methionyl, lysyl, arginyl and aspartyl-tRNA synthases, and three auxiliary proteins, EEF1E1/p18, AIMP2/p38 and AIMP1/p43. Interacts (via N-terminus) with RARS (via N-terminus). Interacts (via C-terminus) with SMURF2. Interacts (via N-terminus) with HSP90B1/gp96 (via C- terminus). Interacts with PSMA7. INTERACTION: P04591:gag (xeno); NbExp=3; IntAct=EBI-1045802, EBI-6179719; SUBCELLULAR LOCATION: Nucleus. Cytoplasm, cytosol. Cytoplasmic vesicle, secretory vesicle (By similarity). Secreted (By similarity). Endoplasmic reticulum (By similarity). Golgi apparatus (By similarity). 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. PTM: Cleaved by caspase-7 in response to apoptosis to produce EMAP-II. DISEASE: Defects in AIMP1 are the cause of leukodystrophy hypomyelinating type 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. SIMILARITY: Contains 1 tRNA-binding domain.
Genetic Association Studies of Complex Diseases and Disorders
Body Mass Index Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics.
Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q12904
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.