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 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:107,236,767-107,270,381)mRNA (may differ from genome)Protein (312 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMGIneXtProt
OMIMPubMedReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  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
  Genetic Association Database (archive): AIMP1
CDC HuGE Published Literature: AIMP1
Positive Disease Associations: Blood Pressure , Blood Pressure Determination , Body Mass Index , Iron , Parkinson Disease
Related Studies:
  1. Blood Pressure
    , , . [PubMed 0]
  2. Blood Pressure Determination
    , , . [PubMed 0]
  3. 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. [PubMed 17903300]
    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.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: AIMP1
Diseases sorted by gene-association score: leukodystrophy, hypomyelinating, 3* (1375), autosomal recessive non-syndromic intellectual disability* (75), leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (12), hypomyelinating leukodystrophy (9), pelizaeus-merzbacher-like disease (8), stromal keratitis (8), prostate adenocarcinoma (6), fibrosarcoma (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 28.00 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 781.92 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -10.1052-0.194 Picture PostScript Text
3' UTR -350.471532-0.229 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012340 - NA-bd_OB-fold
IPR016027 - NA-bd_OB-fold-like
IPR002547 - tRNA-bd_dom

Pfam Domains:
PF01588 - Putative tRNA binding domain

SCOP Domains:
50249 - Nucleic acid-binding proteins

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1E7Z
- X-ray MuPIT

1EUJ
- X-ray MuPIT

1FL0
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q12904
FrontTopSide
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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000049 tRNA binding
GO:0003723 RNA binding
GO:0005125 cytokine activity
GO:0005515 protein binding
GO:0042803 protein homodimerization activity
GO:0051020 GTPase binding

Biological Process:
GO:0001525 angiogenesis
GO:0001937 negative regulation of endothelial cell proliferation
GO:0006412 translation
GO:0006418 tRNA aminoacylation for protein translation
GO:0006915 apoptotic process
GO:0006935 chemotaxis
GO:0006954 inflammatory response
GO:0007155 cell adhesion
GO:0007165 signal transduction
GO:0007267 cell-cell signaling
GO:0009611 response to wounding
GO:0010469 regulation of receptor activity
GO:0048514 blood vessel morphogenesis
GO:0050900 leukocyte migration
GO:0051607 defense response to virus
GO:0070094 positive regulation of glucagon secretion

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0009986 cell surface
GO:0016020 membrane
GO:0017101 aminoacyl-tRNA synthetase multienzyme complex
GO:0017102 methionyl glutamyl tRNA synthetase complex


-  Descriptions from all associated GenBank mRNAs
  KJ892730 - Synthetic construct Homo sapiens clone ccsbBroadEn_02124 AIMP1 gene, encodes complete protein.
AK297950 - Homo sapiens cDNA FLJ52127 complete cds, highly similar to Multisynthetase complex auxiliary component p43.
AK095951 - Homo sapiens cDNA FLJ38632 fis, clone HHDPC2000656, highly similar to Multisynthetase complex auxiliary component p43.
AK303965 - Homo sapiens cDNA FLJ61202 complete cds, highly similar to Multisynthetase complex auxiliary component p43.
BC014051 - Homo sapiens small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating), mRNA (cDNA clone MGC:20063 IMAGE:3638796), complete cds.
U10117 - Human endothelial-monocyte activating polypeptide II mRNA, complete cds.
CR542281 - Homo sapiens full open reading frame cDNA clone RZPDo834E1026D for gene SCYE1, small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating); complete cds, without stopcodon.
DQ896737 - Synthetic construct Homo sapiens clone IMAGE:100011197; FLH199408.01L; RZPDo839E1081D small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating) (SCYE1) gene, encodes complete protein.
CU680760 - Synthetic construct Homo sapiens gateway clone IMAGE:100018838 5' read SCYE1 mRNA.
DQ893299 - Synthetic construct clone IMAGE:100005929; FLH199502.01X; RZPDo839E1082D small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating) (SCYE1) gene, encodes complete protein.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q12904 (Reactome details) participates in the following event(s):

R-HSA-380008 lysine + tRNA(Lys) + ATP => Lys-tRNA(Lys) + AMP + pyrophosphate
R-HSA-379974 leucine + tRNA(Leu) + ATP => Leu-tRNA(Leu) + AMP + pyrophosphate
R-HSA-379861 glutamate + tRNA(Glu) + ATP => Glu-tRNA(Glu) + AMP + pyrophosphate
R-HSA-379893 isoleucine + tRNA(Ile) + ATP => Ile-tRNA(Ile) + AMP + pyrophosphate
R-HSA-379865 proline + tRNA(Pro) + ATP => Pro-tRNA(Pro) + AMP + pyrophosphate
R-HSA-379994 methionine + tRNA(Met) + ATP => Met-tRNA(Met) + AMP + pyrophosphate
R-HSA-379867 aspartate + tRNA(Asp) + ATP => Asp-tRNA(Asp) + AMP + pyrophosphate
R-HSA-379982 glutamine + tRNA(Gln) + ATP => Gln-tRNA(Gln) + AMP + pyrophosphate
R-HSA-379993 arginine + tRNA(Arg) + ATP => Arg-tRNA(Arg) + AMP + pyrophosphate
R-HSA-2408546 tRNA(Met) is selenomethionylated to SeMet-tRNA(Met) by multisynthetase complex
R-HSA-379716 Cytosolic tRNA aminoacylation
R-HSA-2408517 SeMet incorporation into proteins
R-HSA-379724 tRNA Aminoacylation
R-HSA-2408522 Selenoamino acid metabolism
R-HSA-72766 Translation
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-392499 Metabolism of proteins
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: AIMP1_HUMAN, B3KTR2, B4E1S7, EMAP2, NM_001142415, NP_004748, Q12904, Q6FG28, Q96CQ9, SCYE1
UCSC ID: uc011cfg.2
RefSeq Accession: NM_001142415
Protein: Q12904 (aka AIMP1_HUMAN)
CCDS: CCDS3674.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001142415.1
exon count: 7CDS single in 3' UTR: no RNA size: 2537
ORF size: 939CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2078.00frame shift in genome: no % Coverage: 99.45
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.