Human Gene AIMP1 (ENST00000672341.1_5) from GENCODE V47lift37
  Description: aminoacyl tRNA synthetase complex interacting multifunctional protein 1, transcript variant 3 (from RefSeq NM_001142416.2)
Gencode Transcript: ENST00000672341.1_5
Gencode Gene: ENSG00000164022.18_17
Transcript (Including UTRs)
   Position: hg19 chr4:107,237,707-107,270,613 Size: 32,907 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 CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:107,237,707-107,270,613)mRNA (may differ from genome)Protein (312 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  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.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  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
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -16.0070-0.229 Picture PostScript Text
3' UTR -381.501764-0.216 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:
47661 - t-snare proteins
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
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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 DetailsGene Details    
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-  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.
AY527272 - Homo sapiens p43/endothelial monocyte-activating polypeptide II mRNA, 5' UTR.
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_001142416, Q12904, Q6FG28, Q96CQ9, SCYE1, uc329wnp.1, uc329wnp.2
UCSC ID: ENST00000672341.1_5
RefSeq Accession: NM_001142416.2
Protein: Q12904 (aka AIMP1_HUMAN)

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