AIMP1 (aminoacyl tRNA synthetase complex interacting multifunctional protein 1) - Rat Genome Database

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Gene: AIMP1 (aminoacyl tRNA synthetase complex interacting multifunctional protein 1) Homo sapiens
Analyze
Symbol: AIMP1
Name: aminoacyl tRNA synthetase complex interacting multifunctional protein 1
RGD ID: 1344147
HGNC Page HGNC
Description: Exhibits GTPase binding activity; protein homodimerization activity; and tRNA binding activity. Involved in cell-cell signaling; leukocyte migration; and negative regulation of endothelial cell proliferation. Localizes to aminoacyl-tRNA synthetase multienzyme complex; cell surface; and cytosol. Implicated in hypomyelinating leukodystrophy 3.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: aminoacyl tRNA synthase complex-interacting multifunctional protein 1; aminoacyl tRNA synthetase complex-interacting multifunctional protein 1; ARS-interacting multifunctional protein 1; EMAP2; EMAPII; endothelial monocyte-activating polypeptide 2; endothelial-monocyte activating polypeptide II; HLD3; multisynthase complex auxiliary component p43; multisynthetase complex auxiliary component p43; p43; SCYE1; small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AIMP1P1   AIMP1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl4106,315,544 - 106,349,456 (+)EnsemblGRCh38hg38GRCh38
GRCh384106,315,544 - 106,349,456 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh374107,236,701 - 107,270,613 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364107,457,124 - 107,489,021 (+)NCBINCBI36hg18NCBI36
Build 344107,595,278 - 107,627,176NCBI
Celera4104,536,003 - 104,569,617 (+)NCBI
Cytogenetic Map4q24NCBI
HuRef4102,971,448 - 103,005,063 (+)NCBIHuRef
CHM1_14107,213,718 - 107,247,313 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal facial shape  (IAGP)
Abnormal pyramidal sign  (IAGP)
Absent septum pellucidum  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Chorea  (IAGP)
Coarse facial features  (IAGP)
Corpus callosum atrophy  (IAGP)
Cortical dysplasia  (IAGP)
Death in infancy  (IAGP)
Delayed speech and language development  (IAGP)
Depressivity  (IAGP)
Diffuse cerebral sclerosis  (IAGP)
Dyskinesia  (IAGP)
Dystonia  (IAGP)
EEG abnormality  (IAGP)
Epileptic spasm  (IAGP)
Failure to thrive  (IAGP)
Focal-onset seizure  (IAGP)
Generalized hypotonia  (IAGP)
Generalized-onset seizure  (IAGP)
Global brain atrophy  (IAGP)
Global developmental delay  (IAGP)
Hyperactivity  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypsarrhythmia  (IAGP)
Impulsivity  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, severe  (IAGP)
Kyphoscoliosis  (IAGP)
Large basal ganglia  (IAGP)
Leukodystrophy  (IAGP)
Microcephaly  (IAGP)
Motor delay  (IAGP)
Multifocal epileptiform discharges  (IAGP)
Muscular hypotonia of the trunk  (IAGP)
Nasogastric tube feeding  (IAGP)
Nystagmus  (IAGP)
Polymicrogyria  (IAGP)
Poor speech  (IAGP)
Premature birth  (IAGP)
Progressive  (IAGP)
Progressive flexion contractures  (IAGP)
Projectile vomiting  (IAGP)
Seizure  (IAGP)
Severe global developmental delay  (IAGP)
Short attention span  (IAGP)
Sleep disturbance  (IAGP)
Spastic paraparesis  (IAGP)
Spasticity  (IAGP)
Stereotypy  (IAGP)
Sudanophilic leukodystrophy  (IAGP)
Visual impairment  (IAGP)
References

Additional References at PubMed
PMID:1400342   PMID:7545917   PMID:7929199   PMID:8052601   PMID:8078941   PMID:8188258   PMID:8449960   PMID:9278442   PMID:9368021   PMID:9405472   PMID:9878398   PMID:10358004  
PMID:10409428   PMID:10791971   PMID:10852899   PMID:11157763   PMID:11306575   PMID:11714285   PMID:11741979   PMID:12161535   PMID:12477932   PMID:12543078   PMID:12729910   PMID:12819782  
PMID:14500886   PMID:14588117   PMID:14688335   PMID:14702039   PMID:14982944   PMID:15489334   PMID:15857508   PMID:15935955   PMID:16055448   PMID:16196087   PMID:16344560   PMID:16615114  
PMID:16674941   PMID:17018011   PMID:17051333   PMID:17303557   PMID:17443684   PMID:18448069   PMID:18621627   PMID:18951814   PMID:19002109   PMID:19131329   PMID:19289464   PMID:19362550  
PMID:19460752   PMID:19565673   PMID:19573982   PMID:19917687   PMID:19946888   PMID:20332099   PMID:20413730   PMID:20429837   PMID:20510162   PMID:21047177   PMID:21081503   PMID:21092922  
PMID:21139048   PMID:21145461   PMID:21416500   PMID:21576822   PMID:21789020   PMID:21832049   PMID:21873635   PMID:21890473   PMID:21906983   PMID:22190034   PMID:22412987   PMID:22505724  
PMID:22767513   PMID:22863883   PMID:22939629   PMID:23000965   PMID:23082492   PMID:23398456   PMID:23672191   PMID:24312579   PMID:24337748   PMID:24395571   PMID:24619875   PMID:24816145  
PMID:24816397   PMID:25010285   PMID:25015289   PMID:25146391   PMID:25288775   PMID:25416956   PMID:25437307   PMID:25724651   PMID:25921289   PMID:26040042   PMID:26142824   PMID:26173967  
PMID:26186194   PMID:26325028   PMID:26344197   PMID:26472760   PMID:26496610   PMID:26618866   PMID:26638075   PMID:26831064   PMID:26890138   PMID:27025967   PMID:27089716   PMID:27173435  
PMID:27248496   PMID:27342126   PMID:27574027   PMID:27591049   PMID:27665382   PMID:27906773   PMID:28007894   PMID:28431233   PMID:28514442   PMID:28515276   PMID:28533407   PMID:28611215  
PMID:28685749   PMID:28712289   PMID:29128334   PMID:29229926   PMID:29298432   PMID:29478914   PMID:29507755   PMID:29537208   PMID:29568061   PMID:29845934   PMID:29955894   PMID:30425250  
PMID:30463901   PMID:30477741   PMID:30711629   PMID:30833792   PMID:30948266   PMID:31048545   PMID:31073040   PMID:31091453   PMID:31236412   PMID:31287215   PMID:31343991   PMID:31586073  
PMID:31792442   PMID:31796584   PMID:31950832   PMID:31980649   PMID:32129710   PMID:32296183   PMID:32786267  


Genomics

Comparative Map Data
AIMP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl4106,315,544 - 106,349,456 (+)EnsemblGRCh38hg38GRCh38
GRCh384106,315,544 - 106,349,456 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh374107,236,701 - 107,270,613 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364107,457,124 - 107,489,021 (+)NCBINCBI36hg18NCBI36
Build 344107,595,278 - 107,627,176NCBI
Celera4104,536,003 - 104,569,617 (+)NCBI
Cytogenetic Map4q24NCBI
HuRef4102,971,448 - 103,005,063 (+)NCBIHuRef
CHM1_14107,213,718 - 107,247,313 (+)NCBICHM1_1
Aimp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393132,366,259 - 132,390,151 (-)NCBIGRCm39mm39
GRCm39 Ensembl3132,366,242 - 132,390,131 (-)Ensembl
GRCm383132,660,498 - 132,684,390 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3132,660,481 - 132,684,370 (-)EnsemblGRCm38mm10GRCm38
MGSCv373132,323,462 - 132,346,843 (-)NCBIGRCm37mm9NCBIm37
MGSCv363132,597,809 - 132,621,136 (-)NCBImm8
Celera3139,089,155 - 139,112,528 (-)NCBICelera
Cytogenetic Map3G3NCBI
Aimp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22221,151,907 - 221,175,458 (-)NCBI
Rnor_6.0 Ensembl2237,727,764 - 237,751,378 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02237,727,782 - 237,751,327 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02256,268,301 - 256,291,846 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42230,142,679 - 230,166,226 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12230,137,339 - 230,140,141 (-)NCBI
Celera2213,387,972 - 213,411,498 (-)NCBICelera
Cytogenetic Map2q43NCBI
Aimp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554963,072,341 - 3,108,672 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554963,073,480 - 3,108,012 (-)NCBIChiLan1.0ChiLan1.0
AIMP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.14109,403,236 - 109,436,566 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4109,404,352 - 109,436,566 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0498,796,320 - 98,830,095 (+)NCBIMhudiblu_PPA_v0panPan3
AIMP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13227,062,812 - 27,102,654 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3227,062,950 - 27,101,977 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3214,924,177 - 14,964,013 (-)NCBI
ROS_Cfam_1.03227,294,550 - 27,334,400 (+)NCBI
UMICH_Zoey_3.13227,288,505 - 27,328,329 (+)NCBI
UNSW_CanFamBas_1.03227,034,148 - 27,073,927 (+)NCBI
UU_Cfam_GSD_1.03212,786,600 - 12,826,428 (-)NCBI
Aimp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530114,082,808 - 14,119,926 (-)NCBI
SpeTri2.0NW_004936814800,085 - 837,140 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AIMP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8115,329,107 - 115,476,704 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18115,437,453 - 115,476,735 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28123,840,344 - 123,893,742 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AIMP1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1754,308,865 - 54,340,947 (+)NCBI
Aimp1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248302,624,071 - 2,649,265 (-)NCBI

Position Markers
RH93669  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374107,241,548 - 107,241,728UniSTSGRCh37
Build 364107,460,997 - 107,461,177RGDNCBI36
Celera4104,540,784 - 104,540,964RGD
Cytogenetic Map4q24UniSTS
HuRef4102,976,229 - 102,976,409UniSTS
GeneMap99-GB4 RH Map4505.33UniSTS
RH103971  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374107,236,638 - 107,236,823UniSTSGRCh37
Build 364107,456,087 - 107,456,272RGDNCBI36
Celera4104,535,874 - 104,536,059RGD
Cytogenetic Map4q24UniSTS
HuRef4102,971,319 - 102,971,504UniSTS
GeneMap99-GB4 RH Map4503.61UniSTS
SHGC-132391  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374107,269,349 - 107,269,542UniSTSGRCh37
Build 364107,488,798 - 107,488,991RGDNCBI36
Celera4104,568,584 - 104,568,777RGD
Cytogenetic Map4q24UniSTS
HuRef4103,004,030 - 103,004,223UniSTS
TNG Radiation Hybrid Map465341.0UniSTS
SCYE1_2292  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374107,268,988 - 107,269,722UniSTSGRCh37
Build 364107,488,437 - 107,489,171RGDNCBI36
Celera4104,568,223 - 104,568,957RGD
HuRef4103,003,669 - 103,004,403UniSTS
SHGC-59700  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374107,269,395 - 107,269,560UniSTSGRCh37
Build 364107,488,844 - 107,489,009RGDNCBI36
Celera4104,568,630 - 104,568,795RGD
Cytogenetic Map4q24UniSTS
HuRef4103,004,076 - 103,004,241UniSTS
GeneMap99-GB4 RH Map4503.61UniSTS
NCBI RH Map41175.8UniSTS
G35299  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374107,269,972 - 107,270,220UniSTSGRCh37
Build 364107,489,421 - 107,489,669RGDNCBI36
Celera4104,569,207 - 104,569,455RGD
Cytogenetic Map4q24UniSTS
HuRef4103,004,653 - 103,004,901UniSTS
SHGC-24759  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374107,269,517 - 107,269,621UniSTSGRCh37
Build 364107,488,966 - 107,489,070RGDNCBI36
Celera4104,568,752 - 104,568,856RGD
Cytogenetic Map4q24UniSTS
HuRef4103,004,198 - 103,004,302UniSTS
GeneMap99-GB4 RH Map4506.85UniSTS
Whitehead-RH Map4558.7UniSTS
NCBI RH Map41175.8UniSTS
GeneMap99-G3 RH Map46135.0UniSTS
SHGC-57456  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374107,236,775 - 107,236,866UniSTSGRCh37
Build 364107,456,224 - 107,456,315RGDNCBI36
Celera4104,536,011 - 104,536,102RGD
Cytogenetic Map4q24UniSTS
HuRef4102,971,456 - 102,971,547UniSTS
TNG Radiation Hybrid Map465250.0UniSTS
SHGC-67688  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374107,268,765 - 107,268,845UniSTSGRCh37
Build 364107,488,214 - 107,488,294RGDNCBI36
Celera4104,568,000 - 104,568,080RGD
Cytogenetic Map4q24UniSTS
HuRef4103,003,446 - 103,003,526UniSTS
GeneMap99-GB4 RH Map4503.61UniSTS
NCBI RH Map41175.8UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1777
Count of miRNA genes:464
Interacting mature miRNAs:512
Transcripts:ENST00000358008, ENST00000394701, ENST00000442366, ENST00000510207
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 2427 2129 1661 565 1275 407 4352 2047 3282 402 1447 1606 171 1203 2787 4
Low 5 854 62 57 672 57 3 146 427 16 2 2 1 1 1 1
Below cutoff 1 2 2 1 1 1 15 1 5 2 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC093680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY527272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG941396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI258927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM314663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ447202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA211424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC358150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U10117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000358008   ⟹   ENSP00000350699
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4106,315,696 - 106,348,491 (+)Ensembl
RefSeq Acc Id: ENST00000394701   ⟹   ENSP00000378191
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4106,316,507 - 106,349,220 (+)Ensembl
RefSeq Acc Id: ENST00000442366   ⟹   ENSP00000405248
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4106,315,610 - 106,349,220 (+)Ensembl
RefSeq Acc Id: ENST00000510207   ⟹   ENSP00000423681
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4106,315,544 - 106,331,730 (+)Ensembl
RefSeq Acc Id: ENST00000671868   ⟹   ENSP00000499850
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4106,316,552 - 106,348,374 (+)Ensembl
RefSeq Acc Id: ENST00000671960   ⟹   ENSP00000500025
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4106,318,379 - 106,349,142 (+)Ensembl
RefSeq Acc Id: ENST00000672003   ⟹   ENSP00000500187
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4106,316,552 - 106,348,382 (+)Ensembl
RefSeq Acc Id: ENST00000672285   ⟹   ENSP00000500668
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4106,316,580 - 106,348,379 (+)Ensembl
RefSeq Acc Id: ENST00000672328   ⟹   ENSP00000500159
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4106,316,578 - 106,347,756 (+)Ensembl
RefSeq Acc Id: ENST00000672337   ⟹   ENSP00000499921
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4106,316,550 - 106,347,704 (+)Ensembl
RefSeq Acc Id: ENST00000672341   ⟹   ENSP00000500620
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4106,316,550 - 106,349,456 (+)Ensembl
RefSeq Acc Id: ENST00000672911   ⟹   ENSP00000500170
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4106,316,578 - 106,348,077 (+)Ensembl
RefSeq Acc Id: ENST00000673018   ⟹   ENSP00000500732
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4106,320,477 - 106,347,711 (+)Ensembl
RefSeq Acc Id: ENST00000673123   ⟹   ENSP00000500794
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4106,316,555 - 106,349,183 (+)Ensembl
RefSeq Acc Id: ENST00000673381
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4106,320,282 - 106,328,200 (+)Ensembl
RefSeq Acc Id: NM_001142415   ⟹   NP_001135887
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384106,315,544 - 106,349,456 (+)NCBI
GRCh374107,236,767 - 107,270,382 (+)ENTREZGENE
HuRef4102,971,448 - 103,005,063 (+)ENTREZGENE
CHM1_14107,213,718 - 107,247,313 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001142416   ⟹   NP_001135888
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384106,316,550 - 106,349,456 (+)NCBI
GRCh374107,236,767 - 107,270,382 (+)ENTREZGENE
HuRef4102,971,448 - 103,005,063 (+)ENTREZGENE
CHM1_14107,214,615 - 107,247,313 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004757   ⟹   NP_004748
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384106,315,935 - 106,349,456 (+)NCBI
GRCh374107,236,767 - 107,270,382 (+)ENTREZGENE
Build 364107,457,124 - 107,489,021 (+)NCBI Archive
HuRef4102,971,448 - 103,005,063 (+)ENTREZGENE
CHM1_14107,213,804 - 107,247,313 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008835   ⟹   XP_016864324
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384106,318,810 - 106,348,492 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008836   ⟹   XP_016864325
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384106,318,810 - 106,348,492 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001135887   ⟸   NM_001142415
- Peptide Label: isoform a precursor
- UniProtKB: Q12904 (UniProtKB/Swiss-Prot),   B4DNK3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004748   ⟸   NM_004757
- Peptide Label: isoform a precursor
- UniProtKB: Q12904 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135888   ⟸   NM_001142416
- Peptide Label: isoform b precursor
- Sequence:
RefSeq Acc Id: XP_016864324   ⟸   XM_017008835
- Peptide Label: isoform X1
- UniProtKB: Q12904 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016864325   ⟸   XM_017008836
- Peptide Label: isoform X1
- UniProtKB: Q12904 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000500794   ⟸   ENST00000673123
RefSeq Acc Id: ENSP00000500732   ⟸   ENST00000673018
RefSeq Acc Id: ENSP00000405248   ⟸   ENST00000442366
RefSeq Acc Id: ENSP00000423681   ⟸   ENST00000510207
RefSeq Acc Id: ENSP00000378191   ⟸   ENST00000394701
RefSeq Acc Id: ENSP00000500025   ⟸   ENST00000671960
RefSeq Acc Id: ENSP00000499850   ⟸   ENST00000671868
RefSeq Acc Id: ENSP00000500159   ⟸   ENST00000672328
RefSeq Acc Id: ENSP00000499921   ⟸   ENST00000672337
RefSeq Acc Id: ENSP00000500620   ⟸   ENST00000672341
RefSeq Acc Id: ENSP00000500668   ⟸   ENST00000672285
RefSeq Acc Id: ENSP00000500187   ⟸   ENST00000672003
RefSeq Acc Id: ENSP00000350699   ⟸   ENST00000358008
RefSeq Acc Id: ENSP00000500170   ⟸   ENST00000672911
Protein Domains
tRNA-binding

Promoters
RGD ID:6868208
Promoter ID:EPDNEW_H7269
Type:initiation region
Name:AIMP1_2
Description:aminoacyl tRNA synthetase complex interacting multifunctionalprotein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7271  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384106,315,572 - 106,315,632EPDNEW
RGD ID:6868212
Promoter ID:EPDNEW_H7271
Type:initiation region
Name:AIMP1_1
Description:aminoacyl tRNA synthetase complex interacting multifunctionalprotein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7269  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384106,316,550 - 106,316,610EPDNEW
RGD ID:6802033
Promoter ID:HG_KWN:48862
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:ENST00000394701,   NM_001142415,   NM_004757
Position:
Human AssemblyChrPosition (strand)Source
Build 364107,455,796 - 107,456,757 (+)MPROMDB
RGD ID:6851390
Promoter ID:EP73495
Type:initiation region
Name:HS_SCYE1
Description:Small inducible cytokine subfamily E, member 1 (endothelialmonocyte-activating).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 364107,457,123 - 107,457,183EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001142416.2(AIMP1):c.292_293del (p.Gln98fs) deletion Hypomyelinating leukodystrophy 3 [RCV000023320] Chr4:106328143..106328144 [GRCh38]
Chr4:107249300..107249301 [GRCh37]
Chr4:4q24
pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3
pathogenic
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 copy number gain See cases [RCV000051776] Chr4:96092893..136410207 [GRCh38]
Chr4:97014044..137331362 [GRCh37]
Chr4:97233067..137550812 [NCBI36]
Chr4:4q22.3-28.3
pathogenic
GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3 copy number gain See cases [RCV000051777] Chr4:105778347..110206873 [GRCh38]
Chr4:106699504..111128029 [GRCh37]
Chr4:106918953..111347478 [NCBI36]
Chr4:4q24-25
pathogenic
NM_001142416.2(AIMP1):c.310A>G (p.Thr104Ala) single nucleotide variant not provided [RCV000513934] Chr4:106328162 [GRCh38]
Chr4:107249319 [GRCh37]
Chr4:4q24
benign|likely benign
NM_001142416.2(AIMP1):c.115C>T (p.Gln39Ter) single nucleotide variant Hypomyelinating leukodystrophy 3 [RCV000149770] Chr4:106327456 [GRCh38]
Chr4:107248613 [GRCh37]
Chr4:4q24
pathogenic
NM_001142416.2(AIMP1):c.334C>T (p.Gln112Ter) single nucleotide variant Hypomyelinating leukodystrophy 3 [RCV000235084]|not provided [RCV001170057] Chr4:106328186 [GRCh38]
Chr4:107249343 [GRCh37]
Chr4:4q24
pathogenic
NM_001142416.2(AIMP1):c.397_399AAG[1] (p.Lys134del) microsatellite not provided [RCV000599524] Chr4:106331675..106331677 [GRCh38]
Chr4:107252832..107252834 [GRCh37]
Chr4:4q24
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_001142416.2(AIMP1):c.362_366del (p.Lys121fs) deletion not provided [RCV000424729] Chr4:106328210..106328214 [GRCh38]
Chr4:107249367..107249371 [GRCh37]
Chr4:4q24
likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q24-25(chr4:106582279-108557118)x1 copy number loss not provided [RCV000682442] Chr4:106582279..108557118 [GRCh37]
Chr4:4q24-25
uncertain significance
NM_001142416.2(AIMP1):c.162del (p.Lys54fs) deletion Hypomyelinating leukodystrophy 3 [RCV000721921] Chr4:106327501 [GRCh38]
Chr4:107248658 [GRCh37]
Chr4:4q24
pathogenic
NM_001142416.2(AIMP1):c.904A>G (p.Arg302Gly) single nucleotide variant Hypomyelinating leukodystrophy 3 [RCV000709957] Chr4:106347657 [GRCh38]
Chr4:107268814 [GRCh37]
Chr4:4q24
not provided
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q24-25(chr4:105039193-110409978)x3 copy number gain not provided [RCV000743885] Chr4:105039193..110409978 [GRCh37]
Chr4:4q24-25
pathogenic
GRCh37/hg19 4q24(chr4:107016742-107268949)x3 copy number gain not provided [RCV000743890] Chr4:107016742..107268949 [GRCh37]
Chr4:4q24
benign
GRCh37/hg19 4q24(chr4:107022702-107269053)x3 copy number gain not provided [RCV000743896] Chr4:107022702..107269053 [GRCh37]
Chr4:4q24
benign
GRCh37/hg19 4q24(chr4:107022702-107272484)x3 copy number gain not provided [RCV000743897] Chr4:107022702..107272484 [GRCh37]
Chr4:4q24
benign
GRCh37/hg19 4q24(chr4:107065220-107237395)x3 copy number gain not provided [RCV000743898] Chr4:107065220..107237395 [GRCh37]
Chr4:4q24
benign
GRCh37/hg19 4q24(chr4:107065220-107269053)x3 copy number gain not provided [RCV000743899] Chr4:107065220..107269053 [GRCh37]
Chr4:4q24
benign
GRCh37/hg19 4q24(chr4:107065220-107301047)x3 copy number gain not provided [RCV000743900] Chr4:107065220..107301047 [GRCh37]
Chr4:4q24
benign
GRCh37/hg19 4q24(chr4:107127490-107251400)x3 copy number gain not provided [RCV000743901] Chr4:107127490..107251400 [GRCh37]
Chr4:4q24
benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_001142416.2(AIMP1):c.543C>T (p.Val181=) single nucleotide variant not provided [RCV000904153] Chr4:106331823 [GRCh38]
Chr4:107252980 [GRCh37]
Chr4:4q24
likely benign
NM_001142416.2(AIMP1):c.363G>C (p.Lys121Asn) single nucleotide variant not provided [RCV000914196] Chr4:106328215 [GRCh38]
Chr4:107249372 [GRCh37]
Chr4:4q24
likely benign
GRCh37/hg19 4q24(chr4:107253424-107448046)x1 copy number loss not provided [RCV000847071] Chr4:107253424..107448046 [GRCh37]
Chr4:4q24
uncertain significance
NM_001142416.2(AIMP1):c.592C>T (p.Pro198Ser) single nucleotide variant not provided [RCV000914284] Chr4:106331872 [GRCh38]
Chr4:107253029 [GRCh37]
Chr4:4q24
likely benign
NM_001142416.2(AIMP1):c.357C>T (p.Asp119=) single nucleotide variant not provided [RCV000907693] Chr4:106328209 [GRCh38]
Chr4:107249366 [GRCh37]
Chr4:4q24
benign
NM_001142416.2(AIMP1):c.309A>C (p.Thr103=) single nucleotide variant not provided [RCV000950399] Chr4:106328161 [GRCh38]
Chr4:107249318 [GRCh37]
Chr4:4q24
benign
NM_001142416.2(AIMP1):c.-70G>C single nucleotide variant not provided [RCV000998256] Chr4:106316550 [GRCh38]
Chr4:107237707 [GRCh37]
Chr4:4q24
uncertain significance
NM_001142416.2(AIMP1):c.349A>G (p.Thr117Ala) single nucleotide variant not provided [RCV000956244] Chr4:106328201 [GRCh38]
Chr4:107249358 [GRCh37]
Chr4:4q24
benign
NM_001142416.2(AIMP1):c.578T>A (p.Leu193Gln) single nucleotide variant Hypomyelinating leukodystrophy 3 [RCV001332510] Chr4:106331858 [GRCh38]
Chr4:107253015 [GRCh37]
Chr4:4q24
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10648 AgrOrtholog
COSMIC AIMP1 COSMIC
Ensembl Genes ENSG00000164022 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000350699 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000378191 UniProtKB/Swiss-Prot
  ENSP00000405248 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000423681 UniProtKB/TrEMBL
  ENSP00000499850 UniProtKB/Swiss-Prot
  ENSP00000499921 UniProtKB/Swiss-Prot
  ENSP00000500025 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000500159 UniProtKB/Swiss-Prot
  ENSP00000500170 UniProtKB/Swiss-Prot
  ENSP00000500187 UniProtKB/TrEMBL
  ENSP00000500620 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000500668 UniProtKB/Swiss-Prot
  ENSP00000500732 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000500794 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000358008 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000394701 UniProtKB/Swiss-Prot
  ENST00000442366 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000510207 UniProtKB/TrEMBL
  ENST00000671868 UniProtKB/Swiss-Prot
  ENST00000671960 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000672003 UniProtKB/TrEMBL
  ENST00000672285 UniProtKB/Swiss-Prot
  ENST00000672328 UniProtKB/Swiss-Prot
  ENST00000672337 UniProtKB/Swiss-Prot
  ENST00000672341 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000672911 UniProtKB/Swiss-Prot
  ENST00000673018 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000673123 UniProtKB/Swiss-Prot
GTEx ENSG00000164022 GTEx
HGNC ID HGNC:10648 ENTREZGENE
Human Proteome Map AIMP1 Human Proteome Map
InterPro NA-bd_OB-fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  tRNA-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9255 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9255 ENTREZGENE
OMIM 260600 OMIM
  603605 OMIM
Pfam tRNA_bind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35578 PharmGKB
PROSITE TRBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50249 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A5F9ZHC5_HUMAN UniProtKB/TrEMBL
  AIMP1_HUMAN UniProtKB/Swiss-Prot
  B4DNK3 ENTREZGENE, UniProtKB/TrEMBL
  D6R937_HUMAN UniProtKB/TrEMBL
  Q12904 ENTREZGENE
UniProt Secondary B3KTR2 UniProtKB/Swiss-Prot
  B4E1S7 UniProtKB/Swiss-Prot
  Q6FG28 UniProtKB/Swiss-Prot
  Q96CQ9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-17 AIMP1  aminoacyl tRNA synthetase complex interacting multifunctional protein 1    aminoacyl tRNA synthetase complex-interacting multifunctional protein 1  Symbol and/or name change 5135510 APPROVED
2011-08-16 AIMP1  aminoacyl tRNA synthetase complex-interacting multifunctional protein 1  AIMP1  aminoacyl tRNA synthetase complex-interacting multifunctional protein 1  Symbol and/or name change 5135510 APPROVED