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Relevance to Autism

Knockout of the JAKMIP1 gene in mice resulted in reduced translation of PSD proteins, disrupted glutamatergic signaling, and autistic-like behaviors such as social deficits, stereotyped activity, and abnormal postnatal vocalizations (Berg et al., 2015). JAKMIP1 had previously been shown to be differentially expressed in lymphoblastoid cells from autistic males as well as in Fmr1 knockout-mice (Nishimura et al., 2007).

Molecular Function

The protein encoded by the JAKMIP1 gene associates with microtubules and may play a role in the microtubule-dependent transport of the GABA-B receptor. It also may play a role in JAK1 signaling and regulate microtubule cytoskeleton rearrangements.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
JAKMIP1, a Novel Regulator of Neuronal Translation, Modulates Synaptic Function and Autistic-like Behaviors in Mouse.
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Exome Pool-Seq in neurodevelopmental disorders.
ASD, ID, epilepsy/seizures
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Support
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.
DD, ID, epilepsy/seizures
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN790R001 
 stop_gained 
 c.1441C>T 
 p.Arg481Ter 
 De novo 
  
 Simplex 
 GEN790R002 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN790R003 
 missense_variant 
 c.1756G>C 
 p.Asp586His 
 De novo 
  
  
 GEN790R004 
 missense_variant 
 c.1399A>C 
 p.Thr467Pro 
 De novo 
  
 Simplex 
 GEN790R005 
 splice_site_variant 
 c.1925A>G 
 p.Glu642Gly 
 Unknown 
  
  
 GEN790R006 
 missense_variant 
 c.610G>A 
 p.Asp204Asn 
 Unknown 
  
  
 GEN790R007 
 missense_variant 
 c.1478G>A 
 p.Arg493Gln 
 De novo 
  
 Simplex 
 GEN790R008 
 missense_variant 
 c.829G>A 
 p.Val277Ile 
 De novo 
  
  
 GEN790R009 
 missense_variant 
 c.53C>T 
 p.Ala18Val 
 De novo 
  
  
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
4
Deletion-Duplication
 26
 
4
Deletion
 3
 
4
Duplication
 1
 
4
Duplication
 2
 
4
Deletion-Duplication
 2
 
4
Duplication
 2
 
4
Deletion
 3
 
4
Deletion
 1
 
4
Duplication
 16
 
4
Deletion
 1
 

Model Summary

JAKMIP1 is an RNA binding protein.

References

Type
Title
Author, Year
Additional
JAKMIP1, a Novel Regulator of Neuronal Translation, Modulates Synaptic Function and Autistic-like Behaviors in Mouse.
Model Type: Genetic
Model Genotype: Homozygous
Mutation: Chimeras were produced from Velocigene embryonic stem cells in which Jakmip1 coding exons 28 were replaced with a LacZ-Neo cassette by homologous recombination.
Allele Type: Targeted(Knock-Out)
Strain of Origin: C57BL/6
Genetic Background: C57BL/6
ES Cell Line: Velocigene embryonic stem cells in which Jakmip1 coding exons 28 were replaced with a LacZ-Neo cassette
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity1
Decreased
 Wire hang test
 2-4 months
Self grooming: home cage/familiar environment1
Increased
 Grooming behavior assessments
 2-6 months
General locomotor activity1
Decreased
 Accelerating rotarod test
 2-4 months
Morphology of the basal ganglia: striatum: caudoputamen1
Decreased
 Magnetic resonance imaging (mri)
 2, 10 months
Brain anatomy1
Abnormal
 Magnetic resonance imaging (mri)
 2, 10 months
Cortical thickness1
Decreased
 Magnetic resonance imaging (mri)
 2, 10 months
Cerebellar morphology1
Decreased
 Magnetic resonance imaging (mri)
 2, 10 months
Neocortex morphology: size1
Decreased
 Magnetic resonance imaging (mri)
 2, 10 months
Brain size1
Decreased
 Magnetic resonance imaging (mri)
 2, 10 months
Synaptic neuroreceptor ratio (nmdar/ampar) dependent transmission1
Decreased
 Whole-cell patch clamp
 P11-p16
Decay kinetics of evoked post synaptic currents1
Increased
 Whole-cell patch clamp
 P11-p16
Synaptic transmission: excitatory1
Decreased
 Whole-cell patch clamp
 P11-p15
Synaptic transmission: excitatory1
Decreased
 Whole-cell patch clamp
 P11-p15
Repetitive digging1
Decreased
 Marble-burying test
 1.9-6 months
Perseveration1
Increased
 T-maze test
 2-4 months
Vertical jumping or back flipping1
Increased
 Grooming behavior assessments
 2-6 months
Social interaction1
Decreased
 Three-chamber social approach test
 1.5-4 months
Social interaction1
Decreased
 Open field test
 1.5-4 months
Huddling behavior1
Decreased
 Home cage behavior
 P14-p16
Ultrasonic vocalization: isolation induced1
Increased
 Monitoring ultrasonic vocalizations
 P6, p9, p12
Anxiety1
Decreased
 Light-dark exploration test
 1.4-4 months
Cued or contextual fear conditioning: memory of cue1
Decreased
 Fear conditioning test
 9-11 months
Protein expression level evidence1
Decreased
 Western blot
 P8-p14, adult
Regulation of translation1
Decreased
 Western blot
 P8-p14
Protein binding1
Decreased
 Co-immunoprecipitation
 P8-p14
Protein expression level evidence1
Decreased
 Western blot
 P8-p14
Gene expression1
Decreased
 Quantitative pcr (qrt-pcr)
 P8-p14
Protein expression level evidence1
Abnormal
 Western blot
 P8-p14
Size/growth1
 No change
 General observations
 P6, p9, p12
Cued or contextual fear conditioning: memory of context1
 No change
 Fear conditioning test
 9-11 months
Gene expression1
 No change
 Quantitative pcr (qrt-pcr)
 P8-p14
Gene expression1
 No change
 Quantitative pcr (qrt-pcr)
 P8-p14
Protein expression level evidence1
 No change
 Western blot
 P8-p14, adult
Protein expression level evidence1
 No change
 Western blot
 P8-p14
Action potential property: amplitude1
 No change
 Whole-cell patch clamp
 P11-p15
Decay kinetics of evoked post synaptic currents1
 No change
 Whole-cell patch clamp
 P11-p15
Decay kinetics of evoked post synaptic currents1
 No change
 Whole-cell patch clamp
 1.5-2.3 months
Synaptic transmission: excitatory1
 No change
 Whole-cell patch clamp
 1.5-2.3 months
Olfaction1
 No change
 Buried food test
 2-3 months
Pain or nociception1
 No change
 Hot plate test
 5-7 months
Nest building behavior1
 No change
 Nest building assay
 3-6 months
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
Actc1 actin, alpha, cardiac muscle 1 11464 P68033 MudPIT
Berg JM , et al. 2015
App amyloid beta (A4) precursor protein 11820 P12023 RNA immunoprecipitation (RIP)
Berg JM , et al. 2015
Camk2a calcium/calmodulin-dependent protein kinase II alpha 12322 P11798 MudPIT
RNA immunoprecipitation (RIP)
Berg JM , et al. 2015
Camk2a calcium/calmodulin-dependent protein kinase II alpha 12322 P11798 MudPIT
RNA immunoprecipitation (RIP)
Berg JM , et al. 2015
Camk2g calcium/calmodulin-dependent protein kinase II gamma 12325 Q923T9 MudPIT; IP/WB
Berg JM , et al. 2015
Clasp1 CLIP associating protein 1 76707 Q80TV8 MudPIT
Berg JM , et al. 2015
Clasp2 CLIP associating protein 2 76499 Q8BRT1 MudPIT; IP/WB
Berg JM , et al. 2015
Clip4 CAP-GLY domain containing linker protein family, member 4 78785 Q8CI96 MudPIT
Berg JM , et al. 2015
Dag1 dystroglycan 1 13138 Q62165 RNA immunoprecipitation (RIP)
Berg JM , et al. 2015
Dclk1 doublecortin-like kinase 1 13175 Q9JLM8 MudPIT
Berg JM , et al. 2015
Ddx5 DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 13207 Q8BTS0 MudPIT; IP/WB
Berg JM , et al. 2015
Dlg4 Postsynaptic density protein 95 13385 Q62108 RNA immunoprecipitation (RIP)
Berg JM , et al. 2015
Dlgap4 discs, large homolog-associated protein 4 (Drosophila) 228836 B1AZP2 RNA immunoprecipitation (RIP)
Berg JM , et al. 2015
Eef1a1 eukaryotic translation elongation factor 1 alpha 1 13627 P10126 MudPIT
Berg JM , et al. 2015
Eef2 eukaryotic translation elongation factor 2 13629 P58252 MudPIT
Berg JM , et al. 2015
Fmr1 fragile X mental retardation 1 14265 P35922 IP/WB
Berg JM , et al. 2015
Glud1 14661 glutamate dehydrogenase 1 P26443 MudPIT
Berg JM , et al. 2015
Gnb2l1 guanine nucleotide binding protein (G protein), beta polypeptide 2 like 1 14694 P68040 MudPIT
Berg JM , et al. 2015
Gys1 glycogen synthase 1, muscle 14936 Q9Z1E4 MudPIT
Berg JM , et al. 2015
Hnrnpk heterogeneous nuclear ribonucleoprotein K 15387 P61979 MudPIT
Berg JM , et al. 2015
Hnrnpm heterogeneous nuclear ribonucleoprotein M 76936 Q9D0E1 MudPIT
Berg JM , et al. 2015
Igkv1-117 immunoglobulin kappa variable 1-117 16098 P01631 MudPIT
Berg JM , et al. 2015
Myo5a myosin VA 17918 Q99104 MudPIT
Berg JM , et al. 2015
Pabpc1 poly(A) binding protein, cytoplasmic 1 18458 P29341 MudPIT; IP/WB; Co-localization
Berg JM , et al. 2015
Plec plectin 18810 Q9QXS1 MudPIT
Berg JM , et al. 2015
Pura purine rich element binding protein A 19290 P42669 MudPIT
Berg JM , et al. 2015
Purb purine rich element binding protein B 19291 O35295 MudPIT
Berg JM , et al. 2015
Rpl10a ribosomal protein L10A 19896 P53026 IP/WB
Berg JM , et al. 2015
Rpl14 ribosomal protein L14 67115 Q9CR57 MudPIT
Berg JM , et al. 2015
Rpl5 ribosomal protein L5 100503670 P47962 MudPIT
Berg JM , et al. 2015
Rpl6 ribosomal protein L6 19988 P47911 MudPIT
Berg JM , et al. 2015
Rpl7 ribosomal protein L7 19989 P14148 MudPIT
Berg JM , et al. 2015
Rplp0 ribosomal protein, large, P0 11837 P14869 MudPIT
Berg JM , et al. 2015
Rps17 ribosomal protein S17 20068 P63276 MudPIT
Berg JM , et al. 2015
Rps3 ribosomal protein S3 27050 P62908 MudPIT
Berg JM , et al. 2015
Rps8 ribosomal protein S8 20116 P62242 MudPIT
Berg JM , et al. 2015
Rpsa ribosomal protein SA 16785 P14206 MudPIT
Berg JM , et al. 2015
Rufy3 RUN and FYVE domain containing 3 52822 Q9D394 MudPIT
Berg JM , et al. 2015
Syncrip synaptotagmin binding, cytoplasmic RNA interacting protein 56403 Q3TRV3 MudPIT
Berg JM , et al. 2015
Try5 trypsin 5 103964 Q9QUK9 MudPIT
Berg JM , et al. 2015
Tuba4a tubulin, alpha 4A 22145 P68368 MudPIT
Berg JM , et al. 2015
Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide 22628 P61982 MudPIT
Berg JM , et al. 2015
Ywhah tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide 22629 P68510 MudPIT
Berg JM , et al. 2015

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