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Jakmip1 Gene Detail
Summary
  • Symbol
    Jakmip1
  • Name
    janus kinase and microtubule interacting protein 1
  • Synonyms
    5830437M04Rik, C330021K24Rik, Gababrbp, Marlin-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1923321
    NCBI Gene: 76071
Location & Maps
more
  • Sequence Map
    Chr5:37028335-37150607 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      122273 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 19.66 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    JAKMIP1, janus kinase and microtubule interacting protein 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    JAKMIP1, janus kinase and microtubule interacting protein 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    Gababrbp, JAMIP1, MARLIN1
  • Links
    NCBI Gene ID: 152789
    neXtProt AC: NX_Q96N16

  • Chr Location
    4p16.1; chr4:6026199-6200591 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Jakmip1 mouse models

Human Disease Mouse Models
       Autism   OMIM: 209850 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    13 phenotypes from 1 allele in 1 genetic background
    23 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    2
  • Radiation induced
    2
  • Spontaneous
    1
  • Targeted
    2
  • Genomic Mutations
    6 involving Jakmip1
  • Incidental Mutations
Homozygous mutation of this gene results in social deficits, stereotyped activity, abnormal postnatal vocalizations, reduced anxiety/increased impulsivity and glutamatergic NMDAR signaling deficits.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000026769 VEGA Gene Model | MGI Sequence Detail 122273 C57BL/6J ±  kb
transcript OTTMUST00000066203 VEGA | MGI Sequence Detail 2496 Not Applicable  
polypeptide OTTMUSP00000033138 VEGA | MGI Sequence Detail 831 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    593 from dbSNP Build 142
Protein
Information
less
  • UniProt
    8 Sequences
  • Protein Ontology
    PR:000009199 Janus kinase and microtubule-interacting protein 1
  • InterPro Domains
    IPR024836 Janus kinase and microtubule-interacting protein
    IPR031994 Janus kinase and microtubule-interacting protein, C-terminal domain
Molecular
Reagents
less
  • All nucleic 17
    cDNA 17

    Microarray probesets 4
Other
Accession IDs
less
MGI:1925951
References
more
  • Summaries
    All 31
    Developmental Gene Expression 2
    Diseases 2
    Gene Ontology 6
    Phenotypes 23
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:228732 Berg JM, et al., JAKMIP1, a Novel Regulator of Neuronal Translation, Modulates Synaptic Function and Autistic-like Behaviors in Mouse. Neuron. 2015 Dec 16;88(6):1173-91

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory