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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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JAKMIP1
janus kinase and microtubule interacting protein 1
Chromosome 4 · 4p16.1
NCBI Gene: 152789Ensembl: ENSG00000152969.21HGNC: HGNC:26460UniProt: B3KWB6
35PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingprotein bindingGABA receptor bindingcognitionAbnormality of the skeletal systemVaricose veinsSmith-Magenis syndrometype 2 diabetes mellitus
✦AI Summary

JAKMIP1 (Janus kinase and microtubule interacting protein 1) is a multifunctional protein that serves as a critical regulator of neuronal translation and synaptic function. The protein functions as a component of polyribosomes and ribonucleoprotein translational regulatory complexes, working alongside fragile X mental retardation protein, DEAD box helicase 5, and poly(A) binding protein cytoplasmic 1 to control mRNA translation during synaptogenesis 1. JAKMIP1 associates with microtubules and colocalizes with the microtubule cytoskeleton, potentially facilitating microtubule-dependent transport processes 2. The protein is predominantly expressed in neural and lymphoid tissues, with particularly high expression in brain and retina 3. In the immune system, JAKMIP1 is absent in naive T cells but highly expressed in antigen-experienced effector T cells, where it functions as an inhibitory regulator of cytotoxic T lymphocyte activity 2. Loss of JAKMIP1 function dysregulates neuronal translation, affects glutamatergic NMDAR signaling, and results in autism-like behaviors including social deficits and stereotyped activities in mouse models 1. The protein has also been implicated in cancer biology, where overexpression associates with Wnt/β-catenin pathway activation and enhanced cancer cell proliferation 4. These findings establish JAKMIP1 as an important regulator of both neurodevelopmental processes and immune function.

Sources cited
1
JAKMIP1 is a component of polyribosomes and translational regulatory complexes that controls neuronal translation and synaptic function
PMID: 26627310
2
JAKMIP1 is predominantly expressed in brain and retina tissues with lower expression in other tissues
PMID: 17761393
3
JAKMIP1 colocalizes with microtubules and is expressed in antigen-experienced T cells where it inhibits cytotoxic activity
PMID: 18941173
4
JAKMIP1 overexpression associates with Wnt/β-catenin pathway activation and promotes cancer cell proliferation
PMID: 23481296
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.37Weak
Varicose veinsOpen Targets
0.36Weak
Smith-Magenis syndromeOpen Targets
0.34Weak
type 2 diabetes mellitusOpen Targets
0.34Weak
neurodegenerative diseaseOpen Targets
0.26Weak
Intellectual disabilityOpen Targets
0.26Weak
septic shockOpen Targets
0.26Weak
rosaceaOpen Targets
0.23Weak
SeizureOpen Targets
0.23Weak
tooth diseaseOpen Targets
0.22Weak
neuroendocrine neoplasmOpen Targets
0.22Weak
ankylosing spondylitisOpen Targets
0.21Weak
myeloid leukemiaOpen Targets
0.21Weak
Benign Thyroid Gland NeoplasmOpen Targets
0.17Weak
response to xenobiotic stimulusOpen Targets
0.17Weak
placenta praeviaOpen Targets
0.04Suggestive
childhood disintegrative disorderOpen Targets
0.04Suggestive
behavioral variant of frontotemporal dementiaOpen Targets
0.04Suggestive
glioblastoma multiformeOpen Targets
0.04Suggestive
autism spectrum disorderOpen Targets
0.04Suggestive
Pathogenic Variants1
NM_001099433.2(JAKMIP1):c.1756G>C (p.Asp586His)Pathogenic
Smith-Magenis Syndrome-like
★☆☆☆2016→ Residue 586
View on ClinVar ↗
Related Genes
LINS1Shared pathway100%TYK2Protein interaction79%GABBR2Protein interaction75%DGCR2Shared pathway50%RP9Shared pathway50%CBR3Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Lung
2%
Ovary
2%
Bone Marrow
1%
Liver
1%
Heart
0%
Gene Interaction Network
Click a node to explore
JAKMIP1LINS1TYK2GABBR2DGCR2RP9CBR3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96N16
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.39Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.28 [0.20–0.39]
RankingsWhere JAKMIP1 stands among ~20K protein-coding genes
  • #10,990of 20,598
    Most Researched35
  • #5,215of 5,498
    Most Pathogenic Variants1
  • #1,919of 17,882
    Most Constrained (LOEUF)0.39 · top quartile
Genes detectedJAKMIP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Development of a prognostic prediction model based on damage-associated molecular pattern for colorectal cancer applying bulk RNA-seq analysis.
PMID: 40670526
Sci Rep · 2025
1.00
2
JAKMIP1, a Novel Regulator of Neuronal Translation, Modulates Synaptic Function and Autistic-like Behaviors in Mouse.
PMID: 26627310
Neuron · 2015
0.90
3
Identification and expression analysis of novel Jakmip1 transcripts.
PMID: 17761393
Gene · 2007
0.80
4
Multi-Level Analysis and Identification of Tumor Mutational Burden Genes across Cancer Types.
PMID: 35205408
Genes (Basel) · 2022
0.70
5
Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways.
PMID: 17519220
Hum Mol Genet · 2007
0.60