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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CAPRIN1
cell cycle associated protein 1
Chromosome 11 Β· 11p13
NCBI Gene: 4076Ensembl: ENSG00000135387.22HGNC: HGNC:6743UniProt: Q14444
260PubMed Papers
22Diseases
0Drugs
26Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA bindingmRNA bindingprotein bindingATP bindingneurodegeneration, childhood-onset, with cerebellar ataxia and cognitive declineneurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disordercomplex neurodevelopmental disorderjuvenile myoclonic epilepsy
✦AI Summary

CAPRIN1 is an RNA-binding protein that serves as a critical regulator of mRNA transport, translation, and stability, with essential roles in neurogenesis, synaptic plasticity, and cell proliferation 1. The protein functions as a key component in cytoplasmic stress granule formation through liquid-liquid phase separation mechanisms 23. CAPRIN1 undergoes phase separation upon binding target mRNAs, assembling them into cytoplasmic ribonucleoprotein granules that concentrate mRNAs with regulatory factors 4. In these granules, CAPRIN1 mediates recruitment of deadenylase complexes, leading to mRNA deadenylation and translational inhibition 1. The protein directly binds to specific mRNAs including MYC, CCND2, BDNF, and CAMK2A 1. CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder characterized by language impairment, intellectual disability, ADHD, and autism spectrum disorder 1. In neuronal models, CAPRIN1 deficiency results in reduced neuronal processes, disrupted organization, impaired calcium signaling, and increased oxidative stress 1. The protein also interacts with FMRP in stress response pathways and plays roles in cancer biology through regulation of oncogene translation 546.

Sources cited
1
CAPRIN1 is an RNA-binding protein regulating mRNA transport/translation and causes neurodevelopmental disorder when haploinsufficient
PMID: 35979925
2
CAPRIN1 is essential for cytoplasmic stress granule formation and associates with neurodevelopmental disorders
PMID: 35977029
3
CAPRIN1 mediates stress granule condensation through G3BP complexes
PMID: 27022092
4
CAPRIN1 undergoes phase separation and regulates c-Myc translation in hepatocellular carcinoma
PMID: 35072355
5
CAPRIN1 interacts with FMRP in stress granule formation and cellular stress responses
PMID: 32525608
6
CAPRIN1 interacts with internalized PD-L1 to stabilize oncogenic mRNAs in cancer metastasis
PMID: 39046874
Disease Associationsβ“˜22
neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive declineOpen Targets
0.67Moderate
neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorderOpen Targets
0.67Moderate
complex neurodevelopmental disorderOpen Targets
0.37Weak
juvenile myoclonic epilepsyOpen Targets
0.34Weak
SeizureOpen Targets
0.33Weak
Epileptic encephalopathyOpen Targets
0.27Weak
autismOpen Targets
0.27Weak
Autistic behaviorOpen Targets
0.27Weak
Focal-onset seizureOpen Targets
0.27Weak
Moderate global developmental delayOpen Targets
0.27Weak
Moderate intellectual disabilityOpen Targets
0.27Weak
Moyamoya diseaseOpen Targets
0.26Weak
Neurodevelopmental disorderOpen Targets
0.19Weak
cerebellar ataxiaOpen Targets
0.12Weak
neoplasmOpen Targets
0.11Weak
cancerOpen Targets
0.10Weak
nasopharyngeal carcinomaOpen Targets
0.08Suggestive
liver cancerOpen Targets
0.08Suggestive
laryngeal neoplasmOpen Targets
0.07Suggestive
triple-negative breast cancerOpen Targets
0.07Suggestive
Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive declineUniProt
Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorderUniProt
Pathogenic Variants26
NM_005898.5(CAPRIN1):c.1066A>T (p.Arg356Ter)Pathogenic
Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder
β˜…β˜†β˜†β˜†2026β†’ Residue 356
NM_005898.5(CAPRIN1):c.1674_1677del (p.Thr559fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 559
NM_005898.5(CAPRIN1):c.1689dup (p.Glu564fs)Pathogenic
Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder
β˜…β˜†β˜†β˜†2025β†’ Residue 564
NM_005898.5(CAPRIN1):c.1733_1740del (p.Asp578fs)Likely pathogenic
Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder
β˜…β˜†β˜†β˜†2025β†’ Residue 578
NM_005898.5(CAPRIN1):c.1635T>A (p.Tyr545Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 545
NM_005898.5(CAPRIN1):c.1372C>T (p.Arg458Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 458
NM_005898.5(CAPRIN1):c.947G>A (p.Trp316Ter)Pathogenic
not specified
β˜…β˜†β˜†β˜†2025β†’ Residue 316
NM_005898.5(CAPRIN1):c.215del (p.Lys72fs)Pathogenic
not specified
β˜…β˜†β˜†β˜†2025β†’ Residue 72
NM_005898.5(CAPRIN1):c.844G>T (p.Glu282Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 282
NM_005898.5(CAPRIN1):c.1604del (p.Thr534_Leu535insTer)Pathogenic
not specified
β˜…β˜†β˜†β˜†2024β†’ Residue 534
NM_005898.5(CAPRIN1):c.380_383del (p.Ile127fs)Likely pathogenic
Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder
β˜…β˜†β˜†β˜†2024β†’ Residue 127
NM_005898.5(CAPRIN1):c.977C>A (p.Ser326Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 326
NM_005898.5(CAPRIN1):c.688+5G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_005898.5(CAPRIN1):c.1660C>T (p.His554Tyr)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 554
NM_005898.5(CAPRIN1):c.241C>T (p.Arg81Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 81
NM_005898.5(CAPRIN1):c.1654C>T (p.Gln552Ter)Likely pathogenic
Focal-onset seizure;Moderate global developmental delay;Epileptic encephalopathy
β˜…β˜†β˜†β˜†2023β†’ Residue 552
NM_005898.5(CAPRIN1):c.274C>T (p.Gln92Ter)Likely pathogenic
Autistic behavior;Seizure;Autism;Moderate intellectual disability
β˜…β˜†β˜†β˜†2023β†’ Residue 92
NM_005898.5(CAPRIN1):c.1493_1496del (p.Ser498fs)Pathogenic
CAPRIN1-related neurodevelopmental disorders
β˜…β˜†β˜†β˜†2022β†’ Residue 498
NM_005898.5(CAPRIN1):c.891_894del (p.Arg297fs)Pathogenic
Juvenile myoclonic epilepsy
β˜…β˜†β˜†β˜†β†’ Residue 297
NM_005898.5(CAPRIN1):c.832G>T (p.Glu278Ter)Likely pathogenic
Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder
β˜†β˜†β˜†β˜†2025β†’ Residue 278
View on ClinVar β†—
Related Genes
FUSProtein interaction100%EIF4G1Protein interaction100%EIF3BProtein interaction100%CSDE1Protein interaction99%TIA1Protein interaction93%FXR2Protein interaction90%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
94%
Heart
63%
Ovary
48%
Lung
46%
Liver
31%
Gene Interaction Network
Click a node to explore
CAPRIN1FUSEIF4G1EIF3BCSDE1TIA1FXR2
PROTEIN STRUCTURE
Preparing viewer…
PDB9HFU Β· 1.70 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.37Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.26 [0.18–0.37]
RankingsWhere CAPRIN1 stands among ~20K protein-coding genes
  • #1,454of 20,598
    Most Researched260 Β· top 10%
  • #1,931of 5,498
    Most Pathogenic Variants26
  • #1,732of 17,882
    Most Constrained (LOEUF)0.37 Β· top 10%
Genes detectedCAPRIN1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
PMID: 35979925
Brain Β· 2023
1.00
2
circVAMP3 Drives CAPRIN1 Phase Separation and Inhibits Hepatocellular Carcinoma by Suppressing c-Myc Translation.
PMID: 35072355
Adv Sci (Weinh) Β· 2022
0.90
3
G3BP-Caprin1-USP10 complexes mediate stress granule condensation and associate with 40S subunits.
PMID: 27022092
J Cell Biol Β· 2016
0.80
4
Stress Granule Assembly in Pulmonary Arterial Hypertension.
PMID: 39513903
Cells Β· 2024
0.76
5
Expression of GADD45G and CAPRIN1 in Human Nucleus Pulposus: Implications for Intervertebral Disc Degeneration.
PMID: 36982840
Int J Mol Sci Β· 2023
0.70