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Relevance to Autism

Rare mutations in the RPL10 gene have been identified with autism (Klauck et al., 2006).

Molecular Function

This gene encodes a ribosomal protein that is a component of the 60S subunit. Th e protein belongs to the L10E family of ribosomal proteins.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.
ASD
Negative Association
An investigation of ribosomal protein L10 gene in autism spectrum disorders.
Support
A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and re...
ASD, ID, epilepsy/seizures
Hypotonia, ataxia, microcephaly, dysmorphic featur
Support
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.
ID
Support
RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability.
ID, speech delay, psychomotor delay
Microcephaly
Support
Mutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorder.
ASD
Highly Cited
QM, a putative tumor suppressor, regulates proto-oncogene c-yes.
Recent Recommendation
Protein signatures of oxidative stress response in a patient specific cell line model for autism.
Recent Recommendation
Saccharomyces cerevisiae HMO1 interacts with TFIID and participates in start site selection by RNA polymerase II.
Recent Recommendation
Mutational analysis of the ribosomal protein Rpl10 from yeast.
Recent Recommendation
Ribosomal protein L10 interacts with the SH3 domain and regulates GDNF-induced neurite growth in SH-SY-5y cells.
Recent Recommendation
Loss of heterozygosity and microsatellite instability at the Xq28 and the A/G heterozygosity of the QM gene are associated with ovarian cancer.
Recent Recommendation
A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.
Microcephaly, seizures

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN220R001 
 missense_variant 
 c.616C>A 
 p.Leu206Met 
 Familial 
 Maternal 
 Multiplex 
 GEN220R002 
 missense_variant 
 c.639C>G 
 p.His213Gln 
 Familial 
 Maternal 
 Multiplex 
 GEN220R003 
 missense_variant 
 c.639C>G 
 p.His213Gln 
 Familial 
 Maternal 
 Simplex 
 GEN220R004 
 missense_variant 
 c.232A>G 
 p.Lys78Glu 
 Familial 
 Maternal 
 Multi-generational 
 GEN220R005 
 missense_variant 
 c.481G>A 
 p.Glu161Lys 
 Familial 
 Maternal 
 Multi-generational 
 GEN220R006 
 missense_variant 
 c.191C>T 
 p.Ala64Val 
 Familial 
 Maternal 
 Extended multiplex 
 GEN220R007 
 missense_variant 
 c.232A>G 
 p.Lys78Glu 
 De novo 
 NA 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion-Duplication
 18
 
X
Deletion
 2
 
X
Deletion
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 1
 
X
Deletion
 2
 
X
Deletion-Duplication
 1
 
X
Deletion
 7
 
X
Deletion-Duplication
 65
 

Model Summary

Rpl10 suppression, mediated by translation and splice blocking morpholinos in zebrafish, results in microcephaly concomitant with reduced bulk translation and increased apoptosis in the brain although total body length is not affected.

References

Type
Title
Author, Year
Primary
A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.

Z_RPL10_1_KD_MO

Model Type: Genetic
Model Genotype: Wild type
Mutation: Zebrafish morphants with rpl10 gene suppression using a translation blocking morpholino targeting the translational start site of the rpl10 transcript injected into 1-4 cell stage embryos at a dose of 0.5 ng. .
Allele Type: Knockdown
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

Z_RPL10_2_KD_MO

Model Type: Genetic
Model Genotype: Wild type
Mutation: Zebrafish morphants with rpl10 gene suppression using a translation blocking morpholino targeting the translational start site of the rpl10 transcript injected into 1-4 cell stage embryos at a dose of 0.6 ng. .
Allele Type: Knockdown
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

Z_RPL10_3_KD_MO

Model Type: Genetic
Model Genotype: Wild type
Mutation: Zebrafish morphants with rpl10 gene suppression using a translation blocking morpholino targeting the translational start site of the rpl10 transcript injected into 1-4 cell stage embryos at a dose of 0.7 ng. .
Allele Type: Knockdown
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

Z_RPL10_4_KD_MO

Model Type: Genetic
Model Genotype: Wild type
Mutation: Zebrafish morphants with rpl10 gene suppression using a splice blocking morpholino that results in skipping of exon 2 encoding a premature stop codon injected into 1-4 cell stage embryos at a dose of 1 ng.
Allele Type: Knockdown
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

Z_RPL10_5_KD_MO

Model Type: Genetic
Model Genotype: Wild type
Mutation: Zebrafish morphants with rpl10 gene suppression using a splice blocking morpholino that results in skipping of exon 2 encoding a premature stop codon injected into 1-4 cell stage embryos at a dose of 2 ng.
Allele Type: Knockdown
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

Z_RPL10_6_KD_MO

Model Type: Genetic
Model Genotype: Wild type
Mutation: Zebrafish morphants with rpl10 gene suppression using a splice blocking morpholino that results in skipping of exon 2 encoding a premature stop codon injected into 1-4 cell stage embryos at a dose of 3 ng.
Allele Type: Knockdown
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

Z_RPL10_1_KD_MO

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Brain size1
Decreased
Description: Morphants show decreased head size compared to controls.
Exp Paradigm: An outline was drawn beginning at the posteriormost point of eye and tracing around the head to terminate at the starting point to measure forebrain cross sectional area.
 Histology
 2 dpf
Apoptosis: brain cells1
Increased
Description: Morphants show increased apoptosis in the brain compared to controls.
Exp Paradigm: 20 embryos of morphants and controls each were used for TUNEL assay.
 Tunel assay
 2 dpf
Myogenesis1
 No change
 Histology
 2 dpf
Size/growth1
 No change
 Body length measurement
 2 dpf
Cell proliferation: neural precursors1
 No change
 Immunofluorescence staining
 2 dpf
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

Z_RPL10_2_KD_MO

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Brain size1
Decreased
Description: Morphants show decreased head size compared to controls.
Exp Paradigm: An outline was drawn beginning at the posteriormost point of eye and tracing around the head to terminate at the starting point to measure forebrain cross sectional area.
 Histology
 2 dpf
Apoptosis: brain cells1
Increased
Description: Morphants show increased apoptosis in the brain compared to controls.
Exp Paradigm: 20 embryos of morphants and controls each were used for TUNEL assay.
 Tunel assay
 2 dpf
Myogenesis1
 No change
 Histology
 2 dpf
Size/growth1
 No change
 Body length measurement
 2 dpf
Cell proliferation: neural precursors1
 No change
 Immunofluorescence staining
 2 dpf
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

Z_RPL10_3_KD_MO

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Brain size1
Decreased
Description: Morphants show decreased head size compared to controls.
Exp Paradigm: An outline was drawn beginning at the posteriormost point of eye and tracing around the head to terminate at the starting point to measure forebrain cross sectional area.
 Histology
 2 dpf
Apoptosis: brain cells1
Increased
Description: Morphants show increased apoptosis in the brain compared to controls.
Exp Paradigm: 20 embryos of morphants and controls each were used for TUNEL assay.
 Tunel assay
 2 dpf
Myogenesis1
 No change
 Histology
 2 dpf
Size/growth1
 No change
 Body length measurement
 2 dpf
Targeted expression1
 No change
 In situ hybridization (ish)
 2dpf
Cell proliferation: neural precursors1
 No change
 Immunofluorescence staining
 2 dpf
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

Z_RPL10_4_KD_MO

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Brain size1
Decreased
Description: Morphants show decreased head size compared to controls.
Exp Paradigm: An outline was drawn beginning at the posteriormost point of eye and tracing around the head to terminate at the starting point to measure forebrain cross sectional area.
 Histology
 5 dpf
Apoptosis: brain cells1
Increased
Description: Morphants show increased apoptosis in the brain compared to controls.
Exp Paradigm: 20 embryos of morphants and controls each were used for TUNEL assay.
 Tunel assay
 1, 2 dpf
Regulation of translation1
Decreased
Description: Morphants show decreased translational activity in the head compared to controls.
Exp Paradigm: Increase in 80S ribosomal subunit and a decrease in polyribosome was used to measure translational activity.
 Polysome profiling
 5 dpf
Regulation of translation1
 No change
 Polysome profiling
 5 dpf
Cell proliferation: neural precursors1
 No change
 Immunofluorescence staining
 1, 2 dpf
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

Z_RPL10_5_KD_MO

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Brain size1
Decreased
Description: Morphants show decreased head size compared to controls.
Exp Paradigm: An outline was drawn beginning at the posteriormost point of eye and tracing around the head to terminate at the starting point to measure forebrain cross sectional area.
 Histology
 5 dpf
Apoptosis: brain cells1
Increased
Description: Morphants show increased apoptosis in the brain compared to controls.
Exp Paradigm: 20 embryos of morphants and controls each were used for TUNEL assay.
 Tunel assay
 2 dpf
Regulation of translation1
Decreased
Description: Morphants show decreased translational activity in the head compared to controls.
Exp Paradigm: Increase in 80S ribosomal subunit and a decrease in polyribosome was used to measure translational activity.
 Polysome profiling
 5 dpf
Regulation of translation1
 No change
 Polysome profiling
 5 dpf
Cell proliferation: neural precursors1
 No change
 Immunofluorescence staining
 2 dpf
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

Z_RPL10_6_KD_MO

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Brain size1
Decreased
Description: Morphants show decreased head size compared to controls.
Exp Paradigm: An outline was drawn beginning at the posteriormost point of eye and tracing around the head to terminate at the starting point to measure forebrain cross sectional area.
 Histology
 5 dpf
Apoptosis: brain cells1
Increased
Description: Morphants show increased apoptosis in the brain compared to controls.
Exp Paradigm: 20 embryos of morphants and controls each were used for TUNEL assay.
 Tunel assay
 2 dpf
Targeted expression1
Decreased
Description: Morphants show decreased expression of rpl10 in the head compared to controls.
Exp Paradigm: Quantitative PCR (qRT-PCR)
 Quantitative pcr (qrt-pcr)
 2dpf
Targeted expression1
Decreased
Description: Morphants show decreased expression of rpl10 in the head compared to controls.
Exp Paradigm: In situ hybridization (ISH): rpl10
 In situ hybridization (ish)
 2dpf
Regulation of translation1
Decreased
Description: Morphants show decreased translational activity in the head compared to controls.
Exp Paradigm: Increase in 80S ribosomal subunit and a decrease in polyribosome was used to measure translational activity.
 Polysome profiling
 5 dpf
Regulation of translation1
 No change
 Polysome profiling
 5 dpf
Cell proliferation: neural precursors1
 No change
 Immunofluorescence staining
 2 dpf
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
AAMP angio-associated, migratory cell protein 14 Q13685 IP; LC-MS/MS
Huttlin EL , et al. 2015
ACS2 Acetyl-coA synthetase isoform 850846 P52910 Y2H; Functional complementation
Oender K , et al. 2003
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 ChIP-chip
Subtil-Rodrguez A , et al. 2013
CUL3 cullin 3 8452 B7Z600 IP; MS; COMPASS
Bennett EJ , et al. 2010
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
FYN FYN oncogene related to SRC, FGR, YES 2534 P06241 GST
Oh HS , et al. 2002
HCK hemopoietic cell kinase 3055 P08631 GST
Oh HS , et al. 2002
LYN v-yes-1 Yamaguchi sarcoma viral related oncogene homolog 4067 P07948 GST
Oh HS , et al. 2002
PLB3 Phospholipase B (lysophospholipase) involved in phospholipid metabolism; hydrolyzes phosphatidylinositol and phosphatidylserine and displays transacylase activity in vitro 854151 Q08108 Y2H; Functional complementation
Oender K , et al. 2003
Prkca protein kinase C, alpha 24680 Q9EP80 Metabolic labeling with 32P
Inada H , et al. 1997
SED1 Major stress-induced structural GPI-cell wall glycoprotein in stationary-phase cells, associates with translating ribosomes, possible role in mitochondrial genome maintenance; ORF contains two distinct variable minisatellites 851649 Q01589 Y2H; Functional complementation
Oender K , et al. 2003
SRC v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) 6714 P12931 GST
Oh HS , et al. 2002
TBPL1 TBP-like 1 9519 P62380 Y2H
Stelzl U , et al. 2005
YES1 v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 7525 P07947 Y2H; GST; IP/WB
Oh HS , et al. 2002
EHMT1 G9a 30971 Q95RU8 ChIP-Seq
Kramer JM , et al. 2011

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