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RPL10 ribosomal protein L10 [ Homo sapiens (human) ]

Gene ID: 6134, updated on 7-Apr-2024

Summary

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Official Symbol
RPL10provided by HGNC
Official Full Name
ribosomal protein L10provided by HGNC
Primary source
HGNC:HGNC:10298
See related
Ensembl:ENSG00000147403 MIM:312173; AllianceGenome:HGNC:10298
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
QM; L10; NOV; uL16; AUTSX5; DXS648; MRXS35; DXS648E
Summary
This gene encodes a ribosomal protein that is a component of the 60S ribosome subunit. The related protein in chicken can bind to c-Jun and can repress c-Jun-mediated transcriptional activation. Some studies have detected an association between variation in this gene and autism spectrum disorders, though others do not detect this relationship. There are multiple pseudogenes of this gene dispersed throughout the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Expression
Ubiquitous expression in ovary (RPKM 795.4), lymph node (RPKM 396.3) and 25 other tissues See more
Orthologs
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Genomic context

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See RPL10 in Genome Data Viewer
Location:
Xq28
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (154398065..154402339)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152634585..152638859)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153626406..153630680)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene Xq28 proximal FLNA-EMD recombination region Neighboring gene filamin A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153596747-153597274 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153597275-153597800 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21086 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21087 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153599383-153599908 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153599914-153600555 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21093 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30059 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21095 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21096 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21097 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21098 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153608033-153608612 Neighboring gene Xq28 distal FLNA-EMD recombination region Neighboring gene emerin Neighboring gene uncharacterized LOC124905228 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21099 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21100 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153626083-153626628 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30060 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153627173-153627718 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153627719-153628262 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153628263-153628808 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153628809-153629352 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30061 Neighboring gene deoxyribonuclease 1 like 1 Neighboring gene small nucleolar RNA, H/ACA box 70 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21101 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:153641748-153641921 Neighboring gene tafazzin, phospholipid-lysophospholipid transacylase Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153647927-153648428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153648429-153648928 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153656739-153657240 Neighboring gene ATP6AP1 divergent transcript

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The ufmylation modification of ribosomal protein L10 in the development of pancreatic adenocarcinoma. Wang K, et al. Cell Death Dis, 2023 Jun 7. PMID 37280198, Free PMC Article
  2. Ribosomal protein L10 in mitochondria serves as a regulator for ROS level in pancreatic cancer cells. Yang J, et al. Redox Biol, 2018 Oct. PMID 30172100, Free PMC Article
  3. A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature. Bourque DK, et al. Eur J Med Genet, 2018 Feb. PMID 29066376
  4. RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability. Thevenon J, et al. Am J Med Genet A, 2015 Aug. PMID 25846674
  5. Mutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorder. Chiocchetti A, et al. Am J Med Genet A, 2011 Jun. PMID 21567917

See all (236) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The ufmylation modification of ribosomal protein L10 in the development of pancreatic adenocarcinoma.
    Title: The ufmylation modification of ribosomal protein L10 in the development of pancreatic adenocarcinoma.
  2. RPL10 R98S mutation is associated with T-cell acute lymphoblastic leukemia.
    Title: The ribosomal RPL10 R98S mutation drives IRES-dependent BCL-2 translation in T-ALL.
  3. Mutation R98S in the RPL10 gene in cells from patients with T-Cell acute lymphocytic leukemia results in elevated expression of JAK-STAT signaling cascade proteins, hyper-reactivity to cytokine stimulation, and sensitization to JAK-STAT inhibitors.
    Title: The T-cell leukemia-associated ribosomal RPL10 R98S mutation enhances JAK-STAT signaling.
  4. The regulation of reactive oxygen species level by mitochondrial RPL10 is one of the major extra-ribosomal functions in pancreatic cancer cells, which could be used as an indicator for the tumorigenesis of pancreatic cancer.
    Title: Ribosomal protein L10 in mitochondria serves as a regulator for ROS level in pancreatic cancer cells.
  5. there are 7 mutations in RPL10 in 344 patients, or a mutation frequency of 2%
    Title: Low frequency mutations in ribosomal proteins RPL10 and RPL5 in multiple myeloma.
  6. A rare de novo mutation K78E is associated with severe syndromic intellectual disability and epilepsy.
    Title: A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature.
  7. Mitochondrial Ribosomal Protein L10 regulates cyclin B1/Cdk1 (cyclin-dependent kinase 1) activity and mitochondrial protein synthesis in mammalian cells
    Title: Mitochondrial Ribosomal Protein L10 Associates with Cyclin B1/Cdk1 Activity and Mitochondrial Function.
  8. Our results expand the mutational and clinical spectrum of RPL10 identifying a new genetic cause of SED and highlight the emerging role of ribosomal proteins in the pathogenesis of neurodevelopmental disorders.
    Title: A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.
  9. report confirms the implication of RPL10 mutations in neurodevelopmental disorders and extends the associated clinical spectrum from autism to syndromic intellectual disability
    Title: RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability.
  10. A mutation within the conserved N-terminal end of RPL10, a protein in close proximity to the peptidyl transferase active site of the 60S ribosomal subunit, causes severe defects in brain formation and function.
    Title: A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.
Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Autism spectrum disorder
MedGen: C1510586 GeneReviews: Not available
Compare labs
Autism, susceptibility to, X-linked 5
MedGen: C3275438 OMIM: 300847 GeneReviews: Not available
Compare labs
Intellectual disability, X-linked, syndromic, 35
MedGen: C4478383 OMIM: 300998 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2018-10-24)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2018-10-24)

ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify ribosomal protein L10 (RPL10), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify ribosomal protein L10 (RPL10), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Nef nef Tandem affinity purification and mass spectrometry analysis identify ribosomal protein L10 (RPL10), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify ribosomal protein L10 (RPL10), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human 60S ribosomal protein L10 (RPL10) at amino acid residues 53-54 and 56-57 by the HIV-1 protease PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ23544, FLJ27072, DKFZp686J1851

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables structural constituent of ribosome IBA
Inferred from Biological aspect of Ancestor
more info
  
enables structural constituent of ribosome IDA
Inferred from Direct Assay
more info
 PubMed 
enables structural constituent of ribosome IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables structural constituent of ribosome NAS
Non-traceable Author Statement
more info
 PubMed 
enables translation regulator activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in cytoplasmic translation IC
Inferred by Curator
more info
 PubMed 
involved_in embryonic brain development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of translation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in ribosomal large subunit assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within translation IC
Inferred by Curator
more info
 PubMed 
involved_in translation NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
part_of cytosolic large ribosomal subunit HDA PubMed 
part_of cytosolic large ribosomal subunit IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of cytosolic large ribosomal subunit IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosolic ribosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
  
located_in membrane HDA PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
 PubMed 
colocalizes_with smooth endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
large ribosomal subunit protein uL16
Names
60S ribosomal protein L10
Wilms tumor-related protein
laminin receptor homolog
tumor suppressor QM
NP_001243506.2
NP_001243509.2
NP_001290553.1
NP_001290554.1
NP_001290555.1
NP_006004.3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012890.2 RefSeqGene

    Range
    5149..9104
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001256577.2 → NP_001243506.2  large ribosomal subunit protein uL16 isoform b

    See identical proteins and their annotated locations for NP_001243506.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (b) has a distinct, longer C-terminus than isoform a.
    Source sequence(s)
    AC245140, AK307511, BC003358, DA589764
    UniProtKB/TrEMBL
    A6QRI9
    Related
    ENSP00000395025.1, ENST00000458500.5
    Conserved Domains (1) summary
    cl00353
    Location:1 → 110
    Ribosomal_L16_L10e; Ribosomal_L16_L10e: L16 is an essential protein in the large ribosomal subunit of bacteria, mitochondria, and chloroplasts. Large subunits that lack L16 are defective in peptidyl transferase activity, peptidyl-tRNA hydrolysis activity, association with ...

  2. NM_001256580.2 → NP_001243509.2  large ribosomal subunit protein uL16 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
    Source sequence(s)
    AC245140, BC003358, BC071918, BM845289, DA589764
    UniProtKB/TrEMBL
    F8W7C6
    Conserved Domains (1) summary
    cl00353
    Location:1 → 173
    Ribosomal_L16_L10e; Ribosomal_L16_L10e: L16 is an essential protein in the large ribosomal subunit of bacteria, mitochondria, and chloroplasts. Large subunits that lack L16 are defective in peptidyl transferase activity, peptidyl-tRNA hydrolysis activity, association with ...

  3. NM_001303624.2 → NP_001290553.1  large ribosomal subunit protein uL16 isoform a

    See identical proteins and their annotated locations for NP_001290553.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 4, and 5 encode the same isoform (a).
    Source sequence(s)
    AC245140, AK026568, BC003358
    Consensus CDS
    CCDS14746.1
    UniProtKB/Swiss-Prot
    A3KQT0, D3DWW6, P27635, Q16470, Q2HXT7, Q53FH7, Q6FGN8, Q8TDA5
    UniProtKB/TrEMBL
    X1WI28, X5D2T3
    Related
    ENSP00000341730.4, ENST00000344746.8
    Conserved Domains (1) summary
    PTZ00173
    Location:1 → 209
    PTZ00173; 60S ribosomal protein L10; Provisional

  4. NM_001303625.1 → NP_001290554.1  large ribosomal subunit protein uL16 isoform a

    See identical proteins and their annotated locations for NP_001290554.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1, 4, and 5 encode the same isoform (a).
    Source sequence(s)
    AC245140, BC003358, BM761549, DA589764
    Consensus CDS
    CCDS14746.1
    UniProtKB/Swiss-Prot
    A3KQT0, D3DWW6, P27635, Q16470, Q2HXT7, Q53FH7, Q6FGN8, Q8TDA5
    UniProtKB/TrEMBL
    X1WI28, X5D2T3
    Related
    ENSP00000388600.1, ENST00000436473.5
    Conserved Domains (1) summary
    PTZ00173
    Location:1 → 209
    PTZ00173; 60S ribosomal protein L10; Provisional

  5. NM_001303626.1 → NP_001290555.1  large ribosomal subunit protein uL16 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) has a shorter 5' UTR and uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (d) has a distinct, shorter C-terminus than isoform a.
    Source sequence(s)
    AC245140, BC003358, BC095425, CA776692
    UniProtKB/Swiss-Prot
    P27635
    Conserved Domains (1) summary
    cl00353
    Location:1 → 110
    Ribosomal_L16_L10e; L16 is an essential protein in the large ribosomal subunit of bacteria, mitochondria, and chloroplasts. Large subunits that lack L16 are defective in peptidyl transferase activity, peptidyl-tRNA hydrolysis activity, association with the 30S subunit, ...

  6. NM_006013.5 → NP_006004.3  large ribosomal subunit protein uL16 isoform a

    See identical proteins and their annotated locations for NP_006004.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform a. Variants 1, 4, and 5 encode the same isoform (a).
    Source sequence(s)
    AC245140, AK130582
    Consensus CDS
    CCDS14746.1
    UniProtKB/Swiss-Prot
    A3KQT0, D3DWW6, P27635, Q16470, Q2HXT7, Q53FH7, Q6FGN8, Q8TDA5
    UniProtKB/TrEMBL
    X1WI28, X5D2T3
    Related
    ENSP00000358832.2, ENST00000369817.7
    Conserved Domains (1) summary
    PTZ00173
    Location:1 → 209
    PTZ00173; 60S ribosomal protein L10; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    154398065..154402339
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    152634585..152638859
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P27635.5 GenPept UniProtKB/Swiss-Prot:P27635

Gene LinkOut

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