RPL10 ribosomal protein L10 [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

Location:: Xq28

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (154398065..154402339)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (152634585..152638859)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (153626406..153630680)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

REN89410 (e-PCR)
- UniSTS:414208

REN89412 (e-PCR)
- UniSTS:414210

REN89413 (e-PCR)
- UniSTS:414211

REN89414 (e-PCR)
- UniSTS:414212

REN89415 (e-PCR)
- UniSTS:414213

REN89416 (e-PCR)
- UniSTS:414214

REN89417 (e-PCR)
- UniSTS:414215

REN89418 (e-PCR)
- UniSTS:414216

REN89419 (e-PCR)
- UniSTS:414217

REN89420 (e-PCR)
- UniSTS:414218

REN89421 (e-PCR)
- UniSTS:414219

REN89422 (e-PCR)
- UniSTS:414220

REN89423 (e-PCR)
- UniSTS:414221

REN89424 (e-PCR)
- UniSTS:414222

REN89425 (e-PCR)
- UniSTS:414223

REN89426 (e-PCR)
- UniSTS:414224

REN89427 (e-PCR)
- UniSTS:414225

REN89428 (e-PCR)
- UniSTS:414226

REN89429 (e-PCR)
- UniSTS:414227

REN89430 (e-PCR)
- UniSTS:414228

REN89431 (e-PCR)
- UniSTS:414229

REN89432 (e-PCR)
- UniSTS:414230

REN89433 (e-PCR)
- UniSTS:414231

REN89434 (e-PCR)
- UniSTS:414232

REN89435 (e-PCR)
- UniSTS:414233

REN89436 (e-PCR)
- UniSTS:414234

REN89440 (e-PCR)
- UniSTS:414238

Ndufb11 (e-PCR), detects polymorphism
- UniSTS:498527

ECD02421 (e-PCR)
- UniSTS:283519

RP_L10 (e-PCR)
- UniSTS:77200

G65816 (e-PCR)
- UniSTS:166806

G54829 (e-PCR)
- UniSTS:117912

D17S1505E (e-PCR)
- UniSTS:151710

stSG604020 (e-PCR)
- UniSTS:447398

stSG604022 (e-PCR)
- UniSTS:447400

RH45180 (e-PCR)
- UniSTS:84911

ECD01698 (e-PCR)
- UniSTS:282799

ECD02003 (e-PCR)
- UniSTS:283104

ECD01498 (e-PCR)
- UniSTS:282601

ECD01499 (e-PCR)
- UniSTS:282602

DXS6979E (e-PCR)
- UniSTS:151294

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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 translation	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 more info	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 more info	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

EC 3.6.5.3

NP_001243509.2

EC 3.6.5.3

NP_001290553.1

EC 3.6.5.3

NP_001290554.1

EC 3.6.5.3

NP_001290555.1

EC 3.6.5.3

NP_006004.3

EC 3.6.5.3

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

NG_012890.2 RefSeqGene

Range

5149..9104

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
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 ...
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
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
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, ...
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