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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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6134
|
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Ribosomal protein L10 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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RPL10 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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AUTSX5, DXS648, DXS648E, L10, MRXS35, NOV, QM, uL16 |
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Chromosome
Chromosome number
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X |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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Xq28 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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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 |
| UniProt ID |
P27635
|
| Protein name |
Large ribosomal subunit protein uL16 (60S ribosomal protein L10) (Laminin receptor homolog) (Protein QM) (Ribosomal protein L10) (Tumor suppressor QM) |
| Protein function |
Component of the large ribosomal subunit (PubMed:26290468). Plays a role in the formation of actively translating ribosomes (PubMed:26290468). May play a role in the embryonic brain development (PubMed:25316788). {ECO:0000269|PubMed:25316788, EC |
| PDB |
2PA2
,
5AJ0
,
6OLE
,
6OLF
,
6OLG
,
6OLI
,
6OLZ
,
6OM0
,
6OM7
,
6W6L
,
7F5S
,
8A3D
,
8FLD
,
8FLE
,
8FLF
,
8G5Y
,
8G5Z
,
8G60
,
8G61
,
8G6J
,
8GLP
,
8K2C
,
8QFD
,
8XSY
,
8XSZ
,
8YOO
,
8YOP
,
9C3H
,
9GMO
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
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PF00252
|
Ribosomal_L16 |
12 → 166 |
Ribosomal protein L16p/L10e |
Family |
|
| Sequence |
|
| Sequence length |
214 |
| Interactions |
View interactions
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Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
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| Disease merge term |
Disease name |
dbSNP ID |
References |
| Mental Retardation, X-Linked |
Intellectual disability, X-linked, syndromic, 35 |
rs1131692040, rs1131692041, rs1131692042, rs1019534975 |
N/A |
|
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Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Autism |
autism, susceptibility to, X-linked 5 |
N/A |
N/A |
GenCC |
| Autism, X-Linked |
Autism, susceptibility to, X-linked 5 |
N/A |
N/A |
ClinVar |
|
|
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