| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
SEQUENCE 214 AA; 24604 MW; 0860CECC91DF74FE CRC64;,
SUBUNIT: Component of the large ribosomal subunit. Mature ribosomes consist of a small (40S) and a large (60S) subunit. The 40S subunit contains about 33 different proteins and 1 molecule of RNA (18S). The 60S subunit contains about 49 different proteins and 3 molecules of RNA (28S, 5.8S and 5S). DEVELOPMENTAL STAGE: Down-regulated during adipocyte, kidney, and heart differentiation. DISEASE: Defects in RPL10 are a cause of susceptibility to autism X-linked type 5 (AUTSX5) [MIM:300847]. A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. Note=RPL10 is involved in autism only in rare cases. Two hypomorphic variants affecting the translation process have been found in families with autism spectrum disorders, suggesting that aberrant translation may play a role in disease mechanisms. SIMILARITY: Belongs to the ribosomal protein L10e family. SEQUENCE CAUTION: Sequence=AAB22173.1; Type=Frameshift; Positions=124; Sequence=CAM45852.1; Type=Erroneous gene model prediction; Sequence=CAM45853.1; Type=Erroneous gene model prediction; GENE SYNONYMS:RPL10 DXS648E QM. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:10298,
urn:biopax:RelationshipXref:NCBI GENE_6134,
urn:biopax:RelationshipXref:REFSEQ_NP_001243506,
urn:biopax:RelationshipXref:REFSEQ_NP_001243509,
urn:biopax:RelationshipXref:REFSEQ_NP_006004,
urn:biopax:UnificationXref:UNIPROT_A3KQT0,
urn:biopax:UnificationXref:UNIPROT_D3DWW6,
urn:biopax:UnificationXref:UNIPROT_P27635,
urn:biopax:UnificationXref:UNIPROT_Q16470,
urn:biopax:UnificationXref:UNIPROT_Q2HXT7,
urn:biopax:UnificationXref:UNIPROT_Q53FH7,
urn:biopax:UnificationXref:UNIPROT_Q6FGN8,
urn:biopax:UnificationXref:UNIPROT_Q8TDA5
|
| biopax3:displayName |
RL10_HUMAN
|
| biopax3:name |
Laminin receptor homolog,
Protein QM,
RPL10,
Tumor suppressor QM
|
| biopax3:entityFeature | |
| biopax3:organism | |
| biopax3:sequence |
MGRRPARCYRYCKNKPYPKSRFCRGVPDAKIRIFDLGRKKAKVDEFPLCGHMVSDEYEQLSSEALEAARICANKYMVKSCGKDGFHIRVRLHPFHVIRINKMLSCAGADRLQTGMRGAFGKPQGTVARVHIGQVIMSIRTKLQNKEHVIEALRRAKFKFPGRQKIHISKKWGFTKFNADEFEDMVAEKRLIPDGCGVKYIPNRGPLDKWRALHS
|
| biopax3:standardName |
60S ribosomal protein L10
|