UniProt functional annotation for P62266



	UniProt functional annotation for P62266

UniProt code: P62266.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:28257692, PubMed:23636399, PubMed:25957688, PubMed:25901680). The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules. The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase center (PTC), which catalyzes the formation of peptide bonds, thereby polymerizing the amino acids delivered by tRNAs into a polypeptide chain. The nascent polypeptides leave the ribosome through a tunnel in the LSU and interact with protein factors that function in enzymatic processing, targeting, and the membrane insertion of nascent chains at the exit of the ribosomal tunnel (PubMed:23636399, PubMed:25957688, PubMed:25901680). Plays an important role in translational accuracy (PubMed:28257692). {ECO:0000269|PubMed:23636399, ECO:0000269|PubMed:25901680, ECO:0000269|PubMed:25957688, ECO:0000269|PubMed:28257692}.

Subunit: Component of the 40S small ribosomal subunit. {ECO:0000269|PubMed:23636399, ECO:0000269|PubMed:25901680, ECO:0000269|PubMed:25957688}.

Subcellular location: Cytoplasm, cytosol {ECO:0000269|PubMed:25957688}. Cytoplasm {ECO:0000305|PubMed:23636399, ECO:0000305|PubMed:25901680}. Rough endoplasmic reticulum {ECO:0000250|UniProtKB:Q6SA96}. Note=Detected on cytosolic polysomes (PubMed:25957688). Detected in ribosomes that are associated with the rough endoplasmic reticulum (By similarity). {ECO:0000250|UniProtKB:Q6SA96, ECO:0000269|PubMed:25957688}.

Ptm: Hydroxylation at Pro-62 affects translation termination efficiency. {ECO:0000269|PubMed:24550447, ECO:0000269|PubMed:24550462, ECO:0000269|PubMed:28257692}.

Disease: Brachycephaly, trichomegaly, and developmental delay (BTDD) [MIM:617412]: An autosomal dominant developmental disorder characterized by brachycephaly, ciliary trichomegaly, dysmorphic features of the face and hands, hearing loss, and developmental delay with short stature. Intellectual disability and autism spectrum disorder may be present in some patients. {ECO:0000269|PubMed:28257692}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the universal ribosomal protein uS12 family. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:28257692, PubMed:23636399, PubMed:25957688, PubMed:25901680). The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules. The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase center (PTC), which catalyzes the formation of peptide bonds, thereby polymerizing the amino acids delivered by tRNAs into a polypeptide chain. The nascent polypeptides leave the ribosome through a tunnel in the LSU and interact with protein factors that function in enzymatic processing, targeting, and the membrane insertion of nascent chains at the exit of the ribosomal tunnel (PubMed:23636399, PubMed:25957688, PubMed:25901680). Plays an important role in translational accuracy (PubMed:28257692). {ECO:0000269\|PubMed:23636399, ECO:0000269\|PubMed:25901680, ECO:0000269\|PubMed:25957688, ECO:0000269\|PubMed:28257692}.


Subunit:		Component of the 40S small ribosomal subunit. {ECO:0000269\|PubMed:23636399, ECO:0000269\|PubMed:25901680, ECO:0000269\|PubMed:25957688}.
Subcellular location:		Cytoplasm, cytosol {ECO:0000269\|PubMed:25957688}. Cytoplasm {ECO:0000305\|PubMed:23636399, ECO:0000305\|PubMed:25901680}. Rough endoplasmic reticulum {ECO:0000250\|UniProtKB:Q6SA96}. Note=Detected on cytosolic polysomes (PubMed:25957688). Detected in ribosomes that are associated with the rough endoplasmic reticulum (By similarity). {ECO:0000250\|UniProtKB:Q6SA96, ECO:0000269\|PubMed:25957688}.
Ptm:		Hydroxylation at Pro-62 affects translation termination efficiency. {ECO:0000269\|PubMed:24550447, ECO:0000269\|PubMed:24550462, ECO:0000269\|PubMed:28257692}.
Disease:		Brachycephaly, trichomegaly, and developmental delay (BTDD) [MIM:617412]: An autosomal dominant developmental disorder characterized by brachycephaly, ciliary trichomegaly, dysmorphic features of the face and hands, hearing loss, and developmental delay with short stature. Intellectual disability and autism spectrum disorder may be present in some patients. {ECO:0000269\|PubMed:28257692}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the universal ribosomal protein uS12 family. {ECO:0000305}.