UniProt functional annotation for P62854



	UniProt functional annotation for P62854

UniProt code: P62854.

Organism: Homo sapiens (Human).

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

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:P49171}. Note=Detected on cytosolic polysomes (PubMed:25957688). Detected in ribosomes that are associated with the rough endoplasmic reticulum (By similarity). {ECO:0000250|UniProtKB:P49171, ECO:0000269|PubMed:25957688}.

Disease: Diamond-Blackfan anemia 10 (DBA10) [MIM:613309]: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies. {ECO:0000269|PubMed:20116044, ECO:0000269|PubMed:24942156}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the eukaryotic ribosomal protein eS26 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.


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:P49171}. Note=Detected on cytosolic polysomes (PubMed:25957688). Detected in ribosomes that are associated with the rough endoplasmic reticulum (By similarity). {ECO:0000250\|UniProtKB:P49171, ECO:0000269\|PubMed:25957688}.
Disease:		Diamond-Blackfan anemia 10 (DBA10) [MIM:613309]: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies. {ECO:0000269\|PubMed:20116044, ECO:0000269\|PubMed:24942156}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the eukaryotic ribosomal protein eS26 family. {ECO:0000305}.