RBCC Red Blood Cell Collection

RS7_HUMAN

Source: PM19886704
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: RPS7
Protein names and data: RS7_HUMAN , 40S ribosomal protein S7 Lenght: 194 a.a.
Mass: 22127 Da
fasta formatted sequence
Function: Required for rRNA maturation.
Disease: ( OMIM: 603658 612563 ) Diamond-Blackfan anemia 8 (DBA8) [MIM:612563]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Colocalizes with NEK6 in the centrosome.

Database cross-references

UniProt: P62081
Ensembl: ENST00000304921
Ensembl: ENST00000403564
Ensembl: ENST00000406376
MIM: 603658
MIM: 612563
neXtProt: NX_P62081
Antibodypedia: P62081 (may not find the protein thus also not any antibody)
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