RBCC Red Blood Cell Collection

RL35A_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: RPL35A , GIG33
Protein names and data: RL35A_HUMAN , 60S ribosomal protein L35a , Cell growth-inhibiting gene 33 protein Lenght: 110 a.a.
Mass: 12538 Da
fasta formatted sequence
Function: Required for the proliferation and viability of hematopoietic cells. Plays a role in 60S ribosomal subunit formation. The protein was found to bind to both initiator and elongator tRNAs and consequently was assigned to the P site or P and A site.
Disease: ( OMIM: 180468 612528 ) Diamond-Blackfan anemia 5 (DBA5) [MIM:612528]: 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.

Genetic variants

27 - 27 Missing (in DBA5). VAR_055446
33 - 33 V -> I (in DBA5; may result in aberrant splicing). VAR_055447

Database cross-references

UniProt: P18077
Ensembl: ENST00000448864
Ensembl: ENST00000464167
MIM: 180468
MIM: 612528
neXtProt: NX_P18077
Antibodypedia: P18077 (may not find the protein thus also not any antibody)
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