RPL35
entrez
11224
canonical
uniprot
P42766
canonical
ensembl
ENSG00000136942
resolver
ensp
ENSP00000259469
resolver
enst
ENST00000348462
resolver
genesymbol
RPL35
resolver
hgnc
HGNC:10344
resolver
uniprot
A8K4V7
resolver
uniprot
Q4VBY5
resolver
uniprot
Q5JTN5
resolver
uniprot
Q6IBC7
resolver
uniprot
Q96QJ7
resolver
uniprot
Q9BYF4
resolver
uniprot_entry
RL35_HUMAN
resolver
uniprot_sec
A8K4V7
resolver
uniprot_sec
Q4VBY5
resolver
uniprot_sec
Q5JTN5
resolver
uniprot_sec
Q6IBC7
resolver
uniprot_sec
Q96QJ7
resolver
uniprot_sec
Q9BYF4
resolver
amino_acid_sequence
MAKIKARDLRGKKKEELLKQLDDLKVELSQLRVAKVTGGAASKLSKIRVVRKSIARVLTVINQTQKENLRKFYKGKKYKPLDLRPKKTRAMRRRLNKHEENLKTKKQQRKERLYPLRKYAVKA
uniprot
proteins
disease_involvement
DISEASE: Diamond-Blackfan anemia 19 (DBA19) [MIM:618312]: 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. DBA19 inheritance is autosomal dominant. {ECO:0000269|PubMed:28280134}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:12962325, PubMed:23636399, PubMed:32669547). {ECO:0000269|PubMed:23636399, ECO:0000269|PubMed:32669547, ECO:0000305|PubMed:12962325}.
uniprot
proteins
mass_dalton
14551
uniprot
proteins
protein_family
Universal ribosomal protein uL29 family
uniprot
proteins
pubmed
11401437
uniprot
proteins
pubmed
12962325
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23636399
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24524803
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28280134
uniprot
proteins
pubmed
32669547
uniprot
proteins
sequence_length
123
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23636399}.
uniprot
proteins