RPS29
entrez
6235
canonical
uniprot
P62273
canonical
ensembl
ENSG00000213741
resolver
ensp
ENSP00000245458
resolver
ensp
ENSP00000379339
resolver
ensp
ENSP00000478117
resolver
enst
ENST00000557111
resolver
genesymbol
RPS29
resolver
hgnc
HGNC:10419
resolver
uniprot
A0A087WTT6
resolver
uniprot
A8MZ73
resolver
uniprot
P30054
resolver
uniprot_entry
A0A087WTT6_HUMAN
resolver
uniprot_entry
RS29_HUMAN
resolver
uniprot_sec
A8MZ73
resolver
uniprot_sec
P30054
resolver
amino_acid_sequence
MGHQQLYWSHPRKFGQGSRSCRVCSNRHGLIRKYGLNMCRQCFRQYAKDIGFIKLD
uniprot
proteins
disease_involvement
DISEASE: Diamond-Blackfan anemia 13 (DBA13) [MIM:615909]: An autosomal dominant 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:24829207}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the small ribosomal subunit (PubMed:23636399, PubMed:25901680, PubMed:25957688). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:25901680, PubMed:25957688). {ECO:0000269|PubMed:23636399, ECO:0000269|PubMed:25901680, ECO:0000269|PubMed:25957688}.
uniprot
proteins
mass_dalton
6677
uniprot
proteins
protein_family
Universal ribosomal protein uS14 family
uniprot
proteins
pubmed
11875025
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23636399
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
24524803
uniprot
proteins
pubmed
24829207
uniprot
proteins
pubmed
25901680
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
25957688
uniprot
proteins
pubmed
7772601
uniprot
proteins
pubmed
8706699
uniprot
proteins
pubmed
8781548
uniprot
proteins
pubmed
9582194
uniprot
proteins
sequence_length
56
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:25957688}. Cytoplasm {ECO:0000305|PubMed:23636399, ECO:0000305|PubMed:25901680}. Rough endoplasmic reticulum {ECO:0000250|UniProtKB:Q6QAP6}. Note=Detected on cytosolic polysomes (PubMed:25957688). Detected in ribosomes that are associated with the rough endoplasmic reticulum (By similarity). {ECO:0000250|UniProtKB:Q6QAP6, ECO:0000269|PubMed:25957688}.
uniprot
proteins