RS19_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:
RPS19
Protein names and data:
RS19_HUMAN
, 40S ribosomal protein S19
Lenght: 145 a.a.
Mass: 16060 Da
fasta formatted sequence
Function:
Required for pre-rRNA processing and maturation of 40S ribosomal subunits.
Disease:
( OMIM:
105650
603474
)
Diamond-Blackfan anemia 1 (DBA1) [MIM:105650]: 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 developing leukemia. 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:
Nucleus. Note=Located more specifically in the nucleoli.
Tissue specificity:
Higher level expression is seen in the colon carcinoma tissue than normal colon tissue.
Genetic variants
9 - 14
Missing (in DBA1). VAR_055436
15 - 15
V -> F (in DBA1; affects protein stability; does not localize to the nucleolus). VAR_018438
17 - 17
A -> P (in DBA1). VAR_046145
18 - 19
LA -> E (in DBA1). VAR_055437
18 - 18
L -> P (in DBA1; affects protein stability; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit). VAR_018439
18 - 18
L -> R (in DBA1). VAR_046146
21 - 21
F -> S (in DBA1). VAR_055438
47 - 47
P -> L (in DBA1; affects assembly into a functional ribosomal subunit). VAR_018440
52 - 52
W -> C (in DBA1). VAR_055439
52 - 52
W -> R (in DBA1; affects assembly into a functional ribosomal subunit). VAR_018441
55 - 55
T -> M (in DBA1). VAR_018442
56 - 56
R -> Q (in DBA1; affects assembly into a functional ribosomal subunit). VAR_018437
57 - 57
A -> P (in DBA1; affects protein stability; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit). VAR_055440
58 - 60
Missing (in DBA1). VAR_046147
59 - 59
S -> F (in DBA1). VAR_046148
61 - 61
A -> E (in DBA1; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit). VAR_018443
62 - 62
R -> Q (in DBA1; affects assembly into a functional ribosomal subunit). VAR_018444
62 - 62
R -> W (in DBA1; increased protein degradation; affects assembly into a functional ribosomal subunit). VAR_006924
64 - 64
L -> P (in DBA1). VAR_055441
76 - 76
T -> P (in DBA1). VAR_055442
78 - 83
IYGGRQ -> R (in DBA1). VAR_055443
101 - 101
R -> H (in DBA1; increased protein degradation; affects assembly into a functional ribosomal subunit). VAR_018445
120 - 120
G -> R (in DBA1). VAR_018446
127 - 127
G -> E (in DBA1; affects protein stability; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit). VAR_055444
131 - 131
L -> P (in DBA1). VAR_018447
131 - 131
L -> R (in DBA1). VAR_046149
135 - 135
A -> T (in DBA1). VAR_055445
Database cross-references
UniProt:
P39019
Ensembl:
ENST00000593863
Ensembl:
ENST00000598742
MIM:
105650
MIM:
603474
neXtProt:
NX_P39019
Antibodypedia:
P39019
(may not find the protein thus also not any antibody)
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