RPS29 gene

ribosomal protein S29

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit and a member of the S14P family of ribosomal proteins. The protein, which contains a C2-C2 zinc finger-like domain that can bind to zinc, can enhance the tumor suppressor activity of Ras-related protein 1A (KREV1). It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]

Covered on Genetics Home Reference:

From NCBI Gene:

  • Diamond-Blackfan anemia 13

From UniProt:

Diamond-Blackfan anemia 13 (DBA13): 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. [MIM:615909]

Cytogenetic Location: 14q21.3, which is the long (q) arm of chromosome 14 at position 21.3

Molecular Location: base pairs 49,570,988 to 49,598,710 on chromosome 14 (Homo sapiens Updated Annotation Release 109.20200228, GRCh38.p13) (NCBI)

Cytogenetic Location: 14q21.3, which is the long (q) arm of chromosome 14 at position 21.3
  • DBA13
  • S29
  • uS14