40S ribosomal protein S29

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RPS29
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases RPS29, DBA13, S29, ribosomal protein S29
External IDs MGI: 107681 HomoloGene: 83197 GeneCards: RPS29
Gene location (Human)
Chromosome 14 (human)
Chr. Chromosome 14 (human)[1]
Chromosome 14 (human)
Genomic location for RPS29
Genomic location for RPS29
Band 14q21.3 Start 49,570,984 bp[1]
End 49,599,164 bp[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001032
NM_001030001
NM_001351375

NM_009093

RefSeq (protein)

NP_001023
NP_001025172
NP_001338304

NP_033119

Location (UCSC) Chr 14: 49.57 – 49.6 Mb Chr 14: 69.16 – 69.16 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

40S ribosomal protein S29 is a protein that in humans is encoded by the RPS29 gene.[5][6][7]

Function[edit]

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.[7]

Clinical significance[edit]

Mutations in RPS29 cause Diamond-Blackfan anemia .[8]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000213741 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034892 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Kondoh N, Noda M, Fisher RJ, Schweinfest CW, Papas TS, Kondoh A, Samuel KP, Oikawa T (August 1996). "The S29 ribosomal protein increases tumor suppressor activity of K rev-1 gene on v-K ras-transformed NIH3T3 cells". Biochimica et Biophysica Acta. 1313 (1): 41–6. PMID 8781548. doi:10.1016/0167-4889(96)00052-3. 
  6. ^ Frigerio JM, Dagorn JC, Iovanna JL (May 1995). "Cloning, sequencing and expression of the L5, L21, L27a, L28, S5, S9, S10 and S29 human ribosomal protein mRNAs". Biochimica et Biophysica Acta. 1262 (1): 64–8. PMID 7772601. doi:10.1016/0167-4781(95)00045-i. 
  7. ^ a b "Entrez Gene: RPS29 ribosomal protein S29". 
  8. ^ Mirabello L, Macari ER, Jessop L, Ellis SR, Myers T, Giri N, Taylor AM, McGrath KE, Humphries JM, Ballew BJ, Yeager M, Boland JF, He J, Hicks BD, Burdett L, Alter BP, Zon L, Savage SA (July 2014). "Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families". Blood. 124 (1): 24–32. PMID 24829207. doi:10.1182/blood-2013-11-540278. 

Further reading[edit]