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40S ribosomal protein S29

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
RPS29
Available structures
PDBOrtholog search:PDBeRCSB
List of PDB id codes

4UG0,4V6X,5A2Q,5AJ0,4KZY,4D61,5FLX,4KZX,4D5L,4V5Z,4UJD,4KZZ,4UJE,4UJC

Identifiers
AliasesRPS29, DBA13, S29, ribosomal protein S29, uS14
External IDsOMIM:603633;MGI:107681;HomoloGene:83197;GeneCards:RPS29;OMA:RPS29 - orthologs
Gene location (Human)
Chromosome 14 (human)
Chr.Chromosome 14 (human)[1]
Chromosome 14 (human)
Genomic location for RPS29
Genomic location for RPS29
Band14q21.3Start49,570,984bp[1]
End49,599,164bp[1]
Gene location (Mouse)
Chromosome 12 (mouse)
Chr.Chromosome 12 (mouse)[2]
Chromosome 12 (mouse)
Genomic location for RPS29
Genomic location for RPS29
Band12|12 C2Start69,204,496bp[2]
End69,205,960bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • caput epididymis

  • human penis

  • parietal pleura

  • mucosa of sigmoid colon

  • superficial temporal artery

  • granulocyte

  • nipple

  • ganglionic eminence

  • corpus epididymis

  • mucosa of transverse colon
Top expressed in
  • embryo

  • epiblast

  • uterus

  • yolk sac

  • embryo

  • blastocyst

  • neural tube

  • ganglionic eminence

  • ventricular zone

  • stomach
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

6235

20090

Ensembl

ENSG00000213741

ENSMUSG00000034892

UniProt

P62273

P62274

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 MbChr 12: 69.2 – 69.21 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

40S ribosomal protein S29 is aprotein that in humans is encoded by theRPS29gene.[5][6][7]

Function

[edit]

Ribosomes, theorganelles thatcatalyzeprotein synthesis, consist of asmall 40S subunit and alarge 60S subunit. Together these subunits are composed of 4RNA species and approximately 80 structurally distinct proteins. This gene encodes aribosomal 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-C2zinc finger-like domain that can bind tozinc, can enhance thetumor suppressor activity ofRas-related protein 1A (KREV1). It is located in thecytoplasm. Variable expression of this gene incolorectal 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 processedpseudogenes of this gene dispersed through the genome.[7]

Clinical significance

[edit]

Mutations in RPS29 causeDiamond–Blackfan anemia.[8]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000213741Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000034892Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  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 (BBA) - Molecular Cell Research.1313 (1):41–6.doi:10.1016/0167-4889(96)00052-3.PMID 8781548.
  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 (BBA) - Gene Structure and Expression.1262 (1):64–8.doi:10.1016/0167-4781(95)00045-i.PMID 7772601.
  7. ^ab"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.doi:10.1182/blood-2013-11-540278.PMC 4125351.PMID 24829207.

Further reading

[edit]
Proteins
Initiation factor
Bacterial
Mitochondrial
Archaeal
Eukaryotic
eIF1
eIF2
eIF3
eIF4
eIF5
eIF6
Elongation factor
Bacterial/Mitochondrial
Archaeal/Eukaryotic
Release factor
Ribosomal Proteins
Cytoplasmic
60S subunit
40S subunit
Mitochondrial
39S subunit
28S subunit
Other concepts
Archaea
(70S)
Bacteria
(70S)
Eukaryotes
Cytoplasmic (80S)
Mitochondrial (55S)
Chloroplast (70S)
Ribosomal proteins
(See article table)


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