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Reviewed, UniProtKB/Swiss-Prot P62847 (RS24_HUMAN)

Last modified November 25, 2008. Version 51. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    40S ribosomal protein S24
Gene names
Name: RPS24
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length133 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Tissue specificity

Mature tissues, such as adult brain, skeletal muscle, heart, and kidney, express low levels, whereas tissues and organs with significant populations of proliferating cells, such as fetal brain, placenta, bone marrow, and various glandular organs, contain significantly higher levels.

Involvement in disease

Defects in RPS24 are the cause of Diamond-Blackfan anemia type 3 (DBA3) [MIM:610629]. Diamond-Blackfan anemia is a congenital erythroid aplasia that usually presents in infancy. Approximately 30 to 40% of patients have other congenital anomalies, particularly of the upper limb and craniofacial regions. Although the majority of Diamond-Blackfan anemia cases are sporadic, approximately 10 to 25% are familial, with most showing autosomal dominant inheritance.

Sequence similarities

Belongs to the ribosomal protein S24e family.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P62847-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: P62847-2)

The sequence of this isoform differs from the canonical sequence as follows:
     131-133: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 13313340S ribosomal protein S24
PRO_0000137623

Amino acid modifications

Modified residue11N-acetylmethionine
Modified residue811Phosphotyrosine By similarity

Natural variations

Alternative sequence131 – 1333Missing in isoform 2.
VSP_005724

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified August 16, 2004. Version 1.
Checksum: CE9065C0764D60A6

FASTA13315,423
        10         20         30         40         50         60 
MNDTVTIRTR KFMTNRLLQR KQMVIDVLHP GKATVPKTEI REKLAKMYKT TPDVIFVFGF 

        70         80         90        100        110        120 
RTHFGGGKTT GFGMIYDSLD YAKKNEPKHR LARHGLYEKK KTSRKQRKER KNRMKKVRGT 

       130 
AKANVGAGKK PKE 

« Hide

Isoform 2 [UniParc] [UniParc].

Checksum: E0764D60A6DD576E
Show »

13015,069

References

« Hide 'large scale' references
[1]"A cDNA encoding human ribosomal protein S24."
Brown S.J., Jewell A., Maki C.G., Roufa D.J.
Gene 91:293-296(1990) [PubMed: 2210388] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"The gene encoding human ribosomal protein S24 and tissue-specific expression of differentially spliced mRNAs."
Xu W.-B., Roufa D.J.
Gene 169:257-262(1996) [PubMed: 8647458] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING.
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Kidney and Muscle.
[4]Quadroni M.
Unpublished observations (OCT-2004)
Cited for: PROTEIN SEQUENCE OF 1-8; 50-61; 69-83 AND 119-132, ACETYLATION AT MET-1, MASS SPECTROMETRY.
Tissue: B-cell lymphoma.
[5]"Characterization of the human small-ribosomal-subunit proteins by N-terminal and internal sequencing, and mass spectrometry."
Vladimirov S.N., Ivanov A.V., Karpova G.G., Musolyamov A.K., Egorov T.A., Thiede B., Wittmann-Liebold B., Otto A.
Eur. J. Biochem. 239:144-149(1996) [PubMed: 8706699] [Abstract]
Cited for: PROTEIN SEQUENCE OF 69-83.
Tissue: Placenta.
[6]"Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia."
Gazda H.T., Grabowska A., Merida-Long L.B., Latawiec E., Schneider H.E., Lipton J.M., Vlachos A., Atsidaftos E., Ball S.E., Orfali K.A., Niewiadomska E., Da Costa L., Tchernia G., Niemeyer C., Meerpohl J.J., Stahl J., Schratt G., Glader B. expand/collapse author list , Backer K., Wong C., Nathan D.G., Beggs A.H., Sieff C.A.
Am. J. Hum. Genet. 79:1110-1118(2006) [PubMed: 17186470] [Abstract]
Cited for: INVOLVEMENT IN DBA3, TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

M31520 mRNA. Translation: AAA36588.1.
U12202 Genomic DNA. Translation: AAB08007.1.
U12202 Genomic DNA. Translation: AAB08006.1.
BC000523 mRNA. Translation: AAH00523.1.
BC003149 mRNA. No translation available.
BC071926 mRNA. Translation: AAH71926.1.
PIRJC4671.
JH0213.
RefSeqNP_001017.1.
NP_148982.1.
UniGeneHs.356794

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

IntActP62847.

Genome annotation databases

EnsemblENSG00000138326. Homo sapiens. [Contig view]
GeneID6229.
KEGGhsa:6229.

Organism-specific databases

H-InvDBHIX0008962.
HIX0080948.
HGNCHGNC:10411. RPS24.
HPAHPA003364.
MIM602412. gene.
610629. phenotype.
Orphanet124. Blackfan-Diamond disease.
PharmGKBPA31012.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOGENOMP62847.
HOVERGENP62847.

Enzyme and pathway databases

ReactomeREACT_1762. 3' -UTR-mediated translational regulation.
REACT_6167. Influenza Infection.
REACT_71. Gene Expression.

Gene expression databases

ArrayExpressP62847.
CleanExHS_RPS24.
GermOnlineENSG00000138326. Homo sapiens.

Family and domain databases

InterProIPR012677. a_b_plait_nuc_bd.
IPR001976. Ribosomal_S24e.
[Graphical view]
Gene3DG3DSA:3.30.70.330. a_b_plait_nuc_bd. 1 hit.
PANTHERPTHR10496. Ribosomal_S24E. 1 hit.
PfamPF01282. Ribosomal_S24e. 1 hit.
[Graphical view]
ProDomPD006052. Ribosomal_S24E. 1 hit.
[Graphical view] [Entries sharing at least one domain]
PROSITEPS00529. RIBOSOMAL_S24E. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

LinkHubP62847.
NextBio24179.
SOURCESearch...

Entry information

Entry nameRS24_HUMAN
AccessionPrimary (citable) accession number: P62847
Secondary accession number(s): P16632
Entry history
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: August 16, 2004
Last modified: November 25, 2008
This is version 51 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Ribosomal proteins

Ribosomal proteins families and list of entries

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents