Reviewed, UniProtKB/Swiss-Prot P62847 (RS24_HUMAN)

Names and origin

Protein names

Recommended name:
    40S ribosomal protein S24

Gene names

Name:

RPS24

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	133 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence 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.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
Molecular function	Ribonucleoprotein Ribosomal protein
PTM	Acetylation Phosphoprotein
Technical term	Direct protein sequencing
Gene Ontology (GO)
Biological process	erythrocyte homeostasis Ref.6 Inferred from mutant phenotype. Source: UniProtKB rRNA processing Inferred from mutant phenotype. Source: UniProtKB ribosomal small subunit biogenesis Inferred from mutant phenotype. Source: UniProtKB translational elongation Inferred from Experiment. Source: Reactome
Cellular component	cytosolic small ribosomal subunit Ref.5 Inferred from direct assay. Source: UniProtKB nucleus Inferred from direct assay. Source: HPA
Molecular function	nucleotide binding Inferred from electronic annotation. Source: InterPro structural constituent of ribosome Non-traceable author statement. Source: UniProtKB translation initiation factor binding Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 133	133	40S ribosomal protein S24		PRO_0000137623
Amino acid modifications
	Modified residue	1	1	N-acetylmethionine
	Modified residue	81	1	Phosphotyrosine By similarity
Natural variations
	Alternative sequence	131 – 133	3	Missing in isoform 2.		VSP_005724

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified August 16, 2004. Version 1. Checksum: CE9065C0764D60A6	FASTA	133	15,423
	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
	Isoform 2 [UniParc] [UniParc]. Checksum: E0764D60A6DD576E		130	15,069
	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

References

	« Hide 'large scale' referencesShow '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. , 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
EMBLGenBankDDBJ	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.
PIR	JC4671. JH0213.
RefSeq	NP_001017.1. NP_148982.1.
UniGene	Hs.356794
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	P62847.
Genome annotation databases
Ensembl	ENSG00000138326. Homo sapiens. [Contig view]
GeneID	6229.
KEGG	hsa:6229.
Organism-specific databases
H-InvDB	HIX0008962. HIX0080948.
HGNC	HGNC:10411. RPS24.
HPA	HPA003364.
MIM	602412. gene. 610629. phenotype.
Orphanet	124. Blackfan-Diamond disease.
PharmGKB	PA31012.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	P62847.
HOVERGEN	P62847.
Enzyme and pathway databases
Reactome	REACT_1762. 3' -UTR-mediated translational regulation. REACT_6167. Influenza Infection. REACT_71. Gene Expression.
Gene expression databases
ArrayExpress	P62847.
CleanEx	HS_RPS24.
GermOnline	ENSG00000138326. Homo sapiens.
Family and domain databases
InterPro	IPR012677. a_b_plait_nuc_bd. IPR001976. Ribosomal_S24e. [Graphical view]
Gene3D	G3DSA:3.30.70.330. a_b_plait_nuc_bd. 1 hit.
PANTHER	PTHR10496. Ribosomal_S24E. 1 hit.
Pfam	PF01282. Ribosomal_S24e. 1 hit. [Graphical view]
ProDom	PD006052. Ribosomal_S24E. 1 hit. [Graphical view] [Entries sharing at least one domain]
PROSITE	PS00529. RIBOSOMAL_S24E. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
LinkHub	P62847.
NextBio	24179.
SOURCE	Search...

Entry information

Entry name

RS24_HUMAN

Accession

Primary (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 status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)