P62847 (RS24_HUMAN) Reviewed, UniProtKB/Swiss-Prot

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.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Required for processing of pre-rRNA and maturation of 40S ribosomal subunits. Ref.12
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. Ref.10
Involvement in disease	Defects in RPS24 are the cause of Diamond-Blackfan anemia type 3 (DBA3) [MIM:610629]. DBA3 is 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. Ref.10
Sequence similarities	Belongs to the ribosomal protein S24e family.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
Disease	Diamond-Blackfan anemia
Molecular function	Ribonucleoprotein Ribosomal protein
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological process	endocrine pancreas development Traceable author statement. Source: Reactome erythrocyte homeostasis Inferred from mutant phenotype Ref.10Ref.12. Source: UniProtKB mRNA metabolic process Traceable author statement. Source: Reactome maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) Inferred from Biological aspect of Ancestor. Source: RefGenome translational elongation Traceable author statement. Source: Reactome translational termination Traceable author statement. Source: Reactome viral transcription Traceable author statement. Source: Reactome
Cellular component	cytosolic small ribosomal subunit Inferred from direct assay Ref.9. Source: UniProtKB nucleolus Inferred from Biological aspect of Ancestor. Source: RefGenome
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 3 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.

Isoform 3 (identifier: P62847-3)

The sequence of this isoform differs from the canonical sequence as follows:
     131-133: PKE → KK

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 Ref.8 Ref.13
	Modified residue	4	1	Phosphothreonine Ref.11
	Modified residue	37	1	N6-acetyllysine Ref.14
	Modified residue	81	1	Phosphotyrosine By similarity
Natural variations
	Alternative sequence	131 – 133	3	Missing in isoform 2.		VSP_005724
	Alternative sequence	131 – 133	3	PKE → KK in isoform 3.		VSP_039113

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	FASTA	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
	Isoform 3 [UniParc]. Checksum: 107190764D60A6DD	FASTA	132	15,325
	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 KK

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]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Thymus.
[4]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Retina.
[5]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [PubMed: 15164054] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	"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.
[8]	Quadroni M. Submitted (OCT-2004) to UniProtKB Cited for: PROTEIN SEQUENCE OF 1-8; 50-61; 69-83 AND 119-132, ACETYLATION AT MET-1, MASS SPECTROMETRY. Tissue: B-cell lymphoma.
[9]	"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.
[10]	"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.
[11]	"Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis." Wang B., Malik R., Nigg E.A., Korner R. Anal. Chem. 80:9526-9533(2008) [PubMed: 19007248] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT MET-1 AND THR-4, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[12]	"Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder." Choesmel V., Fribourg S., Aguissa-Toure A.H., Pinaud N., Legrand P., Gazda H.T., Gleizes P.E. Hum. Mol. Genet. 17:1253-1263(2008) [PubMed: 18230666] [Abstract] Cited for: FUNCTION.
[13]	"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, MASS SPECTROMETRY. Tissue: Embryonic kidney.
[14]	"Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed: 19608861] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-37, MASS SPECTROMETRY.
[15]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Web resources

Diamond-Blackfan Anemia mutation database

Cross-references

Sequence databases
EMBL GenBank DDBJ	M31520 mRNA. Translation: AAA36588.1. U12202 Genomic DNA. Translation: AAB08007.1. U12202 Genomic DNA. Translation: AAB08006.1. AK311910 mRNA. Translation: BAG34851.1. BX537975 mRNA. Translation: CAD97939.1. AL512628 Genomic DNA. Translation: CAI16468.1. CH471083 Genomic DNA. Translation: EAW54625.1. BC000523 mRNA. Translation: AAH00523.1. BC003149 mRNA. No translation available. BC071926 mRNA. Translation: AAH71926.1.
IPI	IPI00029750. IPI00847986. IPI00915463.
PIR	JC4671. JH0213.
RefSeq	NP_001017.1. NM_001026.4. NP_001135755.1. NM_001142283.1. NP_148982.1. NM_033022.3.
UniGene	Hs.280130.
3D structure databases
ProteinModelPortal	P62847.
SMR	P62847. Positions 5-96.
ModBase	Search...
Protein-protein interaction databases
IntAct	P62847. 13 interactions.
MINT	MINT-5000250.
STRING	P62847.
PTM databases
PhosphoSite	P62847.
Polymorphism databases
DMDM	51338645.
Proteomic databases
PRIDE	P62847.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000372360; ENSP00000361435; ENSG00000138326. ENST00000401656; ENSP00000384056; ENSG00000138326.
GeneID	6229.
KEGG	hsa:6229.
UCSC	uc001jzq.1. human.
Organism-specific databases
CTD	6229.
GeneCards	GC10P079793.
HGNC	HGNC:10411. RPS24.
HPA	HPA003364.
MIM	602412. gene. 610629. phenotype.
neXtProt	NX_P62847.
Orphanet	124. Blackfan-Diamond disease.
PharmGKB	PA34815.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG19916.
HOVERGEN	HBG000969.
InParanoid	P62847.
OrthoDB	EOG4PVP11.
PhylomeDB	P62847.
Enzyme and pathway databases
Reactome	REACT_111045. Developmental Biology. REACT_111217. Metabolism. REACT_15380. Diabetes pathways. REACT_17015. Metabolism of proteins. REACT_1762. 3' -UTR-mediated translational regulation. REACT_6167. Influenza Infection. REACT_71. Gene Expression.
Gene expression databases
ArrayExpress	P62847.
Bgee	P62847.
CleanEx	HS_RPS24.
Genevestigator	P62847.
GermOnline	ENSG00000138326. Homo sapiens.
Family and domain databases
InterPro	IPR012677. Nucleotide-bd_a/b_plait. IPR012678. Ribosomal_L23/L15e_core_dom. IPR001976. Ribosomal_S24e. IPR018098. Ribosomal_S24e_CS. [Graphical view]
Gene3D	G3DSA:3.30.70.330. a_b_plait_nuc_bd. 1 hit.
KO	K02974.
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]
SUPFAM	SSF54189. L23_L15e_core. 1 hit.
PROSITE	PS00529. RIBOSOMAL_S24E. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	24179.
SOURCE	Search...

Entry information

Entry name

RS24_HUMAN

Accession

Primary (citable) accession number: P62847
Secondary accession number(s): P16632, Q5T0P7, Q7Z3D1

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 16, 2004
Last sequence update:	August 16, 2004
Last modified:	January 25, 2012
This is version 90 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.