P08708 (RS17_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
40S ribosomal protein S17

Gene names

Name:

RPS17

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	135 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Involvement in disease

Diamond-Blackfan anemia 4 (DBA4) [MIM:612527]: 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 developing leukemia. 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8 Ref.9

Sequence similarities

Belongs to the ribosomal protein S17e family.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Disease	Diamond-Blackfan anemia
Molecular function	Ribonucleoprotein Ribosomal protein
PTM	Phosphoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	SRP-dependent cotranslational protein targeting to membrane Traceable author statement. Source: Reactome erythrocyte homeostasis Inferred from mutant phenotype Ref.8. Source: UniProtKB nuclear-transcribed mRNA catabolic process, nonsense-mediated decay Traceable author statement. Source: Reactome rRNA processing Inferred from mutant phenotype PubMed 18697920. Source: UniProtKB ribosomal small subunit assembly Inferred from Biological aspect of Ancestor. Source: RefGenome translational elongation Inferred from sequence or structural similarity. Source: RefGenome translational initiation Non-traceable author statement Ref.8. Source: UniProtKB translational termination Traceable author statement. Source: Reactome viral transcription Traceable author statement. Source: Reactome
Cellular_component	cytosolic small ribosomal subunit Inferred from direct assay PubMed 15883184Ref.7. Source: UniProtKB
Molecular_function	structural constituent of ribosome Non-traceable author statement Ref.8PubMed 18412286. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed Ref.7
	Chain	2 – 135	134	40S ribosomal protein S17 HAMAP-Rule MF_00511		PRO_0000141525
Amino acid modifications
	Modified residue	113	1	Phosphoserine Ref.10 Ref.12 Ref.13 Ref.15
	Modified residue	130	1	Phosphothreonine Ref.10 Ref.13
Natural variations
	Natural variant	36	1	E → K. Corresponds to variant rs1043734 [ dbSNP | Ensembl ].		VAR_034478

Sequences

	Sequence		Length	Mass (Da)
	P08708 [UniParc]. Last modified January 23, 2007. Version 2. Checksum: 299AD605C5401325	FASTA	135	15,550
	10 20 30 40 50 60 MGRVRTKTVK KAARVIIEKY YTRLGNDFHT NKRVCEEIAI IPSKKLRNKI AGYVTHLMKR 70 80 90 100 110 120 IQRGPVRGIS IKLQEEERER RDNYVPEVSA LDQEIIEVDP DTKEMLKLLD FGSLSNLQVT 130 QPTVGMNFKT PRGPV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Homologous ribosomal proteins in bacteria, yeast, and humans." Chen I.-T., Dixit A., Rhoads D.D., Roufa D.J. Proc. Natl. Acad. Sci. U.S.A. 83:6907-6911(1986) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"The transcriptionally active human ribosomal protein S17 gene." Chen I.-T., Roufa D.J. Gene 70:107-116(1988) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Thymus.
[4]	"Analysis of the DNA sequence and duplication history of human chromosome 15." Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C. Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	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].
[6]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: B-cell, Kidney, Lung, Pancreas, Prostate and Salivary gland.
[7]	"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] [Europe PMC] [Abstract] Cited for: PROTEIN SEQUENCE OF 2-16. Tissue: Placenta.
[8]	"Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia." Cmejla R., Cmejlova J., Handrkova H., Petrak J., Pospisilova D. Hum. Mutat. 28:1178-1182(2007) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN DBA4.
[9]	"Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients." Gazda H.T., Sheen M.R., Vlachos A., Choesmel V., O'Donohue M.-F., Schneider H., Darras N., Hasman C., Sieff C.A., Newburger P.E., Ball S.E., Niewiadomska E., Matysiak M., Zaucha J.M., Glader B., Niemeyer C., Meerpohl J.J., Atsidaftos E. , Lipton J.M., Gleizes P.-E., Beggs A.H. Am. J. Hum. Genet. 83:769-780(2008) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN DBA4.
[10]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-113 AND THR-130, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[11]	"Large-scale proteomics analysis of the human kinome." Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H. Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[12]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-113, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[13]	"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-113 AND THR-130, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[14]	"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] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[15]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-113, MASS SPECTROMETRY.
+	Additional computationally mapped references.

Web resources

Diamond-Blackfan Anemia mutation database

Cross-references

Sequence databases
EMBL GenBank DDBJ	M13932 mRNA. Translation: AAA60284.1. M18000 Genomic DNA. Translation: AAA60285.1. AK026570 mRNA. Translation: BAB15501.1. AK311951 mRNA. Translation: BAG34891.1. AC135995 Genomic DNA. No translation available. CH471188 Genomic DNA. Translation: EAW62454.1. BC009407 mRNA. Translation: AAH09407.1. BC019899 mRNA. Translation: AAH19899.1. BC022370 mRNA. Translation: AAH22370.1. BC049824 mRNA. Translation: AAH49824.1. BC070222 mRNA. Translation: AAH70222.1. BC062715 mRNA. Translation: AAH62715.1. BC071928 mRNA. Translation: AAH71928.1.
IPI	IPI00221093.
PIR	R4HU17. JT0405.
RefSeq	NP_001012.1. NM_001021.3. NP_001185986.1. NM_001199057.1.
UniGene	Hs.433427.
3D structure databases
ProteinModelPortal	P08708.
ModBase	Search...
Protein-protein interaction databases
IntAct	P08708. 13 interactions.
MINT	MINT-5002404.
STRING	9606.ENSP00000346045.
PTM databases
PhosphoSite	P08708.
Polymorphism databases
DMDM	133825.
Proteomic databases
PaxDb	P08708.
PRIDE	P08708.
Protocols and materials databases
DNASU	6218.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000330339; ENSP00000346045; ENSG00000184779.
GeneID	100505503. 6218.
KEGG	hsa:100505503. hsa:6218.
Organism-specific databases
CTD	100505503. 6218.
GeneCards	GC15M082821.
HGNC	HGNC:10397. RPS17.
HPA	HPA055060.
MIM	180472. gene. 612527. phenotype.
neXtProt	NX_P08708.
Orphanet	124. Blackfan-Diamond disease.
PharmGKB	PA34797.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1383.
HOGENOM	HOG000227166.
HOVERGEN	HBG001708.
InParanoid	P08708.
KO	K02962.
OrthoDB	EOG41JZDM.
PhylomeDB	P08708.
Enzyme and pathway databases
Reactome	REACT_116125. Disease. REACT_17015. Metabolism of proteins. REACT_1762. 3' -UTR-mediated translational regulation. REACT_21257. Metabolism of RNA. REACT_71. Gene Expression.
Gene expression databases
ArrayExpress	P08708.
Bgee	P08708.
CleanEx	HS_RPS17.
Genevestigator	P08708.
GermOnline	ENSG00000182774. Homo sapiens. ENSG00000184779. Homo sapiens.
Family and domain databases
Gene3D	1.10.60.20. 1 hit.
HAMAP	MF_00511. Ribosomal_S17e.
InterPro	IPR001210. Ribosomal_S17e. IPR018273. Ribosomal_S17e_CS. [Graphical view]
PANTHER	PTHR10732. PTHR10732. 1 hit.
Pfam	PF00833. Ribosomal_S17e. 1 hit. [Graphical view]
SUPFAM	SSF116820. SSF116820. 1 hit.
PROSITE	PS00712. RIBOSOMAL_S17E. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	24145.
SOURCE	Search...

Entry information

Entry name

RS17_HUMAN

Accession

Primary (citable) accession number: P08708
Secondary accession number(s): B2R4U4

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 1, 1988
Last sequence update:	January 23, 2007
Last modified:	May 1, 2013
This is version 132 of the entry and version 2 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.