Reviewed, UniProtKB/Swiss-Prot P39019 (RS19_HUMAN)

Names and origin

Protein names

Recommended name:
    40S ribosomal protein S19

Gene names

Name:

RPS19

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	145 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)

Function	Required for pre-rRNA processing and maturation of 40S ribosomal subunits.
Subunit structure	Interacts with RPS19BP1 By similarity.
Subcellular location	Nucleus. Note: Located more specifically in the nucleoli. Ref.14
Tissue specificity	Higher level expression is seen in the colon carcinoma tissue than normal colon tissue.
Involvement in disease	Defects in RPS19 are the cause of Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]. DBA1 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.
Sequence similarities	Belongs to the ribosomal protein S19e family.

Ontologies

Keywords
Cellular component	Nucleus
Disease	Disease mutation
Molecular function	Ribonucleoprotein Ribosomal protein
Technical term	Direct protein sequencing
Gene Ontology (GO)
Biological process	erythrocyte differentiation Inferred from mutant phenotype. Source: HGNC gas transport Ref.2 Inferred from mutant phenotype. Source: HGNC positive regulation of cell motion Traceable author statement. Source: HGNC rRNA processing Inferred from mutant phenotype. Source: UniProtKB response to extracellular stimulus Traceable author statement. Source: HGNC ribosomal small subunit biogenesis Inferred from mutant phenotype. Source: UniProtKB translational elongation Inferred from Experiment. Source: Reactome
Cellular component	cytosolic small ribosomal subunit Ref.2 Ref.4 Inferred from direct assay. Source: UniProtKB nucleolus Inferred from direct assay. Source: HGNC
Molecular function	RNA binding Ref.2 Traceable author statement. Source: ProtInc protein binding Inferred from physical interaction. Source: IntAct structural constituent of ribosome Ref.2 Inferred from direct assay. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
CNBP	P62633	1	EBI-354451,EBI-1047529
MAGEB2	O15479	1	EBI-354451,EBI-1057615
PINX1	Q96BK5	1	EBI-354451,EBI-721782

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed Ref.4 Ref.5
	Chain	2 – 145	144	40S ribosomal protein S19		PRO_0000153810
Natural variations
	Natural variant	9 – 14	6	Missing in DBA1.		VAR_055436
	Natural variant	15	1	V → F in DBA1; affects protein stability; does not localize to the nucleolus.		VAR_018438
	Natural variant	17	1	A → P in DBA1.		VAR_046145
	Natural variant	18 – 19	2	LA → E in DBA1.		VAR_055437
	Natural variant	18	1	L → P in DBA1; affects protein stability; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit.		VAR_018439
	Natural variant	18	1	L → R in DBA1.		VAR_046146
	Natural variant	21	1	F → S in DBA1.		VAR_055438
	Natural variant	47	1	P → L in DBA1; affects assembly into a functional ribosomal subunit.		VAR_018440
	Natural variant	52	1	W → C in DBA1.		VAR_055439
	Natural variant	52	1	W → R in DBA1; affects assembly into a functional ribosomal subunit.		VAR_018441
	Natural variant	55	1	T → M in DBA1.		VAR_018442
	Natural variant	56	1	R → Q in DBA1; affects assembly into a functional ribosomal subunit.		VAR_018437
	Natural variant	57	1	A → P in DBA1; affects protein stability; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit.		VAR_055440
	Natural variant	58 – 60	3	Missing in DBA1.		VAR_046147
	Natural variant	59	1	S → F in DBA1.		VAR_046148
	Natural variant	61	1	A → E in DBA1; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit.		VAR_018443
	Natural variant	62	1	R → Q in DBA1; affects assembly into a functional ribosomal subunit.		VAR_018444
	Natural variant	62	1	R → W in DBA1; increased protein degradation; affects assembly into a functional ribosomal subunit.		VAR_006924
	Natural variant	64	1	L → P in DBA1.		VAR_055441
	Natural variant	76	1	T → P in DBA1.		VAR_055442
	Natural variant	78 – 83	6	IYGGRQ → R in DBA1.		VAR_055443
	Natural variant	101	1	R → H in DBA1; increased protein degradation; affects assembly into a functional ribosomal subunit.		VAR_018445
	Natural variant	120	1	G → R in DBA1.		VAR_018446
	Natural variant	127	1	G → E in DBA1; affects protein stability; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit.		VAR_055444
	Natural variant	131	1	L → P in DBA1.		VAR_018447
	Natural variant	131	1	L → R in DBA1.		VAR_046149
	Natural variant	135	1	A → T in DBA1.		VAR_055445

Sequences

	Sequence		Length	Mass (Da)
	P39019-1 [UniParc]. Last modified January 23, 2007. Version 2. Checksum: 181F2DB898E56E41	FASTA	145	16,060
	10 20 30 40 50 60 MPGVTVKDVN QQEFVRALAA FLKKSGKLKV PEWVDTVKLA KHKELAPYDE NWFYTRAAST 70 80 90 100 110 120 ARHLYLRGGA GVGSMTKIYG GRQRNGVMPS HFSRGSKSVA RRVLQALEGL KMVEKDQDGG 130 140 RKLTPQGQRD LDRIAGQVAA ANKKH

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Differential expression of S19 ribosomal protein, laminin-binding protein, and human lymphocyte antigen class I messenger RNAs associated with colon carcinoma progression and differentiation." Kondoh N., Schweinfest C.W., Henderson K.W., Papas T.S. Cancer Res. 52:791-796(1992) [PubMed: 1339304] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia." Draptchinskaia N., Gustavsson P., Andersson B., Pettersson M., Willig T.-N.D., Dianzani I., Ball S., Tchernia G., Klar J., Matsson H., Tentler D., Mohandas N., Carlsson B., Dahl N. Nat. Genet. 21:169-175(1999) [PubMed: 9988267] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS DBA1 ARG-52 AND TRP-62.
[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]. Tissue: Colon, Eye and Placenta.
[4]	"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 2-11. Tissue: Placenta.
[5]	Bienvenut W.V., Calvo F., Kolch W. Submitted (FEB-2008) to UniProtKB Cited for: PROTEIN SEQUENCE OF 2-24; 30-38; 83-94; 102-111 AND 134-145, CLEAVAGE OF INITIATOR METHIONINE, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[6]	"A map of 75 human ribosomal protein genes." Kenmochi N., Kawaguchi T., Rozen S., Davis E., Goodman N., Hudson T.J., Tanaka T., Page D.C. Genome Res. 8:509-523(1998) [PubMed: 9582194] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 120-137.
[7]	"Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature." Campagnoli M.F., Garelli E., Quarello P., Carando A., Varotto S., Nobili B., Longoni D., Pecile V., Zecca M., Dufour C., Ramenghi U., Dianzan I. Haematologica 89:480-489(2004) [PubMed: 15075082] [Abstract] Cited for: REVIEW ON DBA1 VARIANTS.
[8]	"Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits." Flygare J., Aspesi A., Bailey J.C., Miyake K., Caffrey J.M., Karlsson S., Ellis S.R. Blood 109:980-986(2007) [PubMed: 16990592] [Abstract] Cited for: FUNCTION.
[9]	"Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome." Angelini M., Cannata S., Mercaldo V., Gibello L., Santoro C., Dianzani I., Loreni F. Hum. Mol. Genet. 16:1720-1727(2007) [PubMed: 17517689] [Abstract] Cited for: SUBCELLULAR LOCALIZATION, CHARACTERIZATION OF VARIANTS DBA1 PHE-15; PRO-18; LEU-47; ARG-52; GLN-56; PRO-57; GLU-61; GLN-62; TRP-62; HIS-101 AND ARG-120.
[10]	"RPS19 mutations in patients with Diamond-Blackfan anemia." Campagnoli M.F., Ramenghi U., Armiraglio M., Quarello P., Garelli E., Carando A., Avondo F., Pavesi E., Fribourg S., Gleizes P.E., Loreni F., Dianzani I. Hum. Mutat. 29:911-920(2008) [PubMed: 18412286] [Abstract] Cited for: REVIEW ON VARIANTS DBA1.
[11]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[12]	"Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression." Willig T.-N.D., Draptchinskaia N., Dianzani I., Ball S., Niemeyer C., Ramenghi U., Orfali K., Gustavsson P., Garelli E., Brusco A., Tiemann C., Perignon J.L., Bouchier C., Cicchiello L., Dahl N., Mohandas N., Tchernia G. Blood 94:4294-4306(1999) [PubMed: 10590074] [Abstract] Cited for: VARIANTS DBA1 PHE-15; GLN-56; GLU-61; TRP-62; HIS-101 AND ARG-120.
[13]	"Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population." Ramenghi U., Campagnoli M.F., Garelli E., Carando A., Brusco A., Bagnara G.P., Strippoli P., Izzi G.C., Brandalise S., Riccardi R., Dianzani I. Blood Cells Mol. Dis. 26:417-422(2000) [PubMed: 11112378] [Abstract] Cited for: VARIANTS DBA1 PRO-18; LEU-47 AND TRP-62.
[14]	"Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology." Da Costa L., Tchernia G., Gascard P., Lo A., Meerpohl J., Niemeyer C., Chasis J.-A., Fixler J., Mohandas N. Blood 101:5039-5045(2003) [PubMed: 12586610] [Abstract] Cited for: VARIANTS DBA1 PHE-15 AND MET-55, SUBCELLULAR LOCATION.
[15]	"Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene." Proust A., Da Costa L., Rince P., Landois A., Tamary H., Zaizov R., Tchernia G., Delaunay J. Hematol. J. 4:132-136(2003) [PubMed: 12750732] [Abstract] Cited for: VARIANTS DBA1 GLN-62 AND PRO-131.
[16]	"RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations." Gazda H.T., Zhong R., Long L., Niewiadomska E., Lipton J.M., Ploszynska A., Zaucha J.M., Vlachos A., Atsidaftos E., Viskochil D.H., Niemeyer C.M., Meerpohl J.J., Rokicka-Milewska R., Pospisilova D., Wiktor-Jedrzejczak W., Nathan D.G., Beggs A.H., Sieff C.A. Br. J. Haematol. 127:105-113(2004) [PubMed: 15384984] [Abstract] Cited for: VARIANTS DBA1 ARG-18; GLN-56; 58-ALA--THR-60 DEL; PHE-59; GLN-62; HIS-101 AND ARG-131.
[17]	Pereira J.C., Fiskerstrand T., Ribeiro M.L. Hum. Genet. 115:349-349(2004) Cited for: VARIANT DBA1 PRO-17.
+	Additional computationally mapped references.

Web resources

GeneReviews

Diamond-Blackfan Anemia mutation database

Cross-references

Sequence databases
EMBLGenBankDDBJ	M81757 mRNA. Translation: AAA89070.1. AF092907, AF092906 Genomic DNA. Translation: AAD13668.1. BC000023 mRNA. Translation: AAH00023.1. BC007615 mRNA. Translation: AAH07615.1. BC018616 mRNA. Translation: AAH18616.1. AB007155 Genomic DNA. Translation: BAA28593.1.
IPI	IPI00215780.
PIR	I52692.
RefSeq	NP_001013.1.
UniGene	Hs.438429
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	P39019. 11 interactions.
PTM databases
PhosphoSite	P39019.
Proteomic databases
PeptideAtlas	P39019.
PRIDE	P39019.
Genome annotation databases
Ensembl	ENSG00000105372. Homo sapiens. [Contig view]
GeneID	6223.
KEGG	hsa:6223.
Organism-specific databases
GeneCards	GC14M034107. GC19P047055.
H-InvDB	HIX0015162.
HGNC	HGNC:10402. RPS19.
MIM	105650. phenotype. 603474. gene.
Orphanet	124. Blackfan-Diamond disease.
PharmGKB	PA31006.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	P39019.
OMA	P39019. FYIRAAS.
Enzyme and pathway databases
Reactome	REACT_1762. 3' -UTR-mediated translational regulation. REACT_6167. Influenza Infection. REACT_71. Gene Expression.
Gene expression databases
ArrayExpress	P39019.
Bgee	P39019.
CleanEx	HS_RPS19.
GermOnline	ENSG00000105372. Homo sapiens.
Family and domain databases
InterPro	IPR001266. Ribosomal_S19e. IPR018277. Ribosomal_S19e_CS. [Graphical view]
PANTHER	PTHR11710. Ribosomal_S19E. 1 hit.
Pfam	PF01090. Ribosomal_S19e. 1 hit. [Graphical view]
ProDom	PD003854. Ribosomal_S19E. 1 hit. [Graphical view] [Entries sharing at least one domain]
PROSITE	PS00628. RIBOSOMAL_S19E. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	24159.
SOURCE	Search...

Entry information

Entry name

RS19_HUMAN

Accession

Primary (citable) accession number: P39019

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 1995
Last sequence update:	January 23, 2007
Last modified:	June 16, 2009
This is version 88 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)