RPS19 - ribosomal protein S19 Gene

Also Known as DBA; S19; DBA1; eS19; LOH19CR1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6223

About RPS19

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:41,860,255-41,872,925 (from NCBI)

This gene has 8 transcripts (splice variants), 230 orthologues and is associated with 3 phenotypes. Ubiquitous expression in ovary (RPKM 359.5), lymph node (RPKM 249.2) and 25 other tissues.

Summary

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19E family of ribosomal proteins. It is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia (DBA), a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors, in a subset of patients. This suggests a possible extra-ribosomal function for this gene in erythropoietic differentiation and proliferation, in addition to its ribosomal function. Higher expression levels of this gene in some primary colon carcinomas compared to matched normal colon tissues has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

RPS19 Products (4)

mRNA	Protein	Name
NM_001022.4	NP_001013.1	40S ribosomal protein S19 isoform 1
NM_001321483.2	NP_001308412.1	40S ribosomal protein S19 isoform 1
NM_001321484.2	NP_001308413.1	40S ribosomal protein S19 isoform 1
NM_001321485.2	NP_001308414.1	40S ribosomal protein S19 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables fibroblast growth factor binding	IPI IPI: Inferred from physical interaction	11716516	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	11226885	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16266891	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	16266891	GOA
enables structural constituent of ribosome	IDA IDA: Inferred from direct assay	23636399	GOA
enables structural constituent of ribosome	IMP IMP: Inferred from mutant phenotype	18697920	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in antimicrobial humoral immune response mediated by antimicrobial peptide	IDA IDA: Inferred from direct assay	15019208	GOA
involved in defense response to Gram-negative bacterium	IDA IDA: Inferred from direct assay	15019208	GOA
acts upstream of erythrocyte differentiation	IMP IMP: Inferred from mutant phenotype	16289379	GOA
involved in killing of cells of another organism	IDA IDA: Inferred from direct assay	15019208	GOA
involved in maturation of SSU-rRNA	IMP IMP: Inferred from mutant phenotype	16990592	GOA
involved in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IMP IMP: Inferred from mutant phenotype	16990592	GOA
involved in monocyte chemotaxis	IDA IDA: Inferred from direct assay	11226885	GOA
involved in negative regulation of respiratory burst involved in inflammatory response	IDA IDA: Inferred from direct assay	15750715	GOA
involved in nucleolus organization	IMP IMP: Inferred from mutant phenotype	17053056	GOA
involved in positive regulation of respiratory burst involved in inflammatory response	IDA IDA: Inferred from direct assay	15750715	GOA
involved in rRNA processing	IMP IMP: Inferred from mutant phenotype	18697920	GOA
involved in ribosomal small subunit assembly	IMP IMP: Inferred from mutant phenotype	17053056	GOA
involved in ribosomal small subunit biogenesis	IDA IDA: Inferred from direct assay	34516797	GOA
involved in ribosomal small subunit biogenesis	IMP IMP: Inferred from mutant phenotype	18697920	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	17517689	GOA
located in cytosol	IDA IDA: Inferred from direct assay	11716516	GOA
located in cytosolic ribosome	IDA IDA: Inferred from direct assay	23636399	GOA
part of cytosolic small ribosomal subunit	IDA IDA: Inferred from direct assay	8706699	GOA
located in nucleolus	IDA IDA: Inferred from direct assay	12586610	GOA
is active in postsynaptic density	EXP EXP: Inferred from Experiment	21170055	GOA
is active in postsynaptic density	IDA IDA: Inferred from direct assay	21170055	GOA
located in ribosome	IDA IDA: Inferred from direct assay	17517689	GOA
part of small-subunit processome	IDA IDA: Inferred from direct assay	34516797	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RPS19 Protein Structure

Ribosomal_S19e

0
100
145 a.a.

Protein Preferred Names	Protein Names
40S ribosomal protein S19	loss of heterozygosity on chromosome 19, region 1

RPS19 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	RPS19	P39019	RPS16	Homo sapiens	P62249	Crosslink	30021884
Intra	RPS19	P39019	HTT	Homo sapiens	P42858	Validated Y2H	32814053
Intra	RPS19	P39019	HTT	Homo sapiens	P42858	Y2H Array	32814053
Intra	RPS19	P39019	HTT	Homo sapiens	P42858	Y2H Pooling	32814053
Intra	RPS19	P39019	H1-5	Homo sapiens	P16401	Crosslink	30021884
Intra	RPS19	P39019	PIM1	Homo sapiens	P11309	In Gel Kinase Assay	16266891
Intra	RPS19	P39019	PIM1	Homo sapiens	P11309	Y2H	16266891
Intra	RPS19	P39019	PIM1	Homo sapiens	P11309	Pull Down	16266891
Intra	RPS19	P39019	PIM1	Homo sapiens	P11309	Anti Bait CoIP	16266891
Intra	RPS19	P39019	SPG21	Homo sapiens	Q9NZD8	Y2H Array	32296183
Intra	RPS19	P39019	SPG21	Homo sapiens	Q9NZD8	Y2H Prey Pooling	32296183
Intra	RPS19	P39019	SPG21	Homo sapiens	Q9NZD8	Validated Y2H	32296183
Intra	RPS19	P39019	ATXN1	Homo sapiens	P54253	Y2H Array	32814053
Intra	RPS19	P39019	ATXN1	Homo sapiens	P54253	Y2H Pooling	32814053
Intra	RPS19	P39019	ATXN1	Homo sapiens	P54253	Validated Y2H	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant RPS19 Proteins

Art. -Nr.	Produktname	Accession	Reinheit
HY-P71265	RPS19 Protein, Human	P39019 (P2-H145)	≥ 95%, as determined by reducing SDS-PAGE.

RPS19 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P82007	RPS19 Antibody (YA1752)	WB, IHC-P, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Diamond-Blackfan Anemia 1	Aase Syndrome DBA1 Erythrogenesis Imperfecta Aase-Smith Syndrome Ii Dba Blackfan-Diamond Syndrome Bds Anemia, Congenital Hypoplastic, Of Blackfan And Diamond Anemia, Congenital Erythroid Hypoplastic Red Cell Aplasia, Pure, Hereditary Aregenerative Anemia, Chronic Congenital Rps19-Related Diamond-Blackfan Anemia Chronic Congenital Aregenerative Anemia Congenital Erythroid Hypoplastic Anemia Congenital Hypoplastic Anemia Of Blackfan And Diamond Pure Hereditary Red Cell Aplasia Anemia, Diamond-Blackfan, Type 1 Anemia, Diamond-Blackfan Aase Smith Syndrome 2 Familial Hypoplastic Anaemia With Malformations Constitutional Pure Red Cell Aplasia
Diamond-Blackfan Anemia	Congenital Pure Red Cell Aplasia Aase Syndrome Erythrogenesis Imperfecta Anemia, Diamond-Blackfan Congenital Hypoplastic Anemia Aase-Smith Ii Syndrome Bds Blackfan-Diamond Anemia Congenital Prca Congenital Hypoplastic Anemia, Blackfan-Diamond Type Dba Blackfan - Diamond Syndrome Chronic Constitutional Pure Red Cell Anaemia Anemia Diamond Blackfan Type Anemia Congenital Erythroid Hypoplastic Aregenerative Anemia Chronic Congenital Blackfan Diamond Syndrome Red Cell Aplasia, Pure Hereditary Aase-Smith Syndrome Ii Bda Blackfan Diamond Anemia Blackfan-Diamond Disease Blackfan-Diamond Syndrome Chronic Congenital Agenerative Anemia Congenital Erythroid Hypoplastic Anemia Congenital Hypoplastic Anemia Of Blackfan And Diamond Congenital Pure Red Cell Anemia Hypoplastic Congenital Anemia Inherited Erythroblastopenia Pure Hereditary Red Cell Aplasia Anemia, Hypoplastic, Congenital Anemia Hypoplastic Congenital Fanconi Anemia Constitutional Aplastic Anemia Diamond-Blackfan Anemia 1 Aase Smith Syndrome 2 Congenital Red Cell Aplasia Red Cell Aplasia Of Infants Pure Red Cell Aplasia Of Infants Congenital Red Cell Aplastic Anaemia Congenital Pure Red Cell Anaemia Congenital Erythroid Hypoplasia Pearson Marrow-Pancreas Syndrome
Macrocytic Anemia	Anemia Macrocytic Anemia, Macrocytic Macrocytic Anaemia
Pure Red-Cell Aplasia	Pure Red Cell Aplasia Primary Red Cell Aplasia Red Cell Hypoplasia Prca Red-Cell Aplasia Pure Red-Cell Aplasia, Pure
Transient Erythroblastopenia Of Childhood	Erythroblastopenia, Transient Transient Acquired Pure Red Cell Aplasia TEC Familial Transient Erythroblastopenia Of Childhood
Bowen-Conradi Syndrome	BWCNS Bowen Hutterite Syndrome Bowen-Conradi Hutterite Syndrome Bowen Syndrome, Hutterite Type Bowen Hutterite Syndrome, Formerly Hutterite Syndrome Bowen Syndrome Hutterite Type Fetal Growth Retardation
Dyskeratosis Congenita, X-Linked	DKCX X-Linked Dyskeratosis Congenita Zinsser-Cole-Engman Syndrome Hoyeraal-Hreidarsson Syndrome Dyskeratosis Congenita X-Linked HHS Cerebellar Hypoplasia With Pancytopenia Prenatal Growth Retardation With Progressive Pancytopenia And Cerebellar Hypoplasia Dyskeratosis Congenita
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Shwachman-Diamond Syndrome 1	Shwachman-Diamond Syndrome Shwachman Syndrome Shwachman-Bodian-Diamond Syndrome Sds Pancreatic Insufficiency And Bone Marrow Dysfunction Shwachman-Bodian Syndrome SDS1 Lipomatosis Of Pancreas, Congenital Congenital Lipomatosis Of Pancreas Shwachman-Diamond Type Metaphyseal Dysplasia Metaphyseal Chondrodysplasia, Shwachman Type Shwachman-Diamond-Oski Syndrome
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	X-Linked Dyserythropoietic Anemia X-Linked Dyserythropoietic Anemia With Abnormal Platelets And Neutropenia XLANP Anemia, X-Linked, With/Without Neutropenia And/Or Platelet Abnormalities X-Linked Anemia With/Without Neutropenia And/Or Platelet Abnormalities Anemia Without Thrombocytopenia, X-Linked XLAWT Anemia X-Linked With Variable Neutropenia
Aplastic Anemia	Aplastic Anemia, Susceptibility To Anemia Aplastic Idiopathic Aplastic Anemia Secondary Aplastic Anemia Idiopathic Bone Marrow Failure Aplastic Anemia Idiopathic AA Anemia, Aplastic Aplastic Anemia, Idiopathic Erythroid Aplasia Aa - [Aplastic Anaemia] Haematopoietic Aplasia Aleukia Haemorrhagica Anaemia Due To Decreased Red Cell Production Aplasia Bone Marrow Aplastic Bone Marrow Hypoplastic Anaemia Nos Myeloid Bone Marrow Aplasia Pancytopenia Panhaematopenia Hypoproliferative Anaemia Medullary Hypoplasia Red Blood Cells Hypoplastic Anaemia Panmyelophthisis Panhemocytopenia Refractive Hypoproliferative Anaemia Toxic Anaemia Toxic Aplastic Anaemia Aplastic Anaemia Due To Toxic Cause Idiopathic Aplastic Anaemia Nos
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 3	MLASA3
Congenital Bile Acid Synthesis Defect	3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency Cba Cholestasis With Delta(4)-3-Oxosteroid-5-Beta-Reductase Deficiency Basd Bile Acid Synthesis Defect, Congenital, 1
Cartilage-Hair Hypoplasia	Metaphyseal Chondrodysplasia, Mckusick Type CHH Mckusick Type Metaphyseal Chondrodysplasia Metaphyseal Dysplasia Without Hypotrichosis Cartilage Hair Hypoplasia Like Syndrome Metaphyseal Chondrodysplasia Mckusick Type Chhv Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency Cartilage-Hair Syndrome Mckusick'S Metaphyseal Chondrodysplasia Syndrome Metaphyseal Chondrodysplasia, Recessive Type Autosomal Recessive Metaphyseal Chondrodysplasia
Amegakaryocytic Thrombocytopenia, Congenital	Congenital Amegakaryocytic Thrombocytopenia CAMT Thrombocytopenia, Congenital Amegakaryocytic Congenital Amegakaryocytic Thrombocytopenic Purpura Thrombocytopenia Congenital Amegakaryocytic Thrombocytopenia, Amegakaryocytic, Congenital
Treacher Collins Syndrome 1	Treacher Collins Syndrome Mandibulofacial Dysostosis Treacher Collins-Franceschetti Syndrome Tcof Tcs Mfd1 Franceschetti-Klein Syndrome TCS1 Franceschetti Syndrome Franceschetti-Zwahlen-Klein Syndrome Zygoauromandibular Dysplasia Treacher-Collins Syndrome Mandibulofacial Dysostosis Without Limb Anomalies Bilateral And Symmetric Oto-Mandibular Dysplasia
Physical Disorder	Physical Illness
Dyskeratosis Congenita	Dyskeratosis Congenita Autosomal Dominant Dc Dkc Zinsser-Engman-Cole Syndrome Dyskeratosis Congenita, Autosomal Dominant Autosomal Dominant Dyskeratosis Congenita Dkca Dyskeratosis Congenita Scoggins Type Zinsser-Cole-Engman Syndrome X-Linked Dyskeratosis Congenita Hoyeraal-Hreidarsson Syndrome
Severe Congenital Neutropenia	Congenital Neutropenia Neutropenia, Severe Congenital Congenital Agranulocytosis Infantile Genetic Agranulocytosis Kostmann Disease Kostmann'S Agranulocytosis Kostmann'S Syndrome Severe Infantile Genetic Neutropenia
Orofacial Cleft	Cleft, Orofacial
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS12230	RPS19 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19480	Rps19 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25973	Rps19 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	RPS19	VGNC	VGNC:53969
Mus musculus	RPS19	MGD	MGI:1333780
Rattus norvegicus	RPS19	RGD	RGD:68440
Macaca mulatta	RPS19	VGNC	VGNC:103856
Others	RPS19	NCBI