RPS19 - ribosomal protein S19 Gene

Homo sapiens

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

Gene ID: 6223 | Gene type: protein coding

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

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

Recombinant RPS19 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71265	RPS19 Protein, Human	P39019 (P2-H145)	≥95%

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12230	RPS19 Human Pre-designed siRNA Set A		/	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

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