RPS24 - ribosomal protein S24 Gene

Also Known as S24; DBA3; eS24

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6229

About RPS24

Cytogenetic location: 10q22.3 Genomic coordinates (GRCh38): 10:78,033,863-78,056,806 (from NCBI)

This gene has 18 transcripts (splice variants), 282 orthologues and is associated with 2 phenotypes. Ubiquitous expression in ovary (RPKM 356.3), bone marrow (RPKM 246.7) 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 S24E family of ribosomal proteins. It is located in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. [provided by RefSeq, Nov 2008]

RPS24 Products (6)

mRNA	Protein	Name
NM_001026.5	NP_001017.1	40S ribosomal protein S24 isoform c
NM_001142282.2	NP_001135754.1	40S ribosomal protein S24 isoform b
NM_001142283.2	NP_001135755.1	40S ribosomal protein S24 isoform e
NM_001142284.2	NP_001135756.1	40S ribosomal protein S24 isoform b
NM_001142285.2	NP_001135757.1	40S ribosomal protein S24 isoform d
NM_033022.4	NP_148982.1	40S ribosomal protein S24 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
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	Références	Source
involved in erythrocyte homeostasis	IMP IMP: Inferred from mutant phenotype	17186470	GOA
involved in rRNA processing	IMP IMP: Inferred from mutant phenotype	18230666	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	18230666	GOA

Cellular Component GO Annotation	Evidence	Références	Source
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
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

RPS24 Protein Structure

Ribosomal_S24e

0
100
133 a.a.

Protein Preferred Names	Protein Names
40S ribosomal protein S24	small ribosomal subunit protein eS24

Related Diseases

Diseases	Alias
Diamond-Blackfan Anemia 3	DBA3 Anemia, Diamond-Blackfan, 3 Rps24-Related Diamond-Blackfan Anemia Anemia Diamond-Blackfan 3 Anemia, Diamond-Blackfan, Type 3
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
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
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
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
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
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
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
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

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 (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS12235	RPS24 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	RPS24	VGNC	VGNC:106903
Mus musculus	RPS24	MGD	MGI:98147
Rattus norvegicus	RPS24	RGD	RGD:621040
Others	RPS24	NCBI