RPS17 - ribosomal protein S17 Gene

Also Known as S17; DBA4; RPS17L; RPS17L1; RPS17L2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6218

About RPS17

Cytogenetic location: 15q25.2 Genomic coordinates (GRCh38): 15:82,536,750-82,540,457 (from NCBI)

This gene has 9 transcripts (splice variants), 1 gene allele, 305 orthologues and is associated with 2 phenotypes. Ubiquitous expression in ovary (RPKM 529.6), bone marrow (RPKM 399.8) 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 four 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 S17E family of ribosomal proteins and is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia 4. Alternative splicing of this gene results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Apr 2014]

RPS17 Products (1)

mRNA Protein Name
NM_001021.6 NP_001012.1 40S ribosomal protein S17

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References 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 References Source
involved in erythrocyte homeostasis IMP
IMP: Inferred from mutant phenotype
17647292 GOA
involved in rRNA processing IMP
IMP: Inferred from mutant phenotype
18697920 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 References 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

RPS17 Protein Structure

Ribosomal_S17e

Ribosomal_S17e: Ribosomal S17 (1 - 121)

  • 0
  • 100
  • 135 a.a.
Protein Preferred Names Protein Names

40S ribosomal protein S17

  • small ribosomal subunit protein eS17

Related Diseases

Diseases Alias
Diamond-Blackfan Anemia 4

  • DBA4

  • Rps17-Related Diamond-Blackfan Anemia

  • Anemia, Diamond-Blackfan, Type 4
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
Hepatitis E
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
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
Orofacial Cleft

  • Cleft, Orofacial
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. Product Name
Effect
Purity
Rare Diseases
HY-RS12228 RPS17 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus RPS17 VGNC VGNC:104713
Bos taurus RPS17 VGNC VGNC:49958
Mus musculus RPS17 MGD MGI:1309526
Rattus norvegicus RPS17 RGD RGD:62027