RPS27 - ribosomal protein S27 Gene

Homo sapiens

Also known as S27; MPS1; DBA17; MPS-1

Gene ID: 6232 | Gene type: protein coding

About RPS27

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:153,990,762-153,992,155 (from NCBI)

This gene has 5 transcripts (splice variants), 104 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in ovary (RPKM 2236.6), lymph node (RPKM 1431.7) 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 four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the S27e family of ribosomal proteins and component of the 40S subunit. The encoded protein contains a C4-type zinc finger domain that can bind to zinc and may bind to nucleic acid. Mutations in this gene have been identified in numerous melanoma patients and in at least one patient with Diamond-Blackfan anemia (DBA). Elevated expression of this gene has been observed in various human cancers. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2018]

RPS27 Products(3)

mRNA	Protein	Name
NM_001030.6	NP_001021.1	40S ribosomal protein S27 isoform 1
NM_001349946.2	NP_001336875.1	40S ribosomal protein S27 isoform 2
NM_001349947.2	NP_001336876.1	40S ribosomal protein S27 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16864798	GOA
enables structural constituent of ribosome	IDA IDA: Inferred from direct assay	23636399	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in rRNA processing	IMP IMP: Inferred from mutant phenotype	25424902	GOA
involved in ribosomal small subunit biogenesis	IDA IDA: Inferred from direct assay	34516797	GOA

Cellular Component GO Annotation	Evidence	Reference	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
located in nucleus	IDA IDA: Inferred from direct assay	8407955	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
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

RPS27 Protein Structure

Ribosomal_S27e

0
84 a.a.

Protein Preferred Names

Protein Names

40S ribosomal protein S27

metallopan-stimulin 1

Related Diseases

Diseases

Alias

Diamond-Blackfan Anemia 17

DBA17	Rps27-Related Diamond-Blackfan Anemia
Anemia, Diamond-Blackfan, Type 17

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

Melanoma

Malignant Melanoma	Cutaneous Melanoma
Naevocarcinoma	Malignant Melanomas

Squamous Cell Carcinoma, Head And Neck

Squamous Cell Carcinoma Of The Head And Neck	HNSCC
Head And Neck Squamous Cell Carcinoma	Squamous Cell Carcinoma Of Lip
Squamous Cell Carcinoma, Head And Neck, Somatic	Carcinoma Of The Head And Neck
Squamous Cell Carcinomas Of Head And Neck	Scchn
Squamous Cell Carcinoma Of The Hypopharynx	Squamous Cell Carcinoma Of The Oropharynx
Squamous Cell Carcinoma Of Salivary Glands	Squamous Cell Carcinoma Of The Nasal Cavity And Paranasal Sinuses
Squamous Cell Carcinoma Of The Nasal Cavity And Sinuses	Squamous Cell Carcinoma Of The Oral Cavity
Squamous Cell Carcinoma Of The Lip	Carcinoma, Squamous Cell Of Head And Neck
Lip Squamous Cell Carcinoma	Carcinoma, Squamous Cell, Head And Neck
Salivary Gland Squamous Cell Carcinoma	Cancer Of Head And Neck
Squamous Cell Carcinoma Of Oropharynx Nos

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

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12238	RPS27 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS12239	RPS27A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	RPS27	MGD	MGI:1888676
Canis familiaris	RPS27	VGNC	VGNC:53632
Rattus norvegicus	RPS27	RGD	RGD:621045

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