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RPS27 - ribosomal protein S27 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6232

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	Références	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	Références	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	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
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

RPS27 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	RPS27	P42677	PSME3	Homo sapiens	P61289	Validated Y2H	32296183
Intra	RPS27	P42677	PSME3	Homo sapiens	P61289	Y2H Array	32296183
Intra	RPS27	P42677	PSME3	Homo sapiens	P61289	Y2H Prey Pooling	32296183
Intra	RPS27	P42677	MDM2	Homo sapiens	Q00987	Anti Tag CoIP	21170087

Cross: Cross-species interaction Intra: Intraspecies interaction

RPS27 Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P811008	RPS27 Antibody	WB, ICC/IF	Human, Mouse, Rat
HY-P85352	Ribosomal Protein S27 Antibody (YA5044)	ICC/IF	Human

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS20593	Rps27a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS12238	RPS27 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS12239	RPS27A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27101	Rps27a Rat Pre-designed siRNA Set A	Pre-designed Set	/	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