RPL14 - ribosomal protein L14 Gene

Homo sapiens

Also known as L14; RL14; hRL14; CTG-B33; CAG-ISL-7

Gene ID: 9045 | Gene type: protein coding

About RPL14

Cytogenetic location: 3p22.1 Genomic coordinates (GRCh38): 3:40,457,339-40,468,587 (from NCBI)

This gene has 9 transcripts (splice variants) and 242 orthologues. Ubiquitous expression in ovary (RPKM 576.2), lymph node (RPKM 328.7) 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 60S subunit. The protein belongs to the L14E family of ribosomal proteins. It contains a basic region-leucine zipper (bZIP)-like domain. The protein is located in the cytoplasm. This gene contains a trinucleotide (GCT) repeat tract whose length is highly polymorphic; these triplet repeats result in a stretch of alanine residues in the encoded protein. Transcript variants utilizing alternative polyA signals and alternative 5'-terminal exons exist but all encode the same protein. 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]

RPL14 Products(2)

mRNA	Protein	Name
NM_001034996.3	NP_001030168.1	60S ribosomal protein L14
NM_003973.5	NP_003964.3	60S ribosomal protein L14

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11369516	GOA
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	Reference	Source
involved in rRNA processing	IMP IMP: Inferred from mutant phenotype	18697920	GOA
involved in ribosomal large subunit biogenesis	IMP IMP: Inferred from mutant phenotype	18697920	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of cytosolic large ribosomal subunit	IDA IDA: Inferred from direct assay	32669547	GOA
part of cytosolic large ribosomal subunit	IPI IPI: Inferred from physical interaction	25901680	GOA
located in cytosolic ribosome	IDA IDA: Inferred from direct assay	23636399	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

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

RPL14 Protein Structure

Ribosomal_L14e

0
100
200
215 a.a.

Protein Preferred Names

Protein Names

60S ribosomal protein L14

large ribosomal subunit protein eL14

Related Diseases

Diseases

Alias

Cardiomyopathy, Familial Hypertrophic, 15

Hypertrophic Cardiomyopathy 15	CMH15
Cardiomyopathy, Hypertrophic, 15	Cardiomyopathy Familial Hypertrophic 15
Cardiomyopathy, Familial Hypertrophic 15	Cardiomyopathy, Hypertrophic, Familial, Type 15

Cardiac Valvular Dysplasia, X-Linked

Xmvd	X-Linked Cardiac Valvular Dysplasia
CVD1	Filamin A-Related X-Linked Myxomatous Valvular Dysplasia
Flna-Related Valvular Dystrophy	Flna-Related X-Linked Myxomatous Valvular Dysplasia
Valvular Heart Disease, Congenital	Myxomatous Valvular Dystrophy, X-Linked
Congenital Valvular Heart Disease	X-Linked Myxomatous Valvular Dystrophy
CVDPX	Ehlers-Danlos Syndrome, Type V, Formerly
Eds5, Formerly	Dystrophie Valvulaire Associee A Flna
Eds 5	Ehlers-Danlos Syndrome, Type 5
Dystrophie Valvulaire Associée À Flna	Filamin-A-Associated Myxomatous Mitral Valve Disease
Filamin-A-Related Myxomatous Mitral Valve Dystrophy	Congenital Valvular Dysplasia
Cvdx	Ehlers-Danlos Syndrome Type 5

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

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-RS12166	RPL14 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	RPL14	VGNC	VGNC:34110
Mus musculus	RPL14	MGD	MGI:1914365
Rattus norvegicus	RPL14	RGD	RGD:621180

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