Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
63931
Gene name Gene Name - the full gene name approved by the HGNC.
Mitochondrial ribosomal protein S14
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MRPS14
Synonyms (NCBI Gene) Gene synonyms aliases
COXPD38, DJ262D12.2, HSMRPS14, MRP-S14, S14mt, uS14m
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q25.1
Summary Summary of gene provided in NCBI Entrez Gene.
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% prot
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs990763738 G>A Pathogenic Coding sequence variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022038 hsa-miR-128-3p Microarray 17612493
MIRT025159 hsa-miR-181a-5p Microarray 17612493
MIRT031807 hsa-miR-16-5p Proteomics 18668040
MIRT708036 hsa-miR-6732-3p HITS-CLIP 21572407
MIRT708035 hsa-miR-10a-5p HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22681889
GO:0003735 Function Structural constituent of ribosome IBA
GO:0003735 Function Structural constituent of ribosome IEA
GO:0003735 Function Structural constituent of ribosome TAS 10938081
GO:0005515 Function Protein binding IPI 32814053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611978 14049 ENSG00000120333
Protein
UniProt ID O60783
Protein name Small ribosomal subunit protein uS14m (28S ribosomal protein S14, mitochondrial) (MRP-S14) (S14mt)
PDB 3J9M , 6NU2 , 6NU3 , 6RW4 , 6RW5 , 6VLZ , 6VMI , 6ZM5 , 6ZM6 , 6ZS9 , 6ZSA , 6ZSB , 6ZSC , 6ZSD , 6ZSE , 6ZSG , 7A5F , 7A5G , 7A5I , 7A5K , 7L08 , 7OG4 , 7P2E , 7PNX , 7PNY , 7PNZ , 7PO0 , 7PO1 , 7PO2 , 7PO3 , 7QI4 , 7QI5 , 7QI6 , 8ANY , 8CSP , 8CSQ , 8CSR , 8CSS , 8CST , 8CSU , 8K2A , 8OIR , 8OIS , 8QRK , 8QRL , 8QRM , 8QRN , 8RRI , 8XT0 , 8XT2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00253 Ribosomal_S14 74 127 Ribosomal protein S14p/S29e Family
Sequence
MAAFMLGSLLRTFKQMVPSSASGQVRSHYVDWRMWRDVKRRKMAYEYADERLRINSLRKN
TILPKILQDVADEEIAALPRDSCPVRIRNRCVMTSRPRGVKRRWRLSRIVFRHLADHGQL
SGIQRAT
W
Sequence length 128
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Ribosome   Mitochondrial translation elongation
Mitochondrial translation termination
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Combined Oxidative Phosphorylation Deficiency combined oxidative phosphorylation deficiency 38 N/A N/A GenCC
Keratoconus Keratoconus N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Lactic Associate 30358850
Cardiomyopathy Hypertrophic Associate 30358850
Congenital Abnormalities Associate 30358850
Cytochrome c Oxidase Deficiency Associate 30358850
Growth Disorders Associate 30358850
Intellectual Disability Associate 30358850
Mitochondrial Diseases Associate 30358850
Muscle Hypotonia Associate 30358850
Muscular dystrophy congenital with central nervous system involvement Associate 30358850