Identity
HGNC
LOCATION
7p15.3
LOCUSID
ALIAS
C7orf30,mtRsfA
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 115416
MIM: 614624
HGNC: 21721
Ensembl: ENSG00000156928
Variants:
dbSNP: 115416
ClinVar: 115416
TCGA: ENSG00000156928
COSMIC: MALSU1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000156928 | ENST00000466681 | Q96EH3 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 23171548 | 2013 | The conserved interaction of C7orf30 with MRPL14 promotes biogenesis of the mitochondrial large ribosomal subunit and mitochondrial translation. | 31 |
| 23171548 | 2013 | The conserved interaction of C7orf30 with MRPL14 promotes biogenesis of the mitochondrial large ribosomal subunit and mitochondrial translation. | 31 |
| 22238375 | 2012 | C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation. | 29 |
| 22238376 | 2012 | C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome. | 44 |
| 22238375 | 2012 | C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation. | 29 |
| 22238376 | 2012 | C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome. | 44 |
Citation
Dessen P
MALSU1 (mitochondrial assembly of ribosomal large subunit 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/68769/malsu1-(mitochondrial-assembly-of-ribosomal-large-subunit-1)
