MALSU1 (mitochondrial assembly of ribosomal large subunit 1)

2014-11-01  

Identity

HGNC
LOCATION
7p15.3
LOCUSID
ALIAS
C7orf30,mtRsfA
FUSION GENES

Other Information

Locus ID:

NCBI: 115416
MIM: 614624
HGNC: 21721
Ensembl: ENSG00000156928

Variants:

dbSNP: 115416
ClinVar: 115416
TCGA: ENSG00000156928
COSMIC: MALSU1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000156928ENST00000466681Q96EH3

Expression (GTEx)

0
5
10
15
20
25
30
35

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
222383762012C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome.34
222383752012C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation.22
231715482013The conserved interaction of C7orf30 with MRPL14 promotes biogenesis of the mitochondrial large ribosomal subunit and mitochondrial translation.18

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