MALSU1 (mitochondrial assembly of ribosomal large subunit 1)

2014-11-01  

Identity

HGNC
MALSU1
LOCATION
7p15.3
LOCUSID
115416
ALIAS
C7orf30,mtRsfA
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
231715482013The conserved interaction of C7orf30 with MRPL14 promotes biogenesis of the mitochondrial large ribosomal subunit and mitochondrial translation.31
231715482013The conserved interaction of C7orf30 with MRPL14 promotes biogenesis of the mitochondrial large ribosomal subunit and mitochondrial translation.31
222383752012C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation.29
222383762012C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome.44
222383752012C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation.29
222383762012C7orf30 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