GEMIN5 (gem nuclear organelle associated protein 5)

2007-04-01  

Identity

HGNC
GEMIN5
LOCATION
5q33.2
LOCUSID
25929
ALIAS
GEMIN-5,NEDCAM
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 25929
MIM: 607005
HGNC: 20043
Ensembl: ENSG00000082516

Variants:

dbSNP: 25929
ClinVar: 25929
TCGA: ENSG00000082516
COSMIC: GEMIN5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000082516ENST00000285873Q8TEQ6

Expression (GTEx)

0
5
10
15
20
25
30
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

Pathways

PathwaySourceExternal ID
RNA transportKEGGko03013
RNA transportKEGGhsa03013
Survival motor neuron (SMN) complexKEGGhsa_M00426
Survival motor neuron (SMN) complexKEGGM00426
Gene ExpressionREACTOMER-HSA-74160
Metabolism of non-coding RNAREACTOMER-HSA-194441
snRNP AssemblyREACTOMER-HSA-191859

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
168575932006The Gemin5 protein of the SMN complex identifies snRNAs.61
117147162002Gemin5, a novel WD repeat protein component of the SMN complex that binds Sm proteins.57
193774842009Gemin5-snRNA interaction reveals an RNA binding function for WD repeat domains.50
205134302010Gemin5 delivers snRNA precursors to the SMN complex for snRNP biogenesis.50
176408732007SMN-independent subunits of the SMN complex. Identification of a small nuclear ribonucleoprotein assembly intermediate.26
197500072009Identification of gemin5 as a novel 7-methylguanosine cap-binding protein.24
278816002016Structural insights into Gemin5-guided selection of pre-snRNAs for snRNP assembly.18
245982552014Identification of novel non-canonical RNA-binding sites in Gemin5 involved in internal initiation of translation.17
182454612008Alterations in Gemin5 expression contribute to alternative mRNA splicing patterns and tumor cell motility.16
176403702007Absence of gemin5 from SMN complexes in nuclear Cajal bodies.15

Citation

Dessen P

GEMIN5 (gem nuclear organelle associated protein 5)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47248/gemin5