SMNDC1 (survival motor neuron domain containing 1)

2014-11-01  

Identity

HGNC
SMNDC1
LOCATION
10q25.2
LOCUSID
10285
ALIAS
SMNR,SPF30,TDRD16C
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10285
MIM: 603519
HGNC: 16900
Ensembl: ENSG00000119953

Variants:

dbSNP: 10285
ClinVar: 10285
TCGA: ENSG00000119953
COSMIC: SMNDC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119953ENST00000369592O75940
ENSG00000119953ENST00000369603O75940

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
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163

References

Pubmed IDYearTitleCitations
360448492022SMNDC1 links chromatin remodeling and splicing to regulate pancreatic hormone expression.6
360448492022SMNDC1 links chromatin remodeling and splicing to regulate pancreatic hormone expression.6
334226912021Interactome analysis of the Tudor domain-containing protein SPF30 which associates with the MTR4-exosome RNA-decay machinery under the regulation of AAA-ATPase NVL2.2
334226912021Interactome analysis of the Tudor domain-containing protein SPF30 which associates with the MTR4-exosome RNA-decay machinery under the regulation of AAA-ATPase NVL2.2
319116762020RNA isoform screens uncover the essentiality and tumor-suppressor activity of ultraconserved poison exons.44
319116762020RNA isoform screens uncover the essentiality and tumor-suppressor activity of ultraconserved poison exons.44
286128542017Fragile X mental retardation protein recognizes a G quadruplex structure within the survival motor neuron domain containing 1 mRNA 5'-UTR.6
286128542017Fragile X mental retardation protein recognizes a G quadruplex structure within the survival motor neuron domain containing 1 mRNA 5'-UTR.6
223634332012Crystal structure of TDRD3 and methyl-arginine binding characterization of TDRD3, SMN and SPF30.32
223634332012Crystal structure of TDRD3 and methyl-arginine binding characterization of TDRD3, SMN and SPF30.32
221019372011Structural basis for dimethylarginine recognition by the Tudor domains of human SMN and SPF30 proteins.93
221019372011Structural basis for dimethylarginine recognition by the Tudor domains of human SMN and SPF30 proteins.93
182118892008Splicing factor SPF30 bridges an interaction between the prespliceosome protein U2AF35 and tri-small nuclear ribonucleoprotein protein hPrp3.5
182118892008Splicing factor SPF30 bridges an interaction between the prespliceosome protein U2AF35 and tri-small nuclear ribonucleoprotein protein hPrp3.5
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.83

Citation

Dessen P

SMNDC1 (survival motor neuron domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73588/cancer-prone-explorer/js/lib/popper.js