SMNDC1 (survival motor neuron domain containing 1)

2014-11-01 Affiliation

Identity

HGNC

SMNDC1

LOCATION

10q25.2

LOCUSID

10285

ALIAS

SMNR,SPF30,TDRD16C

FUSION GENES

Show Gene Fusions

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: 10285
MIM: 603519
HGNC: 16900
Ensembl: ENSG00000119953

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000119953	ENST00000369592	O75940
ENSG00000119953	ENST00000369603	O75940

Expression (GTEx)

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

Pathway	Source	External ID
Spliceosome	KEGG	ko03040
Spliceosome	KEGG	hsa03040
Gene Expression	REACTOME	R-HSA-74160
Processing of Capped Intron-Containing Pre-mRNA	REACTOME	R-HSA-72203
mRNA Splicing	REACTOME	R-HSA-72172
mRNA Splicing - Major Pathway	REACTOME	R-HSA-72163

References

Pubmed ID	Year	Title	Citations
16385451	2006	A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.	69
22101937	2011	Structural basis for dimethylarginine recognition by the Tudor domains of human SMN and SPF30 proteins.	59
22363433	2012	Crystal structure of TDRD3 and methyl-arginine binding characterization of TDRD3, SMN and SPF30.	23
18211889	2008	Splicing factor SPF30 bridges an interaction between the prespliceosome protein U2AF35 and tri-small nuclear ribonucleoprotein protein hPrp3.	4
28612854	2017	Fragile X mental retardation protein recognizes a G quadruplex structure within the survival motor neuron domain containing 1 mRNA 5'-UTR.	4
31911676	2020	RNA isoform screens uncover the essentiality and tumor-suppressor activity of ultraconserved poison exons.	1

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/smndc1