SNRPD1 (small nuclear ribonucleoprotein D1 polypeptide)

2013-07-01  

Identity

HGNC
SNRPD1
LOCATION
18q11.2
LOCUSID
6632
ALIAS
HsT2456,SMD1,SNRPD,Sm-D1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6632
MIM: 601063
HGNC: 11158
Ensembl: ENSG00000167088

Variants:

dbSNP: 6632
ClinVar: 6632
TCGA: ENSG00000167088
COSMIC: SNRPD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167088ENST00000300413P62314
ENSG00000167088ENST00000579618J3QLR7
ENSG00000167088ENST00000582475J3QLI9

Expression (GTEx)

0
10
20
30
40
50
60
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
Systemic lupus erythematosusKEGGko05322
Systemic lupus erythematosusKEGGhsa05322
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Spliceosome, U1-snRNPKEGGhsa_M00351
Spliceosome, U2-snRNPKEGGhsa_M00352
Spliceosome, 35S U5-snRNPKEGGhsa_M00355
Spliceosome, U4/U6.U5 tri-snRNPKEGGhsa_M00354
Sm core complexKEGGhsa_M00398
Spliceosome, U1-snRNPKEGGM00351
Spliceosome, U2-snRNPKEGGM00352
Spliceosome, U4/U6.U5 tri-snRNPKEGGM00354
Spliceosome, 35S U5-snRNPKEGGM00355
Sm core complexKEGGM00398
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163
mRNA Splicing - Minor PathwayREACTOMER-HSA-72165
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
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
233586852013Targeting the deregulated spliceosome core machinery in cancer cells triggers mTOR blockade and autophagy.23
252735322014Association of cerebrospinal fluid anti-Sm antibodies with acute confusional state in systemic lupus erythematosus.14
244131652014The SMN Tudor SIM-like domain is key to SmD1 and coilin interactions and to Cajal body biogenesis.7
285951162017The unique spliceosome signature of human pluripotent stem cells is mediated by SNRPA1, SNRPD1, and PNN.6
287904442017Anti-SmD1 antibodies are associated with renal disorder, seizures, and pulmonary arterial hypertension in Chinese patients with active SLE.3

Citation

Dessen P

SNRPD1 (small nuclear ribonucleoprotein D1 polypeptide)

Atlas Genet Cytogenet Oncol Haematol. 2013-07-01

Online version: http://atlasgeneticsoncology.org/gene/53452/snrpd1