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SMNDC1

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GENERAL INFORMATION

Gene name

 SMNDC1

Gene description

 Survival motor neuron domain containing 1

Protein class

 Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

Summary

 Mainly localized to the nucleus. In addition localized to the nuclear bodies.

RNA cell category

 Expressed in all

Protein evidence

 Evidence at protein level

Main location

 Localized to the Nucleus (supported)

Additional location

 In addition localized to the Nuclear bodies (supported)

DATA RELIABILITY

Reliability score

 Supported based on 1 antibody.
HPA061214
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ASSAYS
RNA expression
Human cells

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

HUMAN CELLS

Summary

 Mainly localized to the nucleus. In addition localized to the nuclear bodies.

Main location

 Nucleus (supported)

Additional location

 Nuclear bodies (supported)

 

 

 
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Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA061214 RH-30 Nucleoplasm
HPA061214 U-2 OS Nucleus
Nuclear bodies
HPA061214 U-251 MG Nucleus

GENE INFORMATION

Gene name

 SMNDC1 (HGNC Symbol)

Synonyms

 SMNR, SPF30, TDRD16C

Description

 Survival motor neuron domain containing 1 (HGNC Symbol)

Entrez gene summary

 This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq, Jul 2008]

Chromosome

 10

Cytoband

 q25.2

Chromosome location (bp)

 110290730 - 110304951

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000119953 (version 83.38)

Entrez gene

 10285

UniProt

 O75940 (UniProt - Evidence at protein level)

neXtProt

 NX_O75940

Antibodypedia

 SMNDC1 antibodies

PROTEIN BROWSER
SMNDC1-001
SMNDC1-002

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
SMNDC1-001
ENSP00000358616
ENST00000369603
O75940 [Direct mapping]
Survival of motor neuron-related-splicing factor 30
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Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000245 [spliceosomal complex assembly]
GO:0000375 [RNA splicing, via transesterification reactions]
GO:0003723 [RNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005681 [spliceosomal complex]
GO:0005737 [cytoplasm]
GO:0006397 [mRNA processing]
GO:0006915 [apoptotic process]
GO:0015030 [Cajal body]
GO:0016607 [nuclear speck]
GO:0044822 [poly(A) RNA binding]
GO:0045111 [intermediate filament cytoskeleton]
Show all
 238 aa
26.7 kDa 		No 0
SMNDC1-002
ENSP00000358605
ENST00000369592
O75940 [Direct mapping]
Survival of motor neuron-related-splicing factor 30
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000245 [spliceosomal complex assembly]
GO:0000375 [RNA splicing, via transesterification reactions]
GO:0003723 [RNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005681 [spliceosomal complex]
GO:0005737 [cytoplasm]
GO:0006397 [mRNA processing]
GO:0006915 [apoptotic process]
GO:0015030 [Cajal body]
GO:0016607 [nuclear speck]
GO:0044822 [poly(A) RNA binding]
GO:0045111 [intermediate filament cytoskeleton]
Show all
 238 aa
26.7 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.