SMNDC1

GENE INFORMATION

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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 (Chromosome progress)

Cytoband

q25.2

Chromosome location (bp)

112052798 - 112064709

Ensembl

ENSG00000119953 (version 73.37)

Entrez gene

10285

UniProt

O75940 (UniProt - Evidence at protein level)

neXtProt

NX_O75940

Antibodypedia

SMNDC1 antibodies
 

PROTEIN VIEW

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SMNDC1-001
 
SMNDC1-002
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SMNDC1-001 ENSP00000358616
ENST00000369603
O75940
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Show » 238 26.7 No 0
SMNDC1-002 ENSP00000358605
ENST00000369592
O75940
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Show » 238 26.7 No 0