SMNDC1 survival motor neuron domain containing 1 [Homo sapiens] - Gene

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Summary

Official Symbol: SMNDC1provided by HGNC
Official Full Name: survival motor neuron domain containing 1provided by HGNC
Primary source: HGNC:16900
See related: Ensembl:ENSG00000119953; HPRD:04627; MIM:603519; Vega:OTTHUMG00000019036
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SMNR; SPF30
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]

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Genomic context

Location :: 10q23

Sequence :: Chromosome: 10; NC_000010.10 (112052798..112064707, complement)

See SMNDC1 in Epigenomics, MapViewer

Chromosome 10 - NC_000010.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

The structures of SMN and SPF30 Tudor domains bound to symmetric and asymmetric dimethylated arginine (DMA) are presented.
Title: Structural basis for dimethylarginine recognition by the Tudor domains of human SMN and SPF30 proteins.
Observational study of gene-disease association. (HuGE Navigator)
Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
U2AF35 and hPrp3 interactions with SPF30 can occur simultaneously, thereby potentially linking 3' splice site recognition with tri-small nuclear ribonucleoprotein addition
Title: Splicing factor SPF30 bridges an interaction between the prespliceosome protein U2AF35 and tri-small nuclear ribonucleoprotein protein hPrp3.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
O75940	Q14974	KPNB1	HPRD	PubMed
O75940	O75643	SNRNP200	HPRD	PubMed
O75940	P14678	SNRPB	HPRD	PubMed
BioGRID:115574	BioGRID:123213	CDK5RAP3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:115574	BioGRID:114625	DDX21	BioGRID	PubMed	Affinity Capture-MS
BioGRID:115574	BioGRID:108431	EWSR1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:115574	BioGRID:108516	FDFT1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:115574	BioGRID:113895	HIST3H3	BioGRID	PubMed	Protein-peptide
BioGRID:115574	BioGRID:121141	PPAN	BioGRID	PubMed	Affinity Capture-MS
BioGRID:115574	BioGRID:120477	RNMTL1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:115574	BioGRID:112042	RPL3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:115574	BioGRID:114166	RUVBL1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:115574	BioGRID:113826	SF3A2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:115574	BioGRID:116146	SF3A3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:115574	BioGRID:117017	SF3B1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:115574	BioGRID:116188	SF3B2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:115574	BioGRID:117016	SF3B3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:115574	BioGRID:115554	SF3B4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:115574	BioGRID:116661	SNRNP200	BioGRID	PubMed	Affinity Capture-Western
BioGRID:115574	BioGRID:120842	TSR1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:115574	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:115574	BioGRID:277115	mad2	BioGRID	PubMed	Phenotypic Suppression

Function	Evidence Code	Pubs
RNA binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
RNA splicing	TAS Traceable Author Statement more info	PubMed
RNA splicing, via transesterification reactions	TAS Traceable Author Statement more info	PubMed
apoptotic process	IEA Inferred from Electronic Annotation more info
induction of apoptosis	TAS Traceable Author Statement more info	PubMed
mRNA processing	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
Cajal body	IEA Inferred from Electronic Annotation more info
cytoplasm	IEA Inferred from Electronic Annotation more info
nuclear speck	IEA Inferred from Electronic Annotation more info
nucleus	IEA Inferred from Electronic Annotation more info
spliceosomal complex	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: survival of motor neuron-related-splicing factor 30

Names: survival of motor neuron-related-splicing factor 30; SMN-related protein; 30 kDa splicing factor SMNrp; survival motor neuron domain-containing protein 1; splicing factor 30, survival of motor neuron-related

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008284.1 RefSeqGene

Range

5001..16910

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005871.3 → NP_005862.1 survival of motor neuron-related-splicing factor 30

Status: REVIEWED

Source sequence(s)

BC011234, BQ694303

Consensus CDS

CCDS7565.1

UniProtKB/Swiss-Prot

O75940

Related

ENSP00000358616, OTTHUMP00000020474, ENST00000369603, OTTHUMT00000050325

Conserved Domains (1) summary

cd04508
Location:76 – 124
Blast Score: 111

TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000010.10 Reference GRCh37.p5 Primary Assembly

Range

112052798..112064707, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000142.1 Alternate HuRef

Range

105683016..105694926, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL360182.15	CAI15482.1
genomic	CH471066.2	EAW49561.1
		EAW49562.1
		EAW49563.1
		EAW49564.1
mRNA	AF083385.1	AAC64086.1
mRNA	AF107463.1	AAC84148.1
mRNA	AK314013.1	BAG36724.1
mRNA	BC011234.1	AAH11234.1
mRNA	BC039110.1	None
mRNA	BQ694303.1	None