• Gene id: 6632

Gene Summary

• Gene Symbol: SNRPD1   Gene   UCSC   Ensembl
• Aliases: HsT2456, SMD1, SNRPD, Sm-D1
• Gene name: small nuclear ribonucleoprotein D1 polypeptide
• Alternate names: small nuclear ribonucleoprotein Sm D1, Sm-D autoantigen, small nuclear ribonucleoprotein D1 polypeptide 16kDa pseudogene, snRNP core protein D1,
• Gene location: 18q11.2 (21612313: 21633519)     Exons: 17     NC_000018.10
• Gene summary(Entrez): This gene encodes a small nuclear ribonucleoprotein that belongs to the SNRNP core protein family. The protein may act as a charged protein scaffold to promote SNRNP assembly or strengthen SNRNP-SNRNP interactions through nonspecific electrostatic contact
• OMIM: 601063

Protein Summary

• Protein general information: P62314  
  • Name: Small nuclear ribonucleoprotein Sm D1 (Sm D1) (Sm D autoantigen) (snRNP core protein D1)
  • Length: 119  
  • Mass: 13282
• Sequence:

  MKLVRFLMKLSHETVTIELKNGTQVHGTITGVDVSMNTHLKAVKMTLKNREPVQLETLSIRGNNIRYFILPDSLP
  LDTLLVDVEPKVKSKKREAVAGRGRGRGRGRGRGRGRGRGGPRR

• Structural information:
  • Interpro: IPR027141  IPR001163  IPR010920  IPR034102  
  • CDD: cd01724
  • PDB: 1B34 3CW1 3JCR 3PGW 4F7U 4PJO 4V98 4WZJ 5MQF 5O9Z 5XJC 5XJL 5XJQ 5XJR 5XJS 5XJT 5XJU 5YZG 5Z56 5Z57 5Z58 6AH0 6AHD 6FF7 6ICZ 6ID0 6ID1 6QDV 6QW6 6QX9
  • PDBsum: 1B34 3CW1 3JCR 3PGW 4F7U 4PJO 4V98 4WZJ 5MQF 5O9Z 5XJC 5XJL 5XJQ 5XJR 5XJS 5XJT 5XJU 5YZG 5Z56 5Z57 5Z58 6AH0 6AHD 6FF7 6ICZ 6ID0 6ID1 6QDV 6QW6 6QX9
  • DIP: 31207
  • STRING: ENSP00000300413
• Other Databases: GeneCards:  SNRPD1  Malacards:  SNRPD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0097526	spliceosomal tri-snRNP complex	IBA	cellular component
GO:0071013	catalytic step 2 spliceosome	IBA	cellular component
GO:0005689	U12-type spliceosomal complex	IBA	cellular component
GO:0000387	spliceosomal snRNP assembly	IBA	biological process
GO:0071011	precatalytic spliceosome	IBA	cellular component
GO:0034719	SMN-Sm protein complex	IBA	cellular component
GO:0034715	pICln-Sm protein complex	IBA	cellular component
GO:0005687	U4 snRNP	IBA	cellular component
GO:0005686	U2 snRNP	IBA	cellular component
GO:0005685	U1 snRNP	IBA	cellular component
GO:0005682	U5 snRNP	IBA	cellular component
GO:0003723	RNA binding	IBA	molecular function
GO:0000243	commitment complex	IBA	cellular component
GO:0071013	catalytic step 2 spliceosome	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005689	U12-type spliceosomal complex	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0000387	spliceosomal snRNP assembly	IDA	biological process
GO:0034719	SMN-Sm protein complex	IDA	cellular component
GO:0034715	pICln-Sm protein complex	IDA	cellular component
GO:0034709	methylosome	IDA	cellular component
GO:0005687	U4 snRNP	IDA	cellular component
GO:0005685	U1 snRNP	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
GO:0071007	U2-type catalytic step 2 spliceosome	IDA	cellular component
GO:0005685	U1 snRNP	IDA	cellular component
GO:0046540	U4/U6 x U5 tri-snRNP complex	IDA	cellular component
GO:0071005	U2-type precatalytic spliceosome	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000387	spliceosomal snRNP assembly	IEA	biological process
GO:0006396	RNA processing	IEA	biological process
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	TAS	molecular function
GO:0000245	spliceosomal complex assembly	TAS	biological process
GO:0005634	nucleus	TAS	cellular component
GO:0008380	RNA splicing	TAS	biological process
GO:0030532	small nuclear ribonucleoprotein complex	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IMP	cellular component
GO:0051170	import into nucleus	TAS	biological process
GO:0000387	spliceosomal snRNP assembly	TAS	biological process
GO:0000387	spliceosomal snRNP assembly	TAS	biological process
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005685	U1 snRNP	IEA	cellular component
GO:1990446	U1 snRNP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0005634	nucleus	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome
hsa05322	Systemic lupus erythematosus

Diseases

Associated diseases	References
Proteinuria	PMID:16418806
Connective tissue disease	PMID:2477448
Systemic lupus erythematosus	PMID:12571858
nasopharynx carcinoma	PMID:24080422
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray