SNRPD1 - small nuclear ribonucleoprotein D1 polypeptide Gene

Homo sapiens

Also known as SMD1; SNRPD; Sm-D1; HsT2456

Gene ID: 6632 | Gene type: protein coding

About SNRPD1

Cytogenetic location: 18q11.2 Genomic coordinates (GRCh38): 18:21,612,314-21,633,520 (from NCBI)

This gene has 4 transcripts (splice variants), 234 orthologues and 2 paralogues. Ubiquitous expression in lymph node (RPKM 17.9), bone marrow (RPKM 15.5) and 25 other tissues.

Summary

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 contacts with RNA. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

SNRPD1 Products(2)

mRNA	Protein	Name
NM_001291916.2	NP_001278845.1	small nuclear ribonucleoprotein Sm D1 isoform 2
NM_006938.4	NP_008869.1	small nuclear ribonucleoprotein Sm D1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	9417867	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	28076346	GOA
involved in spliceosomal snRNP assembly	IDA IDA: Inferred from direct assay	18984161	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of SMN-Sm protein complex	IDA IDA: Inferred from direct assay	18984161	GOA
part of U1 snRNP	IDA IDA: Inferred from direct assay	21113136	GOA
part of U1 snRNP	IPI IPI: Inferred from physical interaction	33677607	GOA
part of U12-type spliceosomal complex	IDA IDA: Inferred from direct assay	15146077	GOA
part of U2-type catalytic step 2 spliceosome	IDA IDA: Inferred from direct assay	28076346	GOA
part of U2-type precatalytic spliceosome	IDA IDA: Inferred from direct assay	28781166	GOA
part of U2-type spliceosomal complex	IDA IDA: Inferred from direct assay	32494006	GOA
part of U4 snRNP	IDA IDA: Inferred from direct assay	21516107	GOA
part of U4/U6 x U5 tri-snRNP complex	IDA IDA: Inferred from direct assay	26912367	GOA
part of U4/U6 x U5 tri-snRNP complex	IPI IPI: Inferred from physical interaction	30975767	GOA
part of catalytic step 2 spliceosome	IDA IDA: Inferred from direct assay	11991638	GOA
located in cytosol	IDA IDA: Inferred from direct assay	18984161	GOA
part of methylosome	IDA IDA: Inferred from direct assay	18984161	GOA
located in nucleus	IDA IDA: Inferred from direct assay	14524621	GOA
located in nucleus	IMP IMP: Inferred from mutant phenotype	14524621	GOA
part of pICln-Sm protein complex	IDA IDA: Inferred from direct assay	18984161	GOA
part of spliceosomal complex	IPI IPI: Inferred from physical interaction	33677607	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SNRPD1 Protein Structure

LSM

0
100
119 a.a.

Protein Preferred Names

Protein Names

small nuclear ribonucleoprotein Sm D1

Sm-D autoantigen

Related Diseases

Diseases

Alias

Lupus Erythematosus

Lupus	Lupus Vulgaris
Lupus Erythematosus, Discoid	Lupus Erythematosus, Systemic
Subacute Cutaneous Lupus	Le - [Lupus Erythematosus]

Systemic Lupus Erythematosus

Lupus Nephritis	SLE
Disseminated Lupus Erythematosus	Systemic Lupus Erythematosus, Susceptibility To
Lupus Erythematosus, Systemic	Lupus Nephritis, Susceptibility To
Libman-Sacks Disease	Systemic Lupus Erythematosus Susceptibility To
Sle - Lupus Erythematosus, Systemic	Le Syndrome
Lupus	Lupus Erythematosus Systemic
Lupus Erythematosus, Systemic, Susceptibility To	Lupus Vulgaris
Lupus Erythematosus, Discoid	Lupus Erythematosus
Systemic Lupus Erythematosus Nos	Sle - [Systemic Lupus Erythematosus]

Autoimmune Disease

Autoimmune Diseases	Autoimmune Hypersensitivity Disease
Hypersensitivity Reaction Type Ii Disease	Type Ii Hypersensitivity Reaction Disease

Noonan Syndrome 2

NS2	Noonan Syndrome, Autosomal Recessive
Noonan Syndrome 2, Autosomal Recessive	Noonan Syndrome, Type 2

Muscular Atrophy

Muscle Wasting	Amyotrophia
Wasting - Muscle	Skeletal Muscle Atrophy

Spinal Muscular Atrophy

Sma	5q Sma
Proximal Sma	Sma-Associated Sma
Spinal Amyotrophies	Spinal Amyotrophy
Spinal Muscle Degeneration	Spinal Muscle Wasting
Muscular Atrophy Spinal	Atrophy, Muscular, Spinal
Hereditary Motor Neuronopathy	Progressive Muscular Atrophy
Sma - [Spinal Muscular Atrophy]

Spinal Muscular Atrophy, Type I

Werdnig-Hoffmann Disease	SMA1
Spinal Muscular Atrophy 1	Sma I
Sma, Infantile Acute Form	Muscular Atrophy, Infantile
Spinal Muscular Atrophy-1	Hmn Proximal Type I
Infantile Muscular Atrophy	Proximal Spinal Muscular Atrophy Type 1
Sma Type 1	Sma Type I
Sma-I	Hereditary Motor Neuropathy Proximal Type I
Progressive Muscular Atrophy Of Infancy	Proximal Spinal Muscular Atrophy, Type 1
Werdnig Hoffmann Disease	Infantile Spinal Muscular Atrophy
Infantile-Onset Spinal Muscular Atrophy	Proximal Hereditary Motor Neuropathy Type I
Sma Infantile Acute Form	Spinal Muscular Atrophy Type I
Werdnig-Hoffman Disease	Atrophy, Muscular, Spinal, Type 1

Noonan Syndrome 1

Noonan Syndrome	NS1
Male Turner Syndrome	Female Pseudo-Turner Syndrome
Turner Phenotype With Normal Karyotype	Noonan Syndrome With Pigmented Villonodular Synovitis
Turner'S Phenotype, Karyotype Normal	Familial Turner Syndrome
Noonan'S Syndrome	Noonan-Ehmke Syndrome
Ns	Pseudo-Ullrich-Turner Syndrome
Turner Syndrome In Female With X Chromosome	Turner-Like Syndrome
Ullrich-Noonan Syndrome	Noonan-Like/Multiple Giant Cell Lesion Syndrome
Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions	Pterygium Colli Syndrome
Noonan Syndrome, Type 1	Turner Syndrome, Male

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13505	SNRPD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SNRPD1	VGNC	VGNC:65537
Macaca mulatta	SNRPD1	VGNC	VGNC:77677
Canis familiaris	SNRPD1	VGNC	VGNC:46611
Rattus norvegicus	SNRPD1	RGD	RGD:1306345
Mus musculus	SNRPD1	MGD	MGI:98344

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