SNRPD1 - small nuclear ribonucleoprotein D1 polypeptide Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6632

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

LSM: LSM domain (6 - 70)

  • 0
  • 100
  • 119 a.a.
Protein Preferred Names Protein Names

small nuclear ribonucleoprotein Sm D1

  • Sm-D autoantigen

SNRPD1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SNRPD1 P62314 SNRPD2 Homo sapiens P62316
Y2H
9417867
Intra
SNRPD1 P62314 SMN1 Homo sapiens Q16637
NMR
11135666
Intra
SNRPD1 P62314 SMN1 Homo sapiens Q16637 11135666
Intra
SNRPD1 P62314 CLNS1A Homo sapiens P54105 25416956
Intra
SNRPD1 P62314 CLNS1A Homo sapiens P54105 32296183
Intra
SNRPD1 P62314 CLNS1A Homo sapiens P54105 32296183
Cross
SNRPD1 P62314 P27958-PRO_0000037573 Hepatitis C virus P27958-PRO_0000037573 14524621
Cross
SNRPD1 P62314 P27958-PRO_0000037573 Hepatitis C virus P27958-PRO_0000037573
IF
14524621
Cross
SNRPD1 P62314 P27958-PRO_0000037573 Hepatitis C virus P27958-PRO_0000037573
Y2H
14524621
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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
Others SNRPD1 NCBI