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Aliases for SNRPD1 Gene

Aliases for SNRPD1 Gene

  • Small Nuclear Ribonucleoprotein D1 Polypeptide 16kDa 2 3
  • SnRNP Core Protein D1 3 4
  • Sm-D Autoantigen 3 4
  • Sm-D1 3 4
  • Small Nuclear Ribonucleoprotein D1 Polypeptide 16kDa Pseudogene 3
  • Small Nuclear Ribonucleoprotein D1 Polypeptide (16kD) 2
  • Small Nuclear Ribonucleoprotein Sm D1 3
  • HsT2456 3
  • SNRPD 3
  • SMD1 3

External Ids for SNRPD1 Gene

Previous Symbols for SNRPD1 Gene

  • SNRPD

Summaries for SNRPD1 Gene

Entrez Gene Summary for SNRPD1 Gene

  • 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]

GeneCards Summary for SNRPD1 Gene

SNRPD1 (Small Nuclear Ribonucleoprotein D1 Polypeptide 16kDa) is a Protein Coding gene. Diseases associated with SNRPD1 include neurotic disorder and phimosis. Among its related pathways are Gene Expression and Spliceosome. GO annotations related to this gene include RNA binding.

UniProtKB/Swiss-Prot for SNRPD1 Gene

  • Core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in an heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. May act as a charged protein scaffold to promote snRNP assembly or strengthen snRNP-snRNP interactions through nonspecific electrostatic contacts with RNA.

Gene Wiki entry for SNRPD1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNRPD1 Gene

Genomics for SNRPD1 Gene

Genomic Location for SNRPD1 Gene

Start:
21,612,267 bp from pter
End:
21,630,456 bp from pter
Size:
18,190 bases
Orientation:
Plus strand

Genomic View for SNRPD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SNRPD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNRPD1 Gene

Regulatory Elements for SNRPD1 Gene

Proteins for SNRPD1 Gene

  • Protein details for SNRPD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P62314-SMD1_HUMAN
    Recommended name:
    Small nuclear ribonucleoprotein Sm D1
    Protein Accession:
    P62314
    Secondary Accessions:
    • B5BTZ1
    • P13641

    Protein attributes for SNRPD1 Gene

    Size:
    119 amino acids
    Molecular mass:
    13282 Da
    Quaternary structure:
    • U1 snRNP is for instance composed of the 7 core Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in an heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP, and at least three U1 snRNP-specific proteins SNRNP70/U1-70K, SNRPA/U1-A and SNRPC/U1-C. Component of the U11/U12 snRNPs that are part of the U12-type spliceosome. Part of the SMN-Sm complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8, STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG; catalyzes core snRNPs assembly. Forms a 6S pICln-Sm complex composed of CLNS1A/pICln, SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG; ring-like structure where CLNS1A/pICln mimics additional Sm proteins and which is unable to assemble into the core snRNP.
    Miscellaneous:
    • In the autoimmune disease systemic lupus erythematosus, antinuclear antibodies are developed with Sm specificity

    Three dimensional structures from OCA and Proteopedia for SNRPD1 Gene

neXtProt entry for SNRPD1 Gene

Proteomics data for SNRPD1 Gene at MOPED

Post-translational modifications for SNRPD1 Gene

  • Methylated on arginine residues by PRMT5 and PRMT7; probable asymmetric dimethylation which is required for assembly and biogenesis of snRNPs.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SNRPD1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SNRPD1 Gene

Domains for SNRPD1 Gene

Protein Domains for SNRPD1 Gene

UniProtKB/Swiss-Prot:

SMD1_HUMAN
Family:
  • Belongs to the snRNP core protein family.:
    • P62314
genes like me logo Genes that share domains with SNRPD1: view

No data available for Gene Families for SNRPD1 Gene

Function for SNRPD1 Gene

Molecular function for SNRPD1 Gene

UniProtKB/Swiss-Prot Function: Core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in an heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. May act as a charged protein scaffold to promote snRNP assembly or strengthen snRNP-snRNP interactions through nonspecific electrostatic contacts with RNA.

Gene Ontology (GO) - Molecular Function for SNRPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding TAS 3260384
GO:0005515 protein binding IPI 11714716
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with SNRPD1: view
genes like me logo Genes that share phenotypes with SNRPD1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SNRPD1 Gene

Localization for SNRPD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNRPD1 Gene

Cytoplasm, cytosol. Nucleus. Note=SMN-mediated assembly into core snRNPs occurs in the cytosol before SMN-mediated transport to the nucleus to be included in spliceosomes.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SNRPD1 Gene COMPARTMENTS Subcellular localization image for SNRPD1 gene
Compartment Confidence
nucleus 5
cytosol 4
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SNRPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IMP 14524621
GO:0005654 nucleoplasm TAS --
GO:0005685 U1 snRNP IDA 21113136
GO:0005687 U4 snRNP IDA 21516107
GO:0005689 U12-type spliceosomal complex IDA 15146077
genes like me logo Genes that share ontologies with SNRPD1: view

Pathways for SNRPD1 Gene

genes like me logo Genes that share pathways with SNRPD1: view

Pathways by source for SNRPD1 Gene

Gene Ontology (GO) - Biological Process for SNRPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000245 spliceosomal complex assembly TAS 7527560
GO:0000387 spliceosomal snRNP assembly TAS --
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0002230 positive regulation of defense response to virus by host IMP 22020285
GO:0008380 RNA splicing TAS --
genes like me logo Genes that share ontologies with SNRPD1: view

Compounds for SNRPD1 Gene

(1) Novoseek inferred chemical compound relationships for SNRPD1 Gene

Compound -log(P) Hits PubMed IDs
arginine 27.2 3
genes like me logo Genes that share compounds with SNRPD1: view

Transcripts for SNRPD1 Gene

mRNA/cDNA for SNRPD1 Gene

Unigene Clusters for SNRPD1 Gene

Small nuclear ribonucleoprotein D1 polypeptide 16kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SNRPD1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4
SP1:
SP2: -

Relevant External Links for SNRPD1 Gene

GeneLoc Exon Structure for
SNRPD1
ECgene alternative splicing isoforms for
SNRPD1

Expression for SNRPD1 Gene

mRNA expression in normal human tissues for SNRPD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SNRPD1 Gene

SOURCE GeneReport for Unigene cluster for SNRPD1 Gene Hs.464734

genes like me logo Genes that share expressions with SNRPD1: view

Orthologs for SNRPD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SNRPD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SNRPD1 36
  • 99.44 (n)
  • 100 (a)
SNRPD1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 37
  • 97 (a)
OneToMany
-- 37
  • 93 (a)
OneToMany
SNRPD1 36
  • 92.72 (n)
  • 100 (a)
SNRPD1 37
  • 100 (a)
OneToMany
dog
(Canis familiaris)
Mammalia SNRPD1 36
  • 93.56 (n)
  • 100 (a)
SNRPD1 37
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Snrpd1 36
  • 94.4 (n)
  • 100 (a)
Snrpd1 16
Snrpd1 37
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SNRPD1 37
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SNRPD1 37
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Snrpd1 36
  • 93.28 (n)
  • 100 (a)
chicken
(Gallus gallus)
Aves SNRPD1 36
  • 81.85 (n)
  • 100 (a)
SNRPD1 37
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNRPD1 37
  • 100 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.8354 36
tropical clawed frog
(Silurana tropicalis)
Amphibia snrpd1 36
  • 79.83 (n)
  • 98.32 (a)
Str.8924 36
zebrafish
(Danio rerio)
Actinopterygii snrpd1 36
  • 77.98 (n)
  • 97.32 (a)
snrpd1 37
  • 97 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007246 36
  • 70.92 (n)
  • 85.11 (a)
fruit fly
(Drosophila melanogaster)
Insecta SmD1 36
  • 68.09 (n)
  • 82.98 (a)
SmD1 37
  • 77 (a)
OneToOne
snRNP69D 38
  • 88 (a)
worm
(Caenorhabditis elegans)
Secernentea snr-3 36
  • 62.5 (n)
  • 76.04 (a)
snr-3 37
  • 72 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMD1 37
  • 38 (a)
OneToOne
SMD1 39
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G02840 36
  • 67.38 (n)
  • 75.53 (a)
rice
(Oryza sativa)
Liliopsida Os.12287 36
Os04g0470200 36
  • 64.42 (n)
  • 74.04 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00505 36
  • 61.54 (n)
  • 68.13 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes smd1 36
  • 66.67 (n)
  • 78.95 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.15367 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1761 37
  • 77 (a)
OneToOne
Species with no ortholog for SNRPD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SNRPD1 Gene

ENSEMBL:
Gene Tree for SNRPD1 (if available)
TreeFam:
Gene Tree for SNRPD1 (if available)

Paralogs for SNRPD1 Gene

Selected SIMAP similar genes for SNRPD1 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for SNRPD1 Gene

genes like me logo Genes that share paralogs with SNRPD1: view

No data available for Paralogs for SNRPD1 Gene

Variants for SNRPD1 Gene

Sequence variations from dbSNP and Humsavar for SNRPD1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
rs1701561 -- 21,613,909(+) AAAGA(A/C)ATTTA intron-variant
rs1701562 -- 21,613,954(+) AACTT(G/T)GGATA intron-variant
rs1789239 -- 21,613,938(+) TTTTT(A/T)TTTGA intron-variant
rs2456444 -- 21,611,855(+) TTTTG(C/G/T)GAGAC upstream-variant-2KB
rs2847117 -- 21,628,890(+) GGTGG(A/G)GGGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SNRPD1 Gene

Variant ID Type Subtype PubMed ID
nsv909448 CNV Gain 21882294
nsv909449 CNV Gain 21882294
esv29974 CNV Loss 17803354

Relevant External Links for SNRPD1 Gene

HapMap Linkage Disequilibrium report
SNRPD1

Disorders for SNRPD1 Gene

(2) MalaCards Diseases for SNRPD1 Gene

Search for SNRPD1 Gene in MalaCards »

(4) University of Copenhagen DISEASES for SNRPD1 Gene

(3) Novoseek inferred disease relationships for SNRPD1 Gene

Disease -log(P) Hits PubMed IDs
autoimmune response 59.2 1
lupus erythematosus systemic 56.3 4
renal failure 15.7 1
genes like me logo Genes that share disorders with SNRPD1: view

No data available for UniProtKB/Swiss-Prot for SNRPD1 Gene

Publications for SNRPD1 Gene

  1. Unique Sm core structure of U7 snRNPs: assembly by a specialized SMN complex and the role of a new component, Lsm11, in histone RNA processing. (PMID: 12975319) Pillai R.S. … Schuemperli D. (Genes Dev. 2003) 3 23
  2. Analysis of genes for human snRNP Sm-D1 protein and identification of the promoter sequence which shows segmental homology to the promoters of Sm-E and U1 snRNA genes. (PMID: 9168134) Sun D. … Hoch S.O. (Gene 1997) 3 23
  3. SMN, the product of the spinal muscular atrophy gene, binds preferentially to dimethylarginine-containing protein targets. (PMID: 11389857) Friesen W.J. … Dreyfuss G. (Mol. Cell 2001) 3 23
  4. Evidence for three distinct D proteins, which react differentially with anti-Sm autoantibodies, in the cores of the major snRNPs U1, U2, U4/U6 and U5. (PMID: 1701240) Lehmeier T. … LA1hrmann R. (Nucleic Acids Res. 1990) 2 3
  5. Expression of the major human ribonucleoprotein (RNP) autoantigens in Escherichia coli and their use in an EIA for screening sera from patients with autoimmune diseases. (PMID: 2528429) Renz M. … Seelig H.P. (Clin. Chem. 1989) 3 4

Products for SNRPD1 Gene

Sources for SNRPD1 Gene

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