Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SNRPD1 Gene

Aliases for SNRPD1 Gene

  • Small Nuclear Ribonucleoprotein D1 Polypeptide 2 3 5
  • 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 D1 Polypeptide 16kDa 2
  • Small Nuclear Ribonucleoprotein Sm D1 3
  • HsT2456 3
  • SNRPD 3
  • SMD1 3

External Ids for SNRPD1 Gene

Previous HGNC Symbols for SNRPD1 Gene

  • SNRPD

Previous GeneCards Identifiers for SNRPD1 Gene

  • GC18P019067
  • GC18P018922
  • GC18P017444
  • GC18P017446
  • GC18P019192
  • GC18P016039

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) is a Protein Coding gene. Diseases associated with SNRPD1 include Systemic Lupus Erythematosus and Lupus Erythematosus. Among its related pathways are Transport of the SLBP independent Mature mRNA and mRNA Splicing - Major Pathway. GO annotations related to this gene include poly(A) RNA binding and 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 a 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

Regulatory Elements for SNRPD1 Gene

Enhancers for SNRPD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18F021637 0.2 ENCODE 17.4 +26.3 26272 1.1 THRB ZSCAN9 RAD21 RARA YY1 SCRT2 FOS CREM MIXL1 HMG20B SNRPD1 ESCO1 MIR320C1 MIB1 GC18P021649 GC18M021596
GH18F021679 0.2 ENCODE 6.9 +69.6 69556 3.7 ZNF121 PKNOX1 MIB1 ABHD3 SNRPD1 ESCO1 MIR320C1 ENSG00000265656
GH18F021611 0.6 ENCODE 6.3 +0.4 380 2.2 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 MIB1 ESCO1 ENSG00000264188 MIR320C1 SNRPD1 GC18M021596
GH18F021667 0.5 ENCODE 6.1 +56.8 56790 2.6 SMARCC1 STAT1 CEBPB MAFG ZNF384 MAFF ZNF316 ATF3 MAFK EMSY SNRPD1 ESCO1 ENSG00000265656 ENSG00000264188
GH18F021598 0.5 ENCODE 6 -11.5 -11525 4.4 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 MIR320C1 MIB1 ENSG00000199977 ABHD3 SNRPD1 ESCO1 GC18P021594
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SNRPD1 on UCSC Golden Path with GeneCards custom track

Promoters for SNRPD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001037059 634 2600 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1

Genomic Location for SNRPD1 Gene

Chromosome:
18
Start:
21,612,267 bp from pter
End:
21,633,524 bp from pter
Size:
21,258 bases
Orientation:
Plus strand

Genomic View for SNRPD1 Gene

Genes around SNRPD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNRPD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNRPD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 a 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

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

Antibody Products

  • Cloud-Clone Corp. Antibodies for SNRPD1
  • Santa Cruz Biotechnology (SCBT) Antibodies for SNRPD1

No data available for DME Specific Peptides for SNRPD1 Gene

Domains & Families for SNRPD1 Gene

Protein Domains for SNRPD1 Gene

Suggested Antigen Peptide Sequences for SNRPD1 Gene

Graphical View of Domain Structure for InterPro Entry

P62314

UniProtKB/Swiss-Prot:

SMD1_HUMAN :
  • Belongs to the snRNP core protein family.
Family:
  • Belongs to the snRNP core protein family.
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 a 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
GO:1990446 U1 snRNP binding IEA --
genes like me logo Genes that share ontologies with SNRPD1: view
genes like me logo Genes that share phenotypes with SNRPD1: view

Animal Model Products

miRNA for SNRPD1 Gene

miRTarBase miRNAs that target SNRPD1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
cytosol 5
nucleus 5
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SNRPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000243 commitment complex IBA --
GO:0005634 nucleus IMP,TAS 14524621
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IEA --
GO:0005682 U5 snRNP IBA --
genes like me logo Genes that share ontologies with SNRPD1: view

Pathways & Interactions for SNRPD1 Gene

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

Pathways by source for SNRPD1 Gene

2 KEGG pathways 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:0006396 RNA processing IEA --
GO:0006397 mRNA processing IEA --
genes like me logo Genes that share ontologies with SNRPD1: view

No data available for SIGNOR curated interactions for SNRPD1 Gene

Drugs & Compounds for SNRPD1 Gene

(1) Drugs for SNRPD1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SNRPD1: view

Transcripts for SNRPD1 Gene

Unigene Clusters for SNRPD1 Gene

Small nuclear ribonucleoprotein D1 polypeptide 16kDa:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SNRPD1 Gene



Protein tissue co-expression partners for SNRPD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SNRPD1 Gene:

SNRPD1

SOURCE GeneReport for Unigene cluster for SNRPD1 Gene:

Hs.464734
genes like me logo Genes that share expression patterns with SNRPD1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SNRPD1 Gene

Orthologs for SNRPD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SNRPD1 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia SNRPD1 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SNRPD1 34 35
  • 99.44 (n)
cow
(Bos Taurus)
Mammalia -- 35
  • 97 (a)
OneToMany
-- 35
  • 93 (a)
OneToMany
SNRPD1 34 35
  • 92.72 (n)
mouse
(Mus musculus)
Mammalia Snrpd1 34 16 35
  • 94.4 (n)
dog
(Canis familiaris)
Mammalia SNRPD1 34 35
  • 93.56 (n)
rat
(Rattus norvegicus)
Mammalia Snrpd1 34
  • 93.28 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SNRPD1 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves SNRPD1 34 35
  • 81.85 (n)
lizard
(Anolis carolinensis)
Reptilia SNRPD1 35
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia snrpd1 34
  • 79.83 (n)
Str.8924 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.8354 34
zebrafish
(Danio rerio)
Actinopterygii snrpd1 34 35
  • 77.98 (n)
fruit fly
(Drosophila melanogaster)
Insecta snRNP69D 36
  • 88 (a)
SmD1 34 35
  • 68.09 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007246 34
  • 70.92 (n)
worm
(Caenorhabditis elegans)
Secernentea snr-3 34 35
  • 62.5 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMD1 35 37
  • 38 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G02840 34
  • 67.38 (n)
rice
(Oryza sativa)
Liliopsida Os04g0470200 34
  • 64.42 (n)
Os.12287 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1761 35
  • 77 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes smd1 34
  • 66.67 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00505 34
  • 61.54 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.15367 34
Species where no ortholog for SNRPD1 was found in the sources mined by GeneCards:
  • 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

(5) 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
rs111301608 -- 21,624,432(+) CACAC(C/T)TGTAA intron-variant
rs111513417 -- 21,613,504(+) AGTAG(A/G)TAACG intron-variant
rs111911522 -- 21,624,033(+) GTGTC(C/T)TTGTT intron-variant
rs111926383 -- 21,622,632(+) TCTAG(A/C)AAATT intron-variant
rs112050412 -- 21,618,753(+) TGTTA(C/T)ATCCC intron-variant

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

Variant ID Type Subtype PubMed ID
esv29974 CNV loss 17803354

Variation tolerance for SNRPD1 Gene

Residual Variation Intolerance Score: 56.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.04; 0.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SNRPD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNRPD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNRPD1 Gene

Disorders for SNRPD1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SNRPD1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
systemic lupus erythematosus
  • lupus nephritis
lupus erythematosus
  • systemic lupus erythematosus
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SNRPD1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SNRPD1
genes like me logo Genes that share disorders with SNRPD1: view

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

Publications for SNRPD1 Gene

  1. Structure of the spliceosomal U4 snRNP core domain and its implication for snRNP biogenesis. (PMID: 21516107) Leung A.K. … Li J. (Nature 2011) 3 4 64
  2. Functional organization of the Sm core in the crystal structure of human U1 snRNP. (PMID: 21113136) Weber G. … Wahl M.C. (EMBO J. 2010) 3 4 64
  3. An assembly chaperone collaborates with the SMN complex to generate spliceosomal SnRNPs. (PMID: 18984161) Chari A. … Fischer U. (Cell 2008) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. The human 18S U11/U12 snRNP contains a set of novel proteins not found in the U2-dependent spliceosome. (PMID: 15146077) Will C.L. … Luehrmann R. (RNA 2004) 3 4 64

Products for SNRPD1 Gene

Sources for SNRPD1 Gene

Content
Loading form....