Human Gene SNRPD1 (ENST00000300413.10_5) from GENCODE V47lift37
  Description: small nuclear ribonucleoprotein D1 polypeptide, transcript variant 1 (from RefSeq NM_006938.4)
Gencode Transcript: ENST00000300413.10_5
Gencode Gene: ENSG00000167088.11_8
Transcript (Including UTRs)
   Position: hg19 chr18:19,192,275-19,213,481 Size: 21,207 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr18:19,192,391-19,209,099 Size: 16,709 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:19,192,275-19,213,481)mRNA (may differ from genome)Protein (119 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SMD1_HUMAN
DESCRIPTION: RecName: Full=Small nuclear ribonucleoprotein Sm D1; Short=Sm-D1; AltName: Full=Sm-D autoantigen; AltName: Full=snRNP core protein D1;
FUNCTION: May act as a charged protein scaffold to promote snRNP assembly or strengthen snRNP-snRNP interactions through nonspecific electrostatic contacts with RNA.
SUBUNIT: Identified in the spliceosome C complex. Component of the U11/U12 snRNPs that are part of the U12-type spliceosome.
INTERACTION: P54105:CLNS1A; NbExp=5; IntAct=EBI-372177, EBI-724693;
SUBCELLULAR LOCATION: Nucleus.
PTM: Methylated on arginine residues by PRMT5 and PRMT7; methylation is required for assembly and biogenesis of snRNPs.
MISCELLANEOUS: In the autoimmune disease systemic lupus erythematosus, antinuclear antibodies are developed with Sm specificity.
SIMILARITY: Belongs to the snRNP core protein family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SNRPD1
Diseases sorted by gene-association score: systemic lupus erythematosus (10), lupus erythematosus (7)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 147.48 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 1527.97 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -38.70116-0.334 Picture PostScript Text
3' UTR -1699.104382-0.388 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010920 - LSM_dom
IPR001163 - Ribonucl_LSM
IPR006649 - Ribonucl_LSM_euk/arc

Pfam Domains:
PF01423 - LSM domain

SCOP Domains:
50182 - Sm-like ribonucleoproteins
54236 - Ubiquitin-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1B34 - X-ray MuPIT 2Y9A - X-ray 2Y9B - X-ray 2Y9C - X-ray 2Y9D - X-ray 3CW1 - X-ray MuPIT 3PGW - X-ray 3S6N - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P62314
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0005515 protein binding
GO:1990446 U1 snRNP binding

Biological Process:
GO:0000245 spliceosomal complex assembly
GO:0000387 spliceosomal snRNP assembly
GO:0000398 mRNA splicing, via spliceosome
GO:0006396 RNA processing
GO:0006397 mRNA processing
GO:0008380 RNA splicing
GO:0051170 nuclear import

Cellular Component:
GO:0000243 commitment complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0005682 U5 snRNP
GO:0005685 U1 snRNP
GO:0005686 U2 snRNP
GO:0005687 U4 snRNP
GO:0005689 U12-type spliceosomal complex
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0030532 small nuclear ribonucleoprotein complex
GO:0034709 methylosome
GO:0034715 pICln-Sm protein complex
GO:0034719 SMN-Sm protein complex
GO:0071007 U2-type catalytic step 2 spliceosome
GO:0071010 prespliceosome
GO:0071011 precatalytic spliceosome
GO:0071013 catalytic step 2 spliceosome
GO:0097526 spliceosomal tri-snRNP complex


-  Descriptions from all associated GenBank mRNAs
  KJ897589 - Synthetic construct Homo sapiens clone ccsbBroadEn_06983 SNRPD1 gene, encodes complete protein.
J03798 - Human autoantigen small nuclear ribonucleoprotein Sm-D mRNA, complete cds.
LF385232 - JP 2014500723-A/192735: Polycomb-Associated Non-Coding RNAs.
BC001721 - Homo sapiens small nuclear ribonucleoprotein D1 polypeptide 16kDa, mRNA (cDNA clone MGC:2222 IMAGE:3355716), complete cds.
AJ577268 - Homo sapiens mRNA for small nuclear ribonucleoprotein Sm D1 (SNRPD1 gene), mutated allele.
BC072427 - Homo sapiens small nuclear ribonucleoprotein D1 polypeptide 16kDa, mRNA (cDNA clone MGC:87720 IMAGE:6464946), complete cds.
LF342697 - JP 2014500723-A/150200: Polycomb-Associated Non-Coding RNAs.
AB451350 - Homo sapiens SNRPD1 mRNA for small nuclear ribonucleoprotein D1 polypeptide 16kDa, partial cds, clone: FLJ08014AAAF.
AB464217 - Synthetic construct DNA, clone: pF1KB6779, Homo sapiens SNRPD1 gene for small nuclear ribonucleoprotein D1 polypeptide, without stop codon, in Flexi system.
CR542239 - Homo sapiens full open reading frame cDNA clone RZPDo834F1125D for gene SNRPD1, small nuclear ribonucleoprotein D1 polypeptide 16kDa; complete cds, without stopcodon.
AB451227 - Homo sapiens SNRPD1 mRNA for small nuclear ribonucleoprotein D1 polypeptide 16kDa, complete cds, clone: FLJ08014AAAN.
JD345891 - Sequence 326915 from Patent EP1572962.
JD495811 - Sequence 476835 from Patent EP1572962.
JD499049 - Sequence 480073 from Patent EP1572962.
JD171388 - Sequence 152412 from Patent EP1572962.
JD145340 - Sequence 126364 from Patent EP1572962.
JD353735 - Sequence 334759 from Patent EP1572962.
JD446396 - Sequence 427420 from Patent EP1572962.
JD488588 - Sequence 469612 from Patent EP1572962.
JD059738 - Sequence 40762 from Patent EP1572962.
JD534843 - Sequence 515867 from Patent EP1572962.
JD366563 - Sequence 347587 from Patent EP1572962.
JD149425 - Sequence 130449 from Patent EP1572962.
JD517738 - Sequence 498762 from Patent EP1572962.
JD519139 - Sequence 500163 from Patent EP1572962.
JD180066 - Sequence 161090 from Patent EP1572962.
JD496208 - Sequence 477232 from Patent EP1572962.
JD181008 - Sequence 162032 from Patent EP1572962.
JD135979 - Sequence 117003 from Patent EP1572962.
JD514984 - Sequence 496008 from Patent EP1572962.
JD169871 - Sequence 150895 from Patent EP1572962.
JD169873 - Sequence 150897 from Patent EP1572962.
JD356386 - Sequence 337410 from Patent EP1572962.
JD356385 - Sequence 337409 from Patent EP1572962.
MA620809 - JP 2018138019-A/192735: Polycomb-Associated Non-Coding RNAs.
MA578274 - JP 2018138019-A/150200: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_smPathway - Spliceosomal Assembly

Reactome (by CSHL, EBI, and GO)

Protein P62314 (Reactome details) participates in the following event(s):

R-HSA-191790 Loading and methylation of Sm proteins onto SMN Complexes
R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex
R-HSA-72107 Formation of the Spliceosomal E complex
R-HSA-75083 ATAC spliceosome mediated 3' splice site cleavage, exon ligation
R-HSA-75080 Formation of AT-AC A complex
R-HSA-75079 Formation of AT-AC C complex
R-HSA-191830 snRNP nuclear import and release
R-HSA-72124 Formation of the Spliceosomal A Complex
R-HSA-191786 snRNP complex assembly
R-HSA-72127 Formation of the Spliceosomal B Complex
R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage
R-HSA-72139 Formation of the active Spliceosomal C (B*) complex
R-HSA-75081 Formation of AT-AC B Complex
R-HSA-75082 ATAC spliceosome mediated Lariat formation,5' splice site cleavage
R-HSA-156661 Formation of Exon Junction Complex
R-HSA-191763 snRNP:Snurportin complex formation
R-HSA-191784 snRNA Cap hypermethylation
R-HSA-191859 snRNP Assembly
R-HSA-194441 Metabolism of non-coding RNA
R-HSA-8953854 Metabolism of RNA
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72165 mRNA Splicing - Minor Pathway
R-HSA-72172 mRNA Splicing
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA

-  Other Names for This Gene
  Alternate Gene Symbols: B5BTZ1, ENST00000300413.1, ENST00000300413.2, ENST00000300413.3, ENST00000300413.4, ENST00000300413.5, ENST00000300413.6, ENST00000300413.7, ENST00000300413.8, ENST00000300413.9, NM_006938, P13641, P62314, SMD1_HUMAN, uc317mpi.1, uc317mpi.2
UCSC ID: ENST00000300413.10_5
RefSeq Accession: NM_006938.4
Protein: P62314 (aka SMD1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.