Gene Gene information from NCBI Gene database.
Entrez ID 6632
Gene name Small nuclear ribonucleoprotein D1 polypeptide
Gene symbol SNRPD1
Synonyms (NCBI Gene)
HsT2456SMD1SNRPDSm-D1
Chromosome 18
Chromosome location 18q11.2
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 contact
miRNA miRNA information provided by mirtarbase database.
586
miRTarBase ID miRNA Experiments Reference
MIRT019490 hsa-miR-148b-3p Microarray 17612493
MIRT024897 hsa-miR-215-5p Microarray 19074876
MIRT026601 hsa-miR-192-5p Microarray 19074876
MIRT029768 hsa-miR-26b-5p Microarray 19088304
MIRT048162 hsa-miR-196a-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
63
GO ID Ontology Definition Evidence Reference
GO:0000243 Component Commitment complex IBA
GO:0000245 Process Spliceosomal complex assembly TAS 7527560
GO:0000387 Process Spliceosomal snRNP assembly IBA
GO:0000387 Process Spliceosomal snRNP assembly IDA 18984161
GO:0000387 Process Spliceosomal snRNP assembly IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601063 11158 ENSG00000167088
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P62314
Protein name Small nuclear ribonucleoprotein Sm D1 (Sm-D1) (Sm-D autoantigen) (snRNP core protein D1)
Protein function Plays a role in pre-mRNA splicing as a core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:19325628, PubMed:23333303, Pu
PDB 1B34 , 3CW1 , 3JCR , 3PGW , 4F7U , 4PJO , 4V98 , 4WZJ , 5MQF , 5O9Z , 5XJC , 5XJL , 5XJQ , 5XJR , 5XJS , 5XJT , 5XJU , 5YZG , 5Z56 , 5Z57 , 5Z58 , 6AH0 , 6AHD , 6FF7 , 6ICZ , 6ID0 , 6ID1 , 6QDV , 6QW6 , 6QX9 , 6Y53 , 6Y5Q , 7A5P , 7ABG , 7ABI , 7B0Y , 7DVQ , 7EVO , 7QTT , 7VPX , 7W59 , 7W5A , 7W5B , 8C6J , 8CH6 , 8H6E , 8H6J , 8H6K , 8H6L , 8HK1 , 8I0P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01423 LSM 5 70 LSM domain Domain
Sequence
MKLVRFLMKLSHETVTIELKNGTQVHGTITGVDVSMNTHLKAVKMTLKNREPVQLETLSI
RGNNIRYFIL
PDSLPLDTLLVDVEPKVKSKKREAVAGRGRGRGRGRGRGRGRGRGGPRR
Sequence length 119
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Spliceosome
Systemic lupus erythematosus
  snRNP Assembly
mRNA Splicing - Major Pathway
mRNA Splicing - Minor Pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma of Lung Associate 32149105, 38017020
★☆☆☆☆
Found in Text Mining only
Alopecia Associate 28790444
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Inhibit 39486415
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Associate 14524621
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 37098488
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 37014321
★☆☆☆☆
Found in Text Mining only
Carcinoma Non Small Cell Lung Associate 34299277
★☆☆☆☆
Found in Text Mining only
COVID 19 Associate 35657140
★☆☆☆☆
Found in Text Mining only
Death Associate 40082221
★☆☆☆☆
Found in Text Mining only
Exanthema Associate 28790444
★☆☆☆☆
Found in Text Mining only