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| Gene: Smpd1 (sphingomyelin phosphodiesterase 1) Rattus norvegicus |  Analyze |
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Analyze GeneStrainQTL List
 Functional Annotation unavailable |
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Annotation Distribution |
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| Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ceroid lipofuscinosis, neuronal 6 | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 6 | ClinVar | PMID:12369017 more ... | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type A | ClinVar | PMID:17011332 more ... | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type A | ClinVar | PMID:15877209 more ... | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type A | ClinVar | PMID:26499107 | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis | ClinVar | PMID:1391960 more ... | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis | ClinVar | PMID:16642440 more ... | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis | ClinVar | PMID:28492532 | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis | ClinVar | PMID:25741868 | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by OMIM:257200 | ClinVar | PMID:24718843 | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by OMIM:257200 | ClinVar | PMID:12607113 more ... | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by OMIM:257200 | ClinVar | PMID:17360762 more ... | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by OMIM:257200 | ClinVar | PMID:15877209 more ... | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by OMIM:257200 | ClinVar | PMID:17011332 more ... | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis | ClinVar | PMID:1391960 more ... | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis | ClinVar | PMID:24033266 PMID:25741868 | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type A | ClinVar | PMID:14681755 more ... | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis | ClinVar | PMID:11932991 more ... | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by OMIM:257200 | ClinVar | PMID:12369017 more ... | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by OMIM:257200 | ClinVar | PMID:23356216 PMID:23757202 | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by OMIM:257200 | ClinVar | PMID:12556236 more ... | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis | ClinVar | PMID:15221801 PMID:25741868 | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis | ClinVar | PMID:12369017 | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by OMIM:257200 | ClinVar | PMID:26851525 | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by OMIM:257200 | ClinVar | | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by OMIM:257200 | ClinVar | PMID:19405096 | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by OMIM:257200 | ClinVar | PMID:1301192 | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by OMIM:257200 | ClinVar | PMID:1718266 | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by OMIM:257200 | ClinVar | PMID:14681755 more ... | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by OMIM:257200 | ClinVar | PMID:15221801 | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by OMIM:257200 | ClinVar | PMID:15241805 more ... | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by OMIM:257200 | ClinVar | PMID:15221801 PMID:18052040 | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by OMIM:257200 | ClinVar | PMID:12369017 more ... | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by OMIM:257200 | ClinVar | PMID:12369017 more ... | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by OMIM:257200 | ClinVar | PMID:12369017 more ... | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by OMIM:257200 | ClinVar | PMID:12369017 more ... | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis | ClinVar | PMID:11932991 more ... | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis | ClinVar | PMID:14681755 more ... | Niemann-Pick disease type A | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis | ClinVar | PMID:25920558 | Niemann-Pick disease type B | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis | ClinVar | PMID:25741868 | Niemann-Pick disease type B | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar | PMID:26499107 | Niemann-Pick disease type B | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis | ClinVar | PMID:1391960 more ... | Niemann-Pick disease type B | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar | PMID:23757202 PMID:23891399 | Niemann-Pick disease type B | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis | ClinVar | PMID:16642440 more ... | Niemann-Pick disease type B | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar | PMID:25741868 PMID:28492532 | Niemann-Pick disease type B | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar | PMID:12369017 more ... | Niemann-Pick disease type B | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar | PMID:15877209 more ... | Niemann-Pick disease type B | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar | PMID:12607113 more ... | Niemann-Pick disease type B | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis | ClinVar | PMID:1391960 more ... | Niemann-Pick disease type B | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis | ClinVar | PMID:24033266 PMID:25741868 | Niemann-Pick disease type B | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis | ClinVar | PMID:11932991 more ... | Niemann-Pick disease type B | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar | PMID:12369017 more ... | Niemann-Pick disease type B | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar | PMID:23356216 PMID:23757202 | Niemann-Pick disease type B | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis | ClinVar | PMID:15221801 PMID:25741868 | Niemann-Pick disease type B | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis | ClinVar | PMID:12369017 | Niemann-Pick disease type B | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by OMIM:607616 | ClinVar | PMID:1301192 | Niemann-Pick disease type B | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar | PMID:14681755 more ... | Niemann-Pick disease type B | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by OMIM:607616 | ClinVar | | Niemann-Pick disease type B | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by OMIM:607616 | ClinVar | PMID:23757202 | Niemann-Pick disease type B | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar | PMID:11932991 more ... | Niemann-Pick disease type B | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar | PMID:12369017 more ... | Niemann-Pick disease type B | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis | ClinVar | PMID:14681755 more ... | Niemann-Pick disease type B | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis | ClinVar | PMID:25920558 | Niemann-Pick disease type B | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar | PMID:17011332 more ... | Niemann-Pick disease type B | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar | PMID:28492532 | Niemann-Pick disease, intermediate, protracted neurovisceral | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Niemann-pick disease, intermediate, protracted neurovisceral | ClinVar | PMID:14681755 more ... | Niemann-Pick disease, intermediate, protracted neurovisceral | | ISO | RGD:1349414 | 8554872 | ClinVar Annotator: match by term: Niemann-pick disease, intermediate, protracted neurovisceral | ClinVar | PMID:17360762 more ... | |
Imported Annotations - CTD
Imported Annotations - OMIM
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsBiological Process
Cellular Component
Molecular Function
Molecular Pathway AnnotationsImported Annotations - KEGG (archival)
Imported Annotations - PID (archival)
Disease AnnotationsGene-Chemical Interaction Annotations
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Gene Ontology AnnotationsBiological Process
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Cellular Component
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Molecular Function
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Molecular Pathway AnnotationsReferences - curated| 1. | Baranowski M, etal., Prostaglandins Other Lipid Mediat. 2007 Feb;83(1-2):99-111. Epub 2006 Nov 16. |
| 2. | Becker S, etal., Biol Chem. 2007 Feb;388(2):185-96. |
| 3. | Gorska M, etal., Horm Metab Res. 2004 Jan;36(1):14-21. |
| 4. | Lang PA, etal., Nat Med. 2007 Feb;13(2):164-70. Epub 2007 Jan 28. |
| 5. | Loidl A, etal., J Biol Chem. 2003 Aug 29;278(35):32921-8. Epub 2003 Jun 19. |
| 6. | Nassogne MC, etal., Toxicol Appl Pharmacol. 2004 Jan 15;194(2):101-10. |
| 7. | OMIM Disease Annotation Pipeline |
| 8. | Pipeline to import KEGG annotations from KEGG into RGD |
| 9. | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
| 10. | RGD automated data pipeline |
| 11. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 12. | RGD automated import pipeline for gene-chemical interactions |
| 13. | RGD comprehensive gene curation |
| 14. | Sikora J, etal., Ann Hum Genet. 2003 Jan;67(Pt 1):63-70. |
| 15. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
References - uncuratedRGD Disease Portals| Smpd1 has been annotated in the following RGD Disease Portals. |
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Genomics
Comparative Map Data| Smpd1 (Rattus norvegicus - Norway rat) |
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| SMPD1 (Homo sapiens - human) |
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| Smpd1 (Mus musculus - house mouse) |
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| Smpd1 (Chinchilla lanigera - long-tailed chinchilla) |
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| SMPD1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| SMPD1 (Canis lupus familiaris - dog) |
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| Smpd1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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Position Markers| AF206720 |
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| RH130448 |
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| Smpd1 |
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| RH134756 |
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| UniSTS:235734 |
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| SMPD1_855 |
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| Smpd1 |
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QTLs in Region (Rnor_6.0)| The following QTLs overlap with this region. |  | Full Report | | CSV | | TAB | | Printer | | Gviewer |
miRNA Target Status
Predicted Target Of
| The detailed report is available here: | | Full Report | | CSV | | TAB | | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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Sequence
Nucleotide Sequences| RefSeq Transcripts | NM_001006997 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| GenBank Nucleotide | AAHX01007681 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AC097992 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC083780 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH473956 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | NM_001006997 | ||||||||||||||||||||||||
| RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
TGTCTCCAGAGCTACTGGGGCCCCGAGGGCCAGCCAGGGCCTCGGCCTGCGGGGCCTGGAGGGGhide sequence |
Protein Sequences| Protein RefSeqs | NP_001006998 | (Get FASTA) | NCBI Sequence Viewer |
| GenBank Protein | AAH83780 | (Get FASTA) | NCBI Sequence Viewer |
| EDM18044 | (Get FASTA) | NCBI Sequence Viewer | |
| EDM18045 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| Protein Acc Id: | NP_001006998 |
| Sequence: |
MPHHGASSGQGHLRAGWEQRLERSLPAPKLGLLWMGLGLALVLALFDSTVLWVPARAYPLPSQGhide sequence |
TranscriptomeStrain Variation
Strain Sequence Variants
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Additional Information
External Database Links| Database | Acc Id | Source(s) |
| Ensembl Genes | ENSRNOG00000017977 | ENTREZGENE, UniProtKB/TrEMBL |
| Ensembl Protein | ENSRNOP00000024224 | ENTREZGENE, UniProtKB/TrEMBL |
| Ensembl Transcript | ENSRNOT00000024224 | ENTREZGENE, UniProtKB/TrEMBL |
| Gene3D-CATH | 3.60.21.10 | UniProtKB/TrEMBL |
| IMAGE_CLONE | IMAGE:7096039 | IMAGE-MGC_LOAD |
| InterPro | M-pesterase | UniProtKB/TrEMBL |
| Metallo-depent_PP-like | UniProtKB/TrEMBL | |
| Saposin-like | UniProtKB/TrEMBL | |
| SaposinB | UniProtKB/TrEMBL | |
| Sphingomy_PDE | UniProtKB/TrEMBL | |
| KEGG Report | rno:308909 | UniProtKB/TrEMBL |
| MGC_CLONE | MGC:94748 | IMAGE-MGC_LOAD |
| NCBI Gene | 308909 | ENTREZGENE |
| Pfam | Metallophos | UniProtKB/TrEMBL |
| PharmGKB | SMPD1 | RGD |
| PhenoGen | Smpd1 | PhenoGen |
| PIRSF | Sphingomy_PDE | UniProtKB/TrEMBL |
| PROSITE | SAP_B | UniProtKB/TrEMBL |
| SMART | SapB | UniProtKB/TrEMBL |
| Superfamily-SCOP | Saposin_like | UniProtKB/TrEMBL |
| UniGene | Rn.18277 | ENTREZGENE |
| UniProt | Q5XIA6 | ENTREZGENE, UniProtKB/TrEMBL |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2015-12-16 | Smpd1 | sphingomyelin phosphodiesterase 1 | Smpd1 | sphingomyelin phosphodiesterase 1, acid lysosomal | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2006-03-30 | Smpd1 | sphingomyelin phosphodiesterase 1, acid lysosomal | Symbol and Name status set to approved | 1299863 | APPROVED | ||
| 2005-09-15 | Smpd1 | sphingomyelin phosphodiesterase 1, acid lysosomal | Symbol and Name status set to provisional | 70820 | PROVISIONAL |
| More on Smpd1 | |
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Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: rn5 rn6 |
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NCBI Genome Data Viewer |
| RGD Object Information | |
| RGD ID: | 1549719 |
| Created: | 2005-09-15 |
| Species: | Rattus norvegicus |
| Last Modified: | 2018-04-10 |
| Status: | ACTIVE |
