Imported Disease Annotations - MGIObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Sbf1 | Rat | Charcot-Marie-Tooth disease type 4B3 | | ISS | Sbf1 (Mus musculus) | 13592920 | OMIM:615284 | MouseDO | | |
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Imported Disease Annotations - MGIObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Sbf1 | Rat | Charcot-Marie-Tooth disease type 4B3 | | ISS | Sbf1 (Mus musculus) | 13592920 | OMIM:615284 | MouseDO | | |
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# | Reference Title | Reference Citation |
1. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
2. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
3. | Splicing mutation in Sbf1 causes nonsyndromic male infertility in the rat. | Liška F, etal., Reproduction. 2016 Sep;152(3):215-23. doi: 10.1530/REP-16-0042. Epub 2016 Jun 22. |
4. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
5. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
6. | GOA pipeline | RGD automated data pipeline |
7. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
8. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
9. | Comprehensive gene review and curation | RGD comprehensive gene curation |
PMID:9537414 | PMID:11994405 | PMID:16787938 | PMID:20937701 | PMID:25931508 |
Sbf1 (Rattus norvegicus - Norway rat) |
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SBF1 (Homo sapiens - human) |
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Sbf1 (Mus musculus - house mouse) |
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Sbf1 (Chinchilla lanigera - long-tailed chinchilla) |
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SBF1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SBF1 (Canis lupus familiaris - dog) |
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Sbf1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SBF1 (Sus scrofa - pig) |
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SBF1 (Chlorocebus sabaeus - green monkey) |
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Sbf1 (Heterocephalus glaber - naked mole-rat) |
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Variants in Sbf1
63 total Variants |
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. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
RH140186 |
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SBF1_8611 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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nervous system
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renal system
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reproductive system
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respiratory system
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9 | 11 | 49 | 113 | 91 | 90 | 59 | 25 | 59 | 6 | 218 | 97 | 93 | 45 | 60 | 31 |
RefSeq Transcripts | NM_001271173 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006242184 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017594775 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017594776 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017594777 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039078877 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039078878 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039078879 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063263346 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | JAXUCZ010000007 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSRNOT00000072955 ⟹ ENSRNOP00000066598 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSRNOT00000119425 ⟹ ENSRNOP00000090211 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001271173 ⟹ NP_001258102 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039078877 ⟹ XP_038934805 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039078878 ⟹ XP_038934806 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039078879 ⟹ XP_038934807 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_063263346 ⟹ XP_063119416 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001258102 | (Get FASTA) | NCBI Sequence Viewer |
XP_038934805 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038934806 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038934807 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063119416 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000066598.1 | ||
ENSRNOP00000090211.1 |
RefSeq Acc Id: | NP_001258102 ⟸ NM_001271173 |
- UniProtKB: | M0RAP5 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSRNOP00000066598 ⟸ ENSRNOT00000072955 |
RefSeq Acc Id: | XP_038934806 ⟸ XM_039078878 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038934805 ⟸ XM_039078877 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038934807 ⟸ XM_039078879 |
- Peptide Label: | isoform X4 |
Ensembl Acc Id: | ENSRNOP00000090211 ⟸ ENSRNOT00000119425 |
RefSeq Acc Id: | XP_063119416 ⟸ XM_063263346 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8I6AD51 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-M0RAP5-F1-model_v2 | AlphaFold | M0RAP5 | 1-1893 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13695580 | ||||||||
Promoter ID: | EPDNEW_R6105 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | Sbf1_1 | ||||||||
Description: | SET binding factor 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | RGD:1307090 | AgrOrtholog |
BioCyc Gene | G2FUF-32450 | BioCyc |
Ensembl Genes | ENSRNOG00000008392 | Ensembl, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000072955.4 | UniProtKB/TrEMBL |
ENSRNOT00000119425.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.30.29.30 | UniProtKB/TrEMBL |
3.30.450.200 | UniProtKB/TrEMBL | |
3.40.50.11500 | UniProtKB/TrEMBL | |
InterPro | dDENN_dom | UniProtKB/TrEMBL |
DENN_C | UniProtKB/TrEMBL | |
DENN_dom | UniProtKB/TrEMBL | |
GRAM | UniProtKB/TrEMBL | |
Myotub-related | UniProtKB/TrEMBL | |
Myotubularin_fam | UniProtKB/TrEMBL | |
PH_like_dom | UniProtKB/TrEMBL | |
Pleckstrin_homology | UniProtKB/TrEMBL | |
Prot-tyrosine_phosphatase-like | UniProtKB/TrEMBL | |
SBF2 | UniProtKB/TrEMBL | |
Tripartite_DENN | UniProtKB/TrEMBL | |
uDENN_dom | UniProtKB/TrEMBL | |
KEGG Report | rno:300147 | UniProtKB/TrEMBL |
NCBI Gene | 300147 | ENTREZGENE |
PANTHER | PTHR10807 | UniProtKB/TrEMBL |
PTHR10807:SF43 | UniProtKB/TrEMBL | |
Pfam | DENN | UniProtKB/TrEMBL |
GRAM | UniProtKB/TrEMBL | |
Myotub-related | UniProtKB/TrEMBL | |
PF00169 | UniProtKB/TrEMBL | |
SBF2 | UniProtKB/TrEMBL | |
uDENN | UniProtKB/TrEMBL | |
PhenoGen | Sbf1 | PhenoGen |
PROSITE | DENN | UniProtKB/TrEMBL |
PH_DOMAIN | UniProtKB/TrEMBL | |
PPASE_MYOTUBULARIN | UniProtKB/TrEMBL | |
RatGTEx | ENSRNOG00000008392 | RatGTEx |
SMART | dDENN | UniProtKB/TrEMBL |
DENN | UniProtKB/TrEMBL | |
GRAM | UniProtKB/TrEMBL | |
SM00233 | UniProtKB/TrEMBL | |
uDENN | UniProtKB/TrEMBL | |
Superfamily-SCOP | PH domain-like | UniProtKB/TrEMBL |
SSF52799 | UniProtKB/TrEMBL | |
UniProt | A0A8I6AD51 | ENTREZGENE, UniProtKB/TrEMBL |
M0RAP5 | ENTREZGENE, UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2008-04-30 | Sbf1 | SET binding factor 1 | Sbf1_predicted | SET binding factor 1 (predicted) | 'predicted' is removed | 2292626 | APPROVED |
2005-01-12 | Sbf1_predicted | SET binding factor 1 (predicted) | Symbol and Name status set to approved | 70820 | APPROVED |