![]()
Imported Disease Annotations - MGIObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Bbip1 | Mouse | Bardet-Biedl syndrome 18 | | IAGP | | 13592920 | OMIM:615995 | MouseDO | | |
|
![]()
Imported Disease Annotations - MGIObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Bbip1 | Mouse | Bardet-Biedl syndrome 18 | | IAGP | | 13592920 | OMIM:615995 | MouseDO | | |
|
|
|
|
|
|
|
|
|
# | Reference Title | Reference Citation |
1. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
2. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8889548 | PMID:10349636 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:12040188 | PMID:12466851 | PMID:12477932 | PMID:14610273 | PMID:16141072 | PMID:16141073 |
PMID:18799693 | PMID:19081074 | PMID:21267068 | PMID:21873635 | PMID:24316073 | PMID:27687499 | PMID:32290105 | PMID:33426789 | PMID:38355793 |
Bbip1 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BBIP1 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bbip1 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bbip1 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BBIP1 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BBIP1 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bbip1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BBIP1 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BBIP1 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bbip1 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in Bbip1
400 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 |
RH133731 |
|
RefSeq Transcripts | NM_001195338 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001195348 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006526547 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006526550 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030250674 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036161364 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC117612 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK009096 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK010048 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK011271 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK011697 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK011849 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK016185 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC030472 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC037041 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC040803 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC054437 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC062276 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC094636 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466585 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSMUST00000135402 ⟹ ENSMUSP00000136324 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
Ensembl Acc Id: | ENSMUST00000235348 ⟹ ENSMUSP00000157613 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
Ensembl Acc Id: | ENSMUST00000235688 ⟹ ENSMUSP00000157634 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
Ensembl Acc Id: | ENSMUST00000236098 ⟹ ENSMUSP00000158055 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
Ensembl Acc Id: | ENSMUST00000236127 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
Ensembl Acc Id: | ENSMUST00000236370 ⟹ ENSMUSP00000158142 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
Ensembl Acc Id: | ENSMUST00000236885 ⟹ ENSMUSP00000158555 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
Ensembl Acc Id: | ENSMUST00000236900 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
Ensembl Acc Id: | ENSMUST00000237049 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001195338 ⟹ NP_001182267 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | NM_001195348 ⟹ NP_001182277 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_006526547 ⟹ XP_006526610 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_006526550 ⟹ XP_006526613 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_030250674 ⟹ XP_030106534 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_036161364 ⟹ XP_036017257 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
Protein RefSeqs | NP_001182267 | (Get FASTA) | NCBI Sequence Viewer |
NP_001182277 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006526610 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006526613 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030106534 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036017257 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | EDL01712 | (Get FASTA) | NCBI Sequence Viewer |
EDL01713 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000136324 | ||
ENSMUSP00000136324.2 | |||
ENSMUSP00000157613.2 | |||
ENSMUSP00000157634.2 | |||
ENSMUSP00000158055.2 | |||
ENSMUSP00000158142 | |||
ENSMUSP00000158142.2 | |||
ENSMUSP00000158555.2 |
Ensembl Acc Id: | ENSMUSP00000158555 ⟸ ENSMUST00000236885 |
Ensembl Acc Id: | ENSMUSP00000158055 ⟸ ENSMUST00000236098 |
Ensembl Acc Id: | ENSMUSP00000158142 ⟸ ENSMUST00000236370 |
Ensembl Acc Id: | ENSMUSP00000136324 ⟸ ENSMUST00000135402 |
Ensembl Acc Id: | ENSMUSP00000157634 ⟸ ENSMUST00000235688 |
Ensembl Acc Id: | ENSMUSP00000157613 ⟸ ENSMUST00000235348 |
RefSeq Acc Id: | NP_001182277 ⟸ NM_001195348 |
- UniProtKB: | J3QMK2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001182267 ⟸ NM_001195338 |
- UniProtKB: | J3QMK2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006526610 ⟸ XM_006526547 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_006526613 ⟸ XM_006526550 |
- Peptide Label: | isoform X3 |
- UniProtKB: | J3QMK2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_036017257 ⟸ XM_036161364 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_030106534 ⟸ XM_030250674 |
- Peptide Label: | isoform X3 |
- UniProtKB: | J3QMK2 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-J3QMK2-F1-model_v2 | AlphaFold | J3QMK2 | 1-67 | view protein structure |
RGD ID: | 13679796 | ||||||||
Promoter ID: | EPDNEW_M24047 | ||||||||
Type: | initiation region | ||||||||
Name: | Bbip1_1 | ||||||||
Description: | Mus musculus BBSome interacting protein 1 , transcript variant1, mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M24049 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 13679800 | ||||||||
Promoter ID: | EPDNEW_M24049 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | Bbip1_2 | ||||||||
Description: | Mus musculus BBSome interacting protein 1 , transcript variant1, mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M24047 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6829793 | ||||||||
Promoter ID: | MM_KWN:27360 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Brain, ES_Cell, Kidney, MEF_B4, Spleen | ||||||||
Transcripts: | NR_027828, NR_027828_NCRNA00081, UC008HXE.1 | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | MGI:1913610 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000084957 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000135402 | ENTREZGENE |
ENSMUST00000135402.4 | UniProtKB/TrEMBL | |
ENSMUST00000235348.2 | UniProtKB/TrEMBL | |
ENSMUST00000235688.2 | UniProtKB/TrEMBL | |
ENSMUST00000236098.2 | UniProtKB/TrEMBL | |
ENSMUST00000236370 | ENTREZGENE | |
ENSMUST00000236370.2 | UniProtKB/TrEMBL | |
ENSMUST00000236885.2 | UniProtKB/TrEMBL | |
InterPro | BBIP10 | UniProtKB/TrEMBL |
KEGG Report | mmu:100503572 | UniProtKB/TrEMBL |
MGD | MGI:1913610 | ENTREZGENE |
NCBI Gene | Bbip1 | ENTREZGENE |
PANTHER | BBSOME-INTERACTING PROTEIN 1 | UniProtKB/TrEMBL |
PTHR28596 | UniProtKB/TrEMBL | |
Pfam | BBIP10 | UniProtKB/TrEMBL |
PhenoGen | Bbip1 | PhenoGen |
UniProt | J3QMK2 | ENTREZGENE, UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2011-07-27 | Bbip1 | BBSome interacting protein 1 | Ncrna00081 | non-protein coding RNA 81 | Symbol and/or name change | 5135510 | APPROVED |