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| # | Reference Title | Reference Citation |
| 1. | The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase. | Coene KL, etal., Hum Mol Genet. 2011 Sep 15;20(18):3592-605. doi: 10.1093/hmg/ddr280. Epub 2011 Jun 17. |
| 2. | Null RPGRIP1 alleles in patients with Leber congenital amaurosis. | Dryja TP, etal., Am J Hum Genet. 2001 May;68(5):1295-8. Epub 2001 Mar 29. |
| 3. | Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy. | Hameed A, etal., J Med Genet. 2003 Aug;40(8):616-9. |
| 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. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 7. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 8. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| PMID:11104772 | PMID:12477932 | PMID:12651948 | PMID:18297065 | PMID:20592197 | PMID:21052544 | PMID:21521437 | PMID:25398945 | PMID:29899041 |
| Rpgrip1 (Rattus norvegicus - Norway rat) |
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| RPGRIP1 (Homo sapiens - human) |
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| Rpgrip1 (Mus musculus - house mouse) |
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| Rpgrip1 (Chinchilla lanigera - long-tailed chinchilla) |
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| RPGRIP1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| RPGRIP1 (Canis lupus familiaris - dog) |
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| Rpgrip1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| RPGRIP1 (Sus scrofa - pig) |
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| RPGRIP1 (Chlorocebus sabaeus - green monkey) |
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| Rpgrip1 (Heterocephalus glaber - naked mole-rat) |
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| Rpgrip1 (Rattus rattus - black rat) |
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.
Variants in Rpgrip1
343 total Variants
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| 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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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| AA997586 |
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| RH138387 |
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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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musculoskeletal system
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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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sensory system
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visual system
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 16 | 12 | 33 | 153 | 69 | 68 | 37 | 84 | 37 | 6 | 273 | 150 | 11 | 128 | 62 | 85 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_001427786 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_006221931 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006251921 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008770635 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017599867 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017599868 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017599869 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017599870 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017599871 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017599872 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017599873 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063274225 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063274226 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063274227 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063274228 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063274229 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC118113 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| BC097397 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH474040 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000015 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000060495 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000076459 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000094752 ⟹ ENSRNOP00000088204 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000118248 ⟹ ENSRNOP00000096739 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000135789 ⟹ ENSRNOP00000104944 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | NM_001427786 ⟹ NP_001414715 | ||||||||
| RefSeq Status: | VALIDATED | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063274225 ⟹ XP_063130295 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063274226 ⟹ XP_063130296 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063274227 ⟹ XP_063130297 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063274228 ⟹ XP_063130298 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063274229 ⟹ XP_063130299 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Protein RefSeqs | NP_001414715 | (Get FASTA) | NCBI Sequence Viewer |
| XP_063130295 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063130296 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063130297 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063130298 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063130299 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAH97397 | (Get FASTA) | NCBI Sequence Viewer |
| EDL88470 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000086411 | ||
| ENSRNOP00000086411.1 | |||
| ENSRNOP00000086671.2 | |||
| ENSRNOP00000088204.2 | |||
| ENSRNOP00000096739.1 | |||
| ENSRNOP00000104944 | |||
| ENSRNOP00000104944.1 |
| Ensembl Acc Id: | ENSRNOP00000088204 ⟸ ENSRNOT00000094752 |
| Ensembl Acc Id: | ENSRNOP00000096739 ⟸ ENSRNOT00000118248 |
| RefSeq Acc Id: | XP_063130299 ⟸ XM_063274229 |
| - Peptide Label: | isoform X5 |
| - UniProtKB: | A0A8I6A160 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | NP_001414715 ⟸ NM_001427786 |
| - UniProtKB: | A0A8I6A160 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063130295 ⟸ XM_063274225 |
| - Peptide Label: | isoform X1 |
| RefSeq Acc Id: | XP_063130298 ⟸ XM_063274228 |
| - Peptide Label: | isoform X4 |
| RefSeq Acc Id: | XP_063130296 ⟸ XM_063274226 |
| - Peptide Label: | isoform X2 |
| RefSeq Acc Id: | XP_063130297 ⟸ XM_063274227 |
| - Peptide Label: | isoform X3 |
| Ensembl Acc Id: | ENSRNOP00000104944 ⟸ ENSRNOT00000135789 |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:1310807 | AgrOrtholog |
| BioCyc Gene | G2FUF-13988 | BioCyc |
| Ensembl Genes | ENSRNOG00000011809 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
| Ensembl Transcript | ENSRNOT00000060495.5 | UniProtKB/TrEMBL |
| ENSRNOT00000076459 | ENTREZGENE | |
| ENSRNOT00000076459.4 | UniProtKB/TrEMBL | |
| ENSRNOT00000094752.2 | UniProtKB/TrEMBL | |
| ENSRNOT00000118248.2 | UniProtKB/TrEMBL | |
| ENSRNOT00000135789 | ENTREZGENE | |
| ENSRNOT00000135789.1 | UniProtKB/TrEMBL | |
| Gene3D-CATH | 2.60.40.150 | UniProtKB/TrEMBL |
| InterPro | C2-C2_1 | UniProtKB/TrEMBL |
| C2_dom | UniProtKB/TrEMBL | |
| C2_domain_sf | UniProtKB/TrEMBL | |
| RPGRIP1_C | UniProtKB/TrEMBL | |
| RPGRIP1_fam | UniProtKB/TrEMBL | |
| NCBI Gene | 305850 | ENTREZGENE |
| PANTHER | PTHR14240 | UniProtKB/TrEMBL |
| PTHR14240:SF3 | UniProtKB/TrEMBL | |
| Pfam | C2-C2_1 | UniProtKB/TrEMBL |
| PF00168 | UniProtKB/TrEMBL | |
| RPGR1_C | UniProtKB/TrEMBL | |
| PhenoGen | Rpgrip1 | PhenoGen |
| PROSITE | PS50004 | UniProtKB/TrEMBL |
| RatGTEx | ENSRNOG00000011809 | RatGTEx |
| SMART | SM00239 | UniProtKB/TrEMBL |
| Superfamily-SCOP | SSF49562 | UniProtKB/TrEMBL |
| UniProt | A0A8I6A160 | ENTREZGENE, UniProtKB/TrEMBL |
| A0A8I6A5S0_RAT | UniProtKB/TrEMBL | |
| A0A8I6APX2_RAT | UniProtKB/TrEMBL | |
| A0A8I6GGU8_RAT | UniProtKB/TrEMBL | |
| A0ABK0LJ71_RAT | UniProtKB/TrEMBL | |
| A6KEG5_RAT | UniProtKB/TrEMBL | |
| Q4V8G9_RAT | UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2017-08-09 | Rpgrip1 | RPGR interacting protein 1 | Rpgrip1 | retinitis pigmentosa GTPase regulator interacting protein 1 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2005-12-06 | Rpgrip1 | retinitis pigmentosa GTPase regulator interacting protein 1 | Rpgrip1_predicted | retinitis pigmentosa GTPase regulator interacting protein 1 (predicted) | Symbol and Name updated | 1559027 | APPROVED |
| 2005-01-12 | Rpgrip1_predicted | retinitis pigmentosa GTPase regulator interacting protein 1 (predicted) | Symbol and Name status set to approved | 70820 | APPROVED |