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| # | Reference Title | Reference Citation |
| 1. | Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR. | Fahim AT, etal., Adv Exp Med Biol. 2012;723:313-20. doi: 10.1007/978-1-4614-0631-0_41. |
| 2. | Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations. | Fahim AT, etal., PLoS One. 2011;6(8):e23021. doi: 10.1371/journal.pone.0023021. Epub 2011 Aug 12. |
| 3. | 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. |
| 4. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 5. | Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing. | Otto EA, etal., Hum Mutat. 2008 Mar;29(3):418-26. |
| 6. | Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. | Otto EA, etal., Nat Genet. 2005 Mar;37(3):282-8. Epub 2005 Feb 20. |
| 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 |
| 10. | Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. | Stone EM, etal., Arch Ophthalmol. 2011 Jan;129(1):81-7. doi: 10.1001/archophthalmol.2010.330. |
| 11. | Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. | Wang X, etal., Hum Mutat. 2011 Dec;32(12):1450-9. doi: 10.1002/humu.21587. Epub 2011 Sep 23. |
| Iqcb1 (Rattus norvegicus - Norway rat) |
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| IQCB1 (Homo sapiens - human) |
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| Iqcb1 (Mus musculus - house mouse) |
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| Iqcb1 (Chinchilla lanigera - long-tailed chinchilla) |
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| IQCB1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| IQCB1 (Canis lupus familiaris - dog) |
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| Iqcb1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| IQCB1 (Sus scrofa - pig) |
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| IQCB1 (Chlorocebus sabaeus - green monkey) |
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| Iqcb1 (Heterocephalus glaber - naked mole-rat) |
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| Iqcb1 (Rattus rattus - black rat) |
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.
Variants in Iqcb1
377 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 |
| RH130971 |
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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 | 67 | 165 | 91 | 90 | 59 | 92 | 59 | 6 | 356 | 192 | 11 | 144 | 81 | 92 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_001107092 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001437762 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001437763 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001437764 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001437765 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001437766 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001437767 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001437768 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001437769 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006248395 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006248396 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006248397 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008768730 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017597998 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039088353 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063270524 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063270525 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063270526 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_010055955 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC108269 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| CH473967 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000011 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000066616 ⟹ ENSRNOP00000061216 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000100750 ⟹ ENSRNOP00000078884 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | NM_001107092 ⟹ NP_001100562 | ||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_006248395 ⟹ XP_006248457 | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_006248396 ⟹ XP_006248458 | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_006248397 ⟹ XP_006248459 | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_008768730 ⟹ XP_008766952 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_039088353 ⟹ XP_038944281 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_063270524 ⟹ XP_063126594 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063270525 ⟹ XP_063126595 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063270526 ⟹ XP_063126596 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XR_010055955 | ||||||||
| Type: | NON-CODING | ||||||||
| Position: |
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| Protein RefSeqs | NP_001100562 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001424691 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001424692 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001424693 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001424694 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001424695 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001424696 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001424697 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001424698 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006248457 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006248458 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006248459 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_008766952 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038944281 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063126594 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063126595 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063126596 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | EDM11258 | (Get FASTA) | NCBI Sequence Viewer |
| EDM11259 | (Get FASTA) | NCBI Sequence Viewer | |
| EDM11260 | (Get FASTA) | NCBI Sequence Viewer | |
| EDM11261 | (Get FASTA) | NCBI Sequence Viewer | |
| EDM11262 | (Get FASTA) | NCBI Sequence Viewer | |
| EDM11263 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000061216 | ||
| ENSRNOP00000061216.2 | |||
| ENSRNOP00000078884 | |||
| ENSRNOP00000078884.1 |
| RefSeq Acc Id: | NP_001100562 ⟸ NM_001107092 |
| - UniProtKB: | D4A6J0 (UniProtKB/TrEMBL), A6IRA5 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_006248457 ⟸ XM_006248395 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
| RefSeq Acc Id: | XP_006248458 ⟸ XM_006248396 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
| RefSeq Acc Id: | XP_006248459 ⟸ XM_006248397 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
| RefSeq Acc Id: | XP_008766952 ⟸ XM_008768730 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000061216 ⟸ ENSRNOT00000066616 |
| RefSeq Acc Id: | XP_038944281 ⟸ XM_039088353 |
| - Peptide Label: | isoform X2 |
| Ensembl Acc Id: | ENSRNOP00000078884 ⟸ ENSRNOT00000100750 |
| RefSeq Acc Id: | XP_063126595 ⟸ XM_063270525 |
| - Peptide Label: | isoform X2 |
| RefSeq Acc Id: | XP_063126596 ⟸ XM_063270526 |
| - Peptide Label: | isoform X2 |
| RefSeq Acc Id: | XP_063126594 ⟸ XM_063270524 |
| - Peptide Label: | isoform X2 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-D4A6J0-F1-model_v2 | AlphaFold | D4A6J0 | 1-557 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| RGD ID: | 13698180 | ||||||||
| Promoter ID: | EPDNEW_R8704 | ||||||||
| Type: | multiple initiation site | ||||||||
| Name: | Iqcb1_1 | ||||||||
| Description: | IQ motif containing B1 | ||||||||
| 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:1310069 | AgrOrtholog |
| BioCyc Gene | G2FUF-21242 | BioCyc |
| Ensembl Genes | ENSRNOG00000038868 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
| Ensembl Transcript | ENSRNOT00000066616 | ENTREZGENE |
| ENSRNOT00000066616.3 | UniProtKB/TrEMBL | |
| ENSRNOT00000100750 | ENTREZGENE | |
| ENSRNOT00000100750.2 | UniProtKB/TrEMBL | |
| Gene3D-CATH | 1.20.5.190 | UniProtKB/TrEMBL |
| InterPro | IQ_CaM-bd_region | UniProtKB/TrEMBL |
| IQCB1 | UniProtKB/TrEMBL | |
| P-loop_NTPase | UniProtKB/TrEMBL | |
| KEGG Report | rno:303915 | UniProtKB/TrEMBL |
| NCBI Gene | 303915 | ENTREZGENE |
| PANTHER | IQ CALMODULIN-BINDING MOTIF-CONTAINING PROTEIN 1 | UniProtKB/TrEMBL |
| PTHR15673 | UniProtKB/TrEMBL | |
| Pfam | PF00612 | UniProtKB/TrEMBL |
| PhenoGen | Iqcb1 | PhenoGen |
| PROSITE | PS50096 | UniProtKB/TrEMBL |
| RatGTEx | ENSRNOG00000038868 | RatGTEx |
| SMART | SM00015 | UniProtKB/TrEMBL |
| Superfamily-SCOP | SSF52540 | UniProtKB/TrEMBL |
| UniProt | A0A8I5ZLP5 | ENTREZGENE, UniProtKB/TrEMBL |
| A6IRA5 | ENTREZGENE, UniProtKB/TrEMBL | |
| A6IRA9 | ENTREZGENE, UniProtKB/TrEMBL | |
| D4A6J0 | ENTREZGENE, UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2008-09-26 | Iqcb1 | IQ motif containing B1 | Iqcb1 | IQ calmodulin-binding motif containing 1 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2008-04-30 | Iqcb1 | IQ calmodulin-binding motif containing 1 | Iqcb1_predicted | IQ calmodulin-binding motif containing 1 (predicted) | 'predicted' is removed | 2292626 | APPROVED |
| 2005-01-12 | Iqcb1_predicted | IQ calmodulin-binding motif containing 1 (predicted) | Symbol and Name status set to approved | 70820 | APPROVED |