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| # | Reference Title | Reference Citation |
| 1. | Association of common variants in the Joubert syndrome gene (AHI1) with autism. | Alvarez Retuerto AI, etal., Hum Mol Genet. 2008 Dec 15;17(24):3887-96. doi: 10.1093/hmg/ddn291. Epub 2008 Sep 9. |
| 2. | A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report. | Chafai-Elalaoui S, etal., J Med Case Rep. 2015 Nov 5;9:254. doi: 10.1186/s13256-015-0732-3. |
| 3. | Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. | Dixon-Salazar T, etal., Am J Hum Genet 2004 Dec;75(6):979-87. Epub 2004 Oct 04. |
| 4. | Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. | Ferland RJ, etal., Nat Genet. 2004 Sep;36(9):1008-13. Epub 2004 Aug 22. |
| 5. | 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. |
| 6. | Regulation of AHI1 expression in adult rat brain: Implication in hypothalamic feeding control. | Han SB, etal., Biochem Biophys Res Commun. 2009 Dec 18;390(3):535-40. doi: 10.1016/j.bbrc.2009.09.133. Epub 2009 Oct 9. |
| 7. | DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands. | Kroes HY, etal., Eur J Med Genet. 2008 Jan-Feb;51(1):24-34. Epub 2007 Oct 6. |
| 8. | Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. | Lancaster MA, etal., Nat Med. 2011 Jun;17(6):726-31. doi: 10.1038/nm.2380. Epub 2011 May 29. |
| 9. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 10. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 11. | AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. | Parisi MA, etal., J Med Genet. 2006 Apr;43(4):334-9. Epub 2005 Sep 9. |
| 12. | The characterization of Abelson helper integration site-1 in skeletal muscle and its links to the metabolic syndrome. | Prior MJ, etal., Metabolism. 2010 Jul;59(7):1057-64. doi: 10.1016/j.metabol.2009.11.002. Epub 2009 Dec 31. |
| 13. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 14. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 15. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 16. | High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. | Tory K, etal., J Am Soc Nephrol. 2007 May;18(5):1566-75. Epub 2007 Apr 4. |
| 17. | AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. | Valente EM, etal., Ann Neurol. 2006 Mar;59(3):527-34. |
| 18. | Loss of Ahi1 affects early development by impairing BM88/Cend1-mediated neuronal differentiation. | Weng L, etal., J Neurosci. 2013 May 8;33(19):8172-84. doi: 10.1523/JNEUROSCI.0119-13.2013. |
| 19. | The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families. | Zaki MS, etal., Neurology. 2008 Feb 12;70(7):556-65. doi: 10.1212/01.wnl.0000277644.12087.fd. |
| PMID:12186888 | PMID:18633336 | PMID:18636121 | PMID:18936234 | PMID:19625297 | PMID:19718039 | PMID:20081859 | PMID:20592197 | PMID:20956301 | PMID:21959375 | PMID:22179047 | PMID:23532844 |
| PMID:29899041 |
| Ahi1 (Rattus norvegicus - Norway rat) |
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| AHI1 (Homo sapiens - human) |
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| Ahi1 (Mus musculus - house mouse) |
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| Ahi1 (Chinchilla lanigera - long-tailed chinchilla) |
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| AHI1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| AHI1 (Canis lupus familiaris - dog) |
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| Ahi1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| AHI1 (Sus scrofa - pig) |
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| AHI1 (Chlorocebus sabaeus - green monkey) |
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| Ahi1 (Heterocephalus glaber - naked mole-rat) |
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| Ahi1 (Rattus rattus - black rat) |
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.
Variants in Ahi1
621 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 |
| D1Rat148 |
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| RH131918 |
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| RH143155 |
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| AW531129 |
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| BE121279 |
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| RH137467 |
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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_001002277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_063263007 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063263009 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063263011 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063263018 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063263023 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063263025 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063263027 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063263028 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063263029 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063263033 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_010052942 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AH011785 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AY647140 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| FQ226565 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000001 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000019076 ⟹ ENSRNOP00000019077 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000075461 ⟹ ENSRNOP00000067868 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000095156 ⟹ ENSRNOP00000086069 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000097444 ⟹ ENSRNOP00000080424 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000097948 ⟹ ENSRNOP00000096340 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000100225 ⟹ ENSRNOP00000090824 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | NM_001002277 ⟹ NP_001002277 | ||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_063263007 ⟹ XP_063119077 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063263009 ⟹ XP_063119079 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063263011 ⟹ XP_063119081 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063263018 ⟹ XP_063119088 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063263023 ⟹ XP_063119093 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063263025 ⟹ XP_063119095 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063263027 ⟹ XP_063119097 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063263028 ⟹ XP_063119098 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063263029 ⟹ XP_063119099 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063263033 ⟹ XP_063119103 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XR_010052942 | ||||||||
| Type: | NON-CODING | ||||||||
| Position: |
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| Protein RefSeqs | NP_001002277 | (Get FASTA) | NCBI Sequence Viewer |
| XP_063119077 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063119079 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063119081 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063119088 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063119093 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063119095 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063119097 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063119098 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063119099 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063119103 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAM94632 | (Get FASTA) | NCBI Sequence Viewer |
| AAT66919 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000019077 | ||
| ENSRNOP00000080424 | |||
| ENSRNOP00000086069 | |||
| GenBank Protein | Q6DTM3 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_001002277 ⟸ NM_001002277 |
| - UniProtKB: | Q6DTM3 (UniProtKB/Swiss-Prot) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000019077 ⟸ ENSRNOT00000019076 |
| Ensembl Acc Id: | ENSRNOP00000067868 ⟸ ENSRNOT00000075461 |
| Ensembl Acc Id: | ENSRNOP00000080424 ⟸ ENSRNOT00000097444 |
| Ensembl Acc Id: | ENSRNOP00000090824 ⟸ ENSRNOT00000100225 |
| Ensembl Acc Id: | ENSRNOP00000096340 ⟸ ENSRNOT00000097948 |
| Ensembl Acc Id: | ENSRNOP00000086069 ⟸ ENSRNOT00000095156 |
| RefSeq Acc Id: | XP_063119088 ⟸ XM_063263018 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | Q6DTM3 (UniProtKB/Swiss-Prot) |
| RefSeq Acc Id: | XP_063119093 ⟸ XM_063263023 |
| - Peptide Label: | isoform X3 |
| - UniProtKB: | Q6DTM3 (UniProtKB/Swiss-Prot) |
| RefSeq Acc Id: | XP_063119077 ⟸ XM_063263007 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | F1M9F9 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063119097 ⟸ XM_063263027 |
| - Peptide Label: | isoform X4 |
| - UniProtKB: | A0A8I6A5B3 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063119098 ⟸ XM_063263028 |
| - Peptide Label: | isoform X5 |
| - UniProtKB: | A0A8I6AF27 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063119081 ⟸ XM_063263011 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | Q6DTM3 (UniProtKB/Swiss-Prot) |
| RefSeq Acc Id: | XP_063119095 ⟸ XM_063263025 |
| - Peptide Label: | isoform X3 |
| - UniProtKB: | Q6DTM3 (UniProtKB/Swiss-Prot) |
| RefSeq Acc Id: | XP_063119079 ⟸ XM_063263009 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | F1M9F9 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063119099 ⟸ XM_063263029 |
| - Peptide Label: | isoform X6 |
| RefSeq Acc Id: | XP_063119103 ⟸ XM_063263033 |
| - Peptide Label: | isoform X7 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-M0RE04-F1-model_v2 | AlphaFold | M0RE04 | 1-141 | view protein structure |
| AF-Q6DTM3-F1-model_v2 | AlphaFold | Q6DTM3 | 1-1047 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:1303040 | AgrOrtholog |
| BioCyc Gene | G2FUF-62184 | BioCyc |
| Ensembl Genes | ENSRNOG00000013969 | Ensembl, ENTREZGENE |
| ENSRNOG00000046617 | Ensembl | |
| Ensembl Transcript | ENSRNOT00000019076 | ENTREZGENE |
| ENSRNOT00000095156 | ENTREZGENE | |
| ENSRNOT00000097444 | ENTREZGENE | |
| Gene3D-CATH | 2.130.10.10 | UniProtKB/Swiss-Prot |
| SH3 Domains | UniProtKB/Swiss-Prot | |
| InterPro | AHI1_SH3 | UniProtKB/Swiss-Prot |
| Cilium-Associated_Jouberin | UniProtKB/Swiss-Prot | |
| SH3-like_dom_sf | UniProtKB/Swiss-Prot | |
| SH3_domain | UniProtKB/Swiss-Prot | |
| WD40/YVTN_repeat-like_dom_sf | UniProtKB/Swiss-Prot | |
| WD40_repeat | UniProtKB/Swiss-Prot | |
| WD40_repeat_dom_sf | UniProtKB/Swiss-Prot | |
| KEGG Report | rno:308923 | UniProtKB/Swiss-Prot |
| NCBI Gene | 308923 | ENTREZGENE |
| PANTHER | JOUBERIN | UniProtKB/Swiss-Prot |
| JOUBERIN | UniProtKB/Swiss-Prot | |
| Pfam | SH3_1 | UniProtKB/Swiss-Prot |
| WD40 | UniProtKB/Swiss-Prot | |
| PhenoGen | Ahi1 | PhenoGen |
| PRINTS | SH3DOMAIN | UniProtKB/Swiss-Prot |
| PROSITE | SH3 | UniProtKB/Swiss-Prot |
| WD_REPEATS_2 | UniProtKB/Swiss-Prot | |
| WD_REPEATS_REGION | UniProtKB/Swiss-Prot | |
| RatGTEx | ENSRNOG00000013969 | RatGTEx |
| ENSRNOG00000046617 | RatGTEx | |
| SMART | SH3 | UniProtKB/Swiss-Prot |
| WD40 | UniProtKB/Swiss-Prot | |
| Superfamily-SCOP | SSF50044 | UniProtKB/Swiss-Prot |
| SSF50978 | UniProtKB/Swiss-Prot | |
| UniProt | A0A8I5ZQ93_RAT | UniProtKB/TrEMBL |
| A0A8I6A5B3 | ENTREZGENE, UniProtKB/TrEMBL | |
| A0A8I6AF27 | ENTREZGENE | |
| AHI1_RAT | UniProtKB/Swiss-Prot | |
| F1M9F9 | ENTREZGENE, UniProtKB/TrEMBL | |
| Q6DTM3 | ENTREZGENE |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2021-03-09 | Ahi1 | Abelson helper integration site 1 | LOC103690149 | jouberin-like | Data merged from RGD:9410822 | 737654 | PROVISIONAL |
| 2014-08-25 | LOC103690149 | jouberin-like | Symbol and Name status set to provisional | 70820 | PROVISIONAL | ||
| 2005-02-14 | Ahi1 | Abelson helper integration site 1 | Symbol and Name status set to provisional | 70820 | PROVISIONAL |