Alstrom syndrome (WP5202)
Homo sapiens
Alström syndrome
Authors
Manon Van Der Pas , Edme Snijders , Friederike Ehrhart , and Eric WeitzActivity
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Organisms
Homo sapiensCommunities
Rare DiseasesAnnotations
Disease Ontology
Alstrom syndromePathway Ontology
disease pathway| Label | Type | Compact URI | Comment |
|---|---|---|---|
| DNM3 | GeneProduct | ensembl:ENSG00000197959 | |
| VCPIP1 | GeneProduct | ensembl:ENSG00000175073 | |
| VCP | GeneProduct | ensembl:ENSG00000165280 | In literature described as p97 |
| NSFL1C | GeneProduct | ensembl:ENSG00000088833 | In literature described as p47 |
| STX5 | GeneProduct | ensembl:ENSG00000162236 | Syntaxin-5, a SNARE protein |
| RFX1 | GeneProduct | ensembl:ENSG00000132005 | |
| TFDP2 | GeneProduct | ensembl:ENSG00000114126 | In the reference it was mentioned TFDP3, but the human equivalent is TFDP2. |
| PIFO | GeneProduct | ensembl:ENSG00000173947 | |
| E2F4 | GeneProduct | ensembl:ENSG00000205250 | |
| IFT172 | GeneProduct | ensembl:ENSG00000138002 | |
| SMO | GeneProduct | ensembl:ENSG00000128602 | |
| CEP192 | GeneProduct | ensembl:ENSG00000101639 | |
| RFX3 | GeneProduct | ensembl:ENSG00000080298 | |
| IFT81 | GeneProduct | ensembl:ENSG00000122970 | |
| PTCH1 | GeneProduct | ensembl:ENSG00000185920 | |
| MYO5B | GeneProduct | ensembl:ENSG00000167306 | |
| RILPL1 | GeneProduct | ensembl:ENSG00000188026 | |
| ALMS1 | GeneProduct | ensembl:ENSG00000116127 | |
| RFX2 | GeneProduct | ensembl:ENSG00000087903 | |
| IFT74 | GeneProduct | ensembl:ENSG00000096872 | |
| CEP19 | GeneProduct | ensembl:ENSG00000174007 | |
| ACTN4 | GeneProduct | ensembl:ENSG00000130402 | |
| TUBG1 | GeneProduct | ensembl:ENSG00000131462 | |
| GPR161 | GeneProduct | ensembl:ENSG00000143147 | |
| RABL2A | GeneProduct | ensembl:ENSG00000144134 | |
| HSPB11 | GeneProduct | ensembl:ENSG00000081870 | Found in mice, this is called 'IFT25' |
| IFT27 | GeneProduct | ensembl:ENSG00000100360 | |
| BLOC1S4 | GeneProduct | ensembl:ENSG00000186222 | |
| SNAPIN | GeneProduct | ensembl:ENSG00000143553 | |
| BLOC1S6 | Protein | ensembl:ENSG00000104164 | |
| GPRASP2 | Protein | ensembl:ENSG00000158301 | |
| DTNBP1 | Protein | ensembl:ENSG00000047579 | |
| ALMS1 | Protein | ensembl:ENSG00000116127 | |
| BLOC1S1 | Protein | ensembl:ENSG00000135441 |
References
- VCIP135, a novel essential factor for p97/p47-mediated membrane fusion, is required for Golgi and ER assembly in vivo. Uchiyama K, Jokitalo E, Kano F, Murata M, Zhang X, Canas B, et al. J Cell Biol. 2002 Dec 9;159(5):855–66. PubMed Europe PMC Scholia
- A functionally distinct member of the DP family of E2F subunits. Milton A, Luoto K, Ingram L, Munro S, Logan N, Graham AL, et al. Oncogene. 2006 May 25;25(22):3212–8. PubMed Europe PMC Scholia
- Human Cep192 is required for mitotic centrosome and spindle assembly. Gomez-Ferreria MA, Rath U, Buster DW, Chanda SK, Caldwell JS, Rines DR, et al. Curr Biol. 2007 Nov 20;17(22):1960–6. PubMed Europe PMC Scholia
- Dysbindin promotes the post-endocytic sorting of G protein-coupled receptors to lysosomes. Marley A, von Zastrow M. PLoS One. 2010 Feb 19;5(2):e9325. PubMed Europe PMC Scholia
- Transcriptional regulation of the Alström syndrome gene ALMS1 by members of the RFX family and Sp1. Purvis TL, Hearn T, Spalluto C, Knorz VJ, Hanley KP, Sanchez-Elsner T, et al. Gene. 2010 Jul 15;460(1–2):20–9. PubMed Europe PMC Scholia
- Proteomic analysis of mitotic RNA polymerase II reveals novel interactors and association with proteins dysfunctional in disease. Möller A, Xie SQ, Hosp F, Lang B, Phatnani HP, James S, et al. Mol Cell Proteomics. 2012 Jun;11(6):M111.011767. PubMed Europe PMC Scholia
- The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway. Collin GB, Marshall JD, King BL, Milan G, Maffei P, Jagger DJ, et al. PLoS One. 2012;7(5):e37925. PubMed Europe PMC Scholia
- Molecular basis of tubulin transport within the cilium by IFT74 and IFT81. Bhogaraju S, Cajanek L, Fort C, Blisnick T, Weber K, Taschner M, et al. Science. 2013 Aug 30;341(6149):1009–12. PubMed Europe PMC Scholia
- Cep192 controls the balance of centrosome and non-centrosomal microtubules during interphase. O’Rourke BP, Gomez-Ferreria MA, Berk RH, Hackl AMU, Nicholas MP, O’Rourke SC, et al. PLoS One. 2014 Jun 27;9(6):e101001. PubMed Europe PMC Scholia
- IFT27 links the BBSome to IFT for maintenance of the ciliary signaling compartment. Eguether T, San Agustin JT, Keady BT, Jonassen JA, Liang Y, Francis R, et al. Dev Cell. 2014 Nov 10;31(3):279–90. PubMed Europe PMC Scholia
- Pitchfork and Gprasp2 Target Smoothened to the Primary Cilium for Hedgehog Pathway Activation. Jung B, Padula D, Burtscher I, Landerer C, Lutter D, Theis F, et al. PLoS One. 2016 Feb 22;11(2):e0149477. PubMed Europe PMC Scholia
- Membrane fission by dynamin: what we know and what we need to know. Antonny B, Burd C, De Camilli P, Chen E, Daumke O, Faelber K, et al. EMBO J. 2016 Nov 2;35(21):2270–84. PubMed Europe PMC Scholia
- RABL2 interacts with the intraflagellar transport-B complex and CEP19 and participates in ciliary assembly. Nishijima Y, Hagiya Y, Kubo T, Takei R, Katoh Y, Nakayama K. Mol Biol Cell. 2017 Jun 15;28(12):1652–66. PubMed Europe PMC Scholia
- BLOC-1 is required for selective membrane protein trafficking from endosomes to primary cilia. Monis WJ, Faundez V, Pazour GJ. J Cell Biol. 2017 Jul 3;216(7):2131–50. PubMed Europe PMC Scholia
- ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits. Hearn T. J Mol Med (Berl). 2019 Jan;97(1):1–17. PubMed Europe PMC Scholia
- IFT172 as the 19th gene causative of oral-facial-digital syndrome. Yamada M, Uehara T, Suzuki H, Takenouchi T, Fukushima H, Morisada N, et al. Am J Med Genet A. 2019 Dec;179(12):2510–3. PubMed Europe PMC Scholia