Alstrom syndrome (Homo sapiens)

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171811161511118105111, 211, 103413769Membrane fissionTubulin transportRegulation of Smo ciliary translocationand Hh signallingRecruiting to centrosomeRNA polymerase IIImportant for sustaining transcriptional activity of RNAPIIMeadiates endosomal traffickingCART complexNucleation of centrosomal microtubulesPlays roles in primary cilia formation and function, and also in Shh signaling and Gli3 repressor activityTransport of polycystin-2 and trafficks proteinsBLOC-1Removal of Smo Ptch1 and GPR161 from ciliumGPCRs sortingFunctions associated with Shh signalingIn case of serum-starvationTransport of Gli2to tip of ciliumRecycling of endosomesTFDP2RFX1E2F4NSFL1CVCPBLOC1S6PIFOVCPIP1STX5GPRASP2DNM3IFT172SMOCEP192RFX3DTNBP1IFT81PTCH1MYO5BRILPL1ALMS1RFX2IFT74ALMS1CEP19ACTN4TUBG1GPR161RABL2AHSPB11IFT27Functions associated with microtubules and cytoskeletonFunctions associated with endosomesFunctions associated transcription of ALMS1 andhow ALMS1 influences transcription of other genesBLOC1S4BLOC1S1SNAPINFunctions associated with membraneDNM3VCPIP1VCPNSFL1CSTX5Membrane fusionRegulates target genes and transcriptionof those genes


Description

Alström syndrome

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Quality Tags

Ontology Terms

 

Bibliography

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  1. Möller A, Xie SQ, Hosp F, Lang B, Phatnani HP, James S, Ramirez F, Collin GB, Naggert JK, Babu MM, Greenleaf AL, Selbach M, Pombo A; ''Proteomic analysis of mitotic RNA polymerase II reveals novel interactors and association with proteins dysfunctional in disease.''; Mol Cell Proteomics, 2012 PubMed Europe PMC Scholia
  2. Uchiyama K, Jokitalo E, Kano F, Murata M, Zhang X, Canas B, Newman R, Rabouille C, Pappin D, Freemont P, Kondo H; ''VCIP135, a novel essential factor for p97/p47-mediated membrane fusion, is required for Golgi and ER assembly in vivo.''; J Cell Biol, 2002 PubMed Europe PMC Scholia
  3. Xie Y, Gao L, Xu C, Chu L, Wu R, Liu Y, Liu T, Sun XJ, Ren R, Tang J, Zheng Y, Zhou Y, Shen S; ''ARHGEF12 regulates erythropoiesis and is involved in erythroid regeneration after chemotherapy in acute lymphoblastic leukemia patients.''; Haematologica, 2020 PubMed Europe PMC Scholia
  4. Marley A, von Zastrow M; ''Dysbindin promotes the post-endocytic sorting of G protein-coupled receptors to lysosomes.''; PLoS One, 2010 PubMed Europe PMC Scholia
  5. Springelkamp H, Iglesias AI, Cuellar-Partida G, Amin N, Burdon KP, van Leeuwen EM, Gharahkhani P, Mishra A, van der Lee SJ, Hewitt AW, Rivadeneira F, Viswanathan AC, Wolfs RC, Martin NG, Ramdas WD, van Koolwijk LM, Pennell CE, Vingerling JR, Mountain JE, Uitterlinden AG, Hofman A, Mitchell P, Lemij HG, Wang JJ, Klaver CC, Mackey DA, Craig JE, van Duijn CM, MacGregor S; ''ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.''; Hum Mol Genet, 2015 PubMed Europe PMC Scholia
  6. Yamada M, Uehara T, Suzuki H, Takenouchi T, Fukushima H, Morisada N, Tominaga K, Onoda M, Kosaki K; ''IFT172 as the 19th gene causative of oral-facial-digital syndrome.''; Am J Med Genet A, 2019 PubMed Europe PMC Scholia
  7. Hearn T; ''ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits.''; J Mol Med (Berl), 2019 PubMed Europe PMC Scholia
  8. Collin GB, Marshall JD, King BL, Milan G, Maffei P, Jagger DJ, Naggert JK; ''The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway.''; PLoS One, 2012 PubMed Europe PMC Scholia
  9. Milton A, Luoto K, Ingram L, Munro S, Logan N, Graham AL, Brummelkamp TR, Hijmans EM, Bernards R, La Thangue NB; ''A functionally distinct member of the DP family of E2F subunits.''; Oncogene, 2006 PubMed Europe PMC Scholia
  10. Bhogaraju S, Cajanek L, Fort C, Blisnick T, Weber K, Taschner M, Mizuno N, Lamla S, Bastin P, Nigg EA, Lorentzen E; ''Molecular basis of tubulin transport within the cilium by IFT74 and IFT81.''; Science, 2013 PubMed Europe PMC Scholia
  11. Gomez-Ferreria MA, Rath U, Buster DW, Chanda SK, Caldwell JS, Rines DR, Sharp DJ; ''Human Cep192 is required for mitotic centrosome and spindle assembly.''; Curr Biol, 2007 PubMed Europe PMC Scholia
  12. Jung B, Padula D, Burtscher I, Landerer C, Lutter D, Theis F, Messias AC, Geerlof A, Sattler M, Kremmer E, Boldt K, Ueffing M, Lickert H; ''Pitchfork and Gprasp2 Target Smoothened to the Primary Cilium for Hedgehog Pathway Activation.''; PLoS One, 2016 PubMed Europe PMC Scholia
  13. Monis WJ, Faundez V, Pazour GJ; ''BLOC-1 is required for selective membrane protein trafficking from endosomes to primary cilia.''; J Cell Biol, 2017 PubMed Europe PMC Scholia
  14. Nishijima Y, Hagiya Y, Kubo T, Takei R, Katoh Y, Nakayama K; ''RABL2 interacts with the intraflagellar transport-B complex and CEP19 and participates in ciliary assembly.''; Mol Biol Cell, 2017 PubMed Europe PMC Scholia
  15. O'Rourke BP, Gomez-Ferreria MA, Berk RH, Hackl AM, Nicholas MP, O'Rourke SC, Pelletier L, Sharp DJ; ''Cep192 controls the balance of centrosome and non-centrosomal microtubules during interphase.''; PLoS One, 2014 PubMed Europe PMC Scholia
  16. Eguether T, San Agustin JT, Keady BT, Jonassen JA, Liang Y, Francis R, Tobita K, Johnson CA, Abdelhamed ZA, Lo CW, Pazour GJ; ''IFT27 links the BBSome to IFT for maintenance of the ciliary signaling compartment.''; Dev Cell, 2014 PubMed Europe PMC Scholia
  17. Antonny B, Burd C, De Camilli P, Chen E, Daumke O, Faelber K, Ford M, Frolov VA, Frost A, Hinshaw JE, Kirchhausen T, Kozlov MM, Lenz M, Low HH, McMahon H, Merrifield C, Pollard TD, Robinson PJ, Roux A, Schmid S; ''Membrane fission by dynamin: what we know and what we need to know.''; EMBO J, 2016 PubMed Europe PMC Scholia
  18. Purvis TL, Hearn T, Spalluto C, Knorz VJ, Hanley KP, Sanchez-Elsner T, Hanley NA, Wilson DI; ''Transcriptional regulation of the Alström syndrome gene ALMS1 by members of the RFX family and Sp1.''; Gene, 2010 PubMed Europe PMC Scholia

History

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CompareRevisionActionTimeUserComment
128813view13:34, 22 February 2024EweitzAdd some padding
128812view13:33, 22 February 2024EweitzEconomize layout
128811view04:59, 22 February 2024EweitzCenter key node, economize layout
128810view04:45, 22 February 2024EweitzEconomize layout
128809view03:30, 22 February 2024EweitzAvoid undue interaction overlap
128808view03:29, 22 February 2024EweitzEconomize layout
128807view03:27, 22 February 2024EweitzEconomize layout
128806view03:12, 22 February 2024EweitzAvoid undue interaction overlap
128805view03:10, 22 February 2024EweitzEconomize layout
128804view03:03, 22 February 2024EweitzCenter area labels
128803view03:02, 22 February 2024EweitzRefine rearranged interaction
128802view02:58, 22 February 2024EweitzEconomize layout
128801view02:54, 22 February 2024EweitzEconomize layout
128800view02:38, 22 February 2024EweitzEconomize layout
128799view02:30, 22 February 2024EweitzEconomize layout
128798view02:08, 22 February 2024EweitzEconomize layout, standardize case
122439view08:09, 6 April 2022Fehrhartconnected unconnected lines
122438view08:07, 6 April 2022FehrhartOntology Term : 'disease pathway' added !
122395view18:10, 28 March 2022MvanderPasMinor aesthetic changes
122269view10:43, 17 March 2022MvanderPasCorrected spelling mistake
121741view20:06, 1 March 2022MvanderPasIdentifier IFT172
121693view09:21, 25 February 2022MvanderPasOntology Term : 'Alstrom syndrome' added !
121673view10:44, 24 February 2022EdmeesnijdersModified title
121672view10:44, 24 February 2022Edmeesnijders
121661view20:49, 23 February 2022MvanderPasModified title
121660view20:45, 23 February 2022MvanderPas
121659view20:44, 23 February 2022MvanderPasNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
ACTN4GeneProductENSG00000130402 (Ensembl)
ALMS1ProteinENSG00000116127 (Ensembl)
BLOC1S1ProteinENSG00000135441 (Ensembl)
BLOC1S4GeneProductENSG00000186222 (Ensembl)
BLOC1S6ProteinENSG00000104164 (Ensembl)
CEP192GeneProductENSG00000101639 (Ensembl)
CEP19GeneProductENSG00000174007 (Ensembl)
DNM3GeneProductENSG00000197959 (Ensembl)
DTNBP1ProteinENSG00000047579 (Ensembl)
E2F4GeneProductENSG00000205250 (Ensembl)
GPR161GeneProductENSG00000143147 (Ensembl)
GPRASP2ProteinENSG00000158301 (Ensembl)
HSPB11GeneProductENSG00000081870 (Ensembl) Found in mice, this is called 'IFT25'
IFT172GeneProductIFT172 (HGNC)
IFT27GeneProductENSG00000100360 (Ensembl)
IFT74GeneProductENSG00000096872 (Ensembl)
IFT81GeneProductENSG00000122970 (Ensembl)
MYO5BGeneProductENSG00000167306 (Ensembl)
NSFL1CGeneProductENSG00000088833 (Ensembl) In literature described as p47
PIFOGeneProductENSG00000173947 (Ensembl)
PTCH1GeneProductENSG00000185920 (Ensembl)
RABL2AGeneProductENSG00000144134 (Ensembl)
RFX1GeneProductENSG00000132005 (Ensembl)
RFX2GeneProductENSG00000087903 (Ensembl)
RFX3GeneProductENSG00000080298 (Ensembl)
RILPL1GeneProductENSG00000188026 (Ensembl)
SMOGeneProductENSG00000128602 (Ensembl)
SNAPINGeneProductENSG00000143553 (Ensembl)
STX5GeneProductENSG00000162236 (Ensembl) Syntaxin-5, a SNARE protein
TFDP2GeneProductENSG00000114126 (Ensembl) In the reference it was mentioned TFDP3, but the human equivalent is TFDP2.
TUBG1GeneProductENSG00000131462 (Ensembl)
VCPGeneProductENSG00000165280 (Ensembl) In literature described as p97
VCPIP1GeneProductENSG00000175073 (Ensembl)

Annotated Interactions

No annotated interactions

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