AHI1

AHI1
Estruturas disponíveis
PDB	Pesquisa Human UniProt: PDBe RCSB
Lista de códigos id do PDB
	4ESR
Identificadores
Nomes alternativos	AHI1, Jouberina
IDs externos	OMIM: 608894 HomoloGene: 9762 GeneCards: AHI1
Doenças Geneticamente Relacionadas
	esclerose múltipla, Joubert syndrome 3, Joubert syndrome with ocular defect, Joubert syndrome
Ontologia genética
Função molecular	• GO:0001948, GO:0016582 ligação a proteínas plasmáticas; • identical protein binding;
Componente celular	• citoplasma; • ciliary basal body; • citosol; • centrossoma; • cell projection; • MKS complex; • cell-cell junction; • junção aderente; • junção celular; • citoesqueleto; • centríolo; • cílio; • non-motile cilium;
Processo biológico	• cilium assembly; • pronephric nephron tubule morphogenesis; • regulation of behavior; • retina layer formation; • positive regulation of receptor internalization; • transmembrane receptor protein tyrosine kinase signaling pathway; • hindbrain development; • negative regulation of apoptotic process; • morphogenesis of a polarized epithelium; • photoreceptor cell outer segment organization; • otic vesicle development; • Kupffer's vesicle development; • heart looping; • specification of axis polarity; • central nervous system development; • cell projection organization; • cloaca development; • pronephric duct morphogenesis; • positive regulation of polarized epithelial cell differentiation; • vesicle-mediated transport; • left/right axis specification; • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II; • diferenciação celular; • ciliary basal body-plasma membrane docking; • multicellular organism development;
	Sources:Amigo / QuickGO
Padrão de expressão RNA
	; ; ; ;
	Mais dados de referência de expressão
Ortólogos
	54806
	n/a
	ENSG00000135541
	n/a
	Q8N157
	n/a
NM_001134830; NM_001134831; NM_001134832; NM_017651; NM_001350503;
	NM_001350504
	n/a
NP_001128302; NP_001128303; NP_001128304; NP_060121; NP_001337432;
	NP_001337433
	n/a
	Wikidata
Ver/Editar Humano

O sítio 1 de integração de ajudante de Abelson (AHI1) é um gene de codificação de proteínas que é conhecido pelo papel crítico que desempenha no desenvolvimento do cérebro. O desenvolvimento cerebelar e cortical adequado no cérebro humano depende fortemente do AHI1. O gene AHI1 é proeminentemente expresso no rombencéfalo embrionário e no prosencéfalo.^[3] O AHI1 codifica especificamente a proteína Jouberin e sabe-se que mutações na expressão do gene causam formas específicas da síndrome de Joubert.^[4]^[5]^[6] Jouberina é uma proteína que em humanos é codificada pelo gene AHI1.^[7]^[8]^[9]

Referências

↑ «Doenças geneticamente associadas a AHI1 ver/editar referências no wikidata»
↑ «Human PubMed Reference:»
↑ Dixon-Salazar, Tracy; Silhavy, Jennifer L.; Marsh, Sarah E.; Louie, Carrie M.; Scott, Lesley C.; Gururaj, Aithala; Al-Gazali, Lihadh; Al-Tawari, Asma A.; Kayserili, Hulya (1 de dezembro de 2004). «Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria». American Journal of Human Genetics. 75 (6): 979–987. ISSN 0002-9297. PMC 1182159. PMID 15467982. doi:10.1086/425985
↑ Saraiva, JM; Baraitser, M (1992). «Joubert syndrome: a review». American Journal of Medical Genetics. 43 (4): 726–731. PMID 1341417. doi:10.1002/ajmg.1320430415
↑ Joubert M, Eisenring JJ, Robb JP, Andermann F (setembro de 1969). «Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation». Neurology. 19 (9): 813–25. PMID 5816874. doi:10.1212/wnl.19.9.813
↑ Amann-Zalcenstein, Daniela; Avidan, Nili; Kanyas, Kyra; Ebstein, Richard P.; Kohn, Yoav; Hamdan, Adnan; Ben-Asher, Edna; Karni, Osnat; Mujaheed, Muhammed (14 de junho de 2006). «AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia». European Journal of Human Genetics (em inglês). 14 (10): 1111–1119. ISSN 1018-4813. PMID 16773125. doi:10.1038/sj.ejhg.5201675
↑ Lagier-Tourenne C, Boltshauser E, Breivik N, Gribaa M, Betard C, Barbot C, Koenig M (abril de 2004). «Homozygosity mapping of a third Joubert syndrome locus to 6q23». J Med Genet. 41 (4): 273–7. PMC 1735723. PMID 15060101. doi:10.1136/jmg.2003.014787
↑ Utsch B, Sayer JA, Attanasio M, Pereira RR, Eccles M, Hennies HC, Otto EA, Hildebrandt F (março de 2006). «Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome». Pediatr Nephrol. 21 (1): 32–5. PMID 16240161. doi:10.1007/s00467-005-2054-y
↑ «Entrez Gene: AHI1 Abelson helper integration site 1»

Leitura adicional

Maruyama K, Sugano S (1994). «Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides». Gene. 138 (1–2): 171–4. PMID 8125298. doi:10.1016/0378-1119(94)90802-8
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). «Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library». Gene. 200 (1–2): 149–56. PMID 9373149. doi:10.1016/S0378-1119(97)00411-3
Hartley JL, Temple GF, Brasch MA (2001). «DNA Cloning Using In Vitro Site-Specific Recombination». Genome Res. 10 (11): 1788–95. PMC 310948. PMID 11076863. doi:10.1101/gr.143000
Wiemann S, Weil B, Wellenreuther R, et al. (2001). «Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs». Genome Res. 11 (3): 422–35. PMC 311072. PMID 11230166. doi:10.1101/gr.GR1547R
Jiang X, Hanna Z, Kaouass M, et al. (2002). «Ahi-1, a Novel Gene Encoding a Modular Protein with WD40-Repeat and SH3 Domains, Is Targeted by the Ahi-1 and Mis-2 Provirus Integrations». J. Virol. 76 (18): 9046–59. PMC 136442. PMID 12186888. doi:10.1128/JVI.76.18.9046-9059.2002
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). «Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences». Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. PMC 139241. PMID 12477932. doi:10.1073/pnas.242603899
Mungall AJ, Palmer SA, Sims SK, et al. (2003). «The DNA sequence and analysis of human chromosome 6». Nature. 425 (6960): 805–11. PMID 14574404. doi:10.1038/nature02055
Ota T, Suzuki Y, Nishikawa T, et al. (2004). «Complete sequencing and characterization of 21,243 full-length human cDNAs». Nat. Genet. 36 (1): 40–5. PMID 14702039. doi:10.1038/ng1285
Jiang X, Zhao Y, Chan WY, et al. (2004). «Deregulated expression in Ph+ human leukemias of AHI-1, a gene activated by insertional mutagenesis in mouse models of leukemia». Blood. 103 (10): 3897–904. PMID 14751929. doi:10.1182/blood-2003-11-4026
Close J, Game L, Clark B, et al. (2004). «Genome annotation of a 1.5 Mb region of human chromosome 6q23 encompassing a quantitative trait locus for fetal hemoglobin expression in adults». BMC Genomics. 5 (1). 33 páginas. PMC 441375. PMID 15169551. doi:10.1186/1471-2164-5-33
Ferland RJ, Eyaid W, Collura RV, et al. (2004). «Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome». Nat. Genet. 36 (9): 1008–13. PMID 15322546. doi:10.1038/ng1419
Dixon-Salazar T, Silhavy JL, Marsh SE, et al. (2005). «Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria». Am. J. Hum. Genet. 75 (6): 979–87. PMC 1182159. PMID 15467982. doi:10.1086/425985
Gerhard DS, Wagner L, Feingold EA, et al. (2004). «The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)». Genome Res. 14 (10B): 2121–7. PMC 528928. PMID 15489334. doi:10.1101/gr.2596504
Wiemann S, Arlt D, Huber W, et al. (2004). «From ORFeome to Biology: A Functional Genomics Pipeline». Genome Res. 14 (10B): 2136–44. PMC 528930. PMID 15489336. doi:10.1101/gr.2576704
Parisi MA, Doherty D, Eckert ML, et al. (2006). «AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome». J. Med. Genet. 43 (4): 334–9. PMC 2563230. PMID 16155189. doi:10.1136/jmg.2005.036608
Mehrle A, Rosenfelder H, Schupp I, et al. (2006). «The LIFEdb database in 2006». Nucleic Acids Res. 34 (Database issue): D415–8. PMC 1347501. PMID 16381901. doi:10.1093/nar/gkj139
Valente EM, Brancati F, Silhavy JL, et al. (2006). «AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders». Ann. Neurol. 59 (3): 527–34. PMID 16453322. doi:10.1002/ana.20749
Amann-Zalcenstein D, Avidan N, Kanyas K, et al. (2006). «AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia». Eur. J. Hum. Genet. 14 (10): 1111–9. PMID 16773125. doi:10.1038/sj.ejhg.5201675

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[1] «Doenças geneticamente associadas a AHI1 ver/editar referências no wikidata»

[2] «Human PubMed Reference:»

[:0-3] Dixon-Salazar, Tracy; Silhavy, Jennifer L.; Marsh, Sarah E.; Louie, Carrie M.; Scott, Lesley C.; Gururaj, Aithala; Al-Gazali, Lihadh; Al-Tawari, Asma A.; Kayserili, Hulya (1 de dezembro de 2004). «Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria». American Journal of Human Genetics. 75 (6): 979–987. ISSN 0002-9297. PMC 1182159. PMID 15467982. doi:10.1086/425985

[4] Saraiva, JM; Baraitser, M (1992). «Joubert syndrome: a review». American Journal of Medical Genetics. 43 (4): 726–731. PMID 1341417. doi:10.1002/ajmg.1320430415

[Joubert,_1969-5] Joubert M, Eisenring JJ, Robb JP, Andermann F (setembro de 1969). «Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation». Neurology. 19 (9): 813–25. PMID 5816874. doi:10.1212/wnl.19.9.813

[6] Amann-Zalcenstein, Daniela; Avidan, Nili; Kanyas, Kyra; Ebstein, Richard P.; Kohn, Yoav; Hamdan, Adnan; Ben-Asher, Edna; Karni, Osnat; Mujaheed, Muhammed (14 de junho de 2006). «AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia». European Journal of Human Genetics (em inglês). 14 (10): 1111–1119. ISSN 1018-4813. PMID 16773125. doi:10.1038/sj.ejhg.5201675

[pmid15060101-7] Lagier-Tourenne C, Boltshauser E, Breivik N, Gribaa M, Betard C, Barbot C, Koenig M (abril de 2004). «Homozygosity mapping of a third Joubert syndrome locus to 6q23». J Med Genet. 41 (4): 273–7. PMC 1735723. PMID 15060101. doi:10.1136/jmg.2003.014787

[pmid16240161-8] Utsch B, Sayer JA, Attanasio M, Pereira RR, Eccles M, Hennies HC, Otto EA, Hildebrandt F (março de 2006). «Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome». Pediatr Nephrol. 21 (1): 32–5. PMID 16240161. doi:10.1007/s00467-005-2054-y

[entrez-9] «Entrez Gene: AHI1 Abelson helper integration site 1»

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