LMBRD1

LMBRD1
Identificadores
Nomes alternativos	LMBRD1
IDs externos	OMIM: 612625 HomoloGene: 10156 GeneCards: LMBRD1
Doenças Geneticamente Relacionadas
	methylmalonic aciduria and homocystinuria type cblF
Ontologia genética
Função molecular	• cobalamin binding; • insulin receptor binding; • GO:0102023, GO:0015235 ABC-type vitamin B12 transporter activity;
Componente celular	• integral component of membrane; • clathrin-coated endocytic vesicle; • lysosomal membrane; • membrana plasmática; • lisossoma; • membrane;
Processo biológico	• cobalamin metabolic process; • insulin receptor internalization; • negative regulation of glucose import; • GO:1903105 negative regulation of insulin receptor signaling pathway; • negative regulation of protein kinase B signaling; • GO:0022415 viral process; • cobalamin transport; • GO:0015915 transport;
	Sources:Amigo / QuickGO
Padrão de expressão RNA
	Mais dados de referência de expressão
Ortólogos
	55788
	n/a
	ENSG00000168216
	n/a
	Q9NUN5
	n/a
	NM_018368; NM_001363722; NM_001367271; NM_001367272
	n/a
	NP_060838; NP_001350651
	n/a
	Wikidata
Ver/Editar Humano

O provável transportador de cobalamina lisossomal é uma proteína que em humanos é codificada pelo gene LMBRD1.^[3]^[4]

Referências

↑ «Doenças geneticamente associadas a LMBRD1 ver/editar referências no wikidata»
↑ «Human PubMed Reference:»
↑ Rutsch F, Gailus S, Miousse IR, Suormala T, Sagne C, Toliat MR, Nurnberg G, Wittkampf T, Buers I, Sharifi A, Stucki M, Becker C, Baumgartner M, Robenek H, Marquardt T, Hohne W, Gasnier B, Rosenblatt DS, Fowler B, Nurnberg P (janeiro de 2009). «Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism». Nat Genet. 41 (2): 234–9. PMID 19136951. doi:10.1038/ng.294
↑ «Entrez Gene: LMBRD1 LMBR1 domain containing 1»

Leitura adicional[editar | editar código-fonte]

Wang YH, Chang SC, Huang C, et al. (2005). «Novel nuclear export signal-interacting protein, NESI, critical for the assembly of hepatitis delta virus.». J. Virol. 79 (13): 8113–20. PMC 1143724. PMID 15956556. doi:10.1128/JVI.79.13.8113-8120.2005
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
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
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
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
Zhang QH, Ye M, Wu XY, et al. (2001). «Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.». Genome Res. 10 (10): 1546–60. PMC 310934. PMID 11042152. doi:10.1101/gr.140200
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
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

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[1] «Doenças geneticamente associadas a LMBRD1 ver/editar referências no wikidata»

[2] «Human PubMed Reference:»

[pmid19136951-3] Rutsch F, Gailus S, Miousse IR, Suormala T, Sagne C, Toliat MR, Nurnberg G, Wittkampf T, Buers I, Sharifi A, Stucki M, Becker C, Baumgartner M, Robenek H, Marquardt T, Hohne W, Gasnier B, Rosenblatt DS, Fowler B, Nurnberg P (janeiro de 2009). «Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism». Nat Genet. 41 (2): 234–9. PMID 19136951. doi:10.1038/ng.294

[entrez-4] «Entrez Gene: LMBRD1 LMBR1 domain containing 1»

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