ABCD4 - ATP binding cassette subfamily D member 4-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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5826 ABCD4

基因描述

Type	Description
Definition	ATP binding cassette subfamily D member 4

研究结论

Date	Results	Publications
2020-09-19 16:29:00	Cryo-EM structure of human lysosomal cobalamin exporter ABCD4.	31467407
2019-03-16 12:54:00	Utilizing whole-exome sequencing, we found two novel MTR variants c.871C>T (p.Pro291Ser) and c.1771C>T (p.Arg591*) in Patient 1, and a ABCD4 homozygous variant c.423C>G (p.Asn141Lys) in Patient 2. Our study identified the first Cobalamin Gpatient and cobalamin J patient in mainland China, and highlighted comprehensive metabolic analyses and genetic tests in patients suspected of cobalamin defects	30651581
2018-05-05 11:52:00	endogenous ABCD4 was localized to both lysosomes and the ER, and its lysosomal localization was disturbed by knockout of LMBRD1	27456980
2017-08-05 10:32:00	Data suggest that ABCD4 lysosomal targeting depends on co-expression of and interaction with LMBRD1; mutations in LMBRD1 and ABCD4 that result in cobalamin metabolism disorders cblF and cblJ (or mutations in ATPase domain) disrupt interactions between LMBRD1 and ABCD4. (LMBRD1 = nuclear export signal-interacting protein; ABCD4 = ATP-binding cassette, sub-family D (ALD), member 4)	28572511
2017-02-18 10:08:00	ABCD1 and ABCD2 are involved in the transport of long and very long chain fatty acids (VLCFA) or their CoA-derivatives into peroxisomes with different substrate specificities, while ABCD3 is involved in the transport of branched chain acyl-CoA into peroxisomes.ABCD4 is deduced to take part in the transport of vitamin B12 from lysosomes into the cytosol.	27766264

名称对应

Type	IDs
Synonymous	ABC41, EST352188, MAHCJ, P70R, P79R, PMP69, PXMP1L
Gene	UniProtKB-ID: ABCD4_HUMAN, A0A024R6B9_HUMAN UniprotKB: O14678, A0A024R6B9 UniParc: UPI000004C4C8 EMBL: Y14322, AK291332, Y14321, CR457104, BT007412, Y14320, Y14319, Y14318, CH471061, Y14323, BC012815, AF009746 Ensembl: ENSG00000119688 KO: hsa:5826
Nucleutide sequences	EMBL-CDS: AAB83967.1, AAP36080.1, CAA74699.1, BAF84021.1, AAH12815.1, CAG33385.1, EAW81172.1, EAW81167.1 Gene_ORFName: hCG_21713 Ensembl_TRS: ENST00000356924
Protein sequencees	Ensembl_PRO: ENSP00000349396 RefSeq: XP_024305446.1, NP_001340534.1, NP_001340520.1, XP_024305444.1, XP_016877020.1, XP_016877029.1, XP_024305443.1, NP_001340538.1, NP_001340529.1, XP_011535343.1, NP_001340521.1, NP_001340535.1, NP_001340527.1, NP_001340533.1, NP_001340522.1, NP_064720.1, NP_001340524.1, XP_005267997.1, XP_016877023.1, NP_005041.1, NP_001340537.1, NP_001340525.1, XP_024305447.1, NP_001340532.1, XP_016877030.1, NP_001340536.1, NP_001340539.1, XP_016877028.1, XP_005267999.1, NP_001340530.1, NP_001340523.1, XP_016877031.1, NP_001340526.1, NP_001340531.1, XP_024305445.1, NP_001340528.1, NP_064730.1
Others	UniRef100: UniRef100_O14678 UniRef90: UniRef90_O14678 UniRef50: UniRef50_O14678 UniGene: Hs.94395 CCDS: CCDS9828.1

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Pubmed编号	文献信息	发表日期	相关基因
31467407	Cryo-EM structure of human lysosomal cobalamin exporter ABCD4. Cell Res Da Xu , Zhang Feng , Wen-Tao Hou , Yong-Liang Jiang , Liang Wang , Linfeng Sun , Cong-Zhao Zhou , Yuxing Chen	2019-12-01	-
30651581	Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations. J. Hum. Genet. Yi Liu , Lulu Kang , Dongxiao Li , Ying Jin , Jinqing Song , Haixia Li , Junjuan Wang , Yanling Yang	2019-04-01	-
30021884	Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Mol Cell Proteomics Domenico Fasci , Hugo van Ingen , Richard A Scheltema , Albert J R Heck	2018-10-01	-
28572511	Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B₁₂-trafficking proteins ABCD4 and LMBD1. J Biol Chem Victoria Fettelschoss , Patricie Burda , Corinne SagnÃ© , David Coelho , Corinne De Laet , Seraina Lutz , Terttu Suormala , Brian Fowler , Nicolas Pietrancosta , Bruno Gasnier , Beat Bornhauser , D Sean Froese , Matthias R Baumgartner	2017-07-14	-
28514442	Architecture of the human interactome defines protein communities and disease networks. Nature Edward L Huttlin , Raphael J Bruckner , Joao A Paulo , Joe R Cannon , Lily Ting , Kurt Baltier , Greg Colby , Fana Gebreab , Melanie P Gygi , Hannah Parzen , John Szpyt , Stanley Tam , Gabriela Zarraga , Laura Pontano-Vaites , Sharan Swarup , Anne E White , Devin K Schweppe , Ramin Rad , Brian K Erickson , Robert A Obar , K G Guruharsha , Kejie Li , Spyros Artavanis-Tsakonas , Steven P Gygi , J Wade Harper	2017-05-25	-
27456980	Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1. Sci Rep Kosuke Kawaguchi , Takumi Okamoto , Masashi Morita , Tsuneo Imanaka	2016-07-26	-
27766264	ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease. Biomed Res Int Kosuke Kawaguchi , Masashi Morita	2016-01-01	-
26465331	Characterization of the Cardiac Overexpression of HSPB2 Reveals Mitochondrial and Myogenic Roles Supported by a Cardiac HspB2 Interactome. PLoS One Julianne H Grose , Kelsey Langston , Xiaohui Wang , Shayne Squires , Soumyajit Banerjee Mustafi , Whitney Hayes , Jonathan Neubert , Susan K Fischer , Matthew Fasano , Gina Moore Saunders , Qiang Dai , Elisabeth Christians , E Douglas Lewandowski , Peipei Ping , Ivor J Benjamin	2015-01-01	-
22922874	Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat. Genet. David Coelho , Jaeseung C Kim , Isabelle R Miousse , Stephen Fung , Marcel du Moulin , Insa Buers , Terttu Suormala , Patricie Burda , Michele Frapolli , Martin Stucki , Peter NÃ¼rnberg , Holger Thiele , Horst Robenek , Wolfgang HÃ¶hne , Nicola Longo , Marzia Pasquali , Eugen Mengel , David Watkins , Eric A Shoubridge , Jacek Majewski , David S Rosenblatt , Brian Fowler , Frank Rutsch , Matthias R Baumgartner	2012-10-01	-
21873635	Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics Pascale Gaudet , Michael S Livstone , Suzanna E Lewis , Paul D Thomas	2011-09-01	-

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