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55788 LMBRD1

55788

LMBRD1

LMBR1 domain containing 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition LMBR1 domain containing 1

研究结论

Date Results Publications
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
2015-08-29 11:18:00 Results propose a model whereby membrane-bound LMBD1 and ABCD4 facilitate the vectorial delivery of lysosomal vitamin B12 to cytoplasmic MMACHC. 25535791
2014-01-25 10:47:00 LMBD1 plays an imperative role in mediating and regulating the endocytosis of the IR. 24078630
2013-03-09 10:24:00 These data indicate that by forming complexes with lamin A/C and nucleoporins, NESI facilitates the CRM1-independent nuclear export of large hepatitis delta antigen. 23175358

名称对应

Type IDs
Synonymous C6orf209, LMBD1, MAHCF, NESI
Gene
UniProtKB-ID: LMBD1_HUMAN
UniprotKB: Q9NUN5
UniParc: UPI0000070A30, UPI0000458A4E, UPI0000073F2D, UPI000003ED25
EMBL: AF211480, AK290069, AF208863, AK002102, AL590702, AL358133, AY136817, AL583831, CH471051, BC010360, BC047073, AF113224
Ensembl: ENSG00000168216
KO: hsa:55788
Nucleutide sequences
EMBL-CDS: BAF82758.1, AAG39295.1, AAK26247.1, BAA92087.1, EAW48832.1, EAW48835.1, AAH10360.1, AAH47073.1, AAN11301.1, AAF64277.1, EAW48833.1
Gene_ORFName: CD001, MSTP044, BM-021
Ensembl_TRS: ENST00000649918, ENST00000647964, ENST00000650107, ENST00000649934, ENST00000648168, ENST00000649028, ENST00000650035, ENST00000648394, ENST00000649679, ENST00000648743, ENST00000370570
Protein sequencees
Ensembl_PRO: ENSP00000497703, ENSP00000497135, ENSP00000497387, ENSP00000497124, ENSP00000497302, ENSP00000498178, ENSP00000359602, ENSP00000497487, ENSP00000496784, ENSP00000498034, ENSP00000497690
RefSeq: NP_001354201.1, NP_001350651.1, NP_060838.3, NP_001354200.1
Others
UniRef100: UniRef100_Q9NUN5
UniRef90: UniRef90_Q9NUN5
UniRef50: UniRef50_Q9NUN5
UniGene: Hs.271643, Hs.736005
CCDS: CCDS87415.1, CCDS4969.1

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