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23255 MTCL1

23255

MTCL1

microtubule crosslinking factor 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition microtubule crosslinking factor 1

研究结论

Date Results Publications
2020-08-12 14:23:00 We propose MTCL1 as a candidate gene for autosomal recessive cerebellar ataxia in humans. In addition, our study confirms the high diagnostic yield of NGS in early-onset cerebellar ataxias, with at least 50% detection rate in our ataxia cohort. 30548255
2017-09-30 10:43:00 microtubule-regulating activity of microtubule crosslinking factor 1 28787032
2017-07-01 10:55:00 results suggest that the PPP2R5E phosphatase may contribute to microtubule organization by stabilizing MTCL1. 27521566
2016-01-16 10:17:00 MTCL1 cooperates with CLASPs and AKAP450/CG-NAP in the formation of the Golgi-derived microtubules 25366663
2008-09-24 21:30:00 Observational study of gene-disease association. (HuGE Navigator) 18649358

名称对应

Type IDs
Synonymous CCDC165, KIAA0802, SOGA2
Gene
UniProtKB-ID: MTCL1_HUMAN
UniprotKB: Q9Y4B5
UniParc: UPI0000456B5B, UPI0001AE65C5, UPI0001E8EEF1, UPI000056D45F
EMBL: AB018345, AP000864, AP001531, BC040542, AK131528
Ensembl: ENSG00000168502
KO: hsa:23255
Nucleutide sequences
EMBL-CDS: AAH40542.2, BAA34522.2, BAD18666.1
Ensembl_TRS: ENST00000517570, ENST00000400050, ENST00000518815, ENST00000359865, ENST00000306329
Protein sequencees
Ensembl_PRO: ENSP00000463465, ENSP00000352927, ENSP00000305027, ENSP00000429556, ENSP00000382924
RefSeq: XP_016881161.1, XP_024306895.1, NP_001365134.1, XP_024306885.1, XP_024306890.1, XP_024306888.1, XP_016881164.1, NP_001365135.1, XP_024306887.1, XP_024306891.1, XP_024306883.1, XP_024306886.1, XP_024306879.1, XP_024306893.1, XP_016881160.1, XP_024306882.1, XP_016881162.1, XP_024306896.1, XP_024306880.1, XP_024306894.1, XP_024306889.1, XP_024306878.1, XP_011523942.2, XP_024306892.1, XP_024306884.1, XP_024306881.1, NP_001365136.1, XP_016881163.1, NP_056025.2
Others
UniRef100: UniRef100_Q9Y4B5
UniRef90: UniRef90_Q9Y4B5
UniRef50: UniRef50_Q9Y4B5
UniGene: Hs.707920
CCDS: CCDS11841.1

全选

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