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23499 MACF1

23499

MACF1

microtubule actin crosslinking factor 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition microtubule actin crosslinking factor 1

研究结论

Date Results Publications
2021-03-06 13:25:00 Mesenchymal MACF1 Facilitates SMAD7 Nuclear Translocation to Drive Bone Formation. 32143362
2020-11-28 13:16:00 New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing. 33036707
2020-04-11 10:24:00 Missense mutation in the MACF1 gene is associated with congenital myasthenia. 30842214
2020-02-22 12:25:00 MACF1 might lose the control of the whole cytoskeleton system, synapse might change and Alzheimer's disease might develop 31383338
2019-05-18 10:21:00 Three de novo variants in MACF1 have been observed in large schizophrenia cohorts. 30471716

名称对应

Type IDs
Synonymous ABP620, ACF7, LIS9, MACF, OFC4
Gene
UniProtKB-ID: MACF1_HUMAN, Q6ZSD7_HUMAN
UniprotKB: Q9UPN3, Q6ZSD7
UniParc: UPI00001B3DC6, UPI0000498129, UPI0000470EF4, UPI00001B3DC5, UPI00001C0E50, UPI0001F78894
EMBL: AB029290, AF325331, AF325336, AF325335, AL365277, AF325340, AF317696, AL355477, AB033077, AB007934, AF325330, AL356055, AL442071, AF325333, AF141968, AF325334, AK127519, AF325339, AF325332, AL137853, AF325341
Ensembl: ENSG00000127603
KO: hsa:23499
Nucleutide sequences
EMBL-CDS: AAL09459.1, AAF06360.1, BAA86565.1, BAA83821.1, BAA32310.3, AAL39000.1, AAL38997.1, BAC87016.1
Ensembl_TRS: ENST00000361689, ENST00000372915
Protein sequencees
Ensembl_PRO: ENSP00000354573, ENSP00000362006
RefSeq: NP_036222.3
Others
UniRef100: UniRef100_Q9UPN3, UniRef100_Q6ZSD7
UniRef90: UniRef90_A0A2I3H5X9, UniRef90_Q9UPN3
UniRef50: UniRef50_A0A2I3H5X9, UniRef50_Q9UPN3
UniGene: Hs.472475, Hs.692278
CCDS: CCDS435.1

全选

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