| Type | Description |
|---|---|
| Definition | SET binding factor 1 |
| Date | Results | Publications |
|---|---|---|
| 2019-11-16 10:36:00 | The novel SBF1 null mutation highlights distinct severe phenotypic manifestations, broadening the clinical spectrum of SBF1-related neuropathies: cerebellar and pyramidal signs evident in the first months of life with peripheral polyneuropathy emerging only toward the end of the first decade, together with unique MRI findings. | 30039846 |
| 2018-02-24 10:12:00 | Novel sequence variants in SBF1 (c.1168C>G and c.2209_2210del) as the potential causative mutations in two siblings with severe axonal neuropathy, hearing loss, facial weakness and bulbar features. | 28005197 |
| 2015-02-28 11:33:00 | ZNF195 and SBF1 are potential biomarkers for gemcitabine sensitivity in head and neck squamous cell carcinoma cell lines. | 24817947 |
| 2013-09-21 12:37:00 | Compound heterozygous mutations in SBF1 appear to be the underlying causes of a novel Charcot-Marie-Tooth disease type 4B subtype (designated as CMT4B3) in a Korean family. | 23749797 |
| 2010-07-28 08:22:00 | SBF1 (MTMR5) belongs to the myotubularin family of phosphoinositides phosphatases-like | 9736772 |
| Type | IDs |
|---|---|
| Synonymous | CMT4B3, DENND7A, MTMR5 |
| Gene |
UniProtKB-ID:
MTMR5_HUMAN
UniprotKB:
O95248
UniParc:
UPI0000EE72AC,
UPI000387D40E,
UPI00001D69ED
EMBL:
U93181,
BC009268,
AL096767,
AF072929,
BC087612,
CH471138
Ensembl:
ENSG00000100241
KO:
hsa:6305
|
| Nucleutide sequences |
EMBL-CDS:
AAH09268.2,
EAW73539.1,
AAH87612.1,
EAW73538.1,
AAC39675.1,
AAC78842.1,
EAW73536.1
Ensembl_TRS:
ENST00000380817,
ENST00000348911
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000370196,
ENSP00000252027
RefSeq:
XP_005261992.1,
XP_016884394.1,
NP_001352748.1,
XP_011529011.1,
XP_011529012.1,
NP_002963.2
|
| Others |
UniRef100:
UniRef100_O95248
UniRef90:
UniRef90_O95248
UniRef50:
UniRef50_O95248
UniGene:
Hs.589924
CCDS:
CCDS14091.2
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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