Results for the protein: O95248

Results for the Protein: O95248

158515405

6305

SBF1

NCBI, UniProt

MTMR5_HUMAN RecName: Full=Myotubularin-related protein 5; AltName: Full=SET-binding factor 1; Short=Sbf1

Known Diseases associated with this Protein:
CHARCOT-MARIE-TOOTH DISEASE 4B3 (CMT4B3)

2

0

0

0

2

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: uDENN - smart00800 uDENN - pfam03456 DENN - pfam02141 DENN - smart00799 dDENN - pfam03455 dDENN - smart00801 SBF2 - pfam12335 GRAM - smart00568 GRAM - pfam02893 Myotub-related - pfam06602 PH - smart00233 PH - pfam00169 PH_GRP1-like - cd01252 - cd01246 PH_AGAP - cd01250 PH - cd00821 PH-like - cd00900 PH_Sbf1_hMTMR5 - cd01235 PH_Btk - cd01238 PH_TBC1D2A - cd01265	Swiss-Prot Protein: O95248 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PH	cd00821	1.3e-14	1764	1863
PH-like	cd00900	5.4e-12	1764	1863
PH_Sbf1_hMTMR5	cd01235	3.9e-55	1764	1864
	cd01246	5.3e-07	1764	1863
PH_AGAP	cd01250	0.00017	1764	1863
PH_Btk	cd01238	0.0002	1765	1863
PH_TBC1D2A	cd01265	0.00034	1766	1865
uDENN	pfam03456	1.8e-34	1	86
DENN	pfam02141	3.1e-81	128	310
dDENN	pfam03455	5e-22	363	432
GRAM	pfam02893	3.4e-16	890	968
PH	pfam00169	2.7e-14	1762	1865
uDENN	smart00800	9.4e-31	1	86
DENN	smart00799	1.7e-69	129	310
dDENN	smart00801	1.6e-19	364	432
SBF2	pfam12335	1.7e-165	540	764
GRAM	smart00568	9.6e-16	889	968
Myotub-related	pfam06602	3.2e-31	1159	1252
PH	smart00233	2.1e-20	1762	1865

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_070046	Disease	p.MET417VAL	Charcot-Marie-Tooth disease 4B3 (CMT4B3)
Swiss-Prot	VAR_070047	Disease	p.THR1564ALA	Charcot-Marie-Tooth disease 4B3 (CMT4B3)

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