BEST1_HUMAN - PTM Information in dbPTM

Basic Information of Protein

• UniProt ID: BEST1_HUMAN
• UniProt AC: O76090
• Protein Name: Bestrophin-1
• Gene Name: BEST1
• Organism: Homo sapiens (Human).
• Sequence Length: 585
• Subcellular Localization: Cell membrane ; Multi-pass membrane protein . Basolateral cell membrane .
• Protein Description: Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate..
• Protein Sequence: MTITYTSQVANARLGSFSRLLLCWRGSIYKLLYGEFLIFLLCYYIIRFIYRLALTEEQQLMFEKLTLYCDSYIQLIPISFVLGFYVTLVVTRWWNQYENLPWPDRLMSLVSGFVEGKDEQGRLLRRTLIRYANLGNVLILRSVSTAVYKRFPSAQHLVQAGFMTPAEHKQLEKLSLPHNMFWVPWVWFANLSMKAWLGGRIRDPILLQSLLNEMNTLRTQCGHLYAYDWISIPLVYTQVVTVAVYSFFLTCLVGRQFLNPAKAYPGHELDLVVPVFTFLQFFFYVGWLKVAEQLINPFGEDDDDFETNWIVDRNLQVSLLAVDEMHQDLPRMEPDMYWNKPEPQPPYTAASAQFRRASFMGSTFNISLNKEEMEFQPNQEDEEDAHAGIIGRFLGLQSHDHHPPRANSRTKLLWPKRESLLHEGLPKNHKAAKQNVRGQEDNKAWKLKAVDAFKSAPLYQRPGYYSAPQTPLSPTPMFFPLEPSAPSKLHSVTGIDTKDKSLKTVSSGAKKSFELLSESDGALMEHPEVSQVRRKTVEFNLTDMPEIPENHLKEPLEQSPTNIHTTLKDHMDPYWALENRDEAHS

Overview of Protein Modification Sites with Functional and Structural Information

Experimental Post-Translational Modification Sites

* ASA = Accessible Surface Area

Locations	Modification	Substrate Peptides & Secondary Structure	ASA (%)	Reference
2	Phosphorylation	------MTITYTSQV ------CCEEEEHHH	23.25	29888752
4	Phosphorylation	----MTITYTSQVAN ----CCEEEEHHHHH	16.16	29888752
5	Phosphorylation	---MTITYTSQVANA ---CCEEEEHHHHHH	10.67	24043423
6	Phosphorylation	--MTITYTSQVANAR --CCEEEEHHHHHHC	12.20	29888752
7	Phosphorylation	-MTITYTSQVANARL -CCEEEEHHHHHHCC	16.55	29888752
16	Phosphorylation	VANARLGSFSRLLLC HHHHCCCHHHHHHHH	25.33	-
55	Phosphorylation	FIYRLALTEEQQLMF HHHHHHCCHHHHHHH	31.69	25690035
111	Phosphorylation	DRLMSLVSGFVEGKD HHHHHHHHHHCCCCC	31.63	27732954
131	Phosphorylation	LRRTLIRYANLGNVL HHHHHHHHHCCCCEE	7.89	18083107
148	Phosphorylation	RSVSTAVYKRFPSAQ EECCHHHHHHCCCHH	8.25	18083107
227	Phosphorylation	QCGHLYAYDWISIPL HCCCCHHCCCCCCCC	9.77	-
358	Phosphorylation	SAQFRRASFMGSTFN HHHHHHHHHCCCEEE	17.60	19635817
504	Phosphorylation	TKDKSLKTVSSGAKK CCCCCCCCCCCCCHH	30.80	-
511	Ubiquitination	TVSSGAKKSFELLSE CCCCCCHHHHHHHHH	60.90	-
536	Phosphorylation	VSQVRRKTVEFNLTD HHHHHHHEEEECCCC	24.37	-

Upstream regulatory proteins (kinases for phosphorylation sites, E3 ubiquitin ligases of ubiquitination sites, ...)

Modified Location	Modified Residue	Modification	Type of Upstream Proteins	Gene Name of Upstream Proteins	UniProt AC of Upstream Proteins	Sources
358	S	Phosphorylation	Kinase	PRKCA	P17252	GPS
358	S	Phosphorylation	Kinase	PRKCD	Q05655	GPS

Functions of PTM Sites

Oops, there are no descriptions of PTM sites of BEST1_HUMAN !!

Disease-associated PTM Sites based on SAP

* Distance = the distance between SAP position and PTM sites.

Oops, there are no SNP-PTM records of BEST1_HUMAN !!

Protein-Protein Interaction

Interacting Protein	Gene Name	Interaction Type	PPI Reference
PP2AA_HUMAN	PPP2CA	physical	12058047

Drug and Disease Associations

• Kegg Disease
• H00527: Retinitis pigmentosa (RP)
• H00805: Vitreoretinal degeneration, including: Stickler syndrome type I (STL1); Stickler syndrome type II (S
• H00814: Vitelliform macular dystrophy, including: Best disease / Juvenile vitelliform macular dystrophy (VMD
• OMIM Disease
• 153700: Macular dystrophy, vitelliform, 2 (VMD2)
• 613194: Retinitis pigmentosa 50 (RP50)
• 611809: Bestrophinopathy, autosomal recessive (ARB)
• 193220: Vitreoretinochoroidopathy, autosomal dominant (ADVIRC)
• Kegg Drug
• There are no disease associations of PTM sites.
• DrugBank
• There are no disease associations of PTM sites.