SMART: Pfam domain Bestrophin

The domain within your query sequence starts at position 8 and ends at position 316; the E-value for the Bestrophin domain shown below is 5.8e-118.

RVANARFGGFSQLLLLWRGSIYKLLWRELLCFLGLYMALSAAYRFLLAEEQKRYFEKLVI
YCDQYASLIPVSFVLGFYVTLVVHRWWNQYLCMPLPDALMCIVAGTVHGRDDRGRLYRRT
LMRYAGLSAVLILRSVSTAVFKRFPTIDHVVEAGFMTREERKKFENLNSSYNKYWVPCVW
FSSLAAQARREGRIRDNSALKLLLEELNVFRSKCGMLFHYDWISIPLVYTQVVTIAVYSY
FLACLIGRQFLDPAQGYKDHTLDLCVPIFTLLQFFFYAGWLKVAEQLINPFGEDDDDFET
NFLIDRNFQ

Bestrophin

PFAM accession number:	PF01062
Interpro abstract (IPR021134):	Bestrophin is a 68kDa basolateral plasma membrane protein expressed in retinal pigment epithelial cells (RPE). It is encoded by the VMD2 gene, which is mutated in Best macular dystrophy, a disease characterised by a depressed light peak in the electrooculogram [ (PUBMED:12032738) ]. VMD2 encodes a 585-amino acid protein with an approximate mass of 68kDa which has been designated bestrophin. Bestrophin shares homology with the Caenorhabditis elegans RFP gene family, named for the presence of a conserved arginine (R), phenylalanine (F), proline (P), amino acid sequence motif. Bestrophin is a plasma membrane protein, localised to the basolateral surface of RPE cells consistent with a role for bestrophin in the generation or regulation of the EOG light peak. Bestrophin and other RFP family members represent a new class of chloride channels, indicating a direct role for bestrophin in generating the light peak [ (PUBMED:12032738) ]. The VMD2 gene underlying Best disease was shown to represent the first human member of the RFP-TM protein family. More than 97% of the disease-causing mutations are located in the N-terminal RFP-TM domain implying important functional properties [ (PUBMED:12058047) ]. This entry also includes a number of hypothetical proteins belonging to protein family UPF0187.

PFAM accession number:

PF01062

Interpro abstract (IPR021134):

Bestrophin is a 68kDa basolateral plasma membrane protein expressed in retinal pigment epithelial cells (RPE). It is encoded by the VMD2 gene, which is mutated in Best macular dystrophy, a disease characterised by a depressed light peak in the electrooculogram [ (PUBMED:12032738) ]. VMD2 encodes a 585-amino acid protein with an approximate mass of 68kDa which has been designated bestrophin. Bestrophin shares homology with the Caenorhabditis elegans RFP gene family, named for the presence of a conserved arginine (R), phenylalanine (F), proline (P), amino acid sequence motif. Bestrophin is a plasma membrane protein, localised to the basolateral surface of RPE cells consistent with a role for bestrophin in the generation or regulation of the EOG light peak. Bestrophin and other RFP family members represent a new class of chloride channels, indicating a direct role for bestrophin in generating the light peak [ (PUBMED:12032738) ]. The VMD2 gene underlying Best disease was shown to represent the first human member of the RFP-TM protein family. More than 97% of the disease-causing mutations are located in the N-terminal RFP-TM domain implying important functional properties [ (PUBMED:12058047) ].

This entry also includes a number of hypothetical proteins belonging to protein family UPF0187.

This is a PFAM domain. For full annotation and more information, please see the PFAM entry Bestrophin