Homo sapiens (human): 7439
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Entry
7439 CDS
T01001
Symbol
BEST1, ARB, BEST, BMD, Best1V1Delta2, RP50, TU15B, VMD2
Name
(RefSeq) bestrophin 1
KO
K13878
bestrophin-1
Organism
hsa
Homo sapiens (human)
Disease
H00527
Retinitis pigmentosa
H00805
Vitreoretinal degeneration
H00814
Vitelliform macular dystrophy
H02078
Vitreoretinochoroidopathy
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
02000 Transporters [BR:
hsa02000
]
7439 (BEST1)
Transporters [BR:
hsa02000
]
Other transporters
Pores ion channels [TC:
1
]
7439 (BEST1)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Bestrophin
Motif
Other DBs
NCBI-GeneID:
7439
NCBI-ProteinID:
NP_004174
OMIM:
607854
HGNC:
12703
Ensembl:
ENSG00000167995
UniProt:
O76090
Structure
PDB
PDBj
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All DBs
Position
11:61949821..61965515
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AA seq
585 aa
AA seq
DB search
MTITYTSQVANARLGSFSRLLLCWRGSIYKLLYGEFLIFLLCYYIIRFIYRLALTEEQQL
MFEKLTLYCDSYIQLIPISFVLGFYVTLVVTRWWNQYENLPWPDRLMSLVSGFVEGKDEQ
GRLLRRTLIRYANLGNVLILRSVSTAVYKRFPSAQHLVQAGFMTPAEHKQLEKLSLPHNM
FWVPWVWFANLSMKAWLGGRIRDPILLQSLLNEMNTLRTQCGHLYAYDWISIPLVYTQVV
TVAVYSFFLTCLVGRQFLNPAKAYPGHELDLVVPVFTFLQFFFYVGWLKVAEQLINPFGE
DDDDFETNWIVDRNLQVSLLAVDEMHQDLPRMEPDMYWNKPEPQPPYTAASAQFRRASFM
GSTFNISLNKEEMEFQPNQEDEEDAHAGIIGRFLGLQSHDHHPPRANSRTKLLWPKRESL
LHEGLPKNHKAAKQNVRGQEDNKAWKLKAVDAFKSAPLYQRPGYYSAPQTPLSPTPMFFP
LEPSAPSKLHSVTGIDTKDKSLKTVSSGAKKSFELLSESDGALMEHPEVSQVRRKTVEFN
LTDMPEIPENHLKEPLEQSPTNIHTTLKDHMDPYWALENRDEAHS
NT seq
1758 nt
NT seq
+upstream
nt +downstream
nt
atgaccatcacttacacaagccaagtggctaatgcccgcttaggctccttctcccgcctg
ctgctgtgctggcggggcagcatctacaagctgctatatggcgagttcttaatcttcctg
ctctgctactacatcatccgctttatttataggctggccctcacggaagaacaacagctg
atgtttgagaaactgactctgtattgcgacagctacatccagctcatccccatttccttc
gtgctgggcttctacgtgacgctggtcgtgacccgctggtggaaccagtacgagaacctg
ccgtggcccgaccgcctcatgagcctggtgtcgggcttcgtcgaaggcaaggacgagcaa
ggccggctgctgcggcgcacgctcatccgctacgccaacctgggcaacgtgctcatcctg
cgcagcgtcagcaccgcagtctacaagcgcttccccagcgcccagcacctggtgcaagca
ggctttatgactccggcagaacacaagcagttggagaaactgagcctaccacacaacatg
ttctgggtgccctgggtgtggtttgccaacctgtcaatgaaggcgtggcttggaggtcga
atccgggaccctatcctgctccagagcctgctgaacgagatgaacaccttgcgtactcag
tgtggacacctgtatgcctacgactggattagtatcccactggtgtatacacaggtggtg
actgtggcggtgtacagcttcttcctgacttgtctagttgggcggcagtttctgaaccca
gccaaggcctaccctggccatgagctggacctcgttgtgcccgtcttcacgttcctgcag
ttcttcttctatgttggctggctgaaggtggcagagcagctcatcaacccctttggagag
gatgatgatgattttgagaccaactggattgtcgacaggaatttgcaggtgtccctgttg
gctgtggatgagatgcaccaggacctgcctcggatggagccggacatgtactggaataag
cccgagccacagcccccctacacagctgcttccgcccagttccgtcgagcctcctttatg
ggctccaccttcaacatcagcctgaacaaagaggagatggagttccagcccaatcaggag
gacgaggaggatgctcacgctggcatcattggccgcttcctaggcctgcagtcccatgat
caccatcctcccagggcaaactcaaggaccaaactactgtggcccaagagggaatccctt
ctccacgagggcctgcccaaaaaccacaaggcagccaaacagaacgttaggggccaggaa
gacaacaaggcctggaagcttaaggctgtggacgccttcaagtctgccccactgtatcag
aggccaggctactacagtgccccacagacgcccctcagccccactcccatgttcttcccc
ctagaaccatcagcgccgtcaaagcttcacagtgtcacaggcatagacaccaaagacaaa
agcttaaagactgtgagttctggggccaagaaaagttttgaattgctctcagagagcgat
ggggccttgatggagcacccagaagtatctcaagtgaggaggaaaactgtggagtttaac
ctgacggatatgccagagatccccgaaaatcacctcaaagaacctttggaacaatcacca
accaacatacacactacactcaaagatcacatggatccttattgggccttggaaaacagg
gatgaagcacattcctaa
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