KEGG   Homo sapiens (human): 7439
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  Autosomal dominant 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)
SSDB
Motif
Pfam: Bestrophin
Other DBs
NCBI-GeneID: 7439
NCBI-ProteinID: NP_004174
OMIM: 607854
HGNC: 12703
Ensembl: ENSG00000167995
UniProt: O76090
Structure
Position
11:61949821..61965515
AA seq 585 aa
MTITYTSQVANARLGSFSRLLLCWRGSIYKLLYGEFLIFLLCYYIIRFIYRLALTEEQQL
MFEKLTLYCDSYIQLIPISFVLGFYVTLVVTRWWNQYENLPWPDRLMSLVSGFVEGKDEQ
GRLLRRTLIRYANLGNVLILRSVSTAVYKRFPSAQHLVQAGFMTPAEHKQLEKLSLPHNM
FWVPWVWFANLSMKAWLGGRIRDPILLQSLLNEMNTLRTQCGHLYAYDWISIPLVYTQVV
TVAVYSFFLTCLVGRQFLNPAKAYPGHELDLVVPVFTFLQFFFYVGWLKVAEQLINPFGE
DDDDFETNWIVDRNLQVSLLAVDEMHQDLPRMEPDMYWNKPEPQPPYTAASAQFRRASFM
GSTFNISLNKEEMEFQPNQEDEEDAHAGIIGRFLGLQSHDHHPPRANSRTKLLWPKRESL
LHEGLPKNHKAAKQNVRGQEDNKAWKLKAVDAFKSAPLYQRPGYYSAPQTPLSPTPMFFP
LEPSAPSKLHSVTGIDTKDKSLKTVSSGAKKSFELLSESDGALMEHPEVSQVRRKTVEFN
LTDMPEIPENHLKEPLEQSPTNIHTTLKDHMDPYWALENRDEAHS
NT seq 1758 nt   +upstreamnt  +downstreamnt
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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Ontology (2)   
   KEGG BRITE (2)   
Disease (9)   
   KEGG DISEASE (4)   
   OMIM (5)   
Genome (1)   
   KEGG GENOME (1)   
Gene (22)   
   KEGG ORTHOLOGY (1)   
   RefGene (12)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (15)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (13)   
DNA sequence (62)   
   RefSeq(nuc) (14)   
   GenBank (24)   
   EMBL (24)   
3D Structure (6)   
   PDB (6)   
Protein domain (1)   
   Pfam (1)   
All databases (118)   

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