Entry |
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Symbol |
ABCA4, ABC10, ABCR, ARMD2, CORD3, FFM, RMP, RP19, STGD, STGD1
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Name |
(RefSeq) ATP binding cassette subfamily A member 4
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KO |
K05644 | ATP-binding cassette, subfamily A (ABC1), member 4 |
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Organism |
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Pathway |
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Disease |
H00481 | Cone-rod dystrophy and cone dystrophy |
H00821 | Age-related macular degeneration |
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Brite |
KEGG Orthology (KO) [BR:hsa00001]
09130 Environmental Information Processing
09131 Membrane transport
02010 ABC transporters
24 (ABCA4)
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
02000 Transporters [BR:hsa02000]
24 (ABCA4)
Transporters [BR:hsa02000]
ABC transporters, eukaryotic type
ABCA (ABC1) subfamily
ABCA1, 2, 3, 4, 7, 12, 13 subgroups
24 (ABCA4)
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SSDB |
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Motif |
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Other DBs |
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Structure |
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Position |
1:complement(93992834..94121148)
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AA seq |
2273 aa
MGFVRQIQLLLWKNWTLRKRQKIRFVVELVWPLSLFLVLIWLRNANPLYSHHECHFPNKA
MPSAGMLPWLQGIFCNVNNPCFQSPTPGESPGIVSNYNNSILARVYRDFQELLMNAPESQ
HLGRIWTELHILSQFMDTLRTHPERIAGRGIRIRDILKDEETLTLFLIKNIGLSDSVVYL
LINSQVRPEQFAHGVPDLALKDIACSEALLERFIIFSQRRGAKTVRYALCSLSQGTLQWI
EDTLYANVDFFKLFRVLPTLLDSRSQGINLRSWGGILSDMSPRIQEFIHRPSMQDLLWVT
RPLMQNGGPETFTKLMGILSDLLCGYPEGGGSRVLSFNWYEDNNYKAFLGIDSTRKDPIY
SYDRRTTSFCNALIQSLESNPLTKIAWRAAKPLLMGKILYTPDSPAARRILKNANSTFEE
LEHVRKLVKAWEEVGPQIWYFFDNSTQMNMIRDTLGNPTVKDFLNRQLGEEGITAEAILN
FLYKGPRESQADDMANFDWRDIFNITDRTLRLVNQYLECLVLDKFESYNDETQLTQRALS
LLEENMFWAGVVFPDMYPWTSSLPPHVKYKIRMDIDVVEKTNKIKDRYWDSGPRADPVED
FRYIWGGFAYLQDMVEQGITRSQVQAEAPVGIYLQQMPYPCFVDDSFMIILNRCFPIFMV
LAWIYSVSMTVKSIVLEKELRLKETLKNQGVSNAVIWCTWFLDSFSIMSMSIFLLTIFIM
HGRILHYSDPFILFLFLLAFSTATIMLCFLLSTFFSKASLAAACSGVIYFTLYLPHILCF
AWQDRMTAELKKAVSLLSPVAFGFGTEYLVRFEEQGLGLQWSNIGNSPTEGDEFSFLLSM
QMMLLDAAVYGLLAWYLDQVFPGDYGTPLPWYFLLQESYWLGGEGCSTREERALEKTEPL
TEETEDPEHPEGIHDSFFEREHPGWVPGVCVKNLVKIFEPCGRPAVDRLNITFYENQITA
FLGHNGAGKTTTLSILTGLLPPTSGTVLVGGRDIETSLDAVRQSLGMCPQHNILFHHLTV
AEHMLFYAQLKGKSQEEAQLEMEAMLEDTGLHHKRNEEAQDLSGGMQRKLSVAIAFVGDA
KVVILDEPTSGVDPYSRRSIWDLLLKYRSGRTIIMSTHHMDEADLLGDRIAIIAQGRLYC
SGTPLFLKNCFGTGLYLTLVRKMKNIQSQRKGSEGTCSCSSKGFSTTCPAHVDDLTPEQV
LDGDVNELMDVVLHHVPEAKLVECIGQELIFLLPNKNFKHRAYASLFRELEETLADLGLS
SFGISDTPLEEIFLKVTEDSDSGPLFAGGAQQKRENVNPRHPCLGPREKAGQTPQDSNVC
SPGAPAAHPEGQPPPEPECPGPQLNTGTQLVLQHVQALLVKRFQHTIRSHKDFLAQIVLP
ATFVFLALMLSIVIPPFGEYPALTLHPWIYGQQYTFFSMDEPGSEQFTVLADVLLNKPGF
GNRCLKEGWLPEYPCGNSTPWKTPSVSPNITQLFQKQKWTQVNPSPSCRCSTREKLTMLP
ECPEGAGGLPPPQRTQRSTEILQDLTDRNISDFLVKTYPALIRSSLKSKFWVNEQRYGGI
SIGGKLPVVPITGEALVGFLSDLGRIMNVSGGPITREASKEIPDFLKHLETEDNIKVWFN
NKGWHALVSFLNVAHNAILRASLPKDRSPEEYGITVISQPLNLTKEQLSEITVLTTSVDA
VVAICVIFSMSFVPASFVLYLIQERVNKSKHLQFISGVSPTTYWVTNFLWDIMNYSVSAG
LVVGIFIGFQKKAYTSPENLPALVALLLLYGWAVIPMMYPASFLFDVPSTAYVALSCANL
FIGINSSAITFILELFENNRTLLRFNAVLRKLLIVFPHFCLGRGLIDLALSQAVTDVYAR
FGEEHSANPFHWDLIGKNLFAMVVEGVVYFLLTLLVQRHFFLSQWIAEPTKEPIVDEDDD
VAEERQRIITGGNKTDILRLHELTKIYPGTSSPAVDRLCVGVRPGECFGLLGVNGAGKTT
TFKMLTGDTTVTSGDATVAGKSILTNISEVHQNMGYCPQFDAIDELLTGREHLYLYARLR
GVPAEEIEKVANWSIKSLGLTVYADCLAGTYSGGNKRKLSTAIALIGCPPLVLLDEPTTG
MDPQARRMLWNVIVSIIREGRAVVLTSHSMEECEALCTRLAIMVKGAFRCMGTIQHLKSK
FGDGYIVTMKIKSPKDDLLPDLNPVEQFFQGNFPGSVQRERHYNMLQFQVSSSSLARIFQ
LLLSHKDSLLIEEYSVTQTTLDQVFVNFAKQQTESHDLPLHPRAAGASRQAQD |
NT seq |
6822 nt +upstreamnt +downstreamnt
atgggcttcgtgagacagatacagcttttgctctggaagaactggaccctgcggaaaagg
caaaagattcgctttgtggtggaactcgtgtggcctttatctttatttctggtcttgatc
tggttaaggaatgccaacccactctacagccatcatgaatgccatttccccaacaaggcg
atgccctcagcaggaatgctgccgtggctccaggggatcttctgcaatgtgaacaatccc
tgttttcaaagccccaccccaggagaatctcctggaattgtgtcaaactataacaactcc
atcttggcaagggtatatcgagattttcaagaactcctcatgaatgcaccagagagccag
caccttggccgtatttggacagagctacacatcttgtcccaattcatggacaccctccgg
actcacccggagagaattgcaggaagaggaatacgaataagggatatcttgaaagatgaa
gaaacactgacactatttctcattaaaaacatcggcctgtctgactcagtggtctacctt
ctgatcaactctcaagtccgtccagagcagttcgctcatggagtcccggacctggcgctg
aaggacatcgcctgcagcgaggccctcctggagcgcttcatcatcttcagccagagacgc
ggggcaaagacggtgcgctatgccctgtgctccctctcccagggcaccctacagtggata
gaagacactctgtatgccaacgtggacttcttcaagctcttccgtgtgcttcccacactc
ctagacagccgttctcaaggtatcaatctgagatcttggggaggaatattatctgatatg
tcaccaagaattcaagagtttatccatcggccgagtatgcaggacttgctgtgggtgacc
aggcccctcatgcagaatggtggtccagagacctttacaaagctgatgggcatcctgtct
gacctcctgtgtggctaccccgagggaggtggctctcgggtgctctccttcaactggtat
gaagacaataactataaggcctttctggggattgactccacaaggaaggatcctatctat
tcttatgacagaagaacaacatccttttgtaatgcattgatccagagcctggagtcaaat
cctttaaccaaaatcgcttggagggcggcaaagcctttgctgatgggaaaaatcctgtac
actcctgattcacctgcagcacgaaggatactgaagaatgccaactcaacttttgaagaa
ctggaacacgttaggaagttggtcaaagcctgggaagaagtagggccccagatctggtac
ttctttgacaacagcacacagatgaacatgatcagagataccctggggaacccaacagta
aaagactttttgaataggcagcttggtgaagaaggtattactgctgaagccatcctaaac
ttcctctacaagggccctcgggaaagccaggctgacgacatggccaacttcgactggagg
gacatatttaacatcactgatcgcaccctccgcctggtcaatcaatacctggagtgcttg
gtcctggataagtttgaaagctacaatgatgaaactcagctcacccaacgtgccctctct
ctactggaggaaaacatgttctgggccggagtggtattccctgacatgtatccctggacc
agctctctaccaccccacgtgaagtataagatccgaatggacatagacgtggtggagaaa
accaataagattaaagacaggtattgggattctggtcccagagctgatcccgtggaagat
ttccggtacatctggggcgggtttgcctatctgcaggacatggttgaacaggggatcaca
aggagccaggtgcaggcggaggctccagttggaatctacctccagcagatgccctacccc
tgcttcgtggacgattctttcatgatcatcctgaaccgctgtttccctatcttcatggtg
ctggcatggatctactctgtctccatgactgtgaagagcatcgtcttggagaaggagttg
cgactgaaggagaccttgaaaaatcagggtgtctccaatgcagtgatttggtgtacctgg
ttcctggacagcttctccatcatgtcgatgagcatcttcctcctgacgatattcatcatg
catggaagaatcctacattacagcgacccattcatcctcttcctgttcttgttggctttc
tccactgccaccatcatgctgtgctttctgctcagcaccttcttctccaaggccagtctg
gcagcagcctgtagtggtgtcatctatttcaccctctacctgccacacatcctgtgcttc
gcctggcaggaccgcatgaccgctgagctgaagaaggctgtgagcttactgtctccggtg
gcatttggatttggcactgagtacctggttcgctttgaagagcaaggcctggggctgcag
tggagcaacatcgggaacagtcccacggaaggggacgaattcagcttcctgctgtccatg
cagatgatgctccttgatgctgctgtctatggcttactcgcttggtaccttgatcaggtg
tttccaggagactatggaaccccacttccttggtactttcttctacaagagtcgtattgg
cttggcggtgaagggtgttcaaccagagaagaaagagccctggaaaagaccgagccccta
acagaggaaacggaggatccagagcacccagaaggaatacacgactccttctttgaacgt
gagcatccagggtgggttcctggggtatgcgtgaagaatctggtaaagatttttgagccc
tgtggccggccagctgtggaccgtctgaacatcaccttctacgagaaccagatcaccgca
ttcctgggccacaatggagctgggaaaaccaccaccttgtccatcctgacgggtctgttg
ccaccaacctctgggactgtgctcgttgggggaagggacattgaaaccagcctggatgca
gtccggcagagccttggcatgtgtccacagcacaacatcctgttccaccacctcacggtg
gctgagcacatgctgttctatgcccagctgaaaggaaagtcccaggaggaggcccagctg
gagatggaagccatgttggaggacacaggcctccaccacaagcggaatgaagaggctcag
gacctatcaggtggcatgcagagaaagctgtcggttgccattgcctttgtgggagatgcc
aaggtggtgattctggacgaacccacctctggggtggacccttactcgagacgctcaatc
tgggatctgctcctgaagtatcgctcaggcagaaccatcatcatgtccactcaccacatg
gacgaggccgacctccttggggaccgcattgccatcattgcccagggaaggctctactgc
tcaggcaccccactcttcctgaagaactgctttggcacaggcttgtacttaaccttggtg
cgcaagatgaaaaacatccagagccaaaggaaaggcagtgaggggacctgcagctgctcg
tctaagggtttctccaccacgtgtccagcccacgtcgatgacctaactccagaacaagtc
ctggatggggatgtaaatgagctgatggatgtagttctccaccatgttccagaggcaaag
ctggtggagtgcattggtcaagaacttatcttccttcttccaaataagaacttcaagcac
agagcatatgccagccttttcagagagctggaggagacgctggctgaccttggtctcagc
agttttggaatttctgacactcccctggaagagatttttctgaaggtcacggaggattct
gattcaggacctctgtttgcgggtggcgctcagcagaaaagagaaaacgtcaacccccga
cacccctgcttgggtcccagagagaaggctggacagacaccccaggactccaatgtctgc
tccccaggggcgccggctgctcacccagagggccagcctcccccagagccagagtgccca
ggcccgcagctcaacacggggacacagctggtcctccagcatgtgcaggcgctgctggtc
aagagattccaacacaccatccgcagccacaaggacttcctggcgcagatcgtgctcccg
gctacctttgtgtttttggctctgatgctttctattgttatccctccttttggcgaatac
cccgctttgacccttcacccctggatatatgggcagcagtacaccttcttcagcatggat
gaaccaggcagtgagcagttcacggtacttgcagacgtcctcctgaataagccaggcttt
ggcaaccgctgcctgaaggaagggtggcttccggagtacccctgtggcaactcaacaccc
tggaagactccttctgtgtccccaaacatcacccagctgttccagaagcagaaatggaca
caggtcaacccttcaccatcctgcaggtgcagcaccagggagaagctcaccatgctgcca
gagtgccccgagggtgccgggggcctcccgcccccccagagaacacagcgcagcacggaa
attctacaagacctgacggacaggaacatctccgacttcttggtaaaaacgtatcctgct
cttataagaagcagcttaaagagcaaattctgggtcaatgaacagaggtatggaggaatt
tccattggaggaaagctcccagtcgtccccatcacgggggaagcacttgttgggttttta
agcgaccttggccggatcatgaatgtgagcgggggccctatcactagagaggcctctaaa
gaaatacctgatttccttaaacatctagaaactgaagacaacattaaggtgtggtttaat
aacaaaggctggcatgccctggtcagctttctcaatgtggcccacaacgccatcttacgg
gccagcctgcctaaggacaggagccccgaggagtatggaatcaccgtcattagccaaccc
ctgaacctgaccaaggagcagctctcagagattacagtgctgaccacttcagtggatgct
gtggttgccatctgcgtgattttctccatgtccttcgtcccagccagctttgtcctttat
ttgatccaggagcgggtgaacaaatccaagcacctccagtttatcagtggagtgagcccc
accacctactgggtgaccaacttcctctgggacatcatgaattattccgtgagtgctggg
ctggtggtgggcatcttcatcgggtttcagaagaaagcctacacttctccagaaaacctt
cctgcccttgtggcactgctcctgctgtatggatgggcggtcattcccatgatgtaccca
gcatccttcctgtttgatgtccccagcacagcctatgtggctttatcttgtgctaatctg
ttcatcggcatcaacagcagtgctattaccttcatcttggaattatttgagaataaccgg
acgctgctcaggttcaacgccgtgctgaggaagctgctcattgtcttcccccacttctgc
ctgggccggggcctcattgaccttgcactgagccaggctgtgacagatgtctatgcccgg
tttggtgaggagcactctgcaaatccgttccactgggacctgattgggaagaacctgttt
gccatggtggtggaaggggtggtgtacttcctcctgaccctgctggtccagcgccacttc
ttcctctcccaatggattgccgagcccactaaggagcccattgttgatgaagatgatgat
gtggctgaagaaagacaaagaattattactggtggaaataaaactgacatcttaaggcta
catgaactaaccaagatttatccaggcacctccagcccagcagtggacaggctgtgtgtc
ggagttcgccctggagagtgctttggcctcctgggagtgaatggtgccggcaaaacaacc
acattcaagatgctcactggggacaccacagtgacctcaggggatgccaccgtagcaggc
aagagtattttaaccaatatttctgaagtccatcaaaatatgggctactgtcctcagttt
gatgcaattgatgagctgctcacaggacgagaacatctttacctttatgcccggcttcga
ggtgtaccagcagaagaaatcgaaaaggttgcaaactggagtattaagagcctgggcctg
actgtctacgccgactgcctggctggcacgtacagtgggggcaacaagcggaaactctcc
acagccatcgcactcattggctgcccaccgctggtgctgctggatgagcccaccacaggg
atggacccccaggcacgccgcatgctgtggaacgtcatcgtgagcatcatcagagaaggg
agggctgtggtcctcacatcccacagcatggaagaatgtgaggcactgtgtacccggctg
gccatcatggtaaagggcgcctttcgatgtatgggcaccattcagcatctcaagtccaaa
tttggagatggctatatcgtcacaatgaagatcaaatccccgaaggacgacctgcttcct
gacctgaaccctgtggagcagttcttccaggggaacttcccaggcagtgtgcagagggag
aggcactacaacatgctccagttccaggtctcctcctcctccctggcgaggatcttccag
ctcctcctctcccacaaggacagcctgctcatcgaggagtactcagtcacacagaccaca
ctggaccaggtgtttgtaaattttgctaaacagcagactgaaagtcatgacctccctctg
caccctcgagctgctggagccagtcgacaagcccaggactga |