KEGG   Homo sapiens (human): 24Help
Entry
24                CDS       T01001                                 

Gene name
ABCA4, ABC10, ABCR, ARMD2, CORD3, FFM, RMP, RP19, STGD, STGD1
Definition
ATP-binding cassette, sub-family A (ABC1), member 4
Orthology
K05644  
ATP-binding cassette, subfamily A (ABC1), member 4
Organism
hsa  Homo sapiens (human)
Pathway
ABC transporters
Disease
H00481  
Cone-rod dystrophy and cone dystrophy
H00527  
Retinitis pigmentosa (RP)
H00819  
Stargardt disease (STGD)
H00821  
Macular degeneration
Class
Environmental Information Processing; Membrane transport; ABC transporters [PATH:hsa02010]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
1p22
AA seq 2273 aa AA seqDB search
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 NT seq  +upstreamnt  +downstreamnt
atgggcttcgtgagacagatacagcttttgctctggaagaactggaccctgcggaaaagg
caaaagattcgctttgtggtggaactcgtgtggcctttatctttatttctggtcttgatc
tggttaaggaatgccaacccgctctacagccatcatgaatgccatttccccaacaaggcg
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

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