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

Gene name
ABCA4, ABC10, ABCR, ARMD2, CORD3, FFM, RMP, RP19, STGD, STGD1
Definition
(RefSeq) ATP binding cassette subfamily A member 4
  KO
K05644  ATP-binding cassette, subfamily A (ABC1), member 4
Organism
hsa  Homo sapiens (human)
Pathway
hsa02010  ABC transporters
Disease
H00481  Cone-rod dystrophy and cone dystrophy
H00527  Retinitis pigmentosa
H00819  Stargardt disease
H00821  Age-related macular degeneration
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)
SSDB
Motif
Pfam: ABC2_membrane_3 ABC_tran AAA_21 AAA_23 AAA_15 SRP54 AAA_29 DUF4162
Other DBs
NCBI-GeneID: 24
NCBI-ProteinID: NP_000341
OMIM: 601691
HGNC: 34
Ensembl: ENSG00000198691
Vega: OTTHUMG00000010622
Pharos: P78363(Tbio)
UniProt: P78363 Q6AI28
Position
1p22.1
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

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (9)   
   KEGG DISEASE (4)   
   OMIM (5)   
Genome (1)   
   KEGG GENOME (1)   
Gene (34)   
   KEGG ORTHOLOGY (1)   
   RefGene (26)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (4)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (29)   
   RefSeq(nuc) (1)   
   GenBank (14)   
   EMBL (14)   
Protein domain (8)   
   Pfam (8)   
All databases (88)   

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