KEGG   Homo sapiens (human): 24Help
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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: ABC2_membrane_3 ABC_tran AAA_21 AAA_23 AAA_15 SRP54 AAA_29 DUF4162
Motif
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 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
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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (9)   
   KEGG DISEASE (4)   
   OMIM (5)   
Genome (1)   
   KEGG GENOME (1)   
Gene (35)   
   KEGG ORTHOLOGY (1)   
   RefGene (26)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   UniGene (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 (89)   

Download RDF
DBGET integrated database retrieval system