KEGG T01001: 24

Homo sapiens (human): 24

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

hsa02010

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]

SSDB

Motif

Pfam:

ABC2_membrane_3 ABC_tran AAA_21 AAA_15 AAA_23 AAA_29 SRP54

Other DBs

NCBI-GI:

105990541

NCBI-GeneID:

OMIM:

601691

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Position

1p22

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
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

All links

Ontology (1)   
   KEGG BRITE (1)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (9)   
   KEGG DISEASE (4)   
   OMIM (5)   
Genome (1)   
   KEGG GENOME (1)   
Gene (21)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (13)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (3)   
   UniProt (2)   
   RefSeq(pep) (1)   
DNA sequence (33)   
   RefSeq(nuc) (1)   
   GenBank (16)   
   EMBL (16)   
Protein domain (7)   
   Pfam (7)   
All databases (76)   

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