• Gene id: 24

Gene Summary

• Gene Symbol: ABCA4   Gene   UCSC   Ensembl
• Aliases: ABC10, ABCR, ARMD2, CORD3, FFM, RMP, RP19, STGD, STGD1
• Gene name: ATP binding cassette subfamily A member 4
• Alternate names: retinal-specific phospholipid-transporting ATPase ABCA4, ATP binding cassette transporter, ATP-binding cassette sub-family A member 4, ATP-binding cassette transporter, retinal-specific, ATP-binding cassette, sub-family A (ABC1), member 4, ATP-binding transpor,
• Gene location: 1p22.1 (94121147: 93992833)     Exons: 50     NC_000001.11
• Gene summary(Entrez): The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct s
• OMIM: 601691

SNPs

rs371195126

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4783690C>G
NC_000016.10   g.4783690C>T
NC_000016.9   g.4833691C>G
NC_000016.9   g.4833691C>T
NG_030315.1   g.9832G>C
NG_030315.1   g.9832G>A
NM_144605.5   c.589G>C
NM_144605.5   c.589G>A
NM_144605.4   c.589G>C
NM_144605.4   c.589G>A
NM_001154458.3   c.451

rs199696526

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4786006G>A
NC_000016.9   g.4836007G>A
NG_030315.1   g.7516C>T
NM_144605.5   c.266C>T
NM_144605.4   c.266C>T
NM_001154458.3   c.266C>T
NM_001154458.2   c.266C>T
XM_011522379.3   c.74C>T
XM_006720846.2   c.266C>T
XM_024450155.1   c.266C>T
XM_017022938.1   c

rs55763075

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.11790377C>T
NC_000001.10   g.11850434C>T
NG_013351.1   g.20727G>A
NM_005957.5   c.*303G>A
NM_005957.4   c.*303G>A
NM_001330358.1   c.*303G>A
XM_005263460.5   c.*303G>A
XM_005263460.1   c.*303G>A
XM_005263463.4   c.*303G>A
XM_005263463.1   c.*303G>A
XM_0  

rs17855750

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.28503907A>C
NC_000016.10   g.28503907A>T
NC_000016.9   g.28515228A>C
NC_000016.9   g.28515228A>T
NM_145659.3   c.175T>G
NM_145659.3   c.175T>A
XM_011545780.2   c.181T>G
XM_011545780.2   c.181T>A
NP_663634.2   p.Ser59Ala
NP_663634.2   p.Ser59Thr
XP_01154  

rs12870438

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.42906069G>A
NC_000013.10   g.43480205G>A
NG_051573.1   g.91244C>T|SEQ=[G/A]|GENE=EPSTI1

rs12323635

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.95159374C>T
NC_000014.8   g.95625711C>T
NG_016311.1   g.3049G>A|SEQ=[C/T]|GENE=DICER1
DICER1-AS1   400242

rs10835638

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.30230805G>A
NC_000011.10   g.30230805G>T
NC_000011.9   g.30252352G>A
NC_000011.9   g.30252352G>T
NG_008144.1   g.4790G>A
NG_008144.1   g.4790G>T|SEQ=[G/A/T]|GENE=FSHB
LOC105376607   105376607

rs4997052

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31356367T>A
NC_000006.12   g.31356367T>G
NC_000006.11   g.31324144T>A
NC_000006.11   g.31324144T>G
NG_023187.1   g.5846A>T
NG_023187.1   g.5846A>C
NM_005514.8   c.419A>T
NM_005514.8   c.419A>C
NM_005514.7   c.419A>T
NM_005514.7   c.419A>C
NM_005514.6   c.

rs3741843

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.10938833C>A
NC_000012.12   g.10938833C>G
NC_000012.12   g.10938833C>T
NC_000012.11   g.11091432C>A
NC_000012.11   g.11091432C>G
NC_000012.11   g.11091432C>T
NT_187658.1   g.137539C>A
NT_187658.1   g.137539C>G
NT_187658.1   g.137539C>T
NW_003571050.1   g

rs2020880

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.101041997G>A
NC_000011.9   g.100912728G>A
NG_016475.1   g.92817C>T
NM_000926.4   c.2594C>T
NM_001202474.3   c.2102C>T
NR_073141.2   n.2535C>T
NR_073142.2   n.2418C>T
NM_001271161.2   c.1796C>T
NR_073143.2   n.2150C>T
NM_001271162.2   c.812C>T
NM_0012711  

rs1801131

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.11794419T>G
NC_000001.10   g.11854476T>G
NG_013351.1   g.16685A>C
NM_005957.5   c.1286A>C
NM_005957.4   c.1286A>C
NM_001330358.1   c.1409A>C
XM_005263460.5   c.1286A>C
XM_005263460.1   c.1286A>C
XM_005263463.4   c.1040A>C
XM_005263463.1   c.1040A>C
XM_0  

rs1394205

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.49154446C>G
NC_000002.12   g.49154446C>T
NC_000002.11   g.49381585C>G
NC_000002.11   g.49381585C>T
NG_008146.1   g.5046G>C
NG_008146.1   g.5046G>A
NM_000145.4   c.-29G>C
NM_000145.4   c.-29G>A
NM_000145.3   c.-29G>C
NM_000145.3   c.-29G>A
NM_181446.3   c.

rs1045642

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.87509329A>G
NC_000007.14   g.87509329A>T
NC_000007.13   g.87138645A>G
NC_000007.13   g.87138645A>T
NG_011513.1   g.208920T>C
NG_011513.1   g.208920T>A
NM_000927.4   c.3435T>C
NM_000927.4   c.3435T>A
NM_001348945.1   c.3645T>C
NM_001348945.1   c.3645T>A
  

rs759992

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4788494A>C
NC_000016.10   g.4788494A>G
NC_000016.9   g.4838495A>C
NC_000016.9   g.4838495A>G
NG_030315.1   g.5028T>G
NG_030315.1   g.5028T>C
NM_144605.4   c.-237T>G
NM_144605.4   c.-237T>C
NM_001154458.2   c.-237T>G
NM_001154458.2   c.-237T>C
XM_0115225  

rs6166

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48962782C>T
NC_000002.11   g.49189921C>T
NG_008146.1   g.196710G>A
NM_000145.4   c.2039G>A
NM_000145.3   c.2039G>A
NM_181446.3   c.1961G>A
NM_181446.2   c.1961G>A
XM_011532736.2   c.1247G>A
XM_011532734.2   c.1808G>A
XM_011532733.2   c.2141G>A
XM_011532  

rs6165

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48963902C>A
NC_000002.12   g.48963902C>G
NC_000002.12   g.48963902C>T
NC_000002.11   g.49191041C>A
NC_000002.11   g.49191041C>G
NC_000002.11   g.49191041C>T
NG_008146.1   g.195590G>T
NG_008146.1   g.195590G>C
NG_008146.1   g.195590G>A
NM_000145.4   c.91

rs153109

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.28507775T>C
NC_000016.9   g.28519096T>C|SEQ=[T/C]|GENE=IL27

rs148454792

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.30233737C>A
NC_000011.9   g.30255284C>A
NG_008144.1   g.7722C>A
NM_000510.3   c.327C>A
NM_000510.2   c.327C>A
NM_001018080.2   c.327C>A
NM_001018080.1   c.327C>A
NP_000501.1   p.Ser109Arg
NP_001018090.1   p.Ser109Arg|SEQ=[C/A]|GENE=FSHB
LOC105376  

rs6170

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.30231961G>T
NC_000011.9   g.30253508G>T
NG_008144.1   g.5946G>T
NM_000510.3   c.59G>T
NM_000510.2   c.59G>T
NM_001018080.2   c.59G>T
NM_001018080.1   c.59G>T
NP_000501.1   p.Ser20Ile
NP_001018090.1   p.Ser20Ile|SEQ=[G/T]|GENE=FSHB
LOC105376607   10

rs369191560

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48982976C>A
NC_000002.12   g.48982976C>T
NC_000002.11   g.49210115C>A
NC_000002.11   g.49210115C>T
NG_008146.1   g.176516G>T
NG_008146.1   g.176516G>A
NM_000145.4   c.604G>T
NM_000145.4   c.604G>A
NM_000145.3   c.604G>T
NM_000145.3   c.604G>A
NM_181446.  

rs147685926

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48963865T>C
NC_000002.11   g.49191004T>C
NG_008146.1   g.195627A>G
NM_000145.4   c.956A>G
NM_000145.3   c.956A>G
NM_181446.3   c.878A>G
NM_181446.2   c.878A>G
XM_011532736.2   c.164A>G
XM_011532734.2   c.725A>G
XM_011532733.2   c.1058A>G
XM_011532735.2  

rs2477686

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.2461209G>C
NC_000001.10   g.2392648G>C
NT_187515.1   g.12399G>C|SEQ=[G/C]|GENE=PLCH2

rs3827527

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4788322G>A
NC_000016.9   g.4838323G>A
NG_030315.1   g.5200C>T
NM_144605.5   c.-65C>T
NM_144605.4   c.-65C>T
NM_001154458.3   c.-65C>T
NM_001154458.2   c.-65C>T
XM_011522379.3   c.-268C>T|SEQ=[G/A]|GENE=SEPTIN12
SMIM22   440335

rs2369679

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.96456415C>G
NC_000014.9   g.96456415C>T
NC_000014.8   g.96922752C>G
NC_000014.8   g.96922752C>T
NG_054631.1   g.69305C>G
NG_054631.1   g.69305C>T
NM_152327.5   c.1167C>G
NM_152327.5   c.1167C>T
NM_152327.4   c.1167C>G
NM_152327.4   c.1167C>T
NM_152327.3  

rs4919686

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.102832492A>C
NC_000010.10   g.104592249A>C
NG_007955.1   g.10042T>G|SEQ=[A/C]|GENE=CYP17A1
CYP17A1-AS1   102724307

rs1800629

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31575254G>A
NC_000006.11   g.31543031G>A
NG_007462.1   g.4682G>A
NG_012010.1   g.8156G>A
NT_113891.3   g.3052541A>G
NT_113891.2   g.3052647A>G
NT_167246.2   g.2880295G>A
NT_167246.1   g.2885915G>A
NT_167249.2   g.2874534G>A
NT_167249.1   g.2873832G>A
NT  

rs1799964

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31574531T>C
NC_000006.11   g.31542308T>C
NG_007462.1   g.3959T>C
NG_012010.1   g.7433T>C
NT_113891.3   g.3051818T>C
NT_113891.2   g.3051924T>C
NT_167246.2   g.2879572T>C
NT_167246.1   g.2885192T>C
NT_167249.2   g.2873811T>C
NT_167249.1   g.2873109T>C
NT  

rs1799724

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31574705C>T
NC_000006.11   g.31542482C>T
NG_007462.1   g.4133C>T
NG_012010.1   g.7607C>T
NT_113891.3   g.3051992C>T
NT_113891.2   g.3052098C>T
NT_167246.2   g.2879746C>T
NT_167246.1   g.2885366C>T
NT_167249.2   g.2873985C>T
NT_167249.1   g.2873283C>T
NT  

rs1800750

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31575186G>A
NC_000006.11   g.31542963G>A
NG_007462.1   g.4614G>A
NG_012010.1   g.8088G>A
NT_113891.3   g.3052473G>A
NT_113891.2   g.3052579G>A
NT_167246.2   g.2880227G>A
NT_167246.1   g.2885847G>A
NT_167249.2   g.2874466G>A
NT_167249.1   g.2873764G>A
NT  

rs361525

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31575324G>A
NC_000006.11   g.31543101G>A
NG_007462.1   g.4752G>A
NG_012010.1   g.8226G>A
NT_113891.3   g.3052611G>A
NT_113891.2   g.3052717G>A
NT_167246.2   g.2880365G>A
NT_167246.1   g.2885985G>A
NT_167249.2   g.2874604G>A
NT_167249.1   g.2873902G>A
NT  

rs3740753

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.101128040C>G
NC_000011.9   g.100998771C>G
NG_016475.1   g.6774G>C
NM_000926.4   c.1031G>C
NM_001202474.3   c.539G>C
NR_073141.2   n.1024G>C
NR_073142.2   n.1024G>C
NM_001271161.2   c.539G>C
NR_073143.2   n.1024G>C
XM_006718858.3   c.1031G>C
XM_011542869  

rs1545125

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.51083534A>G
NC_000007.13   g.51151231A>G
NG_051816.1   g.238328T>C|SEQ=[A/G]|GENE=COBL

rs1164594027

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4787507C>T
NC_000016.9   g.4837508C>T
NG_030315.1   g.6015G>A
NM_144605.5   c.139G>A
NM_144605.4   c.139G>A
NM_001154458.3   c.139G>A
NM_001154458.2   c.139G>A
XM_011522379.3   c.-65G>A
XM_006720846.2   c.139G>A
XM_024450155.1   c.139G>A
NP_653206.2   p.G

rs1384271239

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4787501C>G
NC_000016.9   g.4837502C>G
NG_030315.1   g.6021G>C
NM_144605.5   c.145G>C
NM_144605.4   c.145G>C
NM_001154458.3   c.145G>C
NM_001154458.2   c.145G>C
XM_011522379.3   c.-59G>C
XM_006720846.2   c.145G>C
XM_024450155.1   c.145G>C
NP_653206.2   p.G

rs1452958171

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4786019G>A
NC_000016.9   g.4836020G>A
NG_030315.1   g.7503C>T
NM_144605.5   c.253C>T
NM_144605.4   c.253C>T
NM_001154458.3   c.253C>T
NM_001154458.2   c.253C>T
XM_011522379.3   c.61C>T
XM_006720846.2   c.253C>T
XM_024450155.1   c.253C>T
XM_017022938.1   c

rs6500633

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4783550T>C
NC_000016.9   g.4833551T>C
NG_030315.1   g.9972A>G
NM_144605.5   c.638A>G
NM_144605.4   c.638A>G
NM_001154458.3   c.500A>G
NM_001154458.2   c.500A>G
XM_011522379.3   c.446A>G
XM_006720846.2   c.638A>G
XM_024450155.1   c.638A>G
XM_017022938.1  

Protein Summary

• Protein general information: P78363  
  • Name: Retinal specific phospholipid transporting ATPase ABCA4 (EC 7.6.2.1) (ATP binding cassette sub family A member 4) (RIM ABC transporter) (RIM protein) (RmP) (Retinal specific ATP binding cassette transporter) (Stargardt disease protein)
  • Length: 2273  
  • Mass: 255944
  • Tissue specificity: Retinal-specific. Seems to be exclusively found in the rims of rod photoreceptor cells.
• Sequence:

  MGFVRQIQLLLWKNWTLRKRQKIRFVVELVWPLSLFLVLIWLRNANPLYSHHECHFPNKAMPSAGMLPWLQGIFC
  NVNNPCFQSPTPGESPGIVSNYNNSILARVYRDFQELLMNAPESQHLGRIWTELHILSQFMDTLRTHPERIAGRG
  IRIRDILKDEETLTLFLIKNIGLSDSVVYLLINSQVRPEQFAHGVPDLALKDIACSEALLERFIIFSQRRGAKTV
  RYALCSLSQGTLQWIEDTLYANVDFFKLFRVLPTLLDSRSQGINLRSWGGILSDMSPRIQEFIHRPSMQDLLWVT
  RPLMQNGGPETFTKLMGILSDLLCGYPEGGGSRVLSFNWYEDNNYKAFLGIDSTRKDPIYSYDRRTTSFCNALIQ
  SLESNPLTKIAWRAAKPLLMGKILYTPDSPAARRILKNANSTFEELEHVRKLVKAWEEVGPQIWYFFDNSTQMNM
  IRDTLGNPTVKDFLNRQLGEEGITAEAILNFLYKGPRESQADDMANFDWRDIFNITDRTLRLVNQYLECLVLDKF
  ESYNDETQLTQRALSLLEENMFWAGVVFPDMYPWTSSLPPHVKYKIRMDIDVVEKTNKIKDRYWDSGPRADPVED
  FRYIWGGFAYLQDMVEQGITRSQVQAEAPVGIYLQQMPYPCFVDDSFMIILNRCFPIFMVLAWIYSVSMTVKSIV
  LEKELRLKETLKNQGVSNAVIWCTWFLDSFSIMSMSIFLLTIFIMHGRILHYSDPFILFLFLLAFSTATIMLCFL
  LSTFFSKASLAAACSGVIYFTLYLPHILCFAWQDRMTAELKKAVSLLSPVAFGFGTEYLVRFEEQGLGLQWSNIG
  NSPTEGDEFSFLLSMQMMLLDAAVYGLLAWYLDQVFPGDYGTPLPWYFLLQESYWLGGEGCSTREERALEKTEPL
  TEETEDPEHPEGIHDSFFEREHPGWVPGVCVKNLVKIFEPCGRPAVDRLNITFYENQITAFLGHNGAGKTTTLSI
  LTGLLPPTSGTVLVGGRDIETSLDAVRQSLGMCPQHNILFHHLTVAEHMLFYAQLKGKSQEEAQLEMEAMLEDTG
  LHHKRNEEAQDLSGGMQRKLSVAIAFVGDAKVVILDEPTSGVDPYSRRSIWDLLLKYRSGRTIIMSTHHMDEADL
  LGDRIAIIAQGRLYCSGTPLFLKNCFGTGLYLTLVRKMKNIQSQRKGSEGTCSCSSKGFSTTCPAHVDDLTPEQV
  LDGDVNELMDVVLHHVPEAKLVECIGQELIFLLPNKNFKHRAYASLFRELEETLADLGLSSFGISDTPLEEIFLK
  VTEDSDSGPLFAGGAQQKRENVNPRHPCLGPREKAGQTPQDSNVCSPGAPAAHPEGQPPPEPECPGPQLNTGTQL
  VLQHVQALLVKRFQHTIRSHKDFLAQIVLPATFVFLALMLSIVIPPFGEYPALTLHPWIYGQQYTFFSMDEPGSE
  QFTVLADVLLNKPGFGNRCLKEGWLPEYPCGNSTPWKTPSVSPNITQLFQKQKWTQVNPSPSCRCSTREKLTMLP
  ECPEGAGGLPPPQRTQRSTEILQDLTDRNISDFLVKTYPALIRSSLKSKFWVNEQRYGGISIGGKLPVVPITGEA
  LVGFLSDLGRIMNVSGGPITREASKEIPDFLKHLETEDNIKVWFNNKGWHALVSFLNVAHNAILRASLPKDRSPE
  EYGITVISQPLNLTKEQLSEITVLTTSVDAVVAICVIFSMSFVPASFVLYLIQERVNKSKHLQFISGVSPTTYWV
  TNFLWDIMNYSVSAGLVVGIFIGFQKKAYTSPENLPALVALLLLYGWAVIPMMYPASFLFDVPSTAYVALSCANL
  FIGINSSAITFILELFENNRTLLRFNAVLRKLLIVFPHFCLGRGLIDLALSQAVTDVYARFGEEHSANPFHWDLI
  GKNLFAMVVEGVVYFLLTLLVQRHFFLSQWIAEPTKEPIVDEDDDVAEERQRIITGGNKTDILRLHELTKIYPGT
  SSPAVDRLCVGVRPGECFGLLGVNGAGKTTTFKMLTGDTTVTSGDATVAGKSILTNISEVHQNMGYCPQFDAIDE
  LLTGREHLYLYARLRGVPAEEIEKVANWSIKSLGLTVYADCLAGTYSGGNKRKLSTAIALIGCPPLVLLDEPTTG
  MDPQARRMLWNVIVSIIREGRAVVLTSHSMEECEALCTRLAIMVKGAFRCMGTIQHLKSKFGDGYIVTMKIKSPK
  DDLLPDLNPVEQFFQGNFPGSVQRERHYNMLQFQVSSSSLARIFQLLLSHKDSLLIEEYSVTQTTLDQVFVNFAK
  QQTESHDLPLHPRAAGASRQAQD

• Structural information:
  • Protein Domains: (929..116-)
    1 (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434-)
    (1938..217-)
    2 (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434"-)
  • Interpro: IPR003593  IPR003439  IPR017871  IPR026082  IPR005951   IPR027417  
  • Prosite: PS00211 PS50893
  • STRING: ENSP00000359245
• Other Databases: GeneCards:  ABCA4  Malacards:  ABCA4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0042626	ATPase-coupled transmembrane transporter activity	IBA	molecular function
GO:0005548	phospholipid transporter activity	IBA	molecular function
GO:0005319	lipid transporter activity	IBA	molecular function
GO:0140326	ATPase-coupled intramembrane lipid transporter activity	IBA	molecular function
GO:0006869	lipid transport	IBA	biological process
GO:0140327	flippase activity	IDA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0007601	visual perception	IEA	biological process
GO:0042626	ATPase-coupled transmembrane transporter activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0050896	response to stimulus	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	TAS	molecular function
GO:0005215	transporter activity	TAS	molecular function
GO:0042626	ATPase-coupled transmembrane transporter activity	TAS	molecular function
GO:0016020	membrane	TAS	cellular component
GO:0007601	visual perception	TAS	biological process
GO:0007603	phototransduction, visible light	TAS	biological process
GO:0140326	ATPase-coupled intramembrane lipid transporter activity	IEA	molecular function
GO:0001523	retinoid metabolic process	TAS	biological process
GO:0055085	transmembrane transport	TAS	biological process
GO:0097381	photoreceptor disc membrane	TAS	cellular component
GO:0006649	phospholipid transfer to membrane	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0045494	photoreceptor cell maintenance	IEA	biological process
GO:0140347	N-retinylidene-phosphatidylethanolamine flippase activity	IEA	molecular function
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0140326	ATPase-coupled intramembrane lipid transporter activity	IEA	molecular function
GO:0090555	phosphatidylethanolamine flippase activity	IDA	molecular function
GO:0045332	phospholipid translocation	IDA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa02010	ABC transporters

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Cone-rod dystrophy and cone dystrophy	KEGG:H00481
Age-related macular degeneration	KEGG:H00821
Stargardt disease	KEGG:H00819
Retinitis pigmentosa	KEGG:H00527
Cone-rod dystrophy and cone dystrophy	KEGG:H00481
Age-related macular degeneration	KEGG:H00821
Stargardt disease	KEGG:H00819
Retinitis pigmentosa	PMID:9466990
macular degeneration	PMID:9295268
Retinal degeneration	PMID:22661473
Fundus dystrophy	PMID:16546111
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)