Gene/Proteome Database (LMPD)

LMPD ID
LMP001405
Gene ID
11304
Species
Mus musculus (Mouse)
Gene Name
ATP-binding cassette, sub-family A (ABC1), member 4
Gene Symbol
Abca4
Synonyms
AW050280; Abc10; Abcr; D430003I15Rik; RmP
Alternate Names
retinal-specific ATP-binding cassette transporter; Rim protein; RIM ABC transporter; ATP-binding cassette 10; ATP-binding cassette sub-family A member 4
Chromosome
3
Map Location
3 G1|3 52.94 cM
Summary
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 subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein was the first of the ABC transporters to be observed in photoreceptors and may play a role in the photoresponse. Mutations in the human gene are found in patients diagnosed with Stargardt disease and are associated with retinitis pigmentosa-19 and macular degeneration age-related 2. [provided by RefSeq, Jul 2008]
Orthologs
View orthologs and multiple alignments for Abca4

Proteins

retinal-specific ATP-binding cassette transporter
Refseq ID NP_031404
Protein GI 6671495
UniProt ID O35600
mRNA ID NM_007378
Length 2310
RefSeq Status REVIEWED
MGFLRQIQLLLWKNWTLRKRQKIRFVVELVWPLSLFLVLIWLRNANPLYSQHECHFPNKAMPSAGLLPWLQGIFCNMNNPCFQNPTPGESPGTVSNYNNSILARVYRDFQELFMDTPEVQHLGQVWAELRTLSQFMDTLRTHPERFAGRGLQIRDILKDEEALTLFLMRNIGLSDSVAHLLVNSQVRVEQFAYGVPDLELTDIACSEALLQRFIIFSQRRGAQTVRDALCPLSQVTLQWIEDTLYADVDFFKLFHVLPTLLDSSSQGINLRFWGGILSDLSPRMQKFIHRPSVQDLLWVSRPLLQNGGPETFTQLMSILSDLLCGYPEGGGSRVFSFNWYEDNNYKAFLGIDSTRKDPAYSYDKRTTSFCNSLIQSLESNPLTKIAWRAAKPLLMGKILFTPDSPAARRIMKNANSTFEELDRVRKLVKAWEEVGPQIWYFFEKSTQMTVIRDTLQHPTVKDFINRQLGEEGITTEAVLNFFSNGPQEKQADDMTSFDWRDIFNITDRFLRLANQYLECLVLDKFESYDDEVQLTQRALSLLEENRFWAGVVFPGMYPWASSLPPHVKYKIRMDIDVVEKTNKIKDRYWDSGPRADPVEDFRYIWGGFAYLQDMVEQGIVKSQMQAEPPIGVYLQQMPYPCFVDDSFMIILNRCFPIFMVLAWIYSVSMTVKGIVLEKELRLKETLKNQGVSNAVIWCTWFLDSFSIMALSIFLLTLFIMHGRILHYSDPFILFLFLLAFATATIMQSFLLSTLFSKASLAAACSGVIYFTLYLPHVLCFAWQDRMTADLKTTVSLLSSVAFGFGTEYLVRFEEQGLGLQWSNIGKSPLEGDEFSFLLSMKMMLLDAALYGLLAWYLDQVFPGDYGTPLPWYFLLQESYWLGGEGCSTREERALEKTEPLTEEMEDPEHPEGMNDSFFERELPGLVPGVCVKNLVKVFEPSGRPAVDRLNITFYENQITAFLGHNGAGKTTTLSILTGLLPPTSGTVLIGGKDIETNLDVVRQSLGMCPQHNILFHHLTVAEHILFYAQLKGRSWEEAQLEMEAMLEDTGLHHKRNEEAQDLSGGMQRKLSVAIAFVGDSKVVVLDEPTSGVDPYSRRSIWDLLLKYRSGRTIIMSTHHMDEADLLGDRIAIISQGRLYCSGTPLFLKNCFGTGFYLTLVRKMKNIQSQRGGCEGVCSCTSKGFSTRCPTRVDEITEEQVLDGDVQELMDLVYHHVPEAKLVECIGQELIFLLPNKNFKQRAYASLFRELEETLADLGLSSFGISDTPLEEIFLKVTEDAGAGSMFVGGAQQKREQAGLRHPCSAPTEKLRQYAQAPHTCSPGQVDPPKGQPSPEPEDPGVPFNTGARLILQHVQALLVKRFHHTIRSRKDFVAQIVLPATFVFLALMLSIIVPPFGEFPALTLHPWMYGHQYTFFSMDEPNNEHLEVLADVLLNRPGFGNRCLKEEWLPEYPCINATSWKTPSVSPNITHLFQKQKWTAAHPSPSCKCSTREKLTMLPECPEGAGGLPPPQRTQRSTEVLQDLTNRNISDYLVKTYPALIRSSLKSKFWVNEQRYGGISIGGKLPAIPISGEALVGFLSGLGQMMNVSGGPVTREASKEMLDFLKHLETTDNIKVWFNNKGWHALVSFLNVAHNAILRASLPRDRDPEEYGITVISQPLNLTKEQLSDITVLTTSVDAVVAICVIFAMSFVPASFVLYLIQERVTKAKHLQFISGVSPTTYWLTNFLWDIMNYAVSAGLVVGIFIGFQKKAYTSPDNLPALVSLLMLYGWAVIPMMYPASFLFEVPSTAYVALSCANLFIGINSSAITFVLELFENNRTLLRFNAMLRKLLIVFPHFCLGRGLIDLALSQAVTDVYAQFGEEYSANPFQWDLIGKNLVAMAIEGVVYFLLTLLIQHHFFLTRWIAEPAREPVFDEDDDVAEERQRVMSGGNKTDILKLNELTKVYSGSSSPAVDRLCVGVRPGECFGLLGVNGAGKTTTFKMLTGDTTVTSGDATVAGKSILTSISDVHQNMGYCPQFDAIDDLLTGREHLYLYARLRGVPSKEIEKVANWGIQSLGLSLYADRLAGTYSGGNKRKLSTAIALTGCPPLLLLDEPTTGMDPQARRMLWNTIVSIIREGRAVVLTSHSMEECEALCTRLAIMVKGTFQCLGTIQHLKYKFGDGYIVTMKIKSPKDDLLPDLNPVEQFFQGNFPGSVQRERHHSMLQFQVPSSSLARIFQLLISHKDSLLIEEYSVTQTTLDQVFVNFAKQQTETYDLPLHPRAAGASWQAKLEEKSGRLQTQEPLPAGSEQLANGSNPTAAEDKHTRSPQ

Gene Information

Entrez Gene ID
11304
Gene Name
ATP-binding cassette, sub-family A (ABC1), member 4
Gene Symbol
Abca4
Species
Mus musculus

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005887 TAS:MGI C integral component of plasma membrane
GO:0005524 IEA:UniProtKB-KW F ATP binding
GO:0042626 TAS:MGI F ATPase activity, coupled to transmembrane movement of substances
GO:0005548 IMP:MGI F phospholipid transporter activity
GO:0004012 IMP:MGI F phospholipid-translocating ATPase activity
GO:0006649 IMP:MGI P phospholipid transfer to membrane
GO:0045332 IMP:GOC P phospholipid translocation
GO:0045494 IMP:MGI P photoreceptor cell maintenance
GO:0050896 IEA:UniProtKB-KW P response to stimulus
GO:0055085 TAS:GOC P transmembrane transport
GO:0007601 IMP:MGI P visual perception

KEGG Pathway Links

KEGG Pathway ID Description
ko02010 ABC transporters
mmu02010 ABC transporters

REACTOME Pathway Links

REACTOME Pathway ID Description
5893610 ABC-family proteins mediated transport
5892894 The canonical retinoid cycle in rods (twilight vision)

Domain Information

InterPro Annotations

Accession Description
IPR003593 AAA+ ATPase domain
IPR026082 ABC transporter A, ABCA
IPR017871 ABC transporter, conserved site
IPR003439 ABC_transporter-like
IPR027417 P-loop containing nucleoside triphosphate hydrolase
IPR005951 Retinal-specific ATP-binding cassette transporter

UniProt Annotations

Entry Information

Gene Name
ATP-binding cassette, sub-family A (ABC1), member 4
Protein Entry
ABCA4_MOUSE
UniProt ID
O35600
Species
Mouse

Comments

Comment Type Description
Disruption Phenotype Delayed dark adaptation but normal final rod threshold. {ECO:0000269|PubMed:10412977}.
Function In the visual cycle, acts as an inward-directed retinoid flipase, retinoid substrates imported by ABCA4 from the extracellular or intradiscal (rod) membrane surfaces to the cytoplasmic membrane surface are all-trans-retinaldehyde (ATR) and N-retinyl-phosphatidyl-ethanolamine (NR-PE). Once transported to the cytoplasmic surface, ATR is reduced to vitamin A by trans- retinol dehydrogenase (tRDH) and then transferred to the retinal pigment epithelium (RPE) where it is converted to 11-cis-retinal. May play a role in photoresponse, removing ATR/NR-PE from the extracellular photoreceptor surfaces during bleach recovery (By similarity). {ECO:0000250}.
Similarity Belongs to the ABC transporter superfamily. ABCA family. {ECO:0000305}.
Similarity Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule:PRU00434}.
Subcellular Location Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=Localized to outer segment disk edges of rods and cones, with around one million copies/photoreceptor. {ECO:0000250}.
Tissue Specificity Retinal-specific. Seems to be exclusively found in the rims of rod photoreceptor cells.

Identical and Related Proteins

Unique RefSeq proteins for LMP001405 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
6671495 RefSeq NP_031404 2310 retinal-specific ATP-binding cassette transporter

Identical Sequences to LMP001405 proteins

Reference Database Accession Length Protein Name
GI:6671495 GenBank AAC23916.1 2310 ATP-binding cassette transporter [Mus musculus]
GI:6671495 GenBank AAH57853.1 2310 ATP-binding cassette, sub-family A (ABC1), member 4 [Mus musculus]
GI:6671495 SwissProt O35600.1 2310 RecName: Full=Retinal-specific ATP-binding cassette transporter; AltName: Full=ATP-binding cassette sub-family A member 4; AltName: Full=RIM ABC transporter; Short=RIM protein; Short=RmP [Mus musculus]

Related Sequences to LMP001405 proteins

Reference Database Accession Length Protein Name
GI:6671495 GenBank EDL82093.1 2290 ATP-binding cassette, sub-family A (ABC1), member 4 (predicted), isoform CRA_a [Rattus norvegicus]
GI:6671495 RefSeq NP_001101191.1 2290 retinal-specific ATP-binding cassette transporter [Rattus norvegicus]
GI:6671495 RefSeq XP_005357274.1 2311 PREDICTED: retinal-specific ATP-binding cassette transporter [Microtus ochrogaster]
GI:6671495 RefSeq XP_006233304.1 2312 PREDICTED: retinal-specific ATP-binding cassette transporter isoform X1 [Rattus norvegicus]
GI:6671495 RefSeq XP_006500972.1 2250 PREDICTED: retinal-specific ATP-binding cassette transporter isoform X1 [Mus musculus]
GI:6671495 RefSeq XP_006500973.1 2250 PREDICTED: retinal-specific ATP-binding cassette transporter isoform X2 [Mus musculus]