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Protein

Retinal-specific ATP-binding cassette transporter

Gene

Abca4

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

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).By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi963 – 9708ATP 1PROSITE-ProRule annotation
Nucleotide bindingi1971 – 19788ATP 2PROSITE-ProRule annotation

GO - Molecular functioni

  • ATPase activity, coupled to transmembrane movement of substances Source: MGI
  • ATP binding Source: UniProtKB-KW
  • phospholipid-translocating ATPase activity Source: MGI
  • phospholipid transporter activity Source: MGI

GO - Biological processi

  • phospholipid transfer to membrane Source: MGI
  • photoreceptor cell maintenance Source: MGI
  • response to stimulus Source: UniProtKB-KW
  • visual perception Source: MGI
Complete GO annotation...

Keywords - Biological processi

Sensory transduction, Transport, Vision

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-MMU-2453902. The canonical retinoid cycle in rods (twilight vision).
R-MMU-382556. ABC-family proteins mediated transport.

Names & Taxonomyi

Protein namesi
Recommended name:
Retinal-specific ATP-binding cassette transporter
Alternative name(s):
ATP-binding cassette sub-family A member 4
RIM ABC transporter
Short name:
RIM protein
Short name:
RmP
Gene namesi
Name:Abca4
Synonyms:Abcr
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 3

Organism-specific databases

MGIiMGI:109424. Abca4.

Subcellular locationi

  • Membrane By similarity; Multi-pass membrane protein By similarity

  • Note: Localized to outer segment disk edges of rods and cones, with around one million copies/photoreceptor.By similarity

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2121CytoplasmicAdd
BLAST
Transmembranei22 – 4221HelicalSequence analysisAdd
BLAST
Topological domaini43 – 646604ExtracellularBy similarityAdd
BLAST
Transmembranei647 – 66721HelicalSequence analysisAdd
BLAST
Transmembranei700 – 72021HelicalSequence analysisAdd
BLAST
Transmembranei731 – 75121HelicalSequence analysisAdd
BLAST
Transmembranei760 – 78021HelicalSequence analysisAdd
BLAST
Transmembranei836 – 85621HelicalSequence analysisAdd
BLAST
Topological domaini857 – 1375519CytoplasmicBy similarityAdd
BLAST
Transmembranei1376 – 139621HelicalSequence analysisAdd
BLAST
Topological domaini1397 – 1726330ExtracellularBy similarityAdd
BLAST
Transmembranei1727 – 174721HelicalSequence analysisAdd
BLAST
Transmembranei1759 – 177921HelicalSequence analysisAdd
BLAST
Transmembranei1792 – 181221HelicalSequence analysisAdd
BLAST
Transmembranei1831 – 185121HelicalSequence analysisAdd
BLAST
Transmembranei1873 – 189321HelicalSequence analysisAdd
BLAST
Topological domaini1894 – 2310417CytoplasmicBy similarityAdd
BLAST

GO - Cellular componenti

  • integral component of plasma membrane Source: MGI
  • intracellular membrane-bounded organelle Source: GO_Central
  • photoreceptor outer segment Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Disruption phenotypei

Delayed dark adaptation but normal final rod threshold.1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 23102310Retinal-specific ATP-binding cassette transporterPRO_0000093302Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi75 ↔ 324By similarity
Glycosylationi98 – 981N-linked (GlcNAc...)Sequence analysis
Glycosylationi415 – 4151N-linked (GlcNAc...)Sequence analysis
Glycosylationi504 – 5041N-linked (GlcNAc...)Sequence analysis
Glycosylationi1468 – 14681N-linked (GlcNAc...)Sequence analysis
Disulfide bondi1487 ↔ 1501By similarity
Glycosylationi1528 – 15281N-linked (GlcNAc...)Sequence analysis
Glycosylationi1587 – 15871N-linked (GlcNAc...)Sequence analysis
Glycosylationi1661 – 16611N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiO35600.
PaxDbiO35600.
PRIDEiO35600.

PTM databases

iPTMnetiO35600.
PhosphoSiteiO35600.

Expressioni

Tissue specificityi

Retinal-specific. Seems to be exclusively found in the rims of rod photoreceptor cells.

Gene expression databases

BgeeiO35600.
ExpressionAtlasiO35600. baseline and differential.
GenevisibleiO35600. MM.

Interactioni

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000013995.

Structurei

3D structure databases

ProteinModelPortaliO35600.
SMRiO35600. Positions 891-1143, 1910-2167.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini929 – 1160232ABC transporter 1PROSITE-ProRule annotationAdd
BLAST
Domaini1937 – 2169233ABC transporter 2PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 2 ABC transporter domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0059. Eukaryota.
COG1131. LUCA.
GeneTreeiENSGT00760000118965.
HOGENOMiHOG000231547.
HOVERGENiHBG050436.
InParanoidiO35600.
KOiK05644.
OMAiHYNMLQY.
OrthoDBiEOG78D7J6.
PhylomeDBiO35600.
TreeFamiTF105191.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR005951. ABCA4/ABCR.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR19229. PTHR19229. 6 hits.
PTHR19229:SF97. PTHR19229:SF97. 6 hits.
PfamiPF00005. ABC_tran. 2 hits.
[Graphical view]
SMARTiSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
TIGRFAMsiTIGR01257. rim_protein. 1 hit.
PROSITEiPS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O35600-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGFLRQIQLL LWKNWTLRKR QKIRFVVELV WPLSLFLVLI WLRNANPLYS
60 70 80 90 100
QHECHFPNKA MPSAGLLPWL QGIFCNMNNP CFQNPTPGES PGTVSNYNNS
110 120 130 140 150
ILARVYRDFQ ELFMDTPEVQ HLGQVWAELR TLSQFMDTLR THPERFAGRG
160 170 180 190 200
LQIRDILKDE EALTLFLMRN IGLSDSVAHL LVNSQVRVEQ FAYGVPDLEL
210 220 230 240 250
TDIACSEALL QRFIIFSQRR GAQTVRDALC PLSQVTLQWI EDTLYADVDF
260 270 280 290 300
FKLFHVLPTL LDSSSQGINL RFWGGILSDL SPRMQKFIHR PSVQDLLWVS
310 320 330 340 350
RPLLQNGGPE TFTQLMSILS DLLCGYPEGG GSRVFSFNWY EDNNYKAFLG
360 370 380 390 400
IDSTRKDPAY SYDKRTTSFC NSLIQSLESN PLTKIAWRAA KPLLMGKILF
410 420 430 440 450
TPDSPAARRI MKNANSTFEE LDRVRKLVKA WEEVGPQIWY FFEKSTQMTV
460 470 480 490 500
IRDTLQHPTV KDFINRQLGE EGITTEAVLN FFSNGPQEKQ ADDMTSFDWR
510 520 530 540 550
DIFNITDRFL RLANQYLECL VLDKFESYDD EVQLTQRALS LLEENRFWAG
560 570 580 590 600
VVFPGMYPWA SSLPPHVKYK IRMDIDVVEK TNKIKDRYWD SGPRADPVED
610 620 630 640 650
FRYIWGGFAY LQDMVEQGIV KSQMQAEPPI GVYLQQMPYP CFVDDSFMII
660 670 680 690 700
LNRCFPIFMV LAWIYSVSMT VKGIVLEKEL RLKETLKNQG VSNAVIWCTW
710 720 730 740 750
FLDSFSIMAL SIFLLTLFIM HGRILHYSDP FILFLFLLAF ATATIMQSFL
760 770 780 790 800
LSTLFSKASL AAACSGVIYF TLYLPHVLCF AWQDRMTADL KTTVSLLSSV
810 820 830 840 850
AFGFGTEYLV RFEEQGLGLQ WSNIGKSPLE GDEFSFLLSM KMMLLDAALY
860 870 880 890 900
GLLAWYLDQV FPGDYGTPLP WYFLLQESYW LGGEGCSTRE ERALEKTEPL
910 920 930 940 950
TEEMEDPEHP EGMNDSFFER ELPGLVPGVC VKNLVKVFEP SGRPAVDRLN
960 970 980 990 1000
ITFYENQITA FLGHNGAGKT TTLSILTGLL PPTSGTVLIG GKDIETNLDV
1010 1020 1030 1040 1050
VRQSLGMCPQ HNILFHHLTV AEHILFYAQL KGRSWEEAQL EMEAMLEDTG
1060 1070 1080 1090 1100
LHHKRNEEAQ DLSGGMQRKL SVAIAFVGDS KVVVLDEPTS GVDPYSRRSI
1110 1120 1130 1140 1150
WDLLLKYRSG RTIIMSTHHM DEADLLGDRI AIISQGRLYC SGTPLFLKNC
1160 1170 1180 1190 1200
FGTGFYLTLV RKMKNIQSQR GGCEGVCSCT SKGFSTRCPT RVDEITEEQV
1210 1220 1230 1240 1250
LDGDVQELMD LVYHHVPEAK LVECIGQELI FLLPNKNFKQ RAYASLFREL
1260 1270 1280 1290 1300
EETLADLGLS SFGISDTPLE EIFLKVTEDA GAGSMFVGGA QQKREQAGLR
1310 1320 1330 1340 1350
HPCSAPTEKL RQYAQAPHTC SPGQVDPPKG QPSPEPEDPG VPFNTGARLI
1360 1370 1380 1390 1400
LQHVQALLVK RFHHTIRSRK DFVAQIVLPA TFVFLALMLS IIVPPFGEFP
1410 1420 1430 1440 1450
ALTLHPWMYG HQYTFFSMDE PNNEHLEVLA DVLLNRPGFG NRCLKEEWLP
1460 1470 1480 1490 1500
EYPCINATSW KTPSVSPNIT HLFQKQKWTA AHPSPSCKCS TREKLTMLPE
1510 1520 1530 1540 1550
CPEGAGGLPP PQRTQRSTEV LQDLTNRNIS DYLVKTYPAL IRSSLKSKFW
1560 1570 1580 1590 1600
VNEQRYGGIS IGGKLPAIPI SGEALVGFLS GLGQMMNVSG GPVTREASKE
1610 1620 1630 1640 1650
MLDFLKHLET TDNIKVWFNN KGWHALVSFL NVAHNAILRA SLPRDRDPEE
1660 1670 1680 1690 1700
YGITVISQPL NLTKEQLSDI TVLTTSVDAV VAICVIFAMS FVPASFVLYL
1710 1720 1730 1740 1750
IQERVTKAKH LQFISGVSPT TYWLTNFLWD IMNYAVSAGL VVGIFIGFQK
1760 1770 1780 1790 1800
KAYTSPDNLP ALVSLLMLYG WAVIPMMYPA SFLFEVPSTA YVALSCANLF
1810 1820 1830 1840 1850
IGINSSAITF VLELFENNRT LLRFNAMLRK LLIVFPHFCL GRGLIDLALS
1860 1870 1880 1890 1900
QAVTDVYAQF GEEYSANPFQ WDLIGKNLVA MAIEGVVYFL LTLLIQHHFF
1910 1920 1930 1940 1950
LTRWIAEPAR EPVFDEDDDV AEERQRVMSG GNKTDILKLN ELTKVYSGSS
1960 1970 1980 1990 2000
SPAVDRLCVG VRPGECFGLL GVNGAGKTTT FKMLTGDTTV TSGDATVAGK
2010 2020 2030 2040 2050
SILTSISDVH QNMGYCPQFD AIDDLLTGRE HLYLYARLRG VPSKEIEKVA
2060 2070 2080 2090 2100
NWGIQSLGLS LYADRLAGTY SGGNKRKLST AIALTGCPPL LLLDEPTTGM
2110 2120 2130 2140 2150
DPQARRMLWN TIVSIIREGR AVVLTSHSME ECEALCTRLA IMVKGTFQCL
2160 2170 2180 2190 2200
GTIQHLKYKF GDGYIVTMKI KSPKDDLLPD LNPVEQFFQG NFPGSVQRER
2210 2220 2230 2240 2250
HHSMLQFQVP SSSLARIFQL LISHKDSLLI EEYSVTQTTL DQVFVNFAKQ
2260 2270 2280 2290 2300
QTETYDLPLH PRAAGASWQA KLEEKSGRLQ TQEPLPAGSE QLANGSNPTA
2310
AEDKHTRSPQ
Length:2,310
Mass (Da):260,209
Last modified:January 1, 1998 - v1
Checksum:i8370C6C8A62EF294
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF000149 mRNA. Translation: AAC23916.1.
BC057853 mRNA. Translation: AAH57853.1.
CCDSiCCDS38617.1.
RefSeqiNP_031404.1. NM_007378.1.
UniGeneiMm.3918.

Genome annotation databases

EnsembliENSMUST00000013995; ENSMUSP00000013995; ENSMUSG00000028125.
GeneIDi11304.
KEGGimmu:11304.
UCSCiuc008rel.1. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF000149 mRNA. Translation: AAC23916.1.
BC057853 mRNA. Translation: AAH57853.1.
CCDSiCCDS38617.1.
RefSeqiNP_031404.1. NM_007378.1.
UniGeneiMm.3918.

3D structure databases

ProteinModelPortaliO35600.
SMRiO35600. Positions 891-1143, 1910-2167.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000013995.

PTM databases

iPTMnetiO35600.
PhosphoSiteiO35600.

Proteomic databases

MaxQBiO35600.
PaxDbiO35600.
PRIDEiO35600.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000013995; ENSMUSP00000013995; ENSMUSG00000028125.
GeneIDi11304.
KEGGimmu:11304.
UCSCiuc008rel.1. mouse.

Organism-specific databases

CTDi24.
MGIiMGI:109424. Abca4.

Phylogenomic databases

eggNOGiKOG0059. Eukaryota.
COG1131. LUCA.
GeneTreeiENSGT00760000118965.
HOGENOMiHOG000231547.
HOVERGENiHBG050436.
InParanoidiO35600.
KOiK05644.
OMAiHYNMLQY.
OrthoDBiEOG78D7J6.
PhylomeDBiO35600.
TreeFamiTF105191.

Enzyme and pathway databases

ReactomeiR-MMU-2453902. The canonical retinoid cycle in rods (twilight vision).
R-MMU-382556. ABC-family proteins mediated transport.

Miscellaneous databases

PROiO35600.
SOURCEiSearch...

Gene expression databases

BgeeiO35600.
ExpressionAtlasiO35600. baseline and differential.
GenevisibleiO35600. MM.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR005951. ABCA4/ABCR.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR19229. PTHR19229. 6 hits.
PTHR19229:SF97. PTHR19229:SF97. 6 hits.
PfamiPF00005. ABC_tran. 2 hits.
[Graphical view]
SMARTiSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
TIGRFAMsiTIGR01257. rim_protein. 1 hit.
PROSITEiPS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Azarian S.M., Travis G.H.
    Submitted (JUN-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Strain: C57BL/6J.
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Eye.
  3. "Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice."
    Weng J., Mata N.L., Azarian S.M., Tzekov R.T., Birch D.G., Travis G.H.
    Cell 98:13-23(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: DISRUPTION PHENOTYPE.

Entry informationi

Entry nameiABCA4_MOUSE
AccessioniPrimary (citable) accession number: O35600
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 5, 2004
Last sequence update: January 1, 1998
Last modified: July 6, 2016
This is version 128 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.