Details for: ABCA4
Associated with
Other Information
Genular Protein ID: 931430585
Symbol: ABCA4_HUMAN
Name: ATP-binding cassette sub-family A member 4
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 9054934
Title: A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
PubMed ID: 9054934
DOI: 10.1038/ng0397-236
PubMed ID: 9202155
Title: The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR).
PubMed ID: 9202155
PubMed ID: 9503029
Title: Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease.
PubMed ID: 9503029
PubMed ID: 9490294
Title: Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease.
PubMed ID: 9490294
PubMed ID: 16710414
Title: The DNA sequence and biological annotation of human chromosome 1.
PubMed ID: 16710414
DOI: 10.1038/nature04727
PubMed ID: 17286855
Title: Mapping of transcription start sites of human retina expressed genes.
PubMed ID: 17286855
PubMed ID: 10075733
Title: Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease.
PubMed ID: 10075733
PubMed ID: 9466990
Title: Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.
PubMed ID: 9466990
DOI: 10.1093/hmg/7.3.355
PubMed ID: 11320094
Title: Membrane topology of the ATP binding cassette transporter ABCR and its relationship to ABC1 and related ABCA transporters: identification of N-linked glycosylation sites.
PubMed ID: 11320094
PubMed ID: 20404325
Title: Interaction of extracellular domain 2 of the human retina-specific ATP-binding cassette transporter (ABCA4) with all-trans-retinal.
PubMed ID: 20404325
PubMed ID: 23144455
Title: Retinoid binding properties of nucleotide binding domain 1 of the Stargardt disease-associated ATP binding cassette (ABC) transporter, ABCA4.
PubMed ID: 23144455
PubMed ID: 22735453
Title: ABCA4 is an N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine importer.
PubMed ID: 22735453
DOI: 10.1038/ncomms1927
PubMed ID: 24097981
Title: Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.
PubMed ID: 24097981
PubMed ID: 31481235
Title: Functional significance of the conserved C-Terminal VFVNFA motif in the retina-specific ABC transporter, ABCA4, and its role in inherited visual disease.
PubMed ID: 31481235
PubMed ID: 33605212
Title: Molecular structures of the eukaryotic retinal importer ABCA4.
PubMed ID: 33605212
DOI: 10.7554/elife.63524
PubMed ID: 9295268
Title: Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
PubMed ID: 9295268
PubMed ID: 9781034
Title: Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
PubMed ID: 9781034
PubMed ID: 9973280
Title: Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
PubMed ID: 9973280
DOI: 10.1086/302251
PubMed ID: 10090887
Title: The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the western European population and allows the classification of ABCR Mutations in patients with Stargardt disease.
PubMed ID: 10090887
DOI: 10.1086/302323
PubMed ID: 10612508
Title: A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease.
PubMed ID: 10612508
PubMed ID: 10206579
Title: Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene.
PubMed ID: 10206579
PubMed ID: 10880298
Title: Further evidence for an association of ABCR alleles with age-related macular degeneration.
PubMed ID: 10880298
DOI: 10.1086/303018
PubMed ID: 10958763
Title: A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
PubMed ID: 10958763
DOI: 10.1086/303090
PubMed ID: 10958761
Title: Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.
PubMed ID: 10958761
DOI: 10.1086/303079
PubMed ID: 10746567
Title: Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.
PubMed ID: 10746567
PubMed ID: 10634594
Title: An analysis of ABCR mutations in British patients with recessive retinal dystrophies.
PubMed ID: 10634594
PubMed ID: 10711710
Title: New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.
PubMed ID: 10711710
PubMed ID: 11017087
Title: Biochemical defects in ABCR protein variants associated with human retinopathies.
PubMed ID: 11017087
DOI: 10.1038/79994
PubMed ID: 11594993
Title: Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1).
PubMed ID: 11594993
PubMed ID: 11384574
Title: Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease?
PubMed ID: 11384574
PubMed ID: 11346402
Title: Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration.
PubMed ID: 11346402
PubMed ID: 11379881
Title: Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).
PubMed ID: 11379881
PubMed ID: 11385708
Title: Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.
PubMed ID: 11385708
DOI: 10.1002/humu.1133
PubMed ID: 11328725
Title: An analysis of allelic variation in the ABCA4 gene.
PubMed ID: 11328725
PubMed ID: 11527935
Title: Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.
PubMed ID: 11527935
PubMed ID: 12111378
Title: Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8.
PubMed ID: 12111378
PubMed ID: 15192030
Title: Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations.
PubMed ID: 15192030
PubMed ID: 16959974
Title: The consensus coding sequences of human breast and colorectal cancers.
PubMed ID: 16959974
PubMed ID: 19028736
Title: Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.
PubMed ID: 19028736
PubMed ID: 18977788
Title: Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.
PubMed ID: 18977788
PubMed ID: 19265867
Title: Novel mutations in of the ABCR gene in Italian patients with Stargardt disease.
PubMed ID: 19265867
DOI: 10.1038/eye.2009.35
PubMed ID: 20335603
Title: ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.
PubMed ID: 20335603
DOI: 10.1167/iovs.09-4655
PubMed ID: 23143460
Title: Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications.
PubMed ID: 23143460
PubMed ID: 23419329
Title: ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation.
PubMed ID: 23419329
PubMed ID: 24444108
Title: Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.
PubMed ID: 24444108
PubMed ID: 24457364
Title: Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease.
PubMed ID: 24457364
PubMed ID: 25346251
Title: An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.
PubMed ID: 25346251
DOI: 10.1002/humu.22716
PubMed ID: 26780318
Title: Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.
PubMed ID: 26780318
PubMed ID: 29847635
Title: Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease.
PubMed ID: 29847635
PubMed ID: 30120214
Title: Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa.
PubMed ID: 30120214
PubMed ID: 33375396
Title: Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration.
PubMed ID: 33375396
DOI: 10.3390/ijms22010185
Sequence Information:
- Length: 2273
- Mass: 255944
- Checksum: 6E7012D3041CD043
- Sequence:
MGFVRQIQLL LWKNWTLRKR QKIRFVVELV WPLSLFLVLI WLRNANPLYS HHECHFPNKA MPSAGMLPWL QGIFCNVNNP CFQSPTPGES PGIVSNYNNS ILARVYRDFQ ELLMNAPESQ HLGRIWTELH ILSQFMDTLR THPERIAGRG IRIRDILKDE ETLTLFLIKN IGLSDSVVYL LINSQVRPEQ FAHGVPDLAL KDIACSEALL ERFIIFSQRR GAKTVRYALC SLSQGTLQWI EDTLYANVDF FKLFRVLPTL LDSRSQGINL RSWGGILSDM SPRIQEFIHR PSMQDLLWVT RPLMQNGGPE TFTKLMGILS DLLCGYPEGG GSRVLSFNWY EDNNYKAFLG IDSTRKDPIY SYDRRTTSFC NALIQSLESN PLTKIAWRAA KPLLMGKILY TPDSPAARRI LKNANSTFEE LEHVRKLVKA WEEVGPQIWY FFDNSTQMNM IRDTLGNPTV KDFLNRQLGE EGITAEAILN FLYKGPRESQ ADDMANFDWR DIFNITDRTL RLVNQYLECL VLDKFESYND ETQLTQRALS LLEENMFWAG VVFPDMYPWT SSLPPHVKYK IRMDIDVVEK TNKIKDRYWD SGPRADPVED FRYIWGGFAY LQDMVEQGIT RSQVQAEAPV GIYLQQMPYP CFVDDSFMII LNRCFPIFMV LAWIYSVSMT VKSIVLEKEL RLKETLKNQG VSNAVIWCTW FLDSFSIMSM SIFLLTIFIM HGRILHYSDP FILFLFLLAF STATIMLCFL LSTFFSKASL AAACSGVIYF TLYLPHILCF AWQDRMTAEL KKAVSLLSPV AFGFGTEYLV RFEEQGLGLQ WSNIGNSPTE GDEFSFLLSM QMMLLDAAVY GLLAWYLDQV FPGDYGTPLP WYFLLQESYW LGGEGCSTRE ERALEKTEPL TEETEDPEHP EGIHDSFFER EHPGWVPGVC VKNLVKIFEP CGRPAVDRLN ITFYENQITA FLGHNGAGKT TTLSILTGLL PPTSGTVLVG GRDIETSLDA VRQSLGMCPQ HNILFHHLTV AEHMLFYAQL KGKSQEEAQL EMEAMLEDTG LHHKRNEEAQ DLSGGMQRKL SVAIAFVGDA KVVILDEPTS GVDPYSRRSI WDLLLKYRSG RTIIMSTHHM DEADLLGDRI AIIAQGRLYC SGTPLFLKNC FGTGLYLTLV RKMKNIQSQR KGSEGTCSCS SKGFSTTCPA HVDDLTPEQV LDGDVNELMD VVLHHVPEAK LVECIGQELI FLLPNKNFKH RAYASLFREL EETLADLGLS SFGISDTPLE EIFLKVTEDS DSGPLFAGGA QQKRENVNPR HPCLGPREKA GQTPQDSNVC SPGAPAAHPE GQPPPEPECP GPQLNTGTQL VLQHVQALLV KRFQHTIRSH KDFLAQIVLP ATFVFLALML SIVIPPFGEY PALTLHPWIY GQQYTFFSMD EPGSEQFTVL ADVLLNKPGF GNRCLKEGWL PEYPCGNSTP WKTPSVSPNI TQLFQKQKWT QVNPSPSCRC STREKLTMLP ECPEGAGGLP PPQRTQRSTE ILQDLTDRNI SDFLVKTYPA LIRSSLKSKF WVNEQRYGGI SIGGKLPVVP ITGEALVGFL SDLGRIMNVS GGPITREASK EIPDFLKHLE TEDNIKVWFN NKGWHALVSF LNVAHNAILR ASLPKDRSPE EYGITVISQP LNLTKEQLSE ITVLTTSVDA VVAICVIFSM SFVPASFVLY LIQERVNKSK HLQFISGVSP TTYWVTNFLW DIMNYSVSAG LVVGIFIGFQ KKAYTSPENL PALVALLLLY GWAVIPMMYP ASFLFDVPST AYVALSCANL FIGINSSAIT FILELFENNR TLLRFNAVLR KLLIVFPHFC LGRGLIDLAL SQAVTDVYAR FGEEHSANPF HWDLIGKNLF AMVVEGVVYF LLTLLVQRHF FLSQWIAEPT KEPIVDEDDD VAEERQRIIT GGNKTDILRL HELTKIYPGT SSPAVDRLCV GVRPGECFGL LGVNGAGKTT TFKMLTGDTT VTSGDATVAG KSILTNISEV HQNMGYCPQF DAIDELLTGR EHLYLYARLR GVPAEEIEKV ANWSIKSLGL TVYADCLAGT YSGGNKRKLS TAIALIGCPP LVLLDEPTTG MDPQARRMLW NVIVSIIREG RAVVLTSHSM EECEALCTRL AIMVKGAFRC MGTIQHLKSK FGDGYIVTMK IKSPKDDLLP DLNPVEQFFQ GNFPGSVQRE RHYNMLQFQV SSSSLARIFQ LLLSHKDSLL IEEYSVTQTT LDQVFVNFAK QQTESHDLPL HPRAAGASRQ AQD
Genular Protein ID: 3351597407
Symbol: Q6AI28_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 1065
- Mass: 118112
- Checksum: F6386682A8164E68
- Sequence:
MDVVLHHVPE AKLVECIGQE LIFLLPNKNF KHRAYASLFR ELEETLADLG LSSFGISDTP LEEIFLKVTE DSDSGPLFAG GAQQKRENVN PRHPCLGPRE KAGQTPQDSN VCSPGAPAAH PEGQPPPEPE CPGPQLNTGT QLVLQHVQAL LVKRFQHTIR SHKDFLAQIV LPATFVFLAL MLSIVIPPFG EYPALTLHPW IYGQQYTFFS MDEPGSEQFT VLADVLLNKP GFGNRCLKEG WLPEYPCGNS TPWKTPSVSP NITQLFQKQK WTQVNPSPSC RCSTREKLTM LPECPEGAGG LPPPQRTQRS TEILQDLTDR NISDFLVKTY PALIRSSLKS KFWVNEQRYG GISIGGKLPV VPITGEALVG FLSDLGRIMN VSGGPITREA SKEIPDFLKH LETEDNIKVW FNNKGWHALV SFLNVAHNAI LRASLPKDRS PEEYGITVIS QPLNLTKEQL SEITVLTTSV DAVVAICVIF SMSFVPASFV LYLIQERVNK SKHLQFISGV SPTTYWVTNF LWDIMNYSVS AGLVVGIFIG FQKKAYTSPE NLPALVALLL LYGWAVIPMM YPASFLFDVP STAYVALSCA NLFIGINSSA ITFILELFEN NRTLLRFNAV LRKLLIVFPH FCLGRGLIDL ALSQAVTDVY ARFGEEHSAN PFHWDLIGKN LFAMVVEGVV YFLLTLLVQR HFFLSQWIAE PTKEPIVDED DDVAEERQRI ITGGNKTDIL RLHELTKIYP GTSSPAVDRL CVGVRPGECF GLLGVSGAGK TTTFKMLTGD TTVTSGDATV AGKSILTNIS EVHQNMGYCP QFDAIDELLT GREHLYLYAR LRGVPAEEIE KVANWSIKSL GLTVYADCLA GTYSGGNKRK LSTAIALIGC PPLVLLDEPT TGMDPQARRM LWNVIVSIIR EGRAVVLTSH SMEECEALCT RLAIMVKGAF RCMGTIQHLK SKFGDGYIVT MKIKSPKDDL LPDLNPVEQF FQGNFPGSVQ RERHYNMLQF QVSSSSLARI FQLLLSHKDS LLIEEYSVTQ TTLDQVFVNF AKQQTESHDL PLHPRAAGAS RQAQD
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.