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HUMAN:ABCA4

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) ABCA4 (synonyms: ABCR)
Protein Name(s) Retinal-specific ATP-binding cassette transporter

ATP-binding cassette sub-family A member 4 RIM ABC transporter RIM protein RmP Stargardt disease protein

External Links
UniProt P78363
EMBL U88667
AF000148
Y15635
Y15636
Y15637
Y15638
Y15639
Y15640
Y15641
Y15642
Y15643
Y15644
Y15645
Y15646
Y15647
Y15648
Y15649
Y15650
Y15651
Y15652
Y15653
Y15654
Y15655
Y15656
Y15657
Y15658
Y15659
Y15660
Y15661
Y15662
Y15663
Y15664
Y15665
Y15666
Y15667
Y15668
Y15669
Y15670
Y15671
Y15672
Y15673
Y15674
Y15675
Y15676
Y15677
Y15678
Y15679
Y15680
Y15681
Y15682
Y15683
Y15684
AF001945
AB210040
AC093579
AC105278
DQ426859
CCDS CCDS747.1
RefSeq NP_000341.2
UniGene Hs.416707
ProteinModelPortal P78363
BioGrid 106542
STRING 9606.ENSP00000359245
TCDB 3.A.1.211.2
PhosphoSite P78363
DMDM 6707663
PaxDb P78363
PRIDE P78363
DNASU 24
Ensembl ENST00000370225
GeneID 24
KEGG hsa:24
UCSC uc001dqh.3
CTD 24
GeneCards GC01M094458
GeneReviews ABCA4
H-InvDB HIX0028510
HGNC HGNC:34
MIM 153800
248200
601691
601718
604116
neXtProt NX_P78363
Orphanet 279
1872
791
827
PharmGKB PA24379
eggNOG COG1131
GeneTree ENSGT00760000118965
HOGENOM HOG000231547
HOVERGEN HBG050436
InParanoid P78363
KO K05644
OMA IMVKGAF
OrthoDB EOG78D7J6
PhylomeDB P78363
TreeFam TF105191
Reactome REACT_15480
REACT_160156
ChiTaRS ABCA4
GeneWiki ABCA4
GenomeRNAi 24
NextBio 75
PRO PR:P78363
Proteomes UP000005640
Bgee P78363
CleanEx HS_ABCA4
ExpressionAtlas P78363
Genevestigator P78363
GO GO:0005887
GO:0016020
GO:0097381
GO:0005524
GO:0042626
GO:0004012
GO:0005215
GO:0006649
GO:0045494
GO:0007603
GO:0001523
GO:0055085
GO:0006810
GO:0007601
Gene3D 3.40.50.300
InterPro IPR003593
IPR026082
IPR003439
IPR017871
IPR005951
IPR027417
PANTHER PTHR19229
PTHR19229:SF97
Pfam PF00005
SMART SM00382
SUPFAM SSF52540
TIGRFAMs TIGR01257
PROSITE PS00211
PS50893

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status

enables

GO:0016887

ATPase activity

PMID:24097981[1]

ECO:0000314

direct assay evidence used in manual assertion

F

activated_by:(CHEBI:60568)|activated_by:(CHEBI:17517)|activated_by:(CHEBI:64583)|activated_by:(CHEBI:74986)|inhibited_by(CHEBI:28874)|inhibited_by(CHEBI:16113)|inhibited_by(CHEBI:17761)

Seeded From UniProt

complete

involved_in

GO:0045332

phospholipid translocation

PMID:24097981[1]

ECO:0000314

direct assay evidence used in manual assertion

P

transports_or_maintains_localization_of:(CHEBI:16038)

Seeded From UniProt

complete

enables

GO:0090555

phosphatidylethanolamine-translocating ATPase activity

PMID:24097981[1]

ECO:0000314

direct assay evidence used in manual assertion

F

inhibited_by:(CHEBI:16113)|part_of(GO:0045332)

Seeded From UniProt

complete

part_of

GO:0043231

intracellular membrane-bounded organelle

PMID:21873635[2]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:99607
PANTHER:PTN000442469

C

Seeded From UniProt

complete

enables

GO:0042626

ATPase activity, coupled to transmembrane movement of substances

PMID:21873635[2]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN000442469
RGD:631344
UniProtKB:O94911

F

Seeded From UniProt

complete

involved_in

GO:0006869

lipid transport

PMID:21873635[2]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN000442469
UniProtKB:Q86UK0

P

Seeded From UniProt

complete

enables

GO:0005548

phospholipid transporter activity

PMID:21873635[2]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:109424
PANTHER:PTN002710147
UniProtKB:P78363

F

Seeded From UniProt

complete

enables

GO:0005319

lipid transporter activity

PMID:21873635[2]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:109424
MGI:MGI:1351646
MGI:MGI:99607
PANTHER:PTN000442469
UniProtKB:O95477
UniProtKB:P78363
UniProtKB:Q86UK0
UniProtKB:Q8IZY2

F

Seeded From UniProt

complete

enables

GO:0004012

phospholipid-translocating ATPase activity

PMID:21873635[2]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:109424
PANTHER:PTN002710147
UniProtKB:P78363

F

Seeded From UniProt

complete

involved_in

GO:0045494

photoreceptor cell maintenance

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35600
ensembl:ENSMUSP00000013995

P

Seeded From UniProt

complete

involved_in

GO:0007601

visual perception

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35600
ensembl:ENSMUSP00000013995

P

Seeded From UniProt

complete

involved_in

GO:0006649

phospholipid transfer to membrane

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35600
ensembl:ENSMUSP00000013995

P

Seeded From UniProt

complete

enables

GO:0005548

phospholipid transporter activity

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35600
ensembl:ENSMUSP00000013995

F

Seeded From UniProt

complete

enables

GO:0004012

phospholipid-translocating ATPase activity

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35600
ensembl:ENSMUSP00000013995

F

Seeded From UniProt

complete

part_of

GO:0001750

photoreceptor outer segment

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35600
ensembl:ENSMUSP00000013995

C

Seeded From UniProt

complete

enables

GO:0005524

ATP binding

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR003439
InterPro:IPR005951
InterPro:IPR017871

F

Seeded From UniProt

complete

part_of

GO:0005887

integral component of plasma membrane

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR005951

C

Seeded From UniProt

complete

involved_in

GO:0006869

lipid transport

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR005951

P

Seeded From UniProt

complete

involved_in

GO:0007601

visual perception

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR005951

P

Seeded From UniProt

complete

part_of

GO:0016021

integral component of membrane

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR026082

C

Seeded From UniProt

complete

enables

GO:0016887

ATPase activity

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR003439
InterPro:IPR017871

F

Seeded From UniProt

complete

enables

GO:0042626

ATPase activity, coupled to transmembrane movement of substances

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR005951
InterPro:IPR026082

F

Seeded From UniProt

complete

involved_in

GO:0055085

transmembrane transport

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR026082

P

Seeded From UniProt

complete

enables

GO:0042626

ATPase activity, coupled to transmembrane movement of substances

PMID:9054934[3]

ECO:0000304

author statement supported by traceable reference used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0016020

membrane

PMID:9054934[3]

ECO:0000304

author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0007603

phototransduction, visible light

PMID:9202155[4]

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0007601

visual perception

PMID:9425888[5]

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0005524

ATP binding

PMID:9054934[3]

ECO:0000304

author statement supported by traceable reference used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0005215

transporter activity

PMID:9054934[3]

ECO:0000304

author statement supported by traceable reference used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0097381

photoreceptor disc membrane

Reactome:R-HSA-1467466

ECO:0000304

author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0055085

transmembrane transport

Reactome:R-HSA-382556

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0005395

eye pigment precursor transporter activity

Reactome:R-HSA-1467466

ECO:0000304

author statement supported by traceable reference used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0001523

retinoid metabolic process

Reactome:R-HSA-2453902

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0007601

visual perception

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0844

P

Seeded From UniProt

complete

part_of

GO:0016021

integral component of membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0812

C

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0472
UniProtKB-SubCell:SL-0162

C

Seeded From UniProt

complete

involved_in

GO:0050896

response to stimulus

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0716

P

Seeded From UniProt

complete

enables

GO:0000166

nucleotide binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0547

F

Seeded From UniProt

complete

enables

GO:0005524

ATP binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0067

F

Seeded From UniProt

complete

edit table

Notes

References

See Help:References for how to manage references in GONUTS.

  1. ↑ 1.0 1.1 1.2 Quazi, F & Molday, RS (2013) Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants. J. Biol. Chem. 288 34414-26 PubMed GONUTS page
  2. ↑ 2.0 2.1 2.2 2.3 2.4 2.5 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
  3. ↑ 3.0 3.1 3.2 3.3 Allikmets, R et al. (1997) A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat. Genet. 15 236-46 PubMed GONUTS page
  4. ↑ Azarian, SM & Travis, GH (1997) The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR). FEBS Lett. 409 247-52 PubMed GONUTS page
  5. ↑ Martínez-Mir, A et al. (1998) Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nat. Genet. 18 11-2 PubMed GONUTS page
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