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ABCA4

GENERAL INFORMATION

Gene name

 ABCA4

Gene description

 ATP-binding cassette, sub-family A (ABC1), member 4

Protein class

 Disease related genes
Plasma proteins
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localization

 Membrane

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Tissue enhanced (lung cancer)
HPA (cell line):Cell line enhanced (BEWO, EFO-21)
HPA (normal tissue):Tissue enhanced (epididymis)

Protein evidence

 Evidence at protein level

ANTIBODY IHC RELIABILITY

Reliability score

 Pending cancer tissue analysis.

PROGNOSTIC SUMMARY
Prognostic marker in lung cancer (favourable) and urothelial cancer (unfavourable).
Lung cancer p<0.001
Urothelial cancer p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Tissue enhanced (lung cancer)

PROTEIN EXPRESSION

Pending cancer tissue analysis

STAINING SUMMARY

 

GENE INFORMATION

Gene name

 ABCA4 (HGNC Symbol)

Synonyms

 ABCA4, ABCR , ARMD2, CORD3, FFM, RP19, STGD, STGD1

Description

 ATP-binding cassette, sub-family A (ABC1), member 4 (HGNC Symbol)

Entrez gene 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 is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq, Jul 2008]

Chromosome

 1

Cytoband

 p22.1

Chromosome location (bp)

 93992835 - 94121132

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000198691 (version 83.38)

Entrez gene

 24

UniProt

 P78363 (UniProt - Evidence at protein level)

neXtProt

 NX_P78363

Antibodypedia

 ABCA4 antibodies

PROTEIN BROWSER
ABCA4-001
ABCA4-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ABCA4-001
ENSP00000359245
ENST00000370225
P78363 [Direct mapping]
Retinal-specific ATP-binding cassette transporter
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Transporters
   Primary Active Transporters
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
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GO:0001523 [retinoid metabolic process]
GO:0001750 [photoreceptor outer segment]
GO:0004012 [phospholipid-translocating ATPase activity]
GO:0005215 [transporter activity]
GO:0005524 [ATP binding]
GO:0005548 [phospholipid transporter activity]
GO:0005887 [integral component of plasma membrane]
GO:0006649 [phospholipid transfer to membrane]
GO:0006810 [transport]
GO:0007601 [visual perception]
GO:0007603 [phototransduction, visible light]
GO:0016020 [membrane]
GO:0016887 [ATPase activity]
GO:0017127 [cholesterol transporter activity]
GO:0033344 [cholesterol efflux]
GO:0033700 [phospholipid efflux]
GO:0042626 [ATPase activity, coupled to transmembrane movement of substances]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0045332 [phospholipid translocation]
GO:0045494 [photoreceptor cell maintenance]
GO:0055085 [transmembrane transport]
GO:0097381 [photoreceptor disc membrane]
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 2273 aa
255.9 kDa 		No >9
ABCA4-201
ENSP00000439707
ENST00000536513
F6TT59 [Direct mapping]
Retinal-specific ATP-binding cassette transporter
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Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   8TM proteins predicted by MDM
Show all
GO:0005524 [ATP binding]
GO:0005548 [phospholipid transporter activity]
GO:0005887 [integral component of plasma membrane]
GO:0007601 [visual perception]
GO:0008152 [metabolic process]
GO:0016887 [ATPase activity]
GO:0017127 [cholesterol transporter activity]
GO:0033344 [cholesterol efflux]
GO:0033700 [phospholipid efflux]
GO:0042626 [ATPase activity, coupled to transmembrane movement of substances]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0055085 [transmembrane transport]
Show all
 1065 aa
118.1 kDa 		No 8

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.