TISIDB

Summary
Symbol	ABCA4
Name	ATP-binding cassette, sub-family A (ABC1), member 4
Aliases	FFM; ARMD2; CORD3; Stargardt disease; STGD1; ABCR; RP19; STGD; ATP-binding cassette transporter, retinal-spe ......
Chromosomal Location	1p22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Basic function annotation. > Subcellular Location, Domain and Function > Gene Ontology > KEGG and Reactome Pathway

> Subcellular Location, Domain and Function [ TOP ]
Subcellular Location	Membrane Multi-pass membrane protein Note=Localized to outer segment disk edges of rods and cones, with around one million copies/photoreceptor.
Domain	PF00005 ABC transporter
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.

> Gene Ontology [ TOP ]
Biological Process	GO:0001523 retinoid metabolic process GO:0001894 tissue homeostasis GO:0001895 retina homeostasis GO:0006649 phospholipid transfer to membrane GO:0006720 isoprenoid metabolic process GO:0006721 terpenoid metabolic process GO:0006869 lipid transport GO:0007601 visual perception GO:0007602 phototransduction GO:0007603 phototransduction, visible light GO:0009314 response to radiation GO:0009416 response to light stimulus GO:0009581 detection of external stimulus GO:0009582 detection of abiotic stimulus GO:0009583 detection of light stimulus GO:0009584 detection of visible light GO:0010876 lipid localization GO:0015748 organophosphate ester transport GO:0015914 phospholipid transport GO:0016101 diterpenoid metabolic process GO:0034204 lipid translocation GO:0045332 phospholipid translocation GO:0045494 photoreceptor cell maintenance GO:0048871 multicellular organismal homeostasis GO:0050953 sensory perception of light stimulus GO:0060249 anatomical structure homeostasis GO:0097035 regulation of membrane lipid distribution
Molecular Function	GO:0004012 phospholipid-translocating ATPase activity GO:0005319 lipid transporter activity GO:0005395 eye pigment precursor transporter activity GO:0005548 phospholipid transporter activity GO:0015399 primary active transmembrane transporter activity GO:0015405 P-P-bond-hydrolysis-driven transmembrane transporter activity GO:0016820 hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances GO:0016887 ATPase activity GO:0022804 active transmembrane transporter activity GO:0042623 ATPase activity, coupled GO:0042626 ATPase activity, coupled to transmembrane movement of substances GO:0043492 ATPase activity, coupled to movement of substances GO:0090555 phosphatidylethanolamine-translocating ATPase activity GO:1904121 phosphatidylethanolamine transporter activity
Cellular Component	GO:0001750 photoreceptor outer segment GO:0005929 cilium GO:0031253 cell projection membrane GO:0031513 nonmotile primary cilium GO:0044441 ciliary part GO:0060170 ciliary membrane GO:0072372 primary cilium GO:0097381 photoreceptor disc membrane

> KEGG and Reactome Pathway [ TOP ]
KEGG	hsa02010 ABC transporters
Reactome	R-HSA-382556: ABC-family proteins mediated transport R-HSA-162582: Signal Transduction R-HSA-2453902: The canonical retinoid cycle in rods (twilight vision) R-HSA-382551: Transmembrane transport of small molecules R-HSA-2187338: Visual phototransduction

Summary
Symbol	ABCA4
Name	ATP-binding cassette, sub-family A (ABC1), member 4
Aliases	FFM; ARMD2; CORD3; Stargardt disease; STGD1; ABCR; RP19; STGD; ATP-binding cassette transporter, retinal-spe ......
Chromosomal Location	1p22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Literatures that report relations between ABCA4 and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells.

> Text Mining [ TOP ]
There is no record.

Summary
Symbol	ABCA4
Name	ATP-binding cassette, sub-family A (ABC1), member 4
Aliases	FFM; ARMD2; CORD3; Stargardt disease; STGD1; ABCR; RP19; STGD; ATP-binding cassette transporter, retinal-spe ......
Chromosomal Location	1p22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets.

> High-throughput Screening

[ TOP ]

Statistical results of ABCA4 in screening data sets for detecting immune reponses.

PMID	Screening System	Cancer Type	Cell Line	Data Set	Statistical Results	Relation to immunity
29301958	CRISPR-Cas9	melanoma	B16F10	Pmel-1 T cell	NA/NS	NA/NS
29301958	CRISPR-Cas9	melanoma	B16F10	OT-1 T cell	NA/NS	NA/NS
28783722	CRISPR-Cas9	melanoma	Mel624	2CT-CRISPR	NA/NS	NA/NS
28723893	CRISPR-Cas9	melanoma	B16	GVAX+Anti-PD1	NA/NS	NA/NS
28723893	CRISPR-Cas9	melanoma	B16	GVAX	NA/NS	NA/NS
25691366	RNAi	Breast cancer	MCF7	Luc-CTL assay	NA/NS	NA/NS
24476824	shRNA	melanoma	B16	Primary screen	NA/NS	NA/NS
24476824	shRNA	melanoma	B16	Secondary screen	NA/NS	NA/NS

Summary
Symbol	ABCA4
Name	ATP-binding cassette, sub-family A (ABC1), member 4
Aliases	FFM; ARMD2; CORD3; Stargardt disease; STGD1; ABCR; RP19; STGD; ATP-binding cassette transporter, retinal-spe ......
Chromosomal Location	1p22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets. > Expression difference between responders and non-responders > Mutation difference between responders and non-responders

> Expression difference between responders and non-responders

[ TOP ]

Points in the above scatter plot represent the expression difference of ABCA4 in various data sets.

No	PMID	Cancer type	Group	Drug	# Res	# NRes	Log2 (Fold Change)	P value
1	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	14	12	0	1
2	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	6	5	0	1
3	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	7	0	1
4	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	-0.656	0.219
5	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	-1.339	0.42
6	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	0.197	0.915
7	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	26	23	0.1	0.876
8	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	15	11	0.351	0.723
9	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	11	12	-0.041	0.971
10	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	4	8	0.662	0.166
11	29301960	Clear cell renal cell carcinoma (ccRCC)	VEGFRi	Anti-PD-1 (nivolumab)	2	0	0	1
12	29301960	Clear cell renal cell carcinoma (ccRCC)	non-VEGFRi	Anti-PD-1 (nivolumab)	2	8	1.43	0.0267
13	29443960	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	68	230	-0.222	0.37

> Mutation difference between responders and non-responders

[ TOP ]

Points in the above scatter plot represent the mutation difference of ABCA4 in various data sets.

No	PMID	Cancer type	Group	Drug	# Res	# NRes	% Mut/Res	% Mut/NRes	% Diff (R vs NR)	Pval
1	25765070	Non-small cell lung cancer (NSCLC)	all	Anti-PD-1 (pembrolizumab)	14	17	14.3	0	14.3	0.196
2	25765070	Non-small cell lung cancer (NSCLC)	smoking	Anti-PD-1 (pembrolizumab)	10	3	20	0	20	1
3	25765070	Non-small cell lung cancer (NSCLC)	non-smoking	Anti-PD-1 (pembrolizumab)	4	14	0	0	0	1
4	26359337	Melanoma	all	Anti-CTLA-4 (ipilimumab)	27	73	25.9	4.1	21.8	0.00355
5	26359337	Melanoma	BRAFi	Anti-CTLA-4 (ipilimumab)	0	14	0	0	0	1
6	26359337	Melanoma	non-BRAFi	Anti-CTLA-4 (ipilimumab)	27	59	25.9	5.1	20.8	0.00931
7	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	21	17	9.5	29.4	-19.9	0.207
8	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	6	0	33.3	-33.3	0.165
9	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	13	11	15.4	27.3	-11.9	0.63
10	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	11.1	12.5	-1.4	1
11	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	0	22.2	-22.2	0.505
12	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	25	0	25	0.364
13	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	38	27	7.9	7.4	0.5	1
14	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	22	13	13.6	0	13.6	0.279
15	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	16	14	0	14.3	-14.3	0.209
16	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	11	13	0	0	0	1
17	29301960	Clear cell renal cell carcinoma (ccRCC)	VEGFRi	Anti-PD-1 (nivolumab)	6	1	0	0	0	1
18	29301960	Clear cell renal cell carcinoma (ccRCC)	non-VEGFRi	Anti-PD-1 (nivolumab)	5	12	0	0	0	1

Summary
Symbol	ABCA4
Name	ATP-binding cassette, sub-family A (ABC1), member 4
Aliases	FFM; ARMD2; CORD3; Stargardt disease; STGD1; ABCR; RP19; STGD; ATP-binding cassette transporter, retinal-spe ......
Chromosomal Location	1p22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of ABCA4. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene.

> Lymphocyte [ TOP ]

Summary
Symbol	ABCA4
Name	ATP-binding cassette, sub-family A (ABC1), member 4
Aliases	FFM; ARMD2; CORD3; Stargardt disease; STGD1; ABCR; RP19; STGD; ATP-binding cassette transporter, retinal-spe ......
Chromosomal Location	1p22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of ABCA4. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by ABCA4. > Immunoinhibitor > Immunostimulator > MHC molecule

> Immunoinhibitor [ TOP ]

> Immunostimulator [ TOP ]

> MHC molecule [ TOP ]

Summary
Symbol	ABCA4
Name	ATP-binding cassette, sub-family A (ABC1), member 4
Aliases	FFM; ARMD2; CORD3; Stargardt disease; STGD1; ABCR; RP19; STGD; ATP-binding cassette transporter, retinal-spe ......
Chromosomal Location	1p22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of ABCA4. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene. > Chemokine > Receptor

> Chemokine [ TOP ]

> Receptor [ TOP ]

Summary
Symbol	ABCA4
Name	ATP-binding cassette, sub-family A (ABC1), member 4
Aliases	FFM; ARMD2; CORD3; Stargardt disease; STGD1; ABCR; RP19; STGD; ATP-binding cassette transporter, retinal-spe ......
Chromosomal Location	1p22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Distribution of ABCA4 expression across immune and molecular subtypes. > Immune subtype > Molecular subtype

> Immune subtype [ TOP ]

> Molecular subtype [ TOP ]

Summary
Symbol	ABCA4
Name	ATP-binding cassette, sub-family A (ABC1), member 4
Aliases	FFM; ARMD2; CORD3; Stargardt disease; STGD1; ABCR; RP19; STGD; ATP-binding cassette transporter, retinal-spe ......
Chromosomal Location	1p22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Associations between ABCA4 and clinical features. > Overall survival analysis > Cancer stage > Tumor grade

> Overall survival [ TOP ]

> Stage [ TOP ]

> Grade [ TOP ]

Summary
Symbol	ABCA4
Name	ATP-binding cassette, sub-family A (ABC1), member 4
Aliases	FFM; ARMD2; CORD3; Stargardt disease; STGD1; ABCR; RP19; STGD; ATP-binding cassette transporter, retinal-spe ......
Chromosomal Location	1p22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Drugs targeting ABCA4 collected from DrugBank database.

> Drugs from DrugBank database [ TOP ]
There is no record.

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