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Aliases for ABCA5 Gene

Aliases for ABCA5 Gene

  • ATP Binding Cassette Subfamily A Member 5 2 3 5
  • ATP-Binding Cassette, Sub-Family A (ABC1), Member 5 2 3
  • ATP-Binding Cassette Sub-Family A Member 5 3
  • ATP-Binding Cassette A5 3
  • EC 58
  • EC 58
  • EST90625 3
  • KIAA1888 4
  • EC 3.6.3 58
  • ABC13 3

External Ids for ABCA5 Gene

Previous GeneCards Identifiers for ABCA5 Gene

  • GC17M067042
  • GC17M070203
  • GC17M067707
  • GC17M067839
  • GC17M064754
  • GC17M067240
  • GC17M062625

Summaries for ABCA5 Gene

Entrez Gene Summary for ABCA5 Gene

  • 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, and White). This encoded 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 gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]

GeneCards Summary for ABCA5 Gene

ABCA5 (ATP Binding Cassette Subfamily A Member 5) is a Protein Coding gene. Diseases associated with ABCA5 include Hypertrichosis, Congenital Generalized, With Or Without Gingival Hyperplasia. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include GTP binding and ATPase activity. An important paralog of this gene is ABCA8.

UniProtKB/Swiss-Prot for ABCA5 Gene

  • May play a role in the processing of autolysosomes.

Additional gene information for ABCA5 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCA5 Gene

Genomics for ABCA5 Gene

Regulatory Elements for ABCA5 Gene

Enhancers for ABCA5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H069429 1.1 Ensembl ENCODE dbSUPER 14.5 -103.2 -103206 1.5 JUND POLR2A POU5F1 FOS ZNF645 ZBTB20 ABCA5 ENSG00000278972 MAP2K6
GH17H069325 1.1 ENCODE 9 +0.5 512 2.6 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B SLC30A9 ABCA5 GC17P069319
GH17H069390 0.8 ENCODE 11.4 -63.9 -63865 1.1 SOX13 FOXA2 SAP130 CEBPG DMAP1 HOMEZ THAP11 GATAD2A SOX5 NFIA ABCA5 GC17M069385 GC17M069378
GH17H069394 0.8 ENCODE 11.2 -67.7 -67651 0.2 TBP CTCF FOXA2 SAP130 ZNF2 RAD21 TEAD3 SMC3 ZNF143 RCOR1 ABCA5 GC17M069385 GC17M069378
GH17H069348 0.6 ENCODE 12 -21.4 -21431 0.2 SREBF1 GATA3 ZSCAN4 USF2 CEBPB SETDB1 ABCA5 ENSG00000252352 LOC105371878
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABCA5 on UCSC Golden Path with GeneCards custom track

Promoters for ABCA5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Locations for ABCA5 Gene

Genomic Locations for ABCA5 Gene
82,934 bases
Minus strand

Genomic View for ABCA5 Gene

Genes around ABCA5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCA5 Gene

Proteins for ABCA5 Gene

  • Protein details for ABCA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    ATP-binding cassette sub-family A member 5
    Protein Accession:
    Secondary Accessions:
    • Q8IVJ2
    • Q96LJ1
    • Q96MS4
    • Q96PZ9
    • Q9NY14

    Protein attributes for ABCA5 Gene

    1642 amino acids
    Molecular mass:
    186508 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAB71700.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ABCA5 Gene


neXtProt entry for ABCA5 Gene

Selected DME Specific Peptides for ABCA5 Gene


Post-translational modifications for ABCA5 Gene

Domains & Families for ABCA5 Gene

Gene Families for ABCA5 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for ABCA5 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ABC transporter superfamily. ABCA family.
  • Belongs to the ABC transporter superfamily. ABCA family.
genes like me logo Genes that share domains with ABCA5: view

Function for ABCA5 Gene

Molecular function for ABCA5 Gene

GENATLAS Biochemistry:
ATP binding cassette superfamily,subfamily A,member 5,mouse ABC4 homolog
UniProtKB/Swiss-Prot Function:
May play a role in the processing of autolysosomes.

Enzyme Numbers (IUBMB) for ABCA5 Gene

Phenotypes From GWAS Catalog for ABCA5 Gene

Gene Ontology (GO) - Molecular Function for ABCA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005215 transporter activity IEA --
GO:0005319 lipid transporter activity TAS --
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity IEA --
genes like me logo Genes that share ontologies with ABCA5: view
genes like me logo Genes that share phenotypes with ABCA5: view

Human Phenotype Ontology for ABCA5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ABCA5 Gene

MGI Knock Outs for ABCA5:

Animal Model Products

miRNA for ABCA5 Gene

miRTarBase miRNAs that target ABCA5

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for ABCA5 Gene

Localization for ABCA5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCA5 Gene

Lysosome membrane; Multi-pass membrane protein. Late endosome membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCA5 gene
Compartment Confidence
lysosome 4
plasma membrane 3
golgi apparatus 3
endosome 3

Gene Ontology (GO) - Cellular Components for ABCA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005764 lysosome ISS 15870284
GO:0005765 lysosomal membrane TAS --
GO:0005768 endosome IEA --
GO:0005770 late endosome ISS 15870284
genes like me logo Genes that share ontologies with ABCA5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ABCA5 Gene

Pathways & Interactions for ABCA5 Gene

genes like me logo Genes that share pathways with ABCA5: view

Pathways by source for ABCA5 Gene

Interacting Proteins for ABCA5 Gene

Gene Ontology (GO) - Biological Process for ABCA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006869 lipid transport IBA --
GO:0010745 negative regulation of macrophage derived foam cell differentiation ISS 20382126
GO:0033344 cholesterol efflux ISS 20382126
GO:0034375 high-density lipoprotein particle remodeling ISS 20382126
genes like me logo Genes that share ontologies with ABCA5: view

No data available for SIGNOR curated interactions for ABCA5 Gene

Drugs & Compounds for ABCA5 Gene

(2) Drugs for ABCA5 Gene - From: DrugBank and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tacrolimus Approved, Investigational Pharma Transporter, substrate 1125
LIM-0705 Pharma 0
genes like me logo Genes that share compounds with ABCA5: view

Transcripts for ABCA5 Gene

Unigene Clusters for ABCA5 Gene

ATP-binding cassette, sub-family A (ABC1), member 5:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABCA5 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^
SP2: -
SP5: - -

ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41a · 41b
SP1: -

Relevant External Links for ABCA5 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ABCA5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ABCA5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ABCA5 Gene

This gene is overexpressed in Muscle - Skeletal (x5.5).

Protein differential expression in normal tissues from HIPED for ABCA5 Gene

This gene is overexpressed in Cerebrospinal fluid (45.1), Heart (8.1), and Testis (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ABCA5 Gene

NURSA nuclear receptor signaling pathways regulating expression of ABCA5 Gene:


SOURCE GeneReport for Unigene cluster for ABCA5 Gene:


mRNA Expression by UniProt/SwissProt for ABCA5 Gene:

Tissue specificity: Ubiquitously expressed. Highly expressed in testis, skeletal muscle, kidney, liver and placenta.

Evidence on tissue expression from TISSUES for ABCA5 Gene

  • Nervous system(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCA5 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • digestive
  • integumentary
  • nervous
  • skeleton
Head and neck:
  • brain
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
  • hair
  • skin
genes like me logo Genes that share expression patterns with ABCA5: view

No data available for Protein tissue co-expression partners for ABCA5 Gene

Orthologs for ABCA5 Gene

This gene was present in the common ancestor of animals.

Orthologs for ABCA5 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ABCA5 33 34
  • 99.53 (n)
(Canis familiaris)
Mammalia ABCA5 33 34
  • 92.73 (n)
(Mus musculus)
Mammalia Abca5 33 16 34
  • 86.58 (n)
(Rattus norvegicus)
Mammalia Abca5 33
  • 86.22 (n)
(Bos Taurus)
Mammalia ABCA5 33 34
  • 85.74 (n)
(Ornithorhynchus anatinus)
Mammalia ABCA5 34
  • 85 (a)
(Monodelphis domestica)
Mammalia ABCA5 34
  • 83 (a)
(Gallus gallus)
Aves ABCA5 33 34
  • 68.38 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 71 (a)
-- 34
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia abca5 33
  • 62.22 (n)
(Danio rerio)
Actinopterygii abca5 33 34
  • 57.49 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010416 33
  • 39.79 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9990 34
  • 17 (a)
(Caenorhabditis elegans)
Secernentea abt-5 34
  • 21 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2481 33
Species where no ortholog for ABCA5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABCA5 Gene

Gene Tree for ABCA5 (if available)
Gene Tree for ABCA5 (if available)

Paralogs for ABCA5 Gene

Variants for ABCA5 Gene

Sequence variations from dbSNP and Humsavar for ABCA5 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs199753304 Pathogenic 69,253,793(+) AAGTA(A/C/G/T)CTTTC splice-donor-variant
rs1000040025 -- 69,312,433(+) AGAGT(A/T)AGGGA intron-variant
rs1000114857 -- 69,275,791(+) ACTTC(A/G)GAAAG intron-variant
rs1000125531 -- 69,325,303(+) GACCC(G/T)GTCTC intron-variant
rs1000154388 -- 69,312,693(+) GATCC(A/C)CCCAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ABCA5 Gene

Variant ID Type Subtype PubMed ID
nsv962365 CNV duplication 23825009
nsv833527 CNV gain+loss 17160897
nsv575937 CNV loss 21841781
nsv575934 CNV loss 21841781
nsv575932 CNV loss 21841781
nsv457890 CNV loss 19166990
nsv1063768 CNV loss 25217958
nsv1055156 CNV loss 25217958
esv3641127 CNV gain 21293372
esv3641126 CNV gain 21293372
esv3582892 CNV loss 25503493
esv275054 CNV loss 21479260
dgv5758n54 CNV loss 21841781

Variation tolerance for ABCA5 Gene

Residual Variation Intolerance Score: 87.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.51; 91.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABCA5 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCA5 Gene

Disorders for ABCA5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ABCA5 Gene - From: Orphanet

Disorder Aliases PubMed IDs
hypertrichosis, congenital generalized, with or without gingival hyperplasia
  • gingival fibromatosis with hypertrichosis
- elite association - COSMIC cancer census association via MalaCards
Search ABCA5 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ABCA5

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ABCA5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABCA5 Gene

Publications for ABCA5 Gene

  1. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey LT … EPICURO/Spanish Bladder Cancer Study investigators (European urology 2010) 3 45 60
  2. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PMID: 19170196) Shen M … Lan Q (Environmental and molecular mutagenesis 2009) 3 45 60
  3. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A … Kamatani N (Journal of human genetics 2009) 3 45 60
  4. PTEN identified as important risk factor of chronic obstructive pulmonary disease. (PMID: 19625176) Hosgood HD … Lan Q (Respiratory medicine 2009) 3 45 60
  5. Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway. (PMID: 18676680) Hosgood HD … Lan Q (Carcinogenesis 2008) 3 45 60

Products for ABCA5 Gene

Sources for ABCA5 Gene

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