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... See more...

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 4
  • ATP-Binding Cassette A5 3
  • EC 3.6.3.41 52
  • EC 3.6.3.25 52
  • EST90625 3
  • KIAA1888 4
  • EC 3.6.3 52
  • ABC13 3
  • HTC3 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 and Lysosomal Disease. 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. Gene Ontology (GO) annotations related to this gene include GTP binding and ATPase activity. An important paralog of this gene is ABCA8.

UniProtKB/Swiss-Prot Summary for ABCA5 Gene

Additional gene information for ABCA5 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABCA5 Gene

Genomics for ABCA5 Gene

GeneHancer (GH) Regulatory Elements for ABCA5 Gene

Promoters and enhancers for ABCA5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J069325 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 508.9 +0.5 544 3 HNRNPK ZNF217 EP300 SIN3A NRF1 POLR2G NCOR1 PHF8 ZFX ZIC2 ABCA5 lnc-ABCA10-4 ABCA10 lnc-MAP2K6-7
GH17J069485 Promoter/Enhancer 0.8 EPDnew ENCODE dbSUPER 500.1 -158.3 -158307 0.6 NR2F2 ZNF664 LOC105371880 ABCA5 HE856114 ENSG00000267653 MAP2K6
GH17J069427 Enhancer 1 Ensembl ENCODE dbSUPER 14.6 -104.4 -104357 9.2 USF1 JUND POLR2A ATF2 OSR2 NFIC ZBTB17 FOS TCF12 CBLL2 ENSG00000278972 ABCA5 MAP2K6
GH17J069287 Enhancer 0.6 Ensembl 17 +40.4 40423 1.6 ZNF316 FOS FOSL2 PBX2 JUN NFE2 FOSL1 JUND NFE2L1 MAFG ABCA5 ABCA10 piR-61532-121 piR-56341-084
GH17J069394 Enhancer 0.9 Ensembl ENCODE 11.2 -67.5 -67493 0.7 CTCF RAD21 TRIM22 SMC3 FOXA2 ZBTB17 SAP130 TBP ZNF654 RCOR1 ABCA5 piR-33614-120 LOC105371879
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABCA5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABCA5

Top Transcription factor binding sites by QIAGEN in the ABCA5 gene promoter:
  • Evi-1
  • FOXL1
  • HOXA9
  • HOXA9B
  • Meis-1
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for ABCA5 Gene

Genomic Locations for ABCA5 Gene
chr17:69,244,311-69,327,244
(GRCh38/hg38)
Size:
82,934 bases
Orientation:
Minus strand
chr17:67,240,452-67,323,385
(GRCh37/hg19)
Size:
82,934 bases
Orientation:
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:
    Q8WWZ7-ABCA5_HUMAN
    Recommended name:
    ATP-binding cassette sub-family A member 5
    Protein Accession:
    Q8WWZ7
    Secondary Accessions:
    • Q8IVJ2
    • Q96LJ1
    • Q96MS4
    • Q96PZ9
    • Q9NY14

    Protein attributes for ABCA5 Gene

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

    Alternative splice isoforms for ABCA5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCA5 Gene

Selected DME Specific Peptides for ABCA5 Gene

Q8WWZ7:
  • NGAGKST
  • LDEPTAG
  • GPNGAGKS
  • KILLLDE
  • GLLGPNGAGK
  • LLGPNGAGK

Post-translational modifications for ABCA5 Gene

Domains & Families for ABCA5 Gene

Gene Families for ABCA5 Gene

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

Protein Domains for ABCA5 Gene

Suggested Antigen Peptide Sequences for ABCA5 Gene

GenScript: Design optimal peptide antigens:
  • ATP-binding cassette sub-family A member 5 (ABCA5_HUMAN)
  • ABCA5 protein (Q05C38_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WWZ7

UniProtKB/Swiss-Prot:

ABCA5_HUMAN :
  • Belongs to the ABC transporter superfamily. ABCA family.
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

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

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:0005319 lipid transporter activity TAS --
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity IEA --
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IEA,IBA 21873635
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

  • Taconic Biosciences Mouse Models for ABCA5

CRISPR 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

COMPARTMENTS
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
endosome 3
golgi apparatus 3
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 IBA,ISS 15870284
genes like me logo Genes that share ontologies with ABCA5: view

Pathways & Interactions for ABCA5 Gene

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

Pathways by source for ABCA5 Gene

Gene Ontology (GO) - Biological Process for ABCA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport IBA 21873635
GO:0010745 negative regulation of macrophage derived foam cell differentiation ISS 20382126
GO:0030301 cholesterol transport IEA --
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 1285
LIM-0705 Pharma 0
genes like me logo Genes that share compounds with ABCA5: view

Transcripts for ABCA5 Gene

mRNA/cDNA for ABCA5 Gene

2 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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 ^
SP1:
SP2: -
SP3:
SP4:
SP5: - -

ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41a · 41b
SP1: -
SP2:
SP3:
SP4:
SP5:

Relevant External Links for ABCA5 Gene

GeneLoc Exon Structure for
ABCA5

Expression for ABCA5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABCA5

SOURCE GeneReport for Unigene cluster for ABCA5 Gene:

Hs.731824

mRNA Expression by UniProt/SwissProt for ABCA5 Gene:

Q8WWZ7-ABCA5_HUMAN
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
Systems:
  • digestive
  • integumentary
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia ABCA5 31 30
  • 99.53 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ABCA5 31 30
  • 92.73 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Abca5 17 31 30
  • 86.58 (n)
rat
(Rattus norvegicus)
Mammalia Abca5 30
  • 86.22 (n)
cow
(Bos Taurus)
Mammalia ABCA5 31 30
  • 85.74 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCA5 31
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABCA5 31
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABCA5 31 30
  • 68.38 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 71 (a)
OneToMany
-- 31
  • 64 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia abca5 30
  • 62.22 (n)
zebrafish
(Danio rerio)
Actinopterygii abca5 31 30
  • 57.49 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010416 30
  • 39.79 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9990 31
  • 17 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea abt-5 31
  • 21 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 36 (a)
OneToMany
Cin.2481 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2481 30
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

ENSEMBL:
Gene Tree for ABCA5 (if available)
TreeFam:
Gene Tree for ABCA5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABCA5: view image

Paralogs for ABCA5 Gene

Paralogs for ABCA5 Gene

(14) SIMAP similar genes for ABCA5 Gene using alignment to 9 proteins:

  • ABCA5_HUMAN
  • E7ETD3_HUMAN
  • K7EJW6_HUMAN
  • K7EKS9_HUMAN
  • K7EMV2_HUMAN
  • K7ENF9_HUMAN
  • K7EPM3_HUMAN
  • K7EQ50_HUMAN
  • Q05C38_HUMAN
genes like me logo Genes that share paralogs with ABCA5: view

Variants for ABCA5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABCA5 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs199753304 Pathogenic: Inborn genetic diseases; Gingival fibromatosis with hypertrichosis 69,253,793(-) C/G SPLICE_DONOR_VARIANT
rs11544715 - p.Ala178Thr
rs11544716 - p.Asp1260Gly
rs12383 - p.Gln93Lys
rs17686569 - p.Gln484Arg

Additional dbSNP identifiers (rs#s) for ABCA5 Gene

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

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

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)

Additional Variant Information for ABCA5 Gene

Human Gene Mutation Database (HGMD)
ABCA5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCA5

SNP Genotyping and Copy Number Assay Products

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

Disorders for ABCA5 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ABCA5 Gene - From: ClinVar, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ABCA5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ABCA5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 41 54
  2. 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 41 54
  3. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PMID: 19170196) Shen M … Lan Q (Environmental and molecular mutagenesis 2009) 3 41 54
  4. PTEN identified as important risk factor of chronic obstructive pulmonary disease. (PMID: 19625176) Hosgood HD … Lan Q (Respiratory medicine 2009) 3 41 54
  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 41 54

Products for ABCA5 Gene

Sources for ABCA5 Gene