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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 A5 3
  • EC 3.6.3.41 63
  • EC 3.6.3.25 63
  • EST90625 3
  • KIAA1888 4
  • EC 3.6.3 63
  • 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 terminalis, generalized, with or without gingival hyperplasia. Among its related pathways are ABC-family proteins mediated transport. GO annotations related to this gene include GTP binding and ATPase activity. An important paralog of this gene is ABCA4.

UniProtKB/Swiss-Prot for ABCA5 Gene

  • May play a role in the processing of autolysosomes.

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around ABCA5 on UCSC Golden Path with GeneCards custom track

Genomic Location for ABCA5 Gene

Chromosome:
17
Start:
69,244,311 bp from pter
End:
69,327,244 bp from pter
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

Proteomics data for ABCA5 Gene at MOPED

Selected DME Specific Peptides for ABCA5 Gene

Post-translational modifications for ABCA5 Gene

Antibody Products

Domains & Families for ABCA5 Gene

Gene Families for ABCA5 Gene

Protein Domains for ABCA5 Gene

Suggested Antigen Peptide Sequences for ABCA5 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WWZ7

UniProtKB/Swiss-Prot:

ABCA5_HUMAN :
  • Contains 2 ABC transporter domains.
  • Belongs to the ABC transporter superfamily. ABCA family.
Domain:
  • Contains 2 ABC transporter domains.
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

Gene Ontology (GO) - Molecular Function for ABCA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

  • Taconic Biosciences Mouse Models for ABCA5

miRNA for ABCA5 Gene

miRTarBase miRNAs that target ABCA5

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
Jensen Localization Image for ABCA5 Gene COMPARTMENTS Subcellular localization image for ABCA5 gene
Compartment Confidence
endosome 3
golgi apparatus 3
lysosome 3
plasma membrane 3
vacuole 3

Gene Ontology (GO) - Cellular Components for ABCA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0031902 late endosome membrane IEA --
genes like me logo Genes that share ontologies with ABCA5: view

Pathways & Interactions for ABCA5 Gene

SuperPathways for ABCA5 Gene

Superpath Contained pathways
1 ABC-family proteins mediated transport
genes like me logo Genes that share pathways with ABCA5: view

Pathways by source for ABCA5 Gene

1 KEGG pathway 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 --
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 1045
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:

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
ECgene alternative splicing isoforms for
ABCA5

Expression for ABCA5 Gene

mRNA expression in normal human tissues 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



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.
genes like me logo Genes that share expression patterns with ABCA5: view

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia ABCA5 35
  • 85.74 (n)
  • 87.25 (a)
ABCA5 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCA5 35
  • 92.73 (n)
  • 93.06 (a)
ABCA5 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abca5 35
  • 86.58 (n)
  • 90.07 (a)
Abca5 16
Abca5 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ABCA5 35
  • 99.53 (n)
  • 99.03 (a)
ABCA5 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abca5 35
  • 86.22 (n)
  • 90.26 (a)
oppossum
(Monodelphis domestica)
Mammalia ABCA5 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCA5 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABCA5 35
  • 68.38 (n)
  • 72.02 (a)
ABCA5 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 64 (a)
OneToMany
-- 36
  • 71 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia abca5 35
  • 62.22 (n)
  • 57.37 (a)
zebrafish
(Danio rerio)
Actinopterygii abca5 35
  • 57.49 (n)
  • 53.09 (a)
abca5 36
  • 51 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010416 35
  • 39.79 (n)
  • 27.95 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG9990 36
  • 17 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea abt-5 36
  • 21 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2481 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToMany
Species with no ortholog for ABCA5:
  • 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)

Paralogs for ABCA5 Gene

Paralogs for ABCA5 Gene

Pseudogenes.org Pseudogenes for ABCA5 Gene

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

Variants for ABCA5 Gene

Sequence variations from dbSNP and Humsavar for ABCA5 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs12383 - 69,313,122(+) TTTCT(G/T)CATGA reference, missense
rs17686569 - 69,294,699(+) TCTTC(C/T)GAATA reference, missense
rs9898003 - 69,285,913(+) GTCCA(C/G/T)GTCCT reference, missense
rs536009 - 69,277,741(+) TAGAG(A/C/G)AGCCT reference, missense
rs557491 - 69,271,176(+) ATGCA(C/T)CACAT reference, missense

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

Variant ID Type Subtype PubMed ID
nsv833527 CNV Gain+Loss 17160897
esv275054 CNV Loss 21479260
nsv457890 CNV Loss 19166990
nsv908706 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
ABCA5
Human Gene Mutation Database (HGMD)
ABCA5

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: ClinVar and Orphanet

Disorder Aliases PubMed IDs
hypertrichosis terminalis, 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)
ABCA5
Human Genome Epidemiology (HuGE) Navigator
ABCA5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCA5
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 L.T. … Malats N. (Eur. Urol. 2010) 3 48 67
  2. Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database. (PMID: 8894702) Allikmets R. … Dean M. (Hum. Mol. Genet. 1996) 2 3
  3. ABCA5 regulates amyloid-I^ peptide production and is associated with Alzheimer's disease neuropathology. (PMID: 25125465) Fu Y. … Kim W.S. (J. Alzheimers Dis. 2015) 3
  4. Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth. (PMID: 24831815) DeStefano G.M. … Christiano A.M. (PLoS Genet. 2014) 3
  5. Global landscape of HIV-human protein complexes. (PMID: 22190034) JAoger S. … Krogan N.J. (Nature 2012) 3

Products for ABCA5 Gene

Sources for ABCA5 Gene

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