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Aliases for ABCA5 Gene

Aliases for ABCA5 Gene

  • ATP-Binding Cassette, Sub-Family A (ABC1), Member 5 2 3
  • KIAA1888 4 6
  • ATP-Binding Cassette Sub-Family A Member 5 3
  • ATP-Binding Cassette A5 3
  • EC 3.6.3.41 63
  • EC 3.6.3.25 63
  • EST90625 3
  • 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, Sub-Family A (ABC1), 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 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

Genomic Location for ABCA5 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Domains for ABCA5 Gene

Gene Families for ABCA5 Gene

HGNC:
  • ABCA :ATP binding cassette transporters / subfamily A
IUPHAR :

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 :
  • Q8WWZ7
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:0003924 GTPase activity --
GO:0005524 ATP binding IEA --
GO:0005525 GTP binding --
GO:0016887 ATPase activity --
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IBA --
genes like me logo Genes that share ontologies with ABCA5: view
genes like me logo Genes that share phenotypes with ABCA5: view

Animal Models for ABCA5 Gene

MGI Knock Outs for ABCA5:

miRNA for ABCA5 Gene

miRTarBase miRNAs that target ABCA5

No data available for Transcription Factor Targeting 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 5
golgi apparatus 5
lysosome 5
vacuole 5
plasma membrane 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 IEA --
GO:0005770 late endosome ISS 15870284
GO:0005794 Golgi apparatus --
genes like me logo Genes that share ontologies with ABCA5: view

Pathways 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:0006200 obsolete ATP catabolic process --
GO:0006869 lipid transport IBA --
GO:0008152 metabolic process IEA --
GO:0010745 negative regulation of macrophage derived foam cell differentiation ISS 20382126
GO:0033344 cholesterol efflux ISS 20382126
genes like me logo Genes that share ontologies with ABCA5: view

Compounds for ABCA5 Gene

(1) Drugbank Compounds for ABCA5 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Tacrolimus
  • FK-506
104987-11-3 transporter substrate
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 (5.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, 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 expressions with ABCA5: view

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 35
  • 99.53 (n)
  • 99.03 (a)
ABCA5 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia ABCA5 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCA5 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abca5 35
  • 86.22 (n)
  • 90.26 (a)
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 MAF
rs12383 - 69,313,122(+) TTTCT(G/T)CATGA missense, reference
rs15886 -- 69,247,148(+) TTATG(A/T)ATTAG utr-variant-3-prime
rs112914 -- 69,312,898(+) ACCAC(C/T)AAGAA intron-variant
rs333936 -- 69,322,284(+) agaat(C/T)actcg intron-variant
rs333937 -- 69,323,169(+) TTCCT(C/T)ATTTT intron-variant

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

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

MalaCards: The human disease database. (1) Diseases for ABCA5 Gene including...

Search for ABCA5 Gene in MalaCards »

Relevant External Links for ABCA5

Genetic Association Database (GAD)
ABCA5
Human Genome Epidemiology (HuGE) Navigator
ABCA5
genes like me logo Genes that share disorders with ABCA5: view

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

Publications for ABCA5 Gene

  1. 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
  2. Cloning of human and rat ABCA5/Abca5 and detection of a human splice variant. (PMID: 12504089) Petry F. … Hirsch-Ernst K.I. (Biochem. Biophys. Res. Commun. 2003) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway. (PMID: 18676680) Hosgood H.D. … Lan Q. (Carcinogenesis 2008) 3 48
  5. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PMID: 19170196) Shen M. … Lan Q. (Environ. Mol. Mutagen. 2009) 3 48

Products for ABCA5 Gene

Sources for ABCA5 Gene

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