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Aliases for ABCA13 Gene

Aliases for ABCA13 Gene

  • ATP-Binding Cassette, Sub-Family A (ABC1), Member 13 2 3
  • EC 2.7.11.25 63
  • EC 3.6.3 63

External Ids for ABCA13 Gene

Summaries for ABCA13 Gene

Entrez Gene Summary for ABCA13 Gene

  • In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009]

GeneCards Summary for ABCA13 Gene

ABCA13 (ATP-Binding Cassette, Sub-Family A (ABC1), Member 13) is a Protein Coding gene. 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.

Gene Wiki entry for ABCA13 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCA13 Gene

Genomics for ABCA13 Gene

Genomic Location for ABCA13 Gene

Start:
48,171,458 bp from pter
End:
48,647,496 bp from pter
Size:
476,039 bases
Orientation:
Plus strand

Genomic View for ABCA13 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ABCA13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCA13 Gene

Regulatory Elements for ABCA13 Gene

Proteins for ABCA13 Gene

  • Protein details for ABCA13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86UQ4-ABCAD_HUMAN
    Recommended name:
    ATP-binding cassette sub-family A member 13
    Protein Accession:
    Q86UQ4
    Secondary Accessions:
    • K9LC76
    • K9LC79
    • K9LCX7
    • K9LDK8
    • K9LDY4
    • Q6ZTT7
    • Q86WI2
    • Q8N248

    Protein attributes for ABCA13 Gene

    Size:
    5058 amino acids
    Molecular mass:
    576159 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC03623.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC86492.1; Type=Erroneous termination; Positions=123; Note=Translated as Glu.; Evidence={ECO:0000305}; Sequence=BAC86492.1; Type=Frameshift; Positions=156; Evidence={ECO:0000305};

    Alternative splice isoforms for ABCA13 Gene

neXtProt entry for ABCA13 Gene

Proteomics data for ABCA13 Gene at MOPED

Selected DME Specific Peptides for ABCA13 Gene

Post-translational modifications for ABCA13 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ABCA13 Gene

Domains for ABCA13 Gene

Gene Families for ABCA13 Gene

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

Protein Domains for ABCA13 Gene

Suggested Antigen Peptide Sequences for ABCA13 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86UQ4

UniProtKB/Swiss-Prot:

ABCAD_HUMAN
Domain:
  • Contains 2 ABC transporter domains.:
    • Q86UQ4
Family:
  • Belongs to the ABC transporter superfamily.:
    • Q86UQ4
genes like me logo Genes that share domains with ABCA13: view

Function for ABCA13 Gene

Enzyme Numbers (IUBMB) for ABCA13 Gene

Gene Ontology (GO) - Molecular Function for ABCA13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0005548 phospholipid transporter activity IBA --
GO:0016887 ATPase activity --
GO:0017127 cholesterol transporter activity IBA --
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IBA --
genes like me logo Genes that share ontologies with ABCA13: view

miRNA for ABCA13 Gene

miRTarBase miRNAs that target ABCA13

No data available for Molecular function , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for ABCA13 Gene

Localization for ABCA13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCA13 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABCA13 Gene COMPARTMENTS Subcellular localization image for ABCA13 gene
Compartment Confidence
plasma membrane 3
golgi apparatus 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ABCA13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IBA --
GO:0016021 integral component of membrane --
GO:0043231 intracellular membrane-bounded organelle IBA --
genes like me logo Genes that share ontologies with ABCA13: view

Pathways for ABCA13 Gene

SuperPathways for ABCA13 Gene

Superpath Contained pathways
1 ABC-family proteins mediated transport
genes like me logo Genes that share pathways with ABCA13: view

Pathways by source for ABCA13 Gene

1 KEGG pathway for ABCA13 Gene

Interacting Proteins for ABCA13 Gene

Gene Ontology (GO) - Biological Process for ABCA13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006810 transport --
GO:0008152 metabolic process IEA --
GO:0033344 cholesterol efflux IBA --
GO:0033700 phospholipid efflux IBA --
genes like me logo Genes that share ontologies with ABCA13: view

Transcripts for ABCA13 Gene

Unigene Clusters for ABCA13 Gene

ATP-binding cassette, sub-family A (ABC1), member 13:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ABCA13 Gene

No ASD Table

Relevant External Links for ABCA13 Gene

GeneLoc Exon Structure for
ABCA13
ECgene alternative splicing isoforms for
ABCA13

Expression for ABCA13 Gene

mRNA expression in normal human tissues for ABCA13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ABCA13 Gene

This gene is overexpressed in Whole Blood (12.5), Thyroid (8.6), and Esophagus - Mucosa (4.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ABCA13 Gene

SOURCE GeneReport for Unigene cluster for ABCA13 Gene Hs.226568

mRNA Expression by UniProt/SwissProt for ABCA13 Gene

Q86UQ4-ABCAD_HUMAN
Tissue specificity: Significantly expressed in the bone marrow, trachea, testis, thyroid and lung as well as in skin fibroblasts.
genes like me logo Genes that share expressions with ABCA13: view

Orthologs for ABCA13 Gene

This gene was present in the common ancestor of animals.

Orthologs for ABCA13 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABCA13 35
  • 99.03 (n)
  • 98.31 (a)
ABCA13 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ABCA13 35
  • 77.18 (n)
  • 67.02 (a)
ABCA13 36
  • 66 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCA13 35
  • 75.22 (n)
  • 65.82 (a)
ABCA13 36
  • 62 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abca13 35
  • 76.24 (n)
  • 66.29 (a)
Abca13 16
Abca13 36
  • 66 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABCA13 36
  • 57 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abca13 35
  • 75.53 (n)
  • 65.73 (a)
zebrafish
(Danio rerio)
Actinopterygii abch1 36
  • 18 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG34120 36
  • 22 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea abt-2 36
  • 24 (a)
OneToOne
Species with no ortholog for ABCA13:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ABCA13 Gene

ENSEMBL:
Gene Tree for ABCA13 (if available)
TreeFam:
Gene Tree for ABCA13 (if available)

Paralogs for ABCA13 Gene

Paralogs for ABCA13 Gene

genes like me logo Genes that share paralogs with ABCA13: view

Variants for ABCA13 Gene

Sequence variations from dbSNP and Humsavar for ABCA13 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs2188 -- 48,198,205(+) GTATA(C/T)GGACT intron-variant
rs17060 -- 48,198,227(+) TGCAT(C/T)TATTT intron-variant
rs713061 -- 48,333,890(+) CTTGC(A/C)CTGTC intron-variant
rs717707 -- 48,389,832(-) ATTTC(A/G)TAATT intron-variant
rs735069 -- 48,464,296(-) TTCAG(G/T)TTTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ABCA13 Gene

Variant ID Type Subtype PubMed ID
nsv470221 CNV Gain 18288195
nsv464442 CNV Gain 19166990
nsv528154 CNV Loss 19592680
nsv888005 CNV Loss 21882294
esv2659311 CNV Deletion 23128226
nsv5733 CNV Loss 18451855
esv2600887 CNV Deletion 19546169
esv2314060 CNV Deletion 18987734
esv2671369 CNV Deletion 23128226
nsv499496 CNV Loss 21111241
nsv514415 CNV Gain 21397061
esv2623647 CNV Loss 19546169
nsv521082 CNV Loss 19592680
nsv442041 CNV CNV 18776908
nsv888006 CNV Loss 21882294
nsv888007 CNV Loss 21882294
nsv524173 CNV Loss 19592680
nsv830992 CNV Gain 17160897
esv1790237 CNV Insertion 17803354
nsv888008 CNV Loss 21882294
esv2672976 CNV Deletion 23128226
esv21443 CNV Loss 19812545
nsv514416 CNV Loss 21397061
esv2421774 CNV Deletion 20811451
nsv442042 CNV CNV 18776908
nsv527625 CNV Loss 19592680
esv275242 CNV Gain+Loss 21479260
esv993578 CNV Gain 20482838
esv2662109 CNV Deletion 23128226
esv2734370 CNV Deletion 23290073

Relevant External Links for ABCA13 Gene

HapMap Linkage Disequilibrium report
ABCA13
Human Gene Mutation Database (HGMD)
ABCA13
Locus Specific Mutation Databases (LSDB)
ABCA13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCA13 Gene

Disorders for ABCA13 Gene

Relevant External Links for ABCA13

Genetic Association Database (GAD)
ABCA13
Human Genome Epidemiology (HuGE) Navigator
ABCA13
genes like me logo Genes that share disorders with ABCA13: view

No data available for UniProtKB/Swiss-Prot for ABCA13 Gene

Publications for ABCA13 Gene

  1. The human ATP binding cassette gene ABCA13, located on chromosome 7p12.3, encodes a 5058 amino acid protein with an extracellular domain encoded in part by a 4.8-kb conserved exon. (PMID: 12697998) Prades C. … Dean M. (Cytogenet. Genome Res. 2002) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PMID: 19058789) de Krom M. … van Ree J.M. (Biol. Psychiatry 2009) 3 48
  4. A cytogenetic abnormality and rare coding variants identify ABCA13 as a candidate gene in schizophrenia, bipolar disorder, and depression. (PMID: 19944402) Knight H.M. … Blackwood D.H. (Am. J. Hum. Genet. 2009) 3 48
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48

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