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 ABCA10 Gene

Aliases for ABCA10 Gene

  • ATP Binding Cassette Subfamily A Member 10 2 3 5
  • ATP-Binding Cassette, Sub-Family A (ABC1), Member 10 2 3
  • ATP-Binding Cassette Sub-Family A Member 10 3 4
  • EST698739 2 3
  • ATP-Binding Cassette A10 3
  • EC 3.6.3.41 51
  • EC 3.6.3 51
  • ABCA10 5

External Ids for ABCA10 Gene

Previous GeneCards Identifiers for ABCA10 Gene

  • GC17M066943
  • GC17M070104
  • GC17M067601
  • GC17M067741
  • GC17M064650
  • GC17M067144
  • GC17M062529

Summaries for ABCA10 Gene

Entrez Gene Summary for ABCA10 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for ABCA10 Gene

ABCA10 (ATP Binding Cassette Subfamily A Member 10) is a Protein Coding gene. Diseases associated with ABCA10 include Donnai-Barrow Syndrome. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation 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 ATPase activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCA9.

UniProtKB/Swiss-Prot Summary for ABCA10 Gene

  • Probable transporter which may play a role in macrophage lipid homeostasis.

Additional gene information for ABCA10 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABCA10 Gene

Genomics for ABCA10 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ABCA10 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 600.2 -81.9 -81852 3 GATAD2A ZBTB33 HNRNPL PRDM10 TFE3 KDM1A POLR2A RCOR2 ZNF7 BACH1 ABCA5 lnc-ABCA10-4 ABCA10 lnc-MAP2K6-7
GH17J069227 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 600.4 +16.8 16826 1.6 PKNOX1 RUNX3 FOXA2 ZNF652 lnc-ABCA5-5 ABCA10 lnc-MAP2K6-8 ABCA6
GH17J069245 Enhancer 0.5 Ensembl 600.7 -0.9 -853 0.6 PRDM1 ARNT JUNB CEBPB ATF3 ATF2 ATF7 RNF2 CREM ABCA10 lnc-ABCA10-1 ABCA5
GH17J069175 Enhancer 1.1 Ensembl ENCODE 31.8 +69.7 69747 5.4 GATAD2A PRDM10 IKZF1 JUND ZNF24 RXRB NR2C1 BRD9 DPF2 HDAC1 HSALNG0118405 ABCA10 ABCA6 ABCA9 piR-61945-224
GH17J068454 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.3 +785.5 785536 10.4 CEBPG SP1 CREB1 GATAD2A CTCF ATF7 TEAD4 PRDM10 ZNF629 TFE3 WIPI1 lnc-ARSG-3 NOL11 PRKAR1A MIR635 ABCA10 LINC01482 SLC16A6 ENSG00000267009 lnc-ARSG-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABCA10 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABCA10

Top Transcription factor binding sites by QIAGEN in the ABCA10 gene promoter:
  • C/EBPalpha
  • CHOP-10
  • GR
  • GR-alpha
  • GR-beta
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4

Genomic Locations for ABCA10 Gene

Genomic Locations for ABCA10 Gene
chr17:69,147,214-69,244,848
(GRCh38/hg38)
Size:
97,635 bases
Orientation:
Minus strand
chr17:67,143,355-67,240,987
(GRCh37/hg19)
Size:
97,633 bases
Orientation:
Minus strand

Genomic View for ABCA10 Gene

Genes around ABCA10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCA10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCA10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCA10 Gene

Proteins for ABCA10 Gene

  • Protein details for ABCA10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WWZ4-ABCAA_HUMAN
    Recommended name:
    ATP-binding cassette sub-family A member 10
    Protein Accession:
    Q8WWZ4
    Secondary Accessions:
    • C9JZH2
    • C9K035
    • Q6PIQ6
    • Q7Z2I9
    • Q7Z7P7
    • Q86TD2

    Protein attributes for ABCA10 Gene

    Size:
    1543 amino acids
    Molecular mass:
    175790 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ABCA10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCA10 Gene

Selected DME Specific Peptides for ABCA10 Gene

Q8WWZ4:
  • DEPTAGLD
  • NGAGKST
  • LDEPTAG
  • VLLLDEP
  • DEPTAGLDP

Post-translational modifications for ABCA10 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ABCA10 Gene

Gene Families for ABCA10 Gene

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

Protein Domains for ABCA10 Gene

Suggested Antigen Peptide Sequences for ABCA10 Gene

GenScript: Design optimal peptide antigens:
  • ATP-binding cassette sub-family A member 10 (ABCAA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WWZ4

UniProtKB/Swiss-Prot:

ABCAA_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 ABCA10: view

Function for ABCA10 Gene

Molecular function for ABCA10 Gene

UniProtKB/Swiss-Prot Function:
Probable transporter which may play a role in macrophage lipid homeostasis.
UniProtKB/Swiss-Prot Induction:
Down-regulated by cholesterol loading of macrophages.

Enzyme Numbers (IUBMB) for ABCA10 Gene

Phenotypes From GWAS Catalog for ABCA10 Gene

Gene Ontology (GO) - Molecular Function for ABCA10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005319 lipid transporter activity IBA 21873635
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 ABCA10: view
genes like me logo Genes that share phenotypes with ABCA10: view

Animal Model Products

CRISPR Products

miRNA for ABCA10 Gene

miRTarBase miRNAs that target ABCA10

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCA10

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ABCA10 Gene

Localization for ABCA10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCA10 Gene

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 ABCA10 gene
Compartment Confidence
plasma membrane 3
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ABCA10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IBA 21873635
genes like me logo Genes that share ontologies with ABCA10: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ABCA10 Gene

Pathways & Interactions for ABCA10 Gene

genes like me logo Genes that share pathways with ABCA10: view

Pathways by source for ABCA10 Gene

Interacting Proteins for ABCA10 Gene

Gene Ontology (GO) - Biological Process for ABCA10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport IBA 21873635
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with ABCA10: view

No data available for SIGNOR curated interactions for ABCA10 Gene

Drugs & Compounds for ABCA10 Gene

No Compound Related Data Available

Transcripts for ABCA10 Gene

mRNA/cDNA for ABCA10 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCA10

Alternative Splicing Database (ASD) splice patterns (SP) for ABCA10 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b · 21c · 21d
SP1: - -
SP2:
SP3: -
SP4:
SP5: -
SP6:

Relevant External Links for ABCA10 Gene

GeneLoc Exon Structure for
ABCA10

Expression for ABCA10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ABCA10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for ABCA10 Gene

This gene is overexpressed in Nerve - Tibial (x5.8) and Ovary (x5.3).

Protein differential expression in normal tissues from HIPED for ABCA10 Gene

This gene is overexpressed in Blymphocyte (32.4), Neutrophil (18.1), Monocytes (9.3), and Tlymphocyte (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ABCA10 Gene



Protein tissue co-expression partners for ABCA10 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABCA10

SOURCE GeneReport for Unigene cluster for ABCA10 Gene:

Hs.25377

mRNA Expression by UniProt/SwissProt for ABCA10 Gene:

Q8WWZ4-ABCAA_HUMAN
Tissue specificity: Widely expressed. Highly expressed in skeletal muscle, heart, brain and gastrointestinal tract.

Evidence on tissue expression from TISSUES for ABCA10 Gene

  • Liver(4.4)
  • Muscle(4.3)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with ABCA10: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCA10 Gene

Orthologs for ABCA10 Gene

This gene was present in the common ancestor of animals.

Orthologs for ABCA10 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ABCA10 30
  • 99.05 (n)
Cow
(Bos Taurus)
Mammalia ABCA10 30 31
  • 77.23 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 59 (a)
ManyToMany
-- 31
  • 57 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 57 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Abca8a 31
  • 54 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves -- 31
  • 51 (a)
ManyToMany
-- 31
  • 45 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 43 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii abch1 31
  • 17 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG42816 31
  • 22 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea abt-5 31
  • 19 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 29 (a)
OneToMany
Species where no ortholog for ABCA10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Dog (Canis familiaris)
  • 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)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 ABCA10 Gene

ENSEMBL:
Gene Tree for ABCA10 (if available)
TreeFam:
Gene Tree for ABCA10 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABCA10: view image

Paralogs for ABCA10 Gene

Paralogs for ABCA10 Gene

(13) SIMAP similar genes for ABCA10 Gene using alignment to 6 proteins:

  • ABCAA_HUMAN
  • E5RFN6_HUMAN
  • E5RFP5_HUMAN
  • H0YBL8_HUMAN
  • K7EMH5_HUMAN
  • K7ERP5_HUMAN

Pseudogenes.org Pseudogenes for ABCA10 Gene

genes like me logo Genes that share paralogs with ABCA10: view

Variants for ABCA10 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABCA10 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
777215 Benign: not provided 69,154,324(-) C/CACCTGGAA SPLICE_ACCEPTOR_VARIANT
rs3842375 Benign: not specified 69,149,049(-) TGA/T FRAMESHIFT_VARIANT
rs10491178 - p.Arg1322Trp
rs11657804 - p.Ile287Val
rs4968849 - p.Met916Thr

Additional dbSNP identifiers (rs#s) for ABCA10 Gene

Structural Variations from Database of Genomic Variants (DGV) for ABCA10 Gene

Variant ID Type Subtype PubMed ID
dgv5757n54 CNV loss 21841781
nsv1055156 CNV loss 25217958
nsv2128 CNV insertion 18451855
nsv2129 CNV insertion 18451855
nsv457888 CNV loss 19166990
nsv470598 CNV loss 18288195
nsv516799 CNV loss 19592680
nsv575930 CNV loss 21841781
nsv575932 CNV loss 21841781
nsv575934 CNV loss 21841781
nsv833527 CNV gain+loss 17160897

Variation tolerance for ABCA10 Gene

Residual Variation Intolerance Score: 97.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.10; 95.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABCA10 Gene

Human Gene Mutation Database (HGMD)
ABCA10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCA10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCA10 Gene

Disorders for ABCA10 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ABCA10 Gene - From: DISEASES

Disorder Aliases PubMed IDs
donnai-barrow syndrome
  • faciooculoacousticorenal syndrome
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with ABCA10: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABCA10 Gene

Publications for ABCA10 Gene

  1. ABCA10, a novel cholesterol-regulated ABCA6-like ABC transporter. (PMID: 12821155) Wenzel JJ … Schmitz G (Biochemical and biophysical research communications 2003) 2 3 4 23
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. The human ATP-binding cassette (ABC) transporter superfamily. (PMID: 11435397) Dean M … Allikmets R (Genome research 2001) 2 3
  4. A comprehensive evaluation of the role of genetic variation in follicular lymphoma survival. (PMID: 25294155) Baecklund F … Smedby KE (BMC medical genetics 2014) 3
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for ABCA10 Gene

Sources for ABCA10 Gene