ABCB10 Gene (Protein Coding)

ATP Binding Cassette Subfamily B Member 10

GC01M229516
GIFtS:
42
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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of ... See more...

Aliases for ABCB10 Gene

Aliases for ABCB10 Gene

  • ATP Binding Cassette Subfamily B Member 10 2 3 5
  • ATP-Binding Cassette Sub-Family B Member 10, Mitochondrial 2 3 4
  • Mitochondrial ATP-Binding Cassette 2 2 3 4
  • ATP-Binding Cassette Transporter 10 2 3 4
  • ABC Transporter 10 Protein 2 3 4
  • ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 10 2 3
  • M-ABC2 3 4
  • EC 3.6.3.44 54
  • EST20237 3
  • EC 3.6.3 54
  • MTABC2 3

External Ids for ABCB10 Gene

Previous GeneCards Identifiers for ABCB10 Gene

  • GC01M228099
  • GC01M225346
  • GC01M226051
  • GC01M226613
  • GC01M225959
  • GC01M227718
  • GC01M229652
  • GC01M200142

Summaries for ABCB10 Gene

Entrez Gene Summary for ABCB10 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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The function of this mitochondrial protein is unknown. [provided by RefSeq, Jul 2008]

GeneCards Summary for ABCB10 Gene

ABCB10 (ATP Binding Cassette Subfamily B Member 10) is a Protein Coding gene. Diseases associated with ABCB10 include Stereotypic Movement Disorder and Anemia, Sideroblastic, And Spinocerebellar Ataxia. 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 protein homodimerization activity and ATPase activity. An important paralog of this gene is ABCB1.

UniProtKB/Swiss-Prot Summary for ABCB10 Gene

  • May mediate critical mitochondrial transport functions related to heme biosynthesis.

Additional gene information for ABCB10 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABCB10 Gene

Genomics for ABCB10 Gene

GeneHancer (GH) Regulatory Elements for ABCB10 Gene

Promoters and enhancers for ABCB10 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABCB10 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABCB10 gene promoter:
  • AML1a
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • Pbx1a
  • TBP
  • TFIID
  • YY1

Genomic Locations for ABCB10 Gene

Genomic Locations for ABCB10 Gene
chr1:229,516,582-229,558,707
(GRCh38/hg38)
Size:
42,126 bases
Orientation:
Minus strand
chr1:229,652,329-229,694,442
(GRCh37/hg19)
Size:
42,114 bases
Orientation:
Minus strand

Genomic View for ABCB10 Gene

Genes around ABCB10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCB10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCB10 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ABCB10 Gene

Proteins for ABCB10 Gene

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  • Protein details for ABCB10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRK6-ABCBA_HUMAN
    Recommended name:
    ATP-binding cassette sub-family B member 10, mitochondrial
    Protein Accession:
    Q9NRK6
    Secondary Accessions:
    • Q13040
    • Q6P1Q8
    • Q9H3V0

    Protein attributes for ABCB10 Gene

    Size:
    738 amino acids
    Molecular mass:
    79148 Da
    Quaternary structure:
    • Homodimer or homooligomer.

    Three dimensional structures from OCA and Proteopedia for ABCB10 Gene

neXtProt entry for ABCB10 Gene

Protein Expression for ABCB10 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ABCB10 Gene

Q9NRK6:
  • QRIAIARA
  • VIAHRLST
  • KILLLDE
  • LLLDEATSALD
  • AHRLSTI

Post-translational modifications for ABCB10 Gene

  • Ubiquitination at Lys159
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCB10 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ABCB10 Gene

Gene Families for ABCB10 Gene

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

Protein Domains for ABCB10 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ABCB10 Gene

GenScript: Design optimal peptide antigens:
  • Mitochondrial ATP-binding cassette 2 (ABCBA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NRK6

UniProtKB/Swiss-Prot:

ABCBA_HUMAN :
  • Belongs to the ABC transporter superfamily. ABCB family. Mitochondrial peptide exporter (TC 3.A.1.212) subfamily.
Family:
  • Belongs to the ABC transporter superfamily. ABCB family. Mitochondrial peptide exporter (TC 3.A.1.212) subfamily.
genes like me logo Genes that share domains with ABCB10: view

Function for ABCB10 Gene

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  6. Cell Line

Molecular function for ABCB10 Gene

UniProtKB/Swiss-Prot Function:
May mediate critical mitochondrial transport functions related to heme biosynthesis.
GENATLAS Biochemistry:
ATP-binding cassette superfamily,sufamily B (MDR/TAP),member 10

Enzyme Numbers (IUBMB) for ABCB10 Gene

Phenotypes From GWAS Catalog for ABCB10 Gene

Gene Ontology (GO) - Molecular Function for ABCB10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity IEA --
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IBA 21873635
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with ABCB10: view
genes like me logo Genes that share phenotypes with ABCB10: view

Animal Models for ABCB10 Gene

MGI Knock Outs for ABCB10:

Animal Model Products

  • Taconic Biosciences Mouse Models for ABCB10

CRISPR Products

miRNA for ABCB10 Gene

miRTarBase miRNAs that target ABCB10

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCB10

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ABCB10 Gene

Localization for ABCB10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCB10 Gene

Mitochondrion inner 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 ABCB10 gene
Compartment Confidence
mitochondrion 5
plasma membrane 2
endoplasmic reticulum 1
cytosol 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for ABCB10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA 21873635
GO:0032592 integral component of mitochondrial membrane IDA 10922475
genes like me logo Genes that share ontologies with ABCB10: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ABCB10 Gene

Pathways & Interactions for ABCB10 Gene

genes like me logo Genes that share pathways with ABCB10: view

Pathways by source for ABCB10 Gene

1 KEGG pathway for ABCB10 Gene

Gene Ontology (GO) - Biological Process for ABCB10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006839 mitochondrial transport NAS 10922475
GO:0034220 ion transmembrane transport IEA --
GO:0055085 transmembrane transport IEA --
GO:0099131 ATP hydrolysis coupled ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with ABCB10: view

No data available for SIGNOR curated interactions for ABCB10 Gene

Drugs & Compounds for ABCB10 Gene

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  1. Drug

(1) Drugs for ABCB10 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
heme Pharma Agonist 0
genes like me logo Genes that share compounds with ABCB10: view

Transcripts for ABCB10 Gene

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mRNA/cDNA for ABCB10 Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(122) Selected AceView cDNA sequences:
(3) 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 ABCB10

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABCB10 Gene

No ASD Table

Relevant External Links for ABCB10 Gene

GeneLoc Exon Structure for
ABCB10
ECgene alternative splicing isoforms for
ABCB10

Expression for ABCB10 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ABCB10 Gene

mRNA expression in normal human tissues for ABCB10 Gene
mRNA expression by GTEx for ABCB10 GenemRNA expression by BioGPS for ABCB10 Gene

Protein differential expression in normal tissues from HIPED for ABCB10 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (15.7), Lung (10.6), Fetal Liver (8.1), and Colon muscle (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABCB10 Gene



Protein tissue co-expression partners for ABCB10 Gene

NURSA nuclear receptor signaling pathways regulating expression of ABCB10 Gene:

ABCB10

SOURCE GeneReport for Unigene cluster for ABCB10 Gene:

Hs.17614

mRNA Expression by UniProt/SwissProt for ABCB10 Gene:

Q9NRK6-ABCBA_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in bone marrow, expressed at intermediate to high levels in skeletal muscle, small intestine, thyroid, heart, brain, placenta, liver, pancreas, prostate, testis, ovary, leukocyte, stomach, spinal cord, lymph node, trachea and adrenal gland, and low levels are found in lung, kidney, spleen, thymus and colon.

Evidence on tissue expression from TISSUES for ABCB10 Gene

  • Blood(4.4)
  • Liver(4.2)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with ABCB10: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCB10 Gene

Orthologs for ABCB10 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCB10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ABCB10 33 32
  • 99.12 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia ABCB10 33 32
  • 89.35 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia ABCB10 33 32
  • 86.13 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Abcb10 17 33 32
  • 80.01 (n)
rat
(Rattus norvegicus)
 Mammalia Abcb10 32
  • 79.3 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ABCB10 33
  • 75 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ABCB10 33 32
  • 75.7 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ABCB10 33
  • 78 (a)
 OneToOne
African clawed frog
(Xenopus laevis)
 Amphibia Xl.15341 32
zebrafish
(Danio rerio)
 Actinopterygii abcb10 33 32
  • 66.16 (n)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta CG10226 34
  • 58 (a)
CG3156 33 32
  • 53.98 (n)
 OneToOne
EG:171D11.2 34
  • 48 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP002717 32
  • 51.81 (n)
worm
(Caenorhabditis elegans)
 Secernentea haf-3 32
  • 50.46 (n)
haf-1 33
  • 35 (a)
 ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0D00748g 32
  • 48.69 (n)
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_ACR022W 32
  • 47.97 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes MDL2 33 32
  • 47.81 (n)
 ManyToMany
MDL1 35 33
  • 37 (a)
thale cress
(Arabidopsis thaliana)
 eudicotyledons TAP2 32
  • 50.2 (n)
soybean
(Glycine max)
 eudicotyledons Gma.4067 32
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.176 32
rice
(Oryza sativa)
 Liliopsida Os03g0755100 32
  • 48.92 (n)
Os.9220 32
barley
(Hordeum vulgare)
 Liliopsida Hv.625 32
wheat
(Triticum aestivum)
 Liliopsida Ta.2793 32
bread mold
(Neurospora crassa)
 Ascomycetes NCU04117 32
  • 51.42 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes mdl1 32
  • 47.6 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea Cin.13678 32
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.13678 32
Species where no ortholog for ABCB10 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)

Evolution for ABCB10 Gene

ENSEMBL:
Gene Tree for ABCB10 (if available)
TreeFam:
Gene Tree for ABCB10 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABCB10: view image

Paralogs for ABCB10 Gene

Paralogs for ABCB10 Gene

(8) SIMAP similar genes for ABCB10 Gene using alignment to 1 proteins:

  • ABCBA_HUMAN

Pseudogenes.org Pseudogenes for ABCB10 Gene

genes like me logo Genes that share paralogs with ABCB10: view

Variants for ABCB10 Gene

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Sequence variations from dbSNP and Humsavar for ABCB10 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
VAR_035735 A breast cancer sample p.Arg471Thr
rs1000025563 -- 229,548,253(-) C/T intron_variant
rs1000141377 -- 229,547,682(-) C/A coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1000193658 -- 229,535,160(-) C/T intron_variant
rs1000432514 -- 229,519,388(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ABCB10 Gene

Variant ID Type Subtype PubMed ID
esv28834 CNV loss 19812545
nsv1068177 CNV deletion 25765185
nsv827130 CNV gain 20364138
nsv945361 CNV duplication 23825009

Variation tolerance for ABCB10 Gene

Residual Variation Intolerance Score: 31.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.54; 55.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABCB10 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCB10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCB10 Gene

Disorders for ABCB10 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ABCB10 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ABCB10

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 ABCB10: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABCB10 Gene

Publications for ABCB10 Gene

  1. Characterization and mapping of three new mammalian ATP-binding transporter genes from an EST database. (PMID: 7766993) Allikmets R … Dean M (Mammalian genome : official journal of the International Mammalian Genome Society 1995) 2 3 4 56
  2. Structures of ABCB10, a human ATP-binding cassette transporter in apo- and nucleotide-bound states. (PMID: 23716676) Shintre CA … Carpenter EP (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4 56
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56
  4. 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 43 56
  5. Three hundred twenty-six genetic variations in genes encoding nine members of ATP-binding cassette, subfamily B (ABCB/MDR/TAP), in the Japanese population. (PMID: 11829140) Saito S … Nakamura Y (Journal of human genetics 2002) 3 4 56

ExternalLinks

View latest publications for ABCB10 gene in Mastermind

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