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    ABCB10 ATP binding cassette subfamily B member 10 [ Homo sapiens (human) ]

    Gene ID: 23456, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ABCB10provided by HGNC
    Official Full Name
    ATP binding cassette subfamily B member 10provided by HGNC
    Primary source
    HGNC:HGNC:41
    See related
    Ensembl:ENSG00000135776 MIM:605454; AllianceGenome:HGNC:41
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    M-ABC2; MTABC2; EST20237
    Summary
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 17.0), duodenum (RPKM 6.7) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ABCB10 in Genome Data Viewer
    Location:
    1q42.13
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (229516582..229558707, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (228895342..228937469, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (229652329..229694454, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr1:229576278-229576818 Neighboring gene Sharpr-MPRA regulatory region 12306 Neighboring gene nucleoporin 133 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2702 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2703 Neighboring gene Sharpr-MPRA regulatory region 12340 Neighboring gene NUP133 divergent transcript Neighboring gene RNA, U4 small nuclear 21, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1932 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2704 Neighboring gene RNA, 5S ribosomal pseudogene 78 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 19 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:229730263-229730763 Neighboring gene TATA-box binding protein associated factor 5 like Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:229759383-229759933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2705 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1934 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1935

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Structures of ABCB10, a human ATP-binding cassette transporter in apo- and nucleotide-bound states. Shintre CA, et al. Proc Natl Acad Sci U S A, 2013 Jun 11. PMID 23716676, Free PMC Article
    2. Circ-ABCB10 accelerates the malignant progression of oral squamous cell carcinoma by absorbing miRNA-145-5p. Chen F, et al. Eur Rev Med Pharmacol Sci, 2020 Jan. PMID 32016969
    3. ATP-binding cassette B10 regulates early steps of heme synthesis. Bayeva M, et al. Circ Res, 2013 Jul 19. PMID 23720443, Free PMC Article
    4. ABCB10 depletion reduces unfolded protein response in mitochondria. Yano M. Biochem Biophys Res Commun, 2017 Apr 29. PMID 28315685
    5. Human mitochondrial ATP-binding cassette transporter ABCB10 is required for efficient red blood cell development. Tang L, et al. Br J Haematol, 2012 Apr. PMID 22085049

    See all (68) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cardiomyocyte-specific deletion of the mitochondrial transporter Abcb10 causes cardiac dysfunction via lysosomal-mediated ferroptosis.
      Title: Cardiomyocyte-specific deletion of the mitochondrial transporter Abcb10 causes cardiac dysfunction via lysosomal-mediated ferroptosis.
    2. Loss of the mitochondrial protein Abcb10 results in altered arginine metabolism in MEL and K562 cells and nutrient stress signaling through ATF4.
      Title: Loss of the mitochondrial protein Abcb10 results in altered arginine metabolism in MEL and K562 cells and nutrient stress signaling through ATF4.
    3. CircRNA-ABCB10 promotes gastric cancer progression by sponging miR-1915-3p to upregulate RaC1.
      Title: CircRNA-ABCB10 promotes gastric cancer progression by sponging miR-1915-3p to upregulate RaC1.
    4. ATP-binding cassette transporters mediate differential biosynthesis of glycosphingolipid species.
      Title: ATP-binding cassette transporters mediate differential biosynthesis of glycosphingolipid species.
    5. Circular RNA-ABCB10 suppresses hepatocellular carcinoma progression through upregulating NRP1/ABL2 via sponging miR-340-5p/miR-452-5p.
      Title: Circular RNA-ABCB10 suppresses hepatocellular carcinoma progression through upregulating NRP1/ABL2 via sponging miR-340-5p/miR-452-5p.
    6. Circ-ABCB10 accelerates the malignant progression of oral squamous cell carcinoma by absorbing miRNA-145-5p.
      Title: Circ-ABCB10 accelerates the malignant progression of oral squamous cell carcinoma by absorbing miRNA-145-5p.
    7. CircABCB10 silencing inhibits the cell ferroptosis and apoptosis by regulating the miR-326/CCL5 axis in rectal cancer.
      Title: CircABCB10 silencing inhibits the cell ferroptosis and apoptosis by regulating the miR-326/CCL5 axis in rectal cancer.
    8. Knockdown of circ-ABCB10 promotes sensitivity of lung cancer cells to cisplatin via miR-556-3p/AK4 axis.
      Title: Knockdown of circ-ABCB10 promotes sensitivity of lung cancer cells to cisplatin via miR-556-3p/AK4 axis.
    9. ABCB7 and ABCB10 homodimers form an architecturally defined molecular complex required for heme biosynthesis
      Title: Dimeric ferrochelatase bridges ABCB7 and ABCB10 homodimers in an architecturally defined molecular complex required for heme biosynthesis.
    10. Mutant HTT inhibits the mitochondrial unfolded protein response by impairing ABCB10 mRNA stability.
      Title: Mutant huntingtin inhibits the mitochondrial unfolded protein response by impairing ABCB10 mRNA stability.
    Submit: New GeneRIF Correction See all GeneRIFs (19)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ABC-type transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in erythrocyte development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in heme biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mitochondrial transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitochondrial unfolded protein response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of erythrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of heme biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of hemoglobin biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ATP-binding cassette sub-family B member 10, mitochondrial
    Names
    ABC transporter 10 protein
    ABC-me protein
    ABC-mitochondrial erythroid protein
    ATP-binding cassette transporter 10
    ATP-binding cassette, sub-family B (MDR/TAP), member 10
    mitochondrial ATP-binding cassette 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_012089.3 → NP_036221.2  ATP-binding cassette sub-family B member 10, mitochondrial

      See identical proteins and their annotated locations for NP_036221.2

      Status: REVIEWED

      Source sequence(s)
      AB013380, AF216833, AL121990, BC064930
      Consensus CDS
      CCDS1580.1
      UniProtKB/Swiss-Prot
      Q13040, Q6P1Q8, Q9H3V0, Q9NRK6
      Related
      ENSP00000355637.3, ENST00000344517.5
      Conserved Domains (4) summary
      cd03249
      Location:493 → 733
      ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
      COG1132
      Location:163 → 734
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
      pfam00664
      Location:177 → 438
      ABC_membrane; ABC transporter transmembrane region
      cl02554
      Location:1 → 26
      PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      229516582..229558707 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544135.4 → XP_011542437.1  ATP-binding cassette sub-family B member 10, mitochondrial isoform X1

      Conserved Domains (3) summary
      TIGR02204
      Location:2 → 554
      MsbA_rel; ABC transporter, permease/ATP-binding protein
      cd03249
      Location:314 → 554
      ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
      pfam00664
      Location:1 → 259
      ABC_membrane; ABC transporter transmembrane region

    2. XM_047416589.1 → XP_047272545.1  ATP-binding cassette sub-family B member 10, mitochondrial isoform X1

    3. XM_011544136.2 → XP_011542438.1  ATP-binding cassette sub-family B member 10, mitochondrial isoform X3

      See identical proteins and their annotated locations for XP_011542438.1

      UniProtKB/TrEMBL
      Q6ZMF8
      Conserved Domains (3) summary
      cd03249
      Location:197 → 437
      ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
      COG1126
      Location:196 → 427
      GlnQ; ABC-type polar amino acid transport system, ATPase component [Amino acid transport and metabolism]
      cl00549
      Location:12 → 142
      ABC_membrane; ABC transporter transmembrane region

    4. XM_047416590.1 → XP_047272546.1  ATP-binding cassette sub-family B member 10, mitochondrial isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      228895342..228937469 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335701.1 → XP_054191676.1  ATP-binding cassette sub-family B member 10, mitochondrial isoform X1

    2. XM_054335700.1 → XP_054191675.1  ATP-binding cassette sub-family B member 10, mitochondrial isoform X1

    3. XM_054335703.1 → XP_054191678.1  ATP-binding cassette sub-family B member 10, mitochondrial isoform X3

    4. XM_054335702.1 → XP_054191677.1  ATP-binding cassette sub-family B member 10, mitochondrial isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NRK6.2 GenPept UniProtKB/Swiss-Prot:Q9NRK6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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