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

    Gene ID: 23456, updated on 23-Nov-2021

    Summary

    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
    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
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    Genomic context

    See ABCB10 in Genome Data Viewer
    Location:
    1q42.13
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (229516582..229558988, complement)
    105.20201022 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 Sharpr-MPRA regulatory region 12306 Neighboring gene nucleoporin 133 Neighboring gene Sharpr-MPRA regulatory region 12340 Neighboring gene NUP133 divergent transcript Neighboring gene RNA, U4 small nuclear 21, pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 78 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 19 Neighboring gene TATA-box binding protein associated factor 5 like

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 integral component of mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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)

    NEW Try the new Transcript table

    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_012089.3NP_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
      Q9NRK6
      Related
      ENSP00000355637.3, ENST00000344517.5
      Conserved Domains (4) summary
      cd03249
      Location:493733
      ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
      COG1132
      Location:163734
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
      pfam00664
      Location:177438
      ABC_membrane; ABC transporter transmembrane region
      cl02554
      Location:126
      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: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      229516582..229558988 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544135.3XP_011542437.1  ATP-binding cassette sub-family B member 10, mitochondrial isoform X1

      Conserved Domains (3) summary
      TIGR02204
      Location:2554
      MsbA_rel; ABC transporter, permease/ATP-binding protein
      cd03249
      Location:314554
      ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
      pfam00664
      Location:1259
      ABC_membrane; ABC transporter transmembrane region
    2. XM_011544136.2XP_011542438.1  ATP-binding cassette sub-family B member 10, mitochondrial isoform X2

      See identical proteins and their annotated locations for XP_011542438.1

      Conserved Domains (3) summary
      cd03249
      Location:197437
      ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
      COG1126
      Location:196427
      GlnQ; ABC-type polar amino acid transport system, ATPase component [Amino acid transport and metabolism]
      cl00549
      Location:12142
      ABC_membrane; ABC transporter transmembrane region

    RNA

    1. XR_001737084.2 RNA Sequence

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