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

Gene ID: 23456, updated on 11-Apr-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
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Genomic context

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Location:
1q42.13
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (229516582..229558707, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (228895342..228937469, complement)
105.20220307 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. 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
  2. ABCB10 depletion reduces unfolded protein response in mitochondria. Yano M. Biochem Biophys Res Commun, 2017 Apr 29. PMID 28315685
  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. 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
  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 (59) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. ATP-binding cassette transporters mediate differential biosynthesis of glycosphingolipid species.
    Title: ATP-binding cassette transporters mediate differential biosynthesis of glycosphingolipid species.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. Data suggest that ABCB10 silencing results in alteration in heme biosynthesis transcriptional profile due to repression by transcriptional regulator BACH1. (ABCB10 = ATP-binding cassette, sub-family B [MDR-TAP], member 10; BACH1 = BTB and CNC homology 1, basic leucine zipper transcription factor 1)
    Title: Reductions in the mitochondrial ABC transporter Abcb10 affect the transcriptional profile of heme biosynthesis genes.
Submit: New GeneRIF Correction See all GeneRIFs (18)

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)

Genotypes

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 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 
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 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_2023_10

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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