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    ABCB5 ATP binding cassette subfamily B member 5 [ Homo sapiens (human) ]

    Gene ID: 340273, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ABCB5provided by HGNC
    Official Full Name
    ATP binding cassette subfamily B member 5provided by HGNC
    Primary source
    HGNC:HGNC:46
    See related
    Ensembl:ENSG00000004846 MIM:611785; AllianceGenome:HGNC:46
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ABCB5beta; EST422562; ABCB5alpha
    Summary
    ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See ABCB5 in Genome Data Viewer
    Location:
    7p21.1
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (20615667..20757008)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (20750588..20892996)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (20655290..20796631)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 27 Neighboring gene RAS like proto-oncogene A pseudogene Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:20681108-20682307 Neighboring gene NANOG hESC enhancer GRCh37_chr7:20693236-20693793 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr7:20815756-20816338 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr7:20816339-20816919 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:20822883-20823543 Neighboring gene VISTA enhancer hs844 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:20835446-20836154 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17992 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17993 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17994 Neighboring gene VISTA enhancer hs1019 Neighboring gene Sp8 transcription factor Neighboring gene NANOG hESC enhancer GRCh37_chr7:20855921-20856533 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:20866537-20867736 Neighboring gene ribosomal protein L23 pseudogene 8

    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 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. ABCB5 expression and cancer stem cell hypothesis in oral squamous cell carcinoma. Grimm M, et al. Eur J Cancer, 2012 Nov. PMID 22784549
    2. Differential expression of ABCB5 in BRAF inhibitor-resistant melanoma cell lines. Xiao J, et al. BMC Cancer, 2018 Jun 22. PMID 29929490, Free PMC Article
    3. Assessment of the hepatocytic differentiation ability of human skin-derived ABCB5(+) stem cells. Tietze L, et al. Exp Cell Res, 2018 Aug 15. PMID 29864400
    4. ATP-binding cassette member B5 (ABCB5) promotes tumor cell invasiveness in human colorectal cancer. Guo Q, et al. J Biol Chem, 2018 Jul 13. PMID 29789423, Free PMC Article
    5. ABCB5 identifies a therapy-refractory tumor cell population in colorectal cancer patients. Wilson BJ, et al. Cancer Res, 2011 Aug 1. PMID 21652540, Free PMC Article

    See all (77) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of two novel heterodimeric ABC transporters in melanoma: ABCB5beta/B6 and ABCB5beta/B9.
      Title: Identification of two novel heterodimeric ABC transporters in melanoma: ABCB5β/B6 and ABCB5β/B9.
    2. Evaluation of ABCB5 immunostained epithelial stem cells in oral squamous cell carcinoma, inflammatory gingival hyperplasia and normal mucosa.
      Title: Evaluation of ABCB5 immunostained epithelial stem cells in oral squamous cell carcinoma, inflammatory gingival hyperplasia and normal mucosa.
    3. ABCB5[+] mesenchymal stromal cells facilitate complete and durable wound closure in recessive dystrophic epidermolysis bullosa.
      Title: ABCB5(+) mesenchymal stromal cells facilitate complete and durable wound closure in recessive dystrophic epidermolysis bullosa.
    4. Changes in Expression and Function of Placental and Intestinal P-gp and BCRP Transporters during Pregnancy.
      Title: Changes in Expression and Function of Placental and Intestinal P-gp and BCRP Transporters during Pregnancy.
    5. Islet Co-Expression of CD133 and ABCB5 in Human Retinoblastoma Specimens.
      Title: Islet Co-Expression of CD133 and ABCB5 in Human Retinoblastoma Specimens.
    6. Consecutive dosing of UVB irradiation induces loss of ABCB5 expression and activation of EMT and fibrosis proteins in limbal epithelial cells similar to pterygium epithelium.
      Title: Consecutive dosing of UVB irradiation induces loss of ABCB5 expression and activation of EMT and fibrosis proteins in limbal epithelial cells similar to pterygium epithelium.
    7. Expression of the Stem Cell Marker ABCB5 in Normal and Tumor Tissues.
      Title: Expression of the Stem Cell Marker ABCB5 in Normal and Tumor Tissues.
    8. MiR-4282 contributes to inhibit pancreatic cancer metastasis by negatively interacting with ABCB5.
      Title: MiR-4282 contributes to inhibit pancreatic cancer metastasis by negatively interacting with ABCB5.
    9. Genetic variation in ABCB5 associates with risk of hepatocellular carcinoma.
      Title: Genetic variation in ABCB5 associates with risk of hepatocellular carcinoma.
    10. IS THERE A CLINICAL PATHOLOGICAL CORRELATION OF COLORECTAL ADENOCARCINOMA WITH THE IMMUNOHISTOCHEMICAL EXPRESSION OF OPN AND ABCB5?
      Title: IS THERE A CLINICAL PATHOLOGICAL CORRELATION OF COLORECTAL ADENOCARCINOMA WITH THE IMMUNOHISTOCHEMICAL EXPRESSION OF OPN AND ABCB5?
    Submit: New GeneRIF Correction See all GeneRIFs (57)

    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 association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog
    Genome-wide association of lipid-lowering response to statins in combined study populations.
    EBI GWAS Catalog
    Genome-wide association scan of dental caries in the permanent dentition.
    EBI GWAS Catalog
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Treatment of CD4+ and CD8+ T cells with HIV-1 gp120 increases the intracellular expression of P-glycoprotein (P-gp) PubMed

    Go to the HIV-1, Human Interaction Database

    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 xenobiotic transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATPase-coupled transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ATPase-coupled transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables efflux transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in eye development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of membrane potential IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in xenobiotic transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in apical plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    ATP-binding cassette sub-family B member 5
    Names
    ABCB5 P-gp
    ATP-binding cassette protein
    ATP-binding cassette, sub-family B (MDR/TAP), member 5
    P-glycoprotein ABCB5
    NP_001157413.1
    NP_001157414.1
    NP_001157465.1
    NP_848654.3

    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_001163941.2 → NP_001157413.1  ATP-binding cassette sub-family B member 5 isoform 1

      See identical proteins and their annotated locations for NP_001157413.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB353947, AY230001, BC104894
      Consensus CDS
      CCDS55090.1
      UniProtKB/Swiss-Prot
      A4D131, A7BKA4, B5MD19, B7WPL1, F8QQP8, F8QQP9, J3KQ04, Q2M3G0, Q2M3I5, Q5I5Q7, Q5I5Q8, Q6KG50, Q6XFQ5, Q8IXA1
      Related
      ENSP00000384881.2, ENST00000404938.7
      Conserved Domains (3) summary
      cd03249
      Location:386 → 623
      ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
      PTZ00265
      Location:8 → 1251
      PTZ00265; multidrug resistance protein (mdr1); Provisional
      pfam00664
      Location:52 → 333
      ABC_membrane; ABC transporter transmembrane region

    2. NM_001163942.2 → NP_001157414.1  ATP-binding cassette sub-family B member 5 isoform 3

      See identical proteins and their annotated locations for NP_001157414.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' and 3' UTRs and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (3) with a shorter N-terminus and a shorter and distinct C-terminus, compared to variant 1. This variant (3) is the mRNA isoform alpha as described in PMID 15760339.
      Source sequence(s)
      AC002486, AL040763, BC044248, BM471690, BX452500
      Consensus CDS
      CCDS55091.1
      Related
      ENSP00000406730.2, ENST00000443026.6
      Conserved Domains (2) summary
      COG1132
      Location:1 → 124
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
      cl21455
      Location:1 → 124
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    3. NM_001163993.3 → NP_001157465.1  ATP-binding cassette sub-family B member 5 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' and 3' UTRs and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (4) with a shorter N-terminus and a shorter and distinct C-terminus, compared to variant 1.
      Source sequence(s)
      AC002486, AC005060, AI334015, BC110370, KF454880
      Consensus CDS
      CCDS55092.1
      UniProtKB/Swiss-Prot
      Q2M3G0
      Related
      ENSP00000383899.1, ENST00000406935.5
      Conserved Domains (2) summary
      COG1132
      Location:1 → 125
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
      cl21455
      Location:1 → 124
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    4. NM_178559.6 → NP_848654.3  ATP-binding cassette sub-family B member 5 isoform 2

      See identical proteins and their annotated locations for NP_848654.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to variant 1. This variant (2) is the mRNA isoform beta as described in PMID 15760339.
      Source sequence(s)
      AC002486, AY230001, BC104894, BC110370
      Consensus CDS
      CCDS5371.1
      UniProtKB/TrEMBL
      A0A6M3QJP3
      Related
      ENSP00000258738.6, ENST00000258738.10
      Conserved Domains (3) summary
      cd03249
      Location:571 → 809
      ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
      COG1132
      Location:232 → 810
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
      cl25403
      Location:1 → 178
      ABC_ATPase; ATP-binding cassette transporter nucleotide-binding domain

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      20615667..20757008
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      20750588..20892996
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2M3G0.4 GenPept UniProtKB/Swiss-Prot:Q2M3G0

    Gene LinkOut

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

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