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

Gene ID: 340273, updated on 11-Apr-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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Location:
7p21.1
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (20615667..20757008)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (20750588..20892996)
105.20220307 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
  • 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. 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. Domdey M, et al. Stem Cell Res, 2022 Oct. PMID 36242878, Free PMC Article
  2. IS THERE A CLINICAL PATHOLOGICAL CORRELATION OF COLORECTAL ADENOCARCINOMA WITH THE IMMUNOHISTOCHEMICAL EXPRESSION OF OPN AND ABCB5? Castoldi DF, et al. Arq Bras Cir Dig, 2021. PMID 33759959, Free PMC Article
  3. Genetic variation in ABCB5 associates with risk of hepatocellular carcinoma. Leung IC, et al. J Cell Mol Med, 2020 Sep. PMID 32783366, Free PMC Article
  4. Targeting the ABC transporter ABCB5 sensitizes glioblastoma to temozolomide-induced apoptosis through a cell-cycle checkpoint regulation mechanism. Lee CAA, et al. J Biol Chem, 2020 May 29. PMID 32317280, Free PMC Article
  5. Wnt/IL-1β/IL-8 autocrine circuitries control chemoresistance in mesothelioma initiating cells by inducing ABCB5. Milosevic V, et al. Int J Cancer, 2020 Jan 1. PMID 31107974

See all (70) 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 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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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_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_2023_10

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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