Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 340273, updated on 5-Aug-2018

    Summary

    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; Vega:OTTHUMG00000094789
    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

    Genomic context

    See ABCB5 in Genome Data Viewer
    Location:
    7p21.1
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (20615622..20757014)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (20655245..20796637)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 27 Neighboring gene v-ral simian leukemia viral oncogene homolog A (ras related) pseudogene Neighboring gene VISTA enhancer hs844 Neighboring gene Sp8 transcription factor

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from BioSystems

    • ABC transporters, organism-specific biosystem (from KEGG)
      ABC transporters, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
    • ABC transporters, conserved biosystem (from KEGG)
      ABC transporters, conserved biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
    • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
      ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    efflux transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    xenobiotic transmembrane transporting ATPase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    compound eye corneal lens development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    drug transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of membrane potential IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    xenobiotic transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    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
    XP_011513669.1

    NCBI Reference Sequences (RefSeq)

    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_001163941.1NP_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, AC002486, AY230001, BC104894, H99394
      Consensus CDS
      CCDS55090.1
      UniProtKB/Swiss-Prot
      Q2M3G0
      Related
      ENSP00000384881.2, OTTHUMP00000201940, ENST00000404938.6, OTTHUMT00000326736
      Conserved Domains (3) summary
      cd03249
      Location:386623
      ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
      PTZ00265
      Location:81251
      PTZ00265; multidrug resistance protein (mdr1); Provisional
      pfam00664
      Location:52333
      ABC_membrane; ABC transporter transmembrane region
    2. NM_001163942.1NP_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)
      AL040763, BC044248, BM471690, BX452500
      Consensus CDS
      CCDS55091.1
      UniProtKB/Swiss-Prot
      Q2M3G0
      UniProtKB/TrEMBL
      A0A024RA03
      Related
      ENSP00000406730.2, OTTHUMP00000201814, ENST00000443026.6, OTTHUMT00000326471
      Conserved Domains (2) summary
      COG1132
      Location:1124
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
      cl21455
      Location:1124
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    3. NM_001163993.2NP_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)
      AC005060, AI334015, BC110370, KF454880
      Consensus CDS
      CCDS55092.1
      UniProtKB/Swiss-Prot
      Q2M3G0
      Related
      ENSP00000383899.1, OTTHUMP00000201813, ENST00000406935.5, OTTHUMT00000326470
      Conserved Domains (2) summary
      COG1132
      Location:1125
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
      cl21455
      Location:1124
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    4. NM_178559.5NP_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)
      AY230001, BC104894, BC110370, H99394
      Consensus CDS
      CCDS5371.1
      UniProtKB/Swiss-Prot
      Q2M3G0
      Related
      ENSP00000258738.6, OTTHUMP00000120018, ENST00000258738.10, OTTHUMT00000211603
      Conserved Domains (3) summary
      cd03249
      Location:571809
      ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
      COG1132
      Location:232810
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
      cl25403
      Location:1178
      ABC_ATPase; ATP-binding cassette transporter nucleotide-binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

      Range
      20615622..20757014
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515367.2XP_011513669.1  ATP-binding cassette sub-family B member 5 isoform X1

      See identical proteins and their annotated locations for XP_011513669.1

      UniProtKB/Swiss-Prot
      Q2M3G0
      Conserved Domains (3) summary
      cd03249
      Location:571809
      ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
      COG1132
      Location:232810
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
      cl25403
      Location:1178
      ABC_ATPase; ATP-binding cassette transporter nucleotide-binding domain
    Support Center