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

Gene ID: 340273, updated on 2-Mar-2021

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
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
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Genomic context

See ABCB5 in Genome Data Viewer
Location:
7p21.1
Exon count:
31
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (20615667..20757008)
105.20201022 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 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
GeneReviews: Not available
Genome-wide association of lipid-lowering response to statins in combined study populations.
GeneReviews: Not available
Genome-wide association scan of dental caries in the permanent dentition.
GeneReviews: Not available
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
GeneReviews: Not available

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

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
 
ATPase activity IEA
Inferred from Electronic Annotation
more info
 
ATPase-coupled transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
efflux transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
eye development ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of membrane potential IDA
Inferred from Direct Assay
more info
PubMed 
transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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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_001163941.2NP_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
    Q2M3G0
    Related
    ENSP00000384881.2, ENST00000404938.6
    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_001163942.2NP_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
    UniProtKB/Swiss-Prot
    Q2M3G0
    UniProtKB/TrEMBL
    A0A024RA03
    Related
    ENSP00000406730.2, ENST00000443026.6
    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_001163993.3NP_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: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_178559.6NP_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/Swiss-Prot
    Q2M3G0
    Related
    ENSP00000258738.6, ENST00000258738.10
    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 Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    20615667..20757008
    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
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