1. Gene
  2. ABCB5 - ATP binding cassette subfamily B member 5 Gene

ABCB5 - ATP binding cassette subfamily B member 5 Gene

Homo sapiens

Also known as ABCB5beta; EST422562; ABCB5alpha

Gene ID: 340273 | Gene type: protein coding

About ABCB5

Cytogenetic location: 7p21.1 Genomic coordinates (GRCh38): 7:20,615,667-20,757,008 (from NCBI)

This gene has 6 transcripts (splice variants), 136 orthologues and 10 paralogues. Low expression observed in reference dataset.

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]

ABCB5 Products(4)

mRNA Protein Name
NM_001163941.2 NP_001157413.1 ATP-binding cassette sub-family B member 5 isoform 1
NM_001163942.2 NP_001157414.1 ATP-binding cassette sub-family B member 5 isoform 3
NM_001163993.3 NP_001157465.1 ATP-binding cassette sub-family B member 5 isoform 4
NM_178559.6 NP_848654.3 ATP-binding cassette sub-family B member 5 isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables efflux transmembrane transporter activity IDA
IDA: Inferred from direct assay
12960149 GOA
Biological Process GO Annotation Evidence Reference Source
involved in regulation of membrane potential IDA
IDA: Inferred from direct assay
12960149 GOA
involved in transmembrane transport IDA
IDA: Inferred from direct assay
12960149 GOA
Cellular Component GO Annotation Evidence Reference Source
located in plasma membrane IDA
IDA: Inferred from direct assay
12960149 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ABCB5 Protein Structure

ABC_membrane

ABC_membrane: ABC transporter transmembrane region (48 - 334)

ABC_tran

ABC_tran: ABC transporter (404 - 553)

ABC_membrane

ABC_membrane: ABC transporter transmembrane region (693 - 967)

ABC_tran

ABC_tran: ABC transporter (1033 - 1184)

  • 0
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  • 800
  • 1000
  • 1257 a.a.
Protein Preferred Names Protein Names

ATP-binding cassette sub-family B member 5

ABCB5 P-gp

Recombinant ABCB5 Proteins

Cat. No. Product Name Accession Purity
HY-P7621 ABCB5 Protein, Human (Trx) Q2M3G0-4 (I586-V692) ≥95%

Related Diseases

Diseases Alias
Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas

Conjunctival Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Conjunctiva

Conjunctival Epidermoid Carcinoma

Invasive Squamous Cell Carcinoma Of The Conjunctiva

Ocular Surface Squamous Neoplasia

Cardiomyopathy, Dilated, 1o

Dilated Cardiomyopathy 1o

CMD1O

Dilated Cardiomyopathy With Ventricular Tachycardia

Cardiomyopathy, Dilated, With Ventricular Tachycardia

Cardiomyopathy, Dilated 1o

Cardiomyopathy, Dilated, Type 1o

Recessive Dystrophic Epidermolysis Bullosa

Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis

Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type

Rdeb, Hallopeau-Siemens Type

Severe Generalized Rdeb

Severe Generalized Recessive Dystrophic Epidermolysis Bullosa

Rdeb Generalisata Gravis

Rdeb, Severe Generalized

Rdeb-Sev Gen

Recessive Dystrophic Epidermolysis Bullosa, Severe Generalized

Hallopeau-Siemens Disease

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris ABCB5 VGNC VGNC:49905
Felis catus ABCB5 VGNC VGNC:69335
Mus musculus ABCB5 MGD MGI:1924956
Macaca mulatta ABCB5 VGNC VGNC:80321
Bos taurus ABCB5 VGNC VGNC:25464
Rattus norvegicus ABCB5 RGD RGD:1566342
Others ABCB5 NCBI