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

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; 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

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
Islet Co-Expression of CD133 and ABCB5 in Human Retinoblastoma Specimens.
Title: Islet Co-Expression of CD133 and ABCB5 in Human Retinoblastoma Specimens.
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.
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.
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.
Genetic variation in ABCB5 associates with risk of hepatocellular carcinoma.
Title: Genetic variation in ABCB5 associates with risk of hepatocellular carcinoma.
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 EBI GWAS CatalogPubMed
Genome-wide association of lipid-lowering response to statins in combined study populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association scan of dental caries in the permanent dentition. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

RH78896 (e-PCR)
- UniSTS:75521

STS-N32998 (e-PCR)
- UniSTS:76290

SHGC-83158 (e-PCR)
- UniSTS:95774

GDB:1317506 (e-PCR)
- UniSTS:36384

SHGC-53299 (e-PCR)
- UniSTS:559

D8S2279 (e-PCR)
- UniSTS:473907

RH103777 (e-PCR)
- UniSTS:98102

SHGC-79232 (e-PCR)
- UniSTS:102763

D10S16 (e-PCR)
- UniSTS:155756

RH78897 (e-PCR)
- UniSTS:629

D1S1425 (e-PCR)
- UniSTS:149621

RH68947 (e-PCR)
- UniSTS:35982

D11S3114 (e-PCR)
- UniSTS:152207

RH102833 (e-PCR)
- UniSTS:97167

D16S325 (e-PCR)
- UniSTS:147089

GDB:1318030 (e-PCR)
- UniSTS:39619

SHGC-106581 (e-PCR)
- UniSTS:169941

G49164 (e-PCR)
- UniSTS:96219

D7S1802 (e-PCR), detects polymorphism
- UniSTS:4082

STS-H98780 (e-PCR)
- UniSTS:74994

D7S2210 (e-PCR)
- UniSTS:4348

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

EC 7.6.2.2

NP_001157414.1

EC 7.6.2.2

NP_001157465.1

EC 7.6.2.2

NP_848654.3

EC 7.6.2.2

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)

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
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
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
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