ABCG5 ATP binding cassette subfamily G member 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ABCG5provided by HGNC
Official Full Name: ATP binding cassette subfamily G member 5provided by HGNC
Primary source: HGNC:HGNC:13886
See related: Ensembl:ENSG00000138075 MIM:605459; AllianceGenome:HGNC:13886
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: STSL; STSL2
Summary: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]
Expression: Biased expression in duodenum (RPKM 25.9), small intestine (RPKM 24.3) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 2p21

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (43806211..43839231, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (43810586..43844196, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (44039611..44065978, complement)

Chromosome 2 - NC_000002.12 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?

Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment.
Title: Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment.
Plasma campesterol and ABCG5/ABCG8 gene loci on the risk of cholelithiasis and cholecystitis: evidence from Mendelian randomization and colocalization analyses.
Title: Plasma campesterol and ABCG5/ABCG8 gene loci on the risk of cholelithiasis and cholecystitis: evidence from Mendelian randomization and colocalization analyses.
Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in ABCG5.
Title: Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in ABCG5.
Structural Analysis of Cholesterol Binding and Sterol Selectivity by ABCG5/G8.
Title: Structural Analysis of Cholesterol Binding and Sterol Selectivity by ABCG5/G8.
Screening of ABCG5 and ABCG8 Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program.
Title: Screening of ABCG5 and ABCG8 Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program.
The Complex ABCG5/ABCG8 Regulates Vitamin D Absorption Rate and Contributes to its Efflux from the Intestine.
Title: The Complex ABCG5/ABCG8 Regulates Vitamin D Absorption Rate and Contributes to its Efflux from the Intestine.
Recent advances in ABCG5 and ABCG8 variants.
Title: Recent advances in ABCG5 and ABCG8 variants.
ABCG5 and ABCG8 gene variations associated with sitosterolemia and platelet dysfunction.
Title: ABCG5 and ABCG8 gene variations associated with sitosterolemia and platelet dysfunction.
NF-kappaB Regulation of LRH-1 and ABCG5/8 Potentiates Phytosterol Role in the Pathogenesis of Parenteral Nutrition-Associated Cholestasis.
Title: NF-κB Regulation of LRH-1 and ABCG5/8 Potentiates Phytosterol Role in the Pathogenesis of Parenteral Nutrition-Associated Cholestasis.
Heterozygous ABCG5 Gene Deficiency and Risk of Coronary Artery Disease.
Title: Heterozygous ABCG5 Gene Deficiency and Risk of Coronary Artery Disease.

Submit: New GeneRIF Correction See all GeneRIFs (87)

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

Associated conditions

Description	Tests
Sitosterolemia 2 MedGen: C5231453 OMIM: 618666 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2S1788 (e-PCR)
- UniSTS:6210

ABCG5_2000 (e-PCR)
- UniSTS:280426

D2S1352 (e-PCR)
- UniSTS:60556

RH27092 (e-PCR)
- UniSTS:84376

RH70519 (e-PCR)
- UniSTS:26791

RH70461 (e-PCR)
- UniSTS:74975

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ABC-type transporter activity	IEA Inferred from Electronic Annotation more info
contributes_to ATP binding	IDA Inferred from Direct Assay more info	PubMed
contributes_to ATP hydrolysis activity	IDA Inferred from Direct Assay more info	PubMed
enables ATPase-coupled transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATPase-coupled transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to cholesterol transfer activity	IGI Inferred from Genetic Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in bile acid signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cholesterol efflux	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol efflux	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cholesterol efflux	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intestinal cholesterol absorption	IC Inferred by Curator more info	PubMed
involved_in negative regulation of intestinal cholesterol absorption	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of intestinal phytosterol absorption	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to ionizing radiation	IEA Inferred from Electronic Annotation more info
involved_in response to muscle activity	IEA Inferred from Electronic Annotation more info
involved_in response to nutrient	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in sterol transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in triglyceride homeostasis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of ATP-binding cassette (ABC) transporter complex	IBA Inferred from Biological aspect of Ancestor more info
part_of ATP-binding cassette (ABC) transporter complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in apical plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ATP-binding cassette sub-family G member 5

Names: ATP-binding cassette, sub-family G (WHITE), member 5; sterolin 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.

Genomic

NG_008883.1 RefSeqGene

Range

4981..31348

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1181

mRNA and Protein(s)

NM_022436.3 → NP_071881.1 ATP-binding cassette sub-family G member 5

See identical proteins and their annotated locations for NP_071881.1

Status: REVIEWED

Source sequence(s)

AC108476, AF312715

Consensus CDS

CCDS1814.1

UniProtKB/Swiss-Prot

Q2T9G2, Q96QZ2, Q96QZ3, Q9H222

UniProtKB/TrEMBL

Q53QN9

Related

ENSP00000384513.2, ENST00000405322.8

Conserved Domains (2) summary

cd03234
Location:50 → 275

ABCG_White; White pigment protein homolog of ABCG transporter subfamily

TIGR00955
Location:60 → 645

3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein

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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

43806211..43839231 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006712073.4 → XP_006712136.1 ATP-binding cassette sub-family G member 5 isoform X2

UniProtKB/TrEMBL

Q53QN9

Conserved Domains (3) summary

cd03234
Location:50 → 275

ABCG_White; White pigment protein homolog of ABCG transporter subfamily

COG1122
Location:66 → 286

EcfA2; Energy-coupling factor transporter ATP-binding protein EcfA2 [Inorganic ion transport and metabolism, General function prediction only]

pfam01061
Location:371 → 578

ABC2_membrane; ABC-2 type transporter
XM_047445410.1 → XP_047301366.1 ATP-binding cassette sub-family G member 5 isoform X7
XM_047445409.1 → XP_047301365.1 ATP-binding cassette sub-family G member 5 isoform X3
XM_011533026.3 → XP_011531328.1 ATP-binding cassette sub-family G member 5 isoform X4

UniProtKB/TrEMBL

Q53QN9

Conserved Domains (3) summary

TIGR00955
Location:60 → 555

3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein

pfam01061
Location:281 → 488

ABC2_membrane; ABC-2 type transporter

cl21455
Location:50 → 211

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
XM_011533024.3 → XP_011531326.1 ATP-binding cassette sub-family G member 5 isoform X1

UniProtKB/TrEMBL

Q53QN9

Conserved Domains (3) summary

cd03234
Location:50 → 275

ABCG_White; White pigment protein homolog of ABCG transporter subfamily

TIGR00955
Location:60 → 600

3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein

pfam01061
Location:395 → 533

ABC2_membrane; ABC-2 type transporter
XM_005264480.5 → XP_005264537.1 ATP-binding cassette sub-family G member 5 isoform X5

UniProtKB/TrEMBL

Q53QN9

Conserved Domains (3) summary

cd03234
Location:50 → 275

ABCG_White; White pigment protein homolog of ABCG transporter subfamily

COG1122
Location:66 → 286

EcfA2; Energy-coupling factor transporter ATP-binding protein EcfA2 [Inorganic ion transport and metabolism, General function prediction only]

pfam01061
Location:371 → 549

ABC2_membrane; ABC-2 type transporter
XM_011533025.4 → XP_011531327.1 ATP-binding cassette sub-family G member 5 isoform X3

UniProtKB/TrEMBL

Q53QN9

Conserved Domains (3) summary

cd03234
Location:1 → 194

ABCG_White; White pigment protein homolog of ABCG transporter subfamily

TIGR00955
Location:1 → 564

3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein

pfam01061
Location:290 → 497

ABC2_membrane; ABC-2 type transporter
XM_011533027.4 → XP_011531329.1 ATP-binding cassette sub-family G member 5 isoform X6

Conserved Domains (2) summary

pfam01061
Location:200 → 407

ABC2_membrane; ABC-2 type transporter

cl21455
Location:2 → 104

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
XM_047445411.1 → XP_047301367.1 ATP-binding cassette sub-family G member 5 isoform X8

Related

ENST00000644754.1
XM_011533028.3 → XP_011531330.1 ATP-binding cassette sub-family G member 5 isoform X9

Conserved Domains (1) summary

pfam01061
Location:92 → 299

ABC2_membrane; ABC-2 type transporter
XM_006712074.4 → XP_006712137.1 ATP-binding cassette sub-family G member 5 isoform X10

Conserved Domains (2) summary

cd03234
Location:50 → 275

ABCG_White; White pigment protein homolog of ABCG transporter subfamily

COG1122
Location:66 → 286

EcfA2; Energy-coupling factor transporter ATP-binding protein EcfA2 [Inorganic ion transport and metabolism, General function prediction only]

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

43810586..43844196 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054343355.1 → XP_054199330.1 ATP-binding cassette sub-family G member 5 isoform X7
XM_054343351.1 → XP_054199326.1 ATP-binding cassette sub-family G member 5 isoform X2
XM_054343356.1 → XP_054199331.1 ATP-binding cassette sub-family G member 5 isoform X8
XM_054343352.1 → XP_054199327.1 ATP-binding cassette sub-family G member 5 isoform X3
XM_054343353.1 → XP_054199328.1 ATP-binding cassette sub-family G member 5 isoform X4
XM_054343350.1 → XP_054199325.1 ATP-binding cassette sub-family G member 5 isoform X1
XM_054343354.1 → XP_054199329.1 ATP-binding cassette sub-family G member 5 isoform X5
XM_054343357.1 → XP_054199332.1 ATP-binding cassette sub-family G member 5 isoform X9
XM_054343358.1 → XP_054199333.1 ATP-binding cassette sub-family G member 5 isoform X10