ABCG1 ATP binding cassette subfamily G member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ABCG1provided by HGNC
Official Full Name: ATP binding cassette subfamily G member 1provided by HGNC
Primary source: HGNC:HGNC:73
See related: Ensembl:ENSG00000160179 MIM:603076; AllianceGenome:HGNC:73
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: ABC8; WHITE1
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. It is involved in macrophage cholesterol and phospholipids transport, and may regulate cellular lipid homeostasis in other cell types. Six alternative splice variants have been identified. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in spleen (RPKM 7.0), adrenal (RPKM 5.6) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 21q22.3

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (42199689..42297244)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (40589747..40686722)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (43619799..43717354)

Chromosome 21 - NC_000021.9 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 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?

Diagnostic and prognostic value of ABC transporter family member ABCG1 gene in clear cell renal cell carcinoma.
Title: Diagnostic and prognostic value of ABC transporter family member ABCG1 gene in clear cell renal cell carcinoma.
The role of ATP-binding cassette transporter G1 (ABCG1) in Alzheimer's disease: A review of the mechanisms.
Title: The role of ATP-binding cassette transporter G1 (ABCG1) in Alzheimer's disease: A review of the mechanisms.
A new perspective on the current and future development potential of ABCG1.
Title: A new perspective on the current and future development potential of ABCG1.
DNA Methylation at ABCG1 and Long-term Changes in Adiposity and Fat Distribution in Response to Dietary Interventions: The POUNDS Lost Trial.
Title: DNA Methylation at ABCG1 and Long-term Changes in Adiposity and Fat Distribution in Response to Dietary Interventions: The POUNDS Lost Trial.
ABCG1 is Expressed in an LXR-Independent Manner in Patients with Type 2 Diabetes Mellitus.
Title: ABCG1 is Expressed in an LXR-Independent Manner in Patients with Type 2 Diabetes Mellitus.
Hypomethylation of ABCG1 in peripheral blood as a potential marker for the detection of coronary heart disease.
Title: Hypomethylation of ABCG1 in peripheral blood as a potential marker for the detection of coronary heart disease.
Multi-omics analysis identifies rare variation in leptin/PPAR gene sets and hypermethylation of ABCG1 contribute to antipsychotics-induced metabolic syndromes.
Title: Multi-omics analysis identifies rare variation in leptin/PPAR gene sets and hypermethylation of ABCG1 contribute to antipsychotics-induced metabolic syndromes.
High nuclear ABCG1 expression is a poor predictor for hepatocellular carcinoma patient survival.
Title: High nuclear ABCG1 expression is a poor predictor for hepatocellular carcinoma patient survival.
Genetic variations in ABCA1/G1 associated with plasma lipid levels and risk of ischemic stroke.
Title: Genetic variations in ABCA1/G1 associated with plasma lipid levels and risk of ischemic stroke.
Expression of ABC transporters during syncytialization in preeclampsia.
Title: Expression of ABC transporters during syncytialization in preeclampsia.

Submit: New GeneRIF Correction See all GeneRIFs (150)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Web-based, participant-driven studies yield novel genetic associations for common traits. 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

STS_CEB276 (e-PCR)
- UniSTS:255266

G20514 (e-PCR)
- UniSTS:11182

A005U31 (e-PCR)
- UniSTS:11183

D21S1225 (e-PCR)
- UniSTS:11466

RH120041 (e-PCR)
- UniSTS:133365

SHGC-87665 (e-PCR)
- UniSTS:55548

SHGC-111166 (e-PCR)
- UniSTS:168190

G34692 (e-PCR)
- UniSTS:12543

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ABC-type sterol transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables ABC-type sterol transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables ADP binding	IDA Inferred from Direct Assay more info	PubMed
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables cholesterol binding	IC Inferred by Curator more info	PubMed
enables cholesterol transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables floppase activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylcholine floppase activity	IDA Inferred from Direct Assay more info	PubMed
enables phospholipid binding	IC Inferred by Curator more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables toxin transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in amyloid precursor protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to high density lipoprotein particle stimulus	IEA Inferred from Electronic Annotation more info
involved_in cholesterol efflux	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol efflux	IDA Inferred from Direct Assay 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	IDA Inferred from Direct Assay more info	PubMed
involved_in cholesterol homeostasis	IEP Inferred from Expression Pattern more info	PubMed
involved_in cholesterol metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glycoprotein transport	IDA Inferred from Direct Assay more info	PubMed
involved_in high-density lipoprotein particle remodeling	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in intracellular cholesterol transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid translocation	IEA Inferred from Electronic Annotation more info
involved_in low-density lipoprotein particle remodeling	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of cholesterol storage	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of macrophage derived foam cell differentiation	TAS Traceable Author Statement more info	PubMed
involved_in phospholipid efflux	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phospholipid homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of amyloid-beta formation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cholesterol biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cholesterol efflux	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cholesterol metabolic process	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in response to lipid	IDA Inferred from Direct Assay more info	PubMed
involved_in reverse cholesterol transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	HDA more info	PubMed
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in endosome	ISS Inferred from Sequence or Structural Similarity more info
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	HDA more info	PubMed
is_active_in plasma 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
located_in recycling endosome	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: ATP-binding cassette sub-family G member 1

Names: ABC transporter 8; ATP-binding cassette transporter 8; ATP-binding cassette transporter member 1 of subfamily G; ATP-binding cassette, sub-family G (WHITE), member 1; homolog of Drosophila white; white protein homolog (ATP-binding cassette transporter 8)

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_004915.4 → NP_004906.3 ATP-binding cassette sub-family G member 1 isoform 4

See identical proteins and their annotated locations for NP_004906.3

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' end-region compared to variant 1, which includes a part of the coding region. The resulting isoform (4) has a distinct and shorter N-terminus, as compared to isoform 1.

Source sequence(s)

AP001622, BC029158, U34919, X91249

Consensus CDS

CCDS13682.1

UniProtKB/Swiss-Prot

P45844, Q86SU8, Q96L76, Q9BXK6, Q9BXK7, Q9BXK8, Q9BXK9, Q9BXL0, Q9BXL1, Q9BXL2, Q9BXL3, Q9BXL4

UniProtKB/TrEMBL

A8K7Y7

Related

ENSP00000354995.2, ENST00000361802.7

Conserved Domains (1) summary

TIGR00955
Location:60 → 678

3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
NM_016818.3 → NP_058198.2 ATP-binding cassette sub-family G member 1 isoform 2

See identical proteins and their annotated locations for NP_058198.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' end-region compared to variant 1, which includes a part of the coding region. The resulting isoform (2) has a distinct and shorter N-terminus, as compared to isoform 1.

Source sequence(s)

AP001622, BC029158, X91249

Consensus CDS

CCDS42938.1

UniProtKB/TrEMBL

A8K7Y7

Related

ENSP00000381467.3, ENST00000398449.8

Conserved Domains (1) summary

TIGR00955
Location:60 → 666

3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
NM_207174.1 → NP_997057.1 ATP-binding cassette sub-family G member 1 isoform 3

See identical proteins and their annotated locations for NP_997057.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' end-region compared to variant 1, which includes a part of the coding region. The resulting isoform (3) has a distinct and shorter N-terminus, as compared to isoform 1.

Source sequence(s)

AF323664, BC029158, X91249

Consensus CDS

CCDS13683.1

UniProtKB/TrEMBL

B4DPT7

Related

ENSP00000339744.3, ENST00000343687.7

Conserved Domains (3) summary

cd03213
Location:85 → 310

ABCG_EPDR; Eye pigment and drug resistance transporter subfamily G of the ATP-binding cassette superfamily

TIGR00955
Location:71 → 677

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

pfam01061
Location:407 → 609

ABC2_membrane; ABC-2 type transporter
NM_207627.2 → NP_997510.1 ATP-binding cassette sub-family G member 1 isoform 5

See identical proteins and their annotated locations for NP_997510.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' end-region compared to variant 1, which includes a part of the coding region. The resulting isoform (5) has a distinct and shorter N-terminus, as compared to isoform 1.

Source sequence(s)

AF323660, BC029158, X91249

Consensus CDS

CCDS42937.1

UniProtKB/TrEMBL

A8K7Y7

Related

ENSP00000381475.2, ENST00000398457.6

Conserved Domains (3) summary

cd03213
Location:76 → 301

ABCG_EPDR; Eye pigment and drug resistance transporter subfamily G of the ATP-binding cassette superfamily

TIGR00955
Location:62 → 668

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

pfam01061
Location:398 → 600

ABC2_membrane; ABC-2 type transporter
NM_207628.1 → NP_997511.1 ATP-binding cassette sub-family G member 1 isoform 6

See identical proteins and their annotated locations for NP_997511.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' end-region compared to variant 1, which includes a part of the coding region. The resulting isoform (6) has a distinct and shorter N-terminus, as compared to isoform 1.

Source sequence(s)

AF323661, BC029158, X91249

UniProtKB/TrEMBL

A8K7Y7

Related

ENST00000462050.5

Conserved Domains (3) summary

cd03213
Location:52 → 277

ABCG_EPDR; Eye pigment and drug resistance transporter subfamily G of the ATP-binding cassette superfamily

TIGR00955
Location:38 → 644

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

pfam01061
Location:374 → 576

ABC2_membrane; ABC-2 type transporter
NM_207629.2 → NP_997512.1 ATP-binding cassette sub-family G member 1 isoform 7

See identical proteins and their annotated locations for NP_997512.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' end-region compared to variant 1, which includes a part of the coding region. The resulting isoform (7) has a distinct and shorter N-terminus, as compared to isoform 1.

Source sequence(s)

AF323662, BC029158, X91249

Consensus CDS

CCDS13681.1

UniProtKB/TrEMBL

A8K7Y7

Related

ENSP00000291524.4, ENST00000347800.6

Conserved Domains (3) summary

cd03213
Location:71 → 296

ABCG_EPDR; Eye pigment and drug resistance transporter subfamily G of the ATP-binding cassette superfamily

TIGR00955
Location:57 → 663

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

pfam01061
Location:393 → 595

ABC2_membrane; ABC-2 type transporter

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000021.9 Reference GRCh38.p14 Primary Assembly

Range

42199689..42297244

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047441054.1 → XP_047297010.1 ATP-binding cassette sub-family G member 1 isoform X4
XM_047441055.1 → XP_047297011.1 ATP-binding cassette sub-family G member 1 isoform X5
XM_011529807.4 → XP_011528109.1 ATP-binding cassette sub-family G member 1 isoform X2

UniProtKB/TrEMBL

B4DPT7

Conserved Domains (3) summary

cd03213
Location:85 → 310

ABCG_EPDR; Eye pigment and drug resistance transporter subfamily G of the ATP-binding cassette superfamily

COG1136
Location:88 → 305

LolD; ABC-type lipoprotein export system, ATPase component [Cell wall/membrane/envelope biogenesis]

pfam01061
Location:419 → 578

ABC2_membrane; ABC-2 type transporter
XM_011529806.2 → XP_011528108.1 ATP-binding cassette sub-family G member 1 isoform X1

See identical proteins and their annotated locations for XP_011528108.1

UniProtKB/TrEMBL

B4DPT7

Conserved Domains (3) summary

cd03213
Location:85 → 310

ABCG_EPDR; Eye pigment and drug resistance transporter subfamily G of the ATP-binding cassette superfamily

TIGR00955
Location:71 → 689

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

pfam01061
Location:419 → 621

ABC2_membrane; ABC-2 type transporter
XM_047441053.1 → XP_047297009.1 ATP-binding cassette sub-family G member 1 isoform X3
XM_024452141.2 → XP_024307909.1 ATP-binding cassette sub-family G member 1 isoform X6

UniProtKB/TrEMBL

E9PGV9

Related

ENSP00000381464.1, ENST00000398437.1

Conserved Domains (1) summary

TIGR00955
Location:202 → 786

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

Alternate T2T-CHM13v2.0

Genomic

NC_060945.1 Alternate T2T-CHM13v2.0

Range

40589747..40686722

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054324965.1 → XP_054180940.1 ATP-binding cassette sub-family G member 1 isoform X4
XM_054324966.1 → XP_054180941.1 ATP-binding cassette sub-family G member 1 isoform X5
XM_054324963.1 → XP_054180938.1 ATP-binding cassette sub-family G member 1 isoform X2
XM_054324962.1 → XP_054180937.1 ATP-binding cassette sub-family G member 1 isoform X1
XM_054324964.1 → XP_054180939.1 ATP-binding cassette sub-family G member 1 isoform X3
XM_054324967.1 → XP_054180942.1 ATP-binding cassette sub-family G member 1 isoform X6

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_207630.1: Suppressed sequence

Description

NM_207630.1: This RefSeq was permanently suppressed because it has a non-consensus splice site that does not have enough supporting evidence.