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

Gene ID: 9619, updated on 5-May-2024

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See ABCG1 in Genome Data Viewer
Location:
21q22.3
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (42199689..42297244)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (40589747..40686722)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (43619799..43717354)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43461111-43461614 Neighboring gene uncharacterized LOC107985502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43463997-43464496 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43479981-43480564 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43480565-43481148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18501 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18502 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:43487460-43488014 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43492613-43493114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43493115-43493614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43495709-43496210 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43496211-43496710 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:43501841-43502776 Neighboring gene uromodulin like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43513487-43513992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43523509-43524067 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43524068-43524625 Neighboring gene Sharpr-MPRA regulatory region 15350 Neighboring gene UMODL1 antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:43540119-43540824 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43541661-43542598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43542599-43543535 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43544863-43545636 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43545637-43546408 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18505 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43613112-43613612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43628760-43629260 Neighboring gene uncharacterized LOC105372814 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43640159-43640690 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18507 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18508 Neighboring gene RNA, 5S ribosomal pseudogene 492 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13339 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13340 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18509 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43681218-43681718 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62106 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18510 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13341 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43726767-43727266 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:43732190-43733186 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43736619-43737238 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43737239-43737857 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:43740112-43740766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43741168-43741668 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr21:43755987-43756488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43757967-43758662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18511 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18512 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:43763551-43764050 Neighboring gene trefoil factor 3 Neighboring gene trefoil factor 2

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

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC34313

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 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 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

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)

NEW Try the new Transcript table

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_004915.4NP_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, ENST00000361802.6
    Conserved Domains (1) summary
    TIGR00955
    Location:60678
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
  2. NM_016818.3NP_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:60666
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
  3. NM_207174.1NP_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:85310
    ABCG_EPDR; Eye pigment and drug resistance transporter subfamily G of the ATP-binding cassette superfamily
    TIGR00955
    Location:71677
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
    pfam01061
    Location:407609
    ABC2_membrane; ABC-2 type transporter
  4. NM_207627.2NP_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:76301
    ABCG_EPDR; Eye pigment and drug resistance transporter subfamily G of the ATP-binding cassette superfamily
    TIGR00955
    Location:62668
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
    pfam01061
    Location:398600
    ABC2_membrane; ABC-2 type transporter
  5. NM_207628.1NP_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:52277
    ABCG_EPDR; Eye pigment and drug resistance transporter subfamily G of the ATP-binding cassette superfamily
    TIGR00955
    Location:38644
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
    pfam01061
    Location:374576
    ABC2_membrane; ABC-2 type transporter
  6. NM_207629.2NP_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:71296
    ABCG_EPDR; Eye pigment and drug resistance transporter subfamily G of the ATP-binding cassette superfamily
    TIGR00955
    Location:57663
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
    pfam01061
    Location:393595
    ABC2_membrane; ABC-2 type transporter

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

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    42199689..42297244
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047441054.1XP_047297010.1  ATP-binding cassette sub-family G member 1 isoform X4

  2. XM_047441055.1XP_047297011.1  ATP-binding cassette sub-family G member 1 isoform X5

  3. XM_011529807.4XP_011528109.1  ATP-binding cassette sub-family G member 1 isoform X2

    UniProtKB/TrEMBL
    B4DPT7
    Conserved Domains (3) summary
    cd03213
    Location:85310
    ABCG_EPDR; Eye pigment and drug resistance transporter subfamily G of the ATP-binding cassette superfamily
    COG1136
    Location:88305
    LolD; ABC-type lipoprotein export system, ATPase component [Cell wall/membrane/envelope biogenesis]
    pfam01061
    Location:419578
    ABC2_membrane; ABC-2 type transporter
  4. XM_011529806.2XP_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:85310
    ABCG_EPDR; Eye pigment and drug resistance transporter subfamily G of the ATP-binding cassette superfamily
    TIGR00955
    Location:71689
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
    pfam01061
    Location:419621
    ABC2_membrane; ABC-2 type transporter
  5. XM_047441053.1XP_047297009.1  ATP-binding cassette sub-family G member 1 isoform X3

  6. XM_024452141.2XP_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:202786
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    40589747..40686722
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054324965.1XP_054180940.1  ATP-binding cassette sub-family G member 1 isoform X4

  2. XM_054324966.1XP_054180941.1  ATP-binding cassette sub-family G member 1 isoform X5

  3. XM_054324963.1XP_054180938.1  ATP-binding cassette sub-family G member 1 isoform X2

  4. XM_054324962.1XP_054180937.1  ATP-binding cassette sub-family G member 1 isoform X1

  5. XM_054324964.1XP_054180939.1  ATP-binding cassette sub-family G member 1 isoform X3

  6. XM_054324967.1XP_054180942.1  ATP-binding cassette sub-family G member 1 isoform X6

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. 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.