Format

Send to:

Choose Destination

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

Gene ID: 9619, updated on 21-Dec-2019

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
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

Genomic context

See ABCG1 in Genome Data Viewer
Location:
21q22.3
Exon count:
23
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (42199689..42304387)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (43619799..43724497)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985502 Neighboring gene uromodulin like 1 Neighboring gene UMODL1 antisense RNA 1 Neighboring gene uncharacterized LOC105372814 Neighboring gene RNA, 5S ribosomal pseudogene 492 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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC34313

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ADP binding IDA
Inferred from Direct Assay
more info
PubMed 
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
ATPase activity IEA
Inferred from Electronic Annotation
more info
 
ATPase activity, coupled to transmembrane movement of substances IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol binding IC
Inferred by Curator
more info
PubMed 
intermembrane cholesterol transfer activity IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid binding IC
Inferred by Curator
more info
PubMed 
phospholipid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipid transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein dimerization activity NAS
Non-traceable Author Statement
more info
PubMed 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
sterol-transporting ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sterol-transporting ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
toxin transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
amyloid precursor protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to high density lipoprotein particle stimulus IEA
Inferred from Electronic Annotation
more info
 
cholesterol efflux IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol efflux IMP
Inferred from Mutant Phenotype
more info
PubMed 
cholesterol homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
detection of hormone stimulus NAS
Non-traceable Author Statement
more info
PubMed 
glycoprotein transport IDA
Inferred from Direct Assay
more info
PubMed 
high-density lipoprotein particle remodeling ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
high-density lipoprotein particle remodeling TAS
Traceable Author Statement
more info
 
intracellular cholesterol transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
low-density lipoprotein particle remodeling ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of cholesterol storage TAS
Traceable Author Statement
more info
PubMed 
negative regulation of macrophage derived foam cell differentiation TAS
Traceable Author Statement
more info
PubMed 
phospholipid efflux IMP
Inferred from Mutant Phenotype
more info
PubMed 
phospholipid homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of amyloid-beta formation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cholesterol biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cholesterol efflux IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein secretion IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cholesterol esterification ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
response to lipid IDA
Inferred from Direct Assay
more info
PubMed 
response to organic substance IDA
Inferred from Direct Assay
more info
PubMed 
reverse cholesterol transport ISS
Inferred from Sequence or Structural Similarity
more info
 
toxin transport IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi apparatus HDA PubMed 
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
endosome ISS
Inferred from Sequence or Structural Similarity
more info
 
external side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane HDA PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
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)

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_004915.3NP_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)
    BC029158, U34919, X91249
    Consensus CDS
    CCDS13682.1
    UniProtKB/Swiss-Prot
    P45844
    Related
    ENSP00000354995.2, ENST00000361802.6
    Conserved Domains (3) summary
    cd03213
    Location:74299
    ABCG_EPDR; Eye pigment and drug resistance transporter subfamily G of the ATP-binding cassette superfamily
    TIGR00955
    Location:60678
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
    pfam01061
    Location:408610
    ABC2_membrane; ABC-2 type transporter
  2. NM_016818.2NP_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)
    BC029158, X91249
    Consensus CDS
    CCDS42938.1
    UniProtKB/Swiss-Prot
    P45844
    Related
    ENSP00000381467.3, ENST00000398449.7
    Conserved Domains (3) summary
    cd03213
    Location:74299
    ABCG_EPDR; Eye pigment and drug resistance transporter subfamily G of the ATP-binding cassette superfamily
    TIGR00955
    Location:60666
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
    pfam01061
    Location:396598
    ABC2_membrane; ABC-2 type transporter
  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/Swiss-Prot
    P45844
    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_207627.1NP_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/Swiss-Prot
    P45844
    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/Swiss-Prot
    P45844
    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_207629.1NP_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/Swiss-Prot
    P45844
    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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    42199689..42304387
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    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
  2. XM_011529806.1XP_011528108.1  ATP-binding cassette sub-family G member 1 isoform X1

    See identical proteins and their annotated locations for XP_011528108.1

    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
  3. XM_024452141.1XP_024307909.1  ATP-binding cassette sub-family G member 1 isoform X3

    Related
    ENSP00000381464.1, ENST00000398437.1
    Conserved Domains (1) summary
    TIGR00955
    Location:202786
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein

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.
Support Center