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

    Gene ID: 9619, updated on 25-Nov-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
    109.20190905 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 BioSystems

    • ABC transporters, organism-specific biosystem (from KEGG)
      ABC transporters, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
    • ABC transporters, conserved biosystem (from KEGG)
      ABC transporters, conserved biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
    • ABC transporters in lipid homeostasis, organism-specific biosystem (from REACTOME)
      ABC transporters in lipid homeostasis, organism-specific biosystemA defined subset of the ABC transporter superfamily, the ABCA transporters, are highly expressed in monocytes and macrophages and are regulated by cholesterol flux which may indicate their role in in...
    • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
      ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
    • HDL-mediated lipid transport, organism-specific biosystem (from REACTOME)
      HDL-mediated lipid transport, organism-specific biosystemHDL particles play a central role in the reverse transport of cholesterol, the process by which cholesterol in tissues other than the liver is returned to the liver for conversion to bile salts and e...
    • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
      Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
    • Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
      Lipoprotein metabolism, organism-specific biosystemBecause of their hydrophobicity, lipids are found in the extracellular spaces of the human body primarily in the form of lipoprotein complexes. Chylomicrons form in the small intestine and transport ...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Nuclear Receptors in Lipid Metabolism and Toxicity, organism-specific biosystem (from WikiPathways)
      Nuclear Receptors in Lipid Metabolism and Toxicity, organism-specific biosystemNuclear receptors are transcription factors that are activated upon binding to its ligands. Initially, they had been classified as classic endocrine nuclear hormone receptors and orphan receptors. Ho...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules

    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 Annotation Release 109.20190905

    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.
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