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

    Gene ID: 9619, updated on 10-Dec-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_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_000021.9Genomic 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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, ENST00000361802.7
      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_2024_08

    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

      UniProtKB/TrEMBL
      A8K7Y7
    2. XM_047441055.1XP_047297011.1  ATP-binding cassette sub-family G member 1 isoform X5

      UniProtKB/TrEMBL
      A8K7Y7
    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

      UniProtKB/TrEMBL
      B4DPT7
    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

      UniProtKB/TrEMBL
      A8K7Y7
    2. XM_054324966.1XP_054180941.1  ATP-binding cassette sub-family G member 1 isoform X5

      UniProtKB/TrEMBL
      A8K7Y7
    3. XM_054324963.1XP_054180938.1  ATP-binding cassette sub-family G member 1 isoform X2

      UniProtKB/TrEMBL
      B4DPT7
    4. XM_054324962.1XP_054180937.1  ATP-binding cassette sub-family G member 1 isoform X1

      UniProtKB/TrEMBL
      B4DPT7
    5. XM_054324964.1XP_054180939.1  ATP-binding cassette sub-family G member 1 isoform X3

      UniProtKB/TrEMBL
      B4DPT7
    6. XM_054324967.1XP_054180942.1  ATP-binding cassette sub-family G member 1 isoform X6

      UniProtKB/TrEMBL
      E9PGV9

    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.