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ABCG5 ATP binding cassette subfamily G member 5 [ Homo sapiens (human) ]

Gene ID: 64240, updated on 2-Aug-2020

Summary

Official Symbol
ABCG5provided by HGNC
Official Full Name
ATP binding cassette subfamily G member 5provided by HGNC
Primary source
HGNC:HGNC:13886
See related
Ensembl:ENSG00000138075 MIM:605459
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
STSL; STSL2
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. The protein encoded by this gene functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]
Expression
Biased expression in duodenum (RPKM 25.9), small intestine (RPKM 24.3) and 1 other tissue See more
Orthologs

Genomic context

See ABCG5 in Genome Data Viewer
Location:
2p21
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (43806154..43838840, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (44039611..44066039, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374571 Neighboring gene RN7SK pseudogene 66 Neighboring gene dynein cytoplasmic 2 light intermediate chain 1 Neighboring gene uncharacterized LOC102725159 Neighboring gene ATP binding cassette subfamily G member 8 Neighboring gene RNA, U6 small nuclear 1048, pseudogene Neighboring gene leucine rich pentatricopeptide repeat containing

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

Associated conditions

Description Tests
SITOSTEROLEMIA 2
MedGen: C5231453 OMIM: 618666 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.
NHGRI GWA Catalog
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
NHGRI GWA Catalog
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
ATPase activity, coupled to transmembrane movement of substances IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to intermembrane cholesterol transfer activity IGI
Inferred from Genetic Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cholesterol efflux IGI
Inferred from Genetic Interaction
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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
excretion IGI
Inferred from Genetic Interaction
more info
PubMed 
intermembrane lipid transfer IEA
Inferred from Electronic Annotation
more info
 
intestinal cholesterol absorption IC
Inferred by Curator
more info
PubMed 
negative regulation of intestinal cholesterol absorption IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of intestinal phytosterol absorption IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to ionizing radiation IEA
Inferred from Electronic Annotation
more info
 
response to nutrient IEA
Inferred from Electronic Annotation
more info
 
sterol transport ISS
Inferred from Sequence or Structural Similarity
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
ATP-binding cassette (ABC) transporter complex IDA
Inferred from Direct Assay
more info
PubMed 
apical plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ATP-binding cassette sub-family G member 5
Names
ATP-binding cassette, sub-family G (WHITE), member 5
sterolin 1

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.

Genomic

  1. NG_008883.1 RefSeqGene

    Range
    4981..31348
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_022436.3NP_071881.1  ATP-binding cassette sub-family G member 5

    See identical proteins and their annotated locations for NP_071881.1

    Status: REVIEWED

    Source sequence(s)
    AC108476, AF312715
    Consensus CDS
    CCDS1814.1
    UniProtKB/Swiss-Prot
    Q9H222
    Related
    ENSP00000384513.2, ENST00000405322.8
    Conserved Domains (3) summary
    cd03234
    Location:50275
    ABCG_White; White pigment protein homolog of ABCG transporter subfamily
    TIGR00955
    Location:60645
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
    pfam01061
    Location:371578
    ABC2_membrane; ABC-2 type transporter

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    43806154..43838840 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006712073.3XP_006712136.1  ATP-binding cassette sub-family G member 5 isoform X2

    Conserved Domains (3) summary
    cd03234
    Location:50275
    ABCG_White; White pigment protein homolog of ABCG transporter subfamily
    COG1122
    Location:66286
    EcfA2; Energy-coupling factor transporter ATP-binding protein EcfA2 [Inorganic ion transport and metabolism, General function prediction only]
    pfam01061
    Location:371578
    ABC2_membrane; ABC-2 type transporter
  2. XM_011533026.2XP_011531328.1  ATP-binding cassette sub-family G member 5 isoform X4

    Conserved Domains (3) summary
    TIGR00955
    Location:60555
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
    pfam01061
    Location:281488
    ABC2_membrane; ABC-2 type transporter
    cl21455
    Location:50211
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  3. XM_011533024.2XP_011531326.1  ATP-binding cassette sub-family G member 5 isoform X1

    Conserved Domains (3) summary
    cd03234
    Location:50275
    ABCG_White; White pigment protein homolog of ABCG transporter subfamily
    TIGR00955
    Location:60600
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
    pfam01061
    Location:395533
    ABC2_membrane; ABC-2 type transporter
  4. XM_011533025.3XP_011531327.1  ATP-binding cassette sub-family G member 5 isoform X3

    Related
    ENST00000644754.1
    Conserved Domains (3) summary
    cd03234
    Location:1194
    ABCG_White; White pigment protein homolog of ABCG transporter subfamily
    TIGR00955
    Location:1564
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
    pfam01061
    Location:290497
    ABC2_membrane; ABC-2 type transporter
  5. XM_011533027.3XP_011531329.1  ATP-binding cassette sub-family G member 5 isoform X6

    Conserved Domains (2) summary
    pfam01061
    Location:200407
    ABC2_membrane; ABC-2 type transporter
    cl21455
    Location:2104
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  6. XM_011533028.2XP_011531330.1  ATP-binding cassette sub-family G member 5 isoform X7

    Conserved Domains (1) summary
    pfam01061
    Location:92299
    ABC2_membrane; ABC-2 type transporter
  7. XM_005264480.4XP_005264537.1  ATP-binding cassette sub-family G member 5 isoform X5

    Conserved Domains (3) summary
    cd03234
    Location:50275
    ABCG_White; White pigment protein homolog of ABCG transporter subfamily
    COG1122
    Location:66286
    EcfA2; Energy-coupling factor transporter ATP-binding protein EcfA2 [Inorganic ion transport and metabolism, General function prediction only]
    pfam01061
    Location:371549
    ABC2_membrane; ABC-2 type transporter
  8. XM_006712074.3XP_006712137.1  ATP-binding cassette sub-family G member 5 isoform X8

    Conserved Domains (2) summary
    cd03234
    Location:50275
    ABCG_White; White pigment protein homolog of ABCG transporter subfamily
    COG1122
    Location:66286
    EcfA2; Energy-coupling factor transporter ATP-binding protein EcfA2 [Inorganic ion transport and metabolism, General function prediction only]
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