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Protein

ATP-binding cassette sub-family G member 5

Gene

ABCG5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Transporter that appears to play an indispensable role in the selective transport of the dietary cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi86 – 93ATPPROSITE-ProRule annotation8

GO - Molecular functioni

GO - Biological processi

  • cholesterol efflux Source: BHF-UCL
  • cholesterol homeostasis Source: BHF-UCL
  • excretion Source: BHF-UCL
  • intestinal cholesterol absorption Source: BHF-UCL
  • negative regulation of intestinal cholesterol absorption Source: BHF-UCL
  • negative regulation of intestinal phytosterol absorption Source: BHF-UCL
  • response to drug Source: Ensembl
  • response to ionizing radiation Source: Ensembl
  • response to nutrient Source: Ensembl
  • sterol transport Source: Reactome
  • transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Transport

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000138075-MONOMER.
ReactomeiR-HSA-1369062. ABC transporters in lipid homeostasis.
R-HSA-265473. Trafficking of dietary sterols.

Protein family/group databases

TCDBi3.A.1.204.5. the atp-binding cassette (abc) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
ATP-binding cassette sub-family G member 5
Alternative name(s):
Sterolin-1
Gene namesi
Name:ABCG5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:13886. ABCG5.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 383CytoplasmicSequence analysisAdd BLAST383
Transmembranei384 – 404Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini405 – 421ExtracellularSequence analysisAdd BLAST17
Transmembranei422 – 442Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini443 – 462CytoplasmicSequence analysisAdd BLAST20
Transmembranei463 – 483Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini484 – 503ExtracellularSequence analysisAdd BLAST20
Transmembranei504 – 524Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini525 – 528CytoplasmicSequence analysis4
Transmembranei529 – 549Helical; Name=5Sequence analysisAdd BLAST21
Topological domaini550 – 623ExtracellularSequence analysisAdd BLAST74
Transmembranei624 – 644Helical; Name=6Sequence analysisAdd BLAST21
Topological domaini645 – 651CytoplasmicSequence analysis7

GO - Cellular componenti

  • apical plasma membrane Source: BHF-UCL
  • ATP-binding cassette (ABC) transporter complex Source: BHF-UCL
  • plasma membrane Source: Reactome
  • receptor complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Sitosterolemia (STSL)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRare autosomal recessive disorder characterized by increased intestinal absorption of all sterols including cholesterol, plant and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. Sitosterolemia patients have hypercholesterolemia, very high levels of plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease.
See also OMIM:210250
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_012244146E → Q in STSL. 1 PublicationCorresponds to variant rs758551848dbSNPEnsembl.1
Natural variantiVAR_012245389R → H in STSL. 2 PublicationsCorresponds to variant rs119480069dbSNPEnsembl.1
Natural variantiVAR_012246419R → H in STSL. 2 PublicationsCorresponds to variant rs119479067dbSNPEnsembl.1
Natural variantiVAR_012247419R → P in STSL. 2 PublicationsCorresponds to variant rs119479067dbSNPEnsembl.1
Natural variantiVAR_020781437N → K in STSL. 1 PublicationCorresponds to variant rs575266356dbSNPEnsembl.1
Natural variantiVAR_012248550R → S in STSL. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi64240.
MalaCardsiABCG5.
MIMi210250. phenotype.
OpenTargetsiENSG00000138075.
Orphaneti2882. Sitosterolemia.
PharmGKBiPA24411.

Chemistry databases

DrugBankiDB00973. Ezetimibe.

Polymorphism and mutation databases

BioMutaiABCG5.
DMDMi17432917.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000933931 – 651ATP-binding cassette sub-family G member 5Add BLAST651

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi584N-linked (GlcNAc...)Sequence analysis1
Glycosylationi591N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9H222.
PRIDEiQ9H222.

PTM databases

iPTMnetiQ9H222.
PhosphoSitePlusiQ9H222.

Expressioni

Tissue specificityi

Strongly expressed in the liver, lower levels in the small intestine and colon.

Gene expression databases

BgeeiENSG00000138075.
CleanExiHS_ABCG5.
ExpressionAtlasiQ9H222. baseline and differential.
GenevisibleiQ9H222. HS.

Organism-specific databases

HPAiHPA016514.

Interactioni

Subunit structurei

May form heterodimers with ABCG8 or be tightly coupled to ABCG8 along a pathway regulating diatery-sterol absorption and excretion.

Binary interactionsi

WithEntry#Exp.IntActNotes
ABCG8Q9H2212EBI-1761423,EBI-3908684
NCK1P163332EBI-1761423,EBI-389883

GO - Molecular functioni

  • protein heterodimerization activity Source: BHF-UCL

Protein-protein interaction databases

BioGridi122124. 2 interactors.
DIPiDIP-42630N.
IntActiQ9H222. 5 interactors.
MINTiMINT-2840498.
STRINGi9606.ENSP00000260645.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5DO7X-ray3.93A/C1-651[»]
ProteinModelPortaliQ9H222.
SMRiQ9H222.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini52 – 293ABC transporterPROSITE-ProRule annotationAdd BLAST242
Domaini388 – 645ABC transmembrane type-2Add BLAST258

Sequence similaritiesi

Contains 1 ABC transporter domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0061. Eukaryota.
COG1131. LUCA.
GeneTreeiENSGT00740000114855.
HOGENOMiHOG000033763.
HOVERGENiHBG050443.
InParanoidiQ9H222.
KOiK05683.
OMAiICHKTLE.
OrthoDBiEOG091G0FOJ.
PhylomeDBiQ9H222.
TreeFamiTF105212.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR003593. AAA+_ATPase.
IPR013525. ABC_2_trans.
IPR003439. ABC_transporter-like.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF01061. ABC2_membrane. 1 hit.
PF00005. ABC_tran. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS50893. ABC_TRANSPORTER_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H222-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGDLSSLTPG GSMGLQVNRG SQSSLEGAPA TAPEPHSLGI LHASYSVSHR
60 70 80 90 100
VRPWWDITSC RQQWTRQILK DVSLYVESGQ IMCILGSSGS GKTTLLDAMS
110 120 130 140 150
GRLGRAGTFL GEVYVNGRAL RREQFQDCFS YVLQSDTLLS SLTVRETLHY
160 170 180 190 200
TALLAIRRGN PGSFQKKVEA VMAELSLSHV ADRLIGNYSL GGISTGERRR
210 220 230 240 250
VSIAAQLLQD PKVMLFDEPT TGLDCMTANQ IVVLLVELAR RNRIVVLTIH
260 270 280 290 300
QPRSELFQLF DKIAILSFGE LIFCGTPAEM LDFFNDCGYP CPEHSNPFDF
310 320 330 340 350
YMDLTSVDTQ SKEREIETSK RVQMIESAYK KSAICHKTLK NIERMKHLKT
360 370 380 390 400
LPMVPFKTKD SPGVFSKLGV LLRRVTRNLV RNKLAVITRL LQNLIMGLFL
410 420 430 440 450
LFFVLRVRSN VLKGAIQDRV GLLYQFVGAT PYTGMLNAVN LFPVLRAVSD
460 470 480 490 500
QESQDGLYQK WQMMLAYALH VLPFSVVATM IFSSVCYWTL GLHPEVARFG
510 520 530 540 550
YFSAALLAPH LIGEFLTLVL LGIVQNPNIV NSVVALLSIA GVLVGSGFLR
560 570 580 590 600
NIQEMPIPFK IISYFTFQKY CSEILVVNEF YGLNFTCGSS NVSVTTNPMC
610 620 630 640 650
AFTQGIQFIE KTCPGATSRF TMNFLILYSF IPALVILGIV VFKIRDHLIS

R
Length:651
Mass (Da):72,504
Last modified:March 1, 2001 - v1
Checksum:i950BABFCBB6A1536
GO
Isoform 2 (identifier: Q9H222-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-395: Missing.

Note: No experimental confirmation available.
Show »
Length:256
Mass (Da):28,480
Checksum:iE8AB9B5738CDA01C
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04814250R → C.Corresponds to variant rs6756629dbSNPEnsembl.1
Natural variantiVAR_012244146E → Q in STSL. 1 PublicationCorresponds to variant rs758551848dbSNPEnsembl.1
Natural variantiVAR_012245389R → H in STSL. 2 PublicationsCorresponds to variant rs119480069dbSNPEnsembl.1
Natural variantiVAR_012246419R → H in STSL. 2 PublicationsCorresponds to variant rs119479067dbSNPEnsembl.1
Natural variantiVAR_012247419R → P in STSL. 2 PublicationsCorresponds to variant rs119479067dbSNPEnsembl.1
Natural variantiVAR_020781437N → K in STSL. 1 PublicationCorresponds to variant rs575266356dbSNPEnsembl.1
Natural variantiVAR_033457517T → S.Corresponds to variant rs17031672dbSNPEnsembl.1
Natural variantiVAR_020782523I → V.1 PublicationCorresponds to variant rs140899003dbSNPEnsembl.1
Natural variantiVAR_012248550R → S in STSL. 1 Publication1
Natural variantiVAR_020783600C → Y.1 PublicationCorresponds to variant rs779109455dbSNPEnsembl.1
Natural variantiVAR_012249604Q → E.4 PublicationsCorresponds to variant rs6720173dbSNPEnsembl.1
Natural variantiVAR_020784622M → V.1 PublicationCorresponds to variant rs140374206dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0557701 – 395Missing in isoform 2. 1 PublicationAdd BLAST395

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF320293 mRNA. Translation: AAG40003.1.
AF312715 mRNA. Translation: AAG53099.1.
AC011242 Genomic DNA. No translation available.
AC108476 Genomic DNA. No translation available.
CH471053 Genomic DNA. Translation: EAX00286.1.
BC111541 mRNA. Translation: AAI11542.1.
AF404106 Genomic DNA. Translation: AAK85387.1.
AF404107 Genomic DNA. Translation: AAK85388.1.
CCDSiCCDS1814.1. [Q9H222-1]
RefSeqiNP_071881.1. NM_022436.2. [Q9H222-1]
UniGeneiHs.132992.

Genome annotation databases

EnsembliENST00000260645; ENSP00000260645; ENSG00000138075. [Q9H222-1]
GeneIDi64240.
KEGGihsa:64240.
UCSCiuc002rtn.3. human. [Q9H222-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

ABCMdb

Database for mutations in ABC proteins

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF320293 mRNA. Translation: AAG40003.1.
AF312715 mRNA. Translation: AAG53099.1.
AC011242 Genomic DNA. No translation available.
AC108476 Genomic DNA. No translation available.
CH471053 Genomic DNA. Translation: EAX00286.1.
BC111541 mRNA. Translation: AAI11542.1.
AF404106 Genomic DNA. Translation: AAK85387.1.
AF404107 Genomic DNA. Translation: AAK85388.1.
CCDSiCCDS1814.1. [Q9H222-1]
RefSeqiNP_071881.1. NM_022436.2. [Q9H222-1]
UniGeneiHs.132992.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5DO7X-ray3.93A/C1-651[»]
ProteinModelPortaliQ9H222.
SMRiQ9H222.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122124. 2 interactors.
DIPiDIP-42630N.
IntActiQ9H222. 5 interactors.
MINTiMINT-2840498.
STRINGi9606.ENSP00000260645.

Chemistry databases

DrugBankiDB00973. Ezetimibe.

Protein family/group databases

TCDBi3.A.1.204.5. the atp-binding cassette (abc) superfamily.

PTM databases

iPTMnetiQ9H222.
PhosphoSitePlusiQ9H222.

Polymorphism and mutation databases

BioMutaiABCG5.
DMDMi17432917.

Proteomic databases

PaxDbiQ9H222.
PRIDEiQ9H222.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000260645; ENSP00000260645; ENSG00000138075. [Q9H222-1]
GeneIDi64240.
KEGGihsa:64240.
UCSCiuc002rtn.3. human. [Q9H222-1]

Organism-specific databases

CTDi64240.
DisGeNETi64240.
GeneCardsiABCG5.
GeneReviewsiABCG5.
HGNCiHGNC:13886. ABCG5.
HPAiHPA016514.
MalaCardsiABCG5.
MIMi210250. phenotype.
605459. gene.
neXtProtiNX_Q9H222.
OpenTargetsiENSG00000138075.
Orphaneti2882. Sitosterolemia.
PharmGKBiPA24411.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0061. Eukaryota.
COG1131. LUCA.
GeneTreeiENSGT00740000114855.
HOGENOMiHOG000033763.
HOVERGENiHBG050443.
InParanoidiQ9H222.
KOiK05683.
OMAiICHKTLE.
OrthoDBiEOG091G0FOJ.
PhylomeDBiQ9H222.
TreeFamiTF105212.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000138075-MONOMER.
ReactomeiR-HSA-1369062. ABC transporters in lipid homeostasis.
R-HSA-265473. Trafficking of dietary sterols.

Miscellaneous databases

GeneWikiiABCG5.
GenomeRNAii64240.
PROiQ9H222.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000138075.
CleanExiHS_ABCG5.
ExpressionAtlasiQ9H222. baseline and differential.
GenevisibleiQ9H222. HS.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR003593. AAA+_ATPase.
IPR013525. ABC_2_trans.
IPR003439. ABC_transporter-like.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF01061. ABC2_membrane. 1 hit.
PF00005. ABC_tran. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS50893. ABC_TRANSPORTER_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiABCG5_HUMAN
AccessioniPrimary (citable) accession number: Q9H222
Secondary accession number(s): Q2T9G2, Q96QZ2, Q96QZ3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 5, 2001
Last sequence update: March 1, 2001
Last modified: November 30, 2016
This is version 150 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.