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Q9H222

- ABCG5_HUMAN

UniProt

Q9H222 - ABCG5_HUMAN

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Protein

ATP-binding cassette sub-family G member 5

Gene

ABCG5

Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi86 – 938ATPPROSITE-ProRule annotation

GO - Molecular functioni

  1. ATPase activity Source: InterPro
  2. ATP binding Source: UniProtKB-KW
  3. cholesterol transporter activity Source: Ensembl
  4. protein heterodimerization activity Source: BHF-UCL

GO - Biological processi

  1. ATP catabolic process Source: GOC
  2. cholesterol efflux Source: BHF-UCL
  3. cholesterol homeostasis Source: BHF-UCL
  4. excretion Source: BHF-UCL
  5. intestinal cholesterol absorption Source: BHF-UCL
  6. negative regulation of intestinal cholesterol absorption Source: BHF-UCL
  7. negative regulation of intestinal phytosterol absorption Source: BHF-UCL
  8. response to drug Source: Ensembl
  9. response to ionizing radiation Source: Ensembl
  10. response to nutrient Source: Ensembl
  11. small molecule metabolic process Source: Reactome
  12. sterol transport Source: Reactome
  13. transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Transport

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_111158. ABCA transporters in lipid homeostasis.
REACT_13781. 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
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:13886. ABCG5.

Subcellular locationi

GO - Cellular componenti

  1. apical plasma membrane Source: BHF-UCL
  2. integral component of membrane Source: UniProtKB-KW
  3. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Sitosterolemia (STSL) [MIM:210250]: Rare 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.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti146 – 1461E → Q in STSL. 1 Publication
VAR_012244
Natural varianti389 – 3891R → H in STSL. 2 Publications
VAR_012245
Natural varianti419 – 4191R → H in STSL. 2 Publications
VAR_012246
Natural varianti419 – 4191R → P in STSL. 2 Publications
VAR_012247
Natural varianti437 – 4371N → K in STSL. 1 Publication
VAR_020781
Natural varianti550 – 5501R → S in STSL. 1 Publication
VAR_012248

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi210250. phenotype.
Orphaneti2882. Sitosterolemia.
PharmGKBiPA24411.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 651651ATP-binding cassette sub-family G member 5PRO_0000093393Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi584 – 5841N-linked (GlcNAc...)Sequence Analysis
Glycosylationi591 – 5911N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9H222.
PRIDEiQ9H222.

PTM databases

PhosphoSiteiQ9H222.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ9H222.
CleanExiHS_ABCG5.
ExpressionAtlasiQ9H222. baseline and differential.
GenevestigatoriQ9H222.

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

Protein-protein interaction databases

BioGridi122124. 2 interactions.
IntActiQ9H222. 5 interactions.
MINTiMINT-2840498.
STRINGi9606.ENSP00000260645.

Structurei

3D structure databases

ProteinModelPortaliQ9H222.
SMRiQ9H222. Positions 35-324.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 383383CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini405 – 42117ExtracellularSequence AnalysisAdd
BLAST
Topological domaini443 – 46220CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini484 – 50320ExtracellularSequence AnalysisAdd
BLAST
Topological domaini525 – 5284CytoplasmicSequence Analysis
Topological domaini550 – 62374ExtracellularSequence AnalysisAdd
BLAST
Topological domaini645 – 6517CytoplasmicSequence Analysis

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei384 – 40421Helical; Name=1Sequence AnalysisAdd
BLAST
Transmembranei422 – 44221Helical; Name=2Sequence AnalysisAdd
BLAST
Transmembranei463 – 48321Helical; Name=3Sequence AnalysisAdd
BLAST
Transmembranei504 – 52421Helical; Name=4Sequence AnalysisAdd
BLAST
Transmembranei529 – 54921Helical; Name=5Sequence AnalysisAdd
BLAST
Transmembranei624 – 64421Helical; Name=6Sequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini52 – 293242ABC transporterPROSITE-ProRule annotationAdd
BLAST
Domaini388 – 645258ABC transmembrane type-2Add
BLAST

Sequence similaritiesi

Contains 1 ABC transporter domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1131.
GeneTreeiENSGT00740000114855.
HOGENOMiHOG000033763.
HOVERGENiHBG050443.
InParanoidiQ9H222.
KOiK05683.
OMAiKSAICHK.
OrthoDBiEOG7QNVKG.
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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti50 – 501R → C.
Corresponds to variant rs6756629 [ dbSNP | Ensembl ].
VAR_048142
Natural varianti146 – 1461E → Q in STSL. 1 Publication
VAR_012244
Natural varianti389 – 3891R → H in STSL. 2 Publications
VAR_012245
Natural varianti419 – 4191R → H in STSL. 2 Publications
VAR_012246
Natural varianti419 – 4191R → P in STSL. 2 Publications
VAR_012247
Natural varianti437 – 4371N → K in STSL. 1 Publication
VAR_020781
Natural varianti517 – 5171T → S.
Corresponds to variant rs17031672 [ dbSNP | Ensembl ].
VAR_033457
Natural varianti523 – 5231I → V.1 Publication
VAR_020782
Natural varianti550 – 5501R → S in STSL. 1 Publication
VAR_012248
Natural varianti600 – 6001C → Y.1 Publication
VAR_020783
Natural varianti604 – 6041Q → E.4 Publications
Corresponds to variant rs6720173 [ dbSNP | Ensembl ].
VAR_012249
Natural varianti622 – 6221M → V.1 Publication
Corresponds to variant rs140374206 [ dbSNP | Ensembl ].
VAR_020784

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 395395Missing in isoform 2. 1 PublicationVSP_055770Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]

Polymorphism databases

DMDMi17432917.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

ABCMdb

Database for mutations in ABC proteins

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS1814.1. [Q9H222-1 ]
RefSeqi NP_071881.1. NM_022436.2. [Q9H222-1 ]
UniGenei Hs.132992.

3D structure databases

ProteinModelPortali Q9H222.
SMRi Q9H222. Positions 35-324.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122124. 2 interactions.
IntActi Q9H222. 5 interactions.
MINTi MINT-2840498.
STRINGi 9606.ENSP00000260645.

Chemistry

DrugBanki DB00973. Ezetimibe.

Protein family/group databases

TCDBi 3.A.1.204.5. the atp-binding cassette (abc) superfamily.

PTM databases

PhosphoSitei Q9H222.

Polymorphism databases

DMDMi 17432917.

Proteomic databases

PaxDbi Q9H222.
PRIDEi Q9H222.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000260645 ; ENSP00000260645 ; ENSG00000138075 . [Q9H222-1 ]
GeneIDi 64240.
KEGGi hsa:64240.
UCSCi uc002rtn.3. human. [Q9H222-1 ]

Organism-specific databases

CTDi 64240.
GeneCardsi GC02M044039.
GeneReviewsi ABCG5.
HGNCi HGNC:13886. ABCG5.
HPAi HPA016514.
MIMi 210250. phenotype.
605459. gene.
neXtProti NX_Q9H222.
Orphaneti 2882. Sitosterolemia.
PharmGKBi PA24411.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1131.
GeneTreei ENSGT00740000114855.
HOGENOMi HOG000033763.
HOVERGENi HBG050443.
InParanoidi Q9H222.
KOi K05683.
OMAi KSAICHK.
OrthoDBi EOG7QNVKG.
PhylomeDBi Q9H222.
TreeFami TF105212.

Enzyme and pathway databases

Reactomei REACT_111158. ABCA transporters in lipid homeostasis.
REACT_13781. Trafficking of dietary sterols.

Miscellaneous databases

GeneWikii ABCG5.
GenomeRNAii 64240.
NextBioi 66188.
PROi Q9H222.
SOURCEi Search...

Gene expression databases

Bgeei Q9H222.
CleanExi HS_ABCG5.
ExpressionAtlasi Q9H222. baseline and differential.
Genevestigatori Q9H222.

Family and domain databases

Gene3Di 3.40.50.300. 1 hit.
InterProi IPR003593. AAA+_ATPase.
IPR013525. ABC_2_trans.
IPR003439. ABC_transporter-like.
IPR027417. P-loop_NTPase.
[Graphical view ]
Pfami PF01061. ABC2_membrane. 1 hit.
PF00005. ABC_tran. 1 hit.
[Graphical view ]
SMARTi SM00382. AAA. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 1 hit.
PROSITEi PS50893. ABC_TRANSPORTER_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters."
    Berge K.E., Tian H., Graf G.A., Yu L., Grishin N.V., Schultz J., Kwiterovich P., Shan B., Barnes R., Hobbs H.H.
    Science 290:1771-1775(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT GLU-604.
    Tissue: Liver.
  2. "Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption."
    Lee M.-H., Lu K., Hazard S., Yu H., Shulenin S., Hidaka H., Kojima H., Allikmets R., Sakuma N., Pegoraro R., Srivastava A.K., Salen G., Dean M., Patel S.B.
    Nat. Genet. 27:79-83(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS STSL HIS-389; HIS-419 AND PRO-419, VARIANT GLU-604.
    Tissue: Liver.
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  6. "Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively."
    Lu K., Lee M.-H., Hazard S., Brooks-Wilson A., Hidaka H., Kojima H., Ose L., Stalenhoef A.F.H., Mietinnen T., Bjorkhem I., Bruckert E., Pandya A., Brewer H.B. Jr., Salen G., Dean M., Srivastava A.K., Patel S.B.
    Am. J. Hum. Genet. 69:278-290(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-88 (ISOFORM 1), VARIANTS STSL GLN-146; HIS-389; PRO-419; HIS-419 AND SER-550, VARIANT GLU-604.
  7. "Role of ABCG1 and other ABCG family members in lipid metabolism."
    Schmitz G., Langmann T., Heimerl S.
    J. Lipid Res. 42:1513-1520(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW.
  8. "Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia."
    Hubacek J.A., Berge K.E., Cohen J.C., Hobbs H.H.
    Hum. Mutat. 18:359-360(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT STSL LYS-437, VARIANTS VAL-523; TYR-600; GLU-604 AND VAL-622.

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: October 29, 2014
This is version 129 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

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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3