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ABCG5

GENERAL INFORMATION

Gene name

 ABCG5

Gene description

 ATP-binding cassette, sub-family G (WHITE), member 5

Protein class

 Disease related genes
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localization

 Membrane

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Group enriched (duodenum, liver, small intestine)
GTEx:Tissue enriched (liver)
FANTOM5:Group enriched (colon, liver, small intestine)

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic and membranous expression in small intestine and liver.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data. Presumed off target binding observed and disregarded.

Reliability score

 Approved based on 1 antibody.
HPA016514
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Duodenum

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (duodenum, liver, small intestine)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (liver)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (colon, liver, small intestine)

GENE INFORMATION

Gene name

 ABCG5 (HGNC Symbol)

Synonyms

 STSL

Description

 ATP-binding cassette, sub-family G (WHITE), member 5 (HGNC Symbol)

Entrez gene 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]

Chromosome

 2

Cytoband

 p21

Chromosome location (bp)

 43812472 - 43838865

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000138075 (version 83.38)

Entrez gene

 64240

UniProt

 Q9H222 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9H222

Antibodypedia

 ABCG5 antibodies

PROTEIN BROWSER
ABCG5-001
ABCG5-002

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ABCG5-001
ENSP00000260645
ENST00000260645
Q9H222 [Direct mapping]
ATP-binding cassette sub-family G member 5
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Transporters
   Primary Active Transporters
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   6TM proteins predicted by MDM
Disease related genes
Potential drug targets
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GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005886 [plasma membrane]
GO:0007584 [response to nutrient]
GO:0007588 [excretion]
GO:0010212 [response to ionizing radiation]
GO:0010949 [negative regulation of intestinal phytosterol absorption]
GO:0015918 [sterol transport]
GO:0016020 [membrane]
GO:0016324 [apical plasma membrane]
GO:0016887 [ATPase activity]
GO:0017127 [cholesterol transporter activity]
GO:0030299 [intestinal cholesterol absorption]
GO:0033344 [cholesterol efflux]
GO:0042493 [response to drug]
GO:0042626 [ATPase activity, coupled to transmembrane movement of substances]
GO:0042632 [cholesterol homeostasis]
GO:0043190 [ATP-binding cassette (ABC) transporter complex]
GO:0043235 [receptor complex]
GO:0044281 [small molecule metabolic process]
GO:0045177 [apical part of cell]
GO:0045796 [negative regulation of intestinal cholesterol absorption]
GO:0046982 [protein heterodimerization activity]
GO:0055085 [transmembrane transport]
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 651 aa
72.5 kDa 		No 6
ABCG5-002
ENSP00000384513
ENST00000405322
E7EX35 [Direct mapping]
ATP-binding cassette sub-family G member 5
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Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   6TM proteins predicted by MDM
Show all
GO:0005524 [ATP binding]
GO:0008152 [metabolic process]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016887 [ATPase activity]
Show all
 480 aa
53.4 kDa 		No 6

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.