ABCG4
ATP-binding cassette sub-family G member 4
Also known as: ABCG4_HUMAN, WHITE2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9H172
- Gene
- ABCG4
- Ensembl
- ENSG00000172350
- Chromosome
- 11
- Canonical length
- 646 aa
- Protein class
- Predicted intracellular proteins, Predicted membrane proteins, Transporters
- Quaternary structure
- Homodimer
OverviewNCBI Gene
The protein encoded by this gene is a member of the ATP-binding cassette (ABC) transporter superfamily. 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). The encoded protein is a member of the White subfamily and plays an important role in cellular cholesterol homeostasis. This protein functions as either a homodimer or as a heterodimer with another ABC subfamily protein such as ABCG1. [provided by RefSeq, Jan 2017]
Canonical amino-acid sequenceUniProt
646 residues, UniProt reviewed canonical sequence.
>Q9H172|ABCG4
1 MAEKALEAVG CGLGPGAVAM AVTLEDGAEP PVLTTHLKKV ENHITEAQRF SHLPKRSAVD
61 IEFVELSYSV REGPCWRKRG YKTLLKCLSG KFCRRELIGI MGPSGAGKST FMNILAGYRE
121 SGMKGQILVN GRPRELRTFR KMSCYIMQDD MLLPHLTVLE AMMVSANLKL SEKQEVKKEL
181 VTEILTALGL MSCSHTRTAL LSGGQRKRLA IALELVNNPP VMFFDEPTSG LDSASCFQVV
241 SLMKSLAQGG RTIICTIHQP SAKLFEMFDK LYILSQGQCI FKGVVTNLIP YLKGLGLHCP
301 TYHNPADFII EVASGEYGDL NPMLFRAVQN GLCAMAEKKS SPEKNEVPAP CPPCPPEVDP
361 IESHTFATST LTQFCILFKR TFLSILRDTV LTHLRFMSHV VIGVLIGLLY LHIGDDASKV
421 FNNTGCLFFS MLFLMFAALM PTVLTFPLEM AVFMREHLNY WYSLKAYYLA KTMADVPFQV
481 VCPVVYCSIV YWMTGQPAET SRFLLFSALA TATALVAQSL GLLIGAASNS LQVATFVGPV
541 TAIPVLLFSG FFVSFKTIPT YLQWSSYLSY VRYGFEGVIL TIYGMERGDL TCLEERCPFR
601 EPQSILRALD VEDAKLYMDF LVLGIFFLAL RLLAYLVLRY RVKSERLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ABCG4 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 6
- Mean surface accessibility (rSASA)
- 0.29
- Highest tissue expression
- 48 nTPM
Expression across tissuesHPA
Tissue
- retina: 48 nTPM
- cerebellum: 22 nTPM
- cerebral cortex: 9.9 nTPM
- hypothalamus: 6.6 nTPM
- testis: 5.6 nTPM
- hippocampal formation: 4.9 nTPM
Single-cell type
- rod photoreceptor cells: 41 nCPM
- cone photoreceptor cells: 35 nCPM
- retinal bipolar cells: 10 nCPM
- brain inhibitory neurons: 8.7 nCPM
- other brain neurons: 8.2 nCPM
- retinal horizontal cells: 8 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebral cortex: 28 nTPM
- cerebellum: 19 nTPM
- pons: 18 nTPM
- thalamus: 17 nTPM
- hypothalamus: 16 nTPM
- white matter: 15 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.82
- gnomAD pLI
- 0
- gnomAD missense Z
- 2.27
- DepMap mean gene effect
- 0.06
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to high density lipoprotein particle stimulus
- cellular response to leukemia inhibitory factor
- cholesterol efflux
- cholesterol homeostasis
- positive regulation of cholesterol biosynthetic process
- positive regulation of cholesterol efflux
- regulation of DNA-templated transcription
- transmembrane transport
Molecular functions
- ABC-type sterol transporter activity
- ATP binding
- ATP hydrolysis activity
- identical protein binding
- protein heterodimerization activity
- protein homodimerization activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- ABC transporter-like, ATP-binding domain
- AAA+ ATPase domain
- ABC-2 type transporter, transmembrane domain
- ABC transporter-like, conserved site
- P-loop containing nucleoside triphosphate hydrolase
- ABC transporter family G domain
- ATP-binding cassette subfamily G transporters
- ABC transporter
- ABC-2 type transporter
- ABC-2 type transporter
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ABCG4 as an antibody target. Whether an autoantibody or antibody against ABCG4 could matter depends on whether native ABCG4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ABCG4 is annotated at the cell surface, where native ABCG4 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label ABCG4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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