UniProtKB - Q9H172 (ABCG4_HUMAN)
Protein
ATP-binding cassette sub-family G member 4
Gene
ABCG4
Organism
Homo sapiens (Human)
Status
Functioni
May be involved in macrophage lipid homeostasis.
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 102 – 109 | ATPPROSITE-ProRule annotation | 8 |
GO - Molecular functioni
- ATPase activity Source: InterPro
- ATPase-coupled transmembrane transporter activity Source: InterPro
- ATP binding Source: UniProtKB-KW
- protein heterodimerization activity Source: BHF-UCL
- protein homodimerization activity Source: BHF-UCL
GO - Biological processi
- cellular response to leukemia inhibitory factor Source: Ensembl
- cholesterol efflux Source: GO_Central
- transmembrane transport Source: Reactome
Keywordsi
Biological process | Transport |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q9H172 |
Reactomei | R-HSA-1369062, ABC transporters in lipid homeostasis |
Protein family/group databases
TCDBi | 3.A.1.204.20, the atp-binding cassette (abc) superfamily |
Names & Taxonomyi
Protein namesi | Recommended name: ATP-binding cassette sub-family G member 4 |
Gene namesi | Name:ABCG4 Synonyms:WHITE2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:13884, ABCG4 |
MIMi | 607784, gene |
neXtProti | NX_Q9H172 |
VEuPathDBi | HostDB:ENSG00000172350.9 |
Subcellular locationi
Other locations
- Membrane Curated; Multi-pass membrane protein Curated
Plasma Membrane
- plasma membrane Source: GO_Central
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 393 | CytoplasmicSequence analysisAdd BLAST | 393 | |
Transmembranei | 394 – 414 | Helical; Name=1Sequence analysisAdd BLAST | 21 | |
Topological domaini | 415 – 425 | ExtracellularSequence analysisAdd BLAST | 11 | |
Transmembranei | 426 – 446 | Helical; Name=2Sequence analysisAdd BLAST | 21 | |
Topological domaini | 447 – 472 | CytoplasmicSequence analysisAdd BLAST | 26 | |
Transmembranei | 473 – 493 | Helical; Name=3Sequence analysisAdd BLAST | 21 | |
Topological domaini | 494 – 503 | ExtracellularSequence analysis | 10 | |
Transmembranei | 504 – 524 | Helical; Name=4Sequence analysisAdd BLAST | 21 | |
Topological domaini | 525 – 532 | CytoplasmicSequence analysis | 8 | |
Transmembranei | 533 – 553 | Helical; Name=5Sequence analysisAdd BLAST | 21 | |
Topological domaini | 554 – 617 | ExtracellularSequence analysisAdd BLAST | 64 | |
Transmembranei | 618 – 638 | Helical; Name=6Sequence analysisAdd BLAST | 21 | |
Topological domaini | 639 – 646 | CytoplasmicSequence analysis | 8 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 64137 |
OpenTargetsi | ENSG00000172350 |
PharmGKBi | PA24410 |
Miscellaneous databases
Pharosi | Q9H172, Tbio |
Genetic variation databases
BioMutai | ABCG4 |
DMDMi | 17432915 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000093392 | 1 – 646 | ATP-binding cassette sub-family G member 4Add BLAST | 646 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 422 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
MassIVEi | Q9H172 |
PaxDbi | Q9H172 |
PeptideAtlasi | Q9H172 |
PRIDEi | Q9H172 |
ProteomicsDBi | 80375 [Q9H172-1] |
PTM databases
GlyGeni | Q9H172, 1 site |
iPTMneti | Q9H172 |
PhosphoSitePlusi | Q9H172 |
Expressioni
Tissue specificityi
Highly expressed in brain tissues with the exception of the spinal cord.1 Publication
Gene expression databases
Bgeei | ENSG00000172350, Expressed in right hemisphere of cerebellum and 146 other tissues |
ExpressionAtlasi | Q9H172, baseline and differential |
Genevisiblei | Q9H172, HS |
Organism-specific databases
HPAi | ENSG00000172350, Group enriched (brain, parathyroid gland, retina, testis) |
Interactioni
Binary interactionsi
Hide detailsQ9H172
GO - Molecular functioni
- protein heterodimerization activity Source: BHF-UCL
- protein homodimerization activity Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 122083, 7 interactors |
IntActi | Q9H172, 7 interactors |
MINTi | Q9H172 |
STRINGi | 9606.ENSP00000481728 |
Miscellaneous databases
RNActi | Q9H172, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 61 – 301 | ABC transporterPROSITE-ProRule annotationAdd BLAST | 241 | |
Domaini | 386 – 641 | ABC transmembrane type-2Add BLAST | 256 |
Sequence similaritiesi
Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily. [View classification]Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0061, Eukaryota |
GeneTreei | ENSGT00940000157853 |
HOGENOMi | CLU_000604_57_6_1 |
InParanoidi | Q9H172 |
OMAi | LPRFWYY |
OrthoDBi | 324553at2759 |
PhylomeDBi | Q9H172 |
TreeFami | TF105210 |
Family and domain databases
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR013525, ABC_2_trans IPR003439, ABC_transporter-like IPR017871, ABC_transporter_CS IPR043926, ABCG_dom IPR027417, P-loop_NTPase |
Pfami | View protein in Pfam PF01061, ABC2_membrane, 1 hit PF19055, ABC2_membrane_7, 1 hit PF00005, ABC_tran, 1 hit |
SMARTi | View protein in SMART SM00382, AAA, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS00211, ABC_TRANSPORTER_1, 1 hit PS50893, ABC_TRANSPORTER_2, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9H172-1) [UniParc]FASTAAdd to basket
Also known as: B
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAEKALEAVG CGLGPGAVAM AVTLEDGAEP PVLTTHLKKV ENHITEAQRF
60 70 80 90 100
SHLPKRSAVD IEFVELSYSV REGPCWRKRG YKTLLKCLSG KFCRRELIGI
110 120 130 140 150
MGPSGAGKST FMNILAGYRE SGMKGQILVN GRPRELRTFR KMSCYIMQDD
160 170 180 190 200
MLLPHLTVLE AMMVSANLKL SEKQEVKKEL VTEILTALGL MSCSHTRTAL
210 220 230 240 250
LSGGQRKRLA IALELVNNPP VMFFDEPTSG LDSASCFQVV SLMKSLAQGG
260 270 280 290 300
RTIICTIHQP SAKLFEMFDK LYILSQGQCI FKGVVTNLIP YLKGLGLHCP
310 320 330 340 350
TYHNPADFII EVASGEYGDL NPMLFRAVQN GLCAMAEKKS SPEKNEVPAP
360 370 380 390 400
CPPCPPEVDP IESHTFATST LTQFCILFKR TFLSILRDTV LTHLRFMSHV
410 420 430 440 450
VIGVLIGLLY LHIGDDASKV FNNTGCLFFS MLFLMFAALM PTVLTFPLEM
460 470 480 490 500
AVFMREHLNY WYSLKAYYLA KTMADVPFQV VCPVVYCSIV YWMTGQPAET
510 520 530 540 550
SRFLLFSALA TATALVAQSL GLLIGAASNS LQVATFVGPV TAIPVLLFSG
560 570 580 590 600
FFVSFKTIPT YLQWSSYLSY VRYGFEGVIL TIYGMERGDL TCLEERCPFR
610 620 630 640
EPQSILRALD VEDAKLYMDF LVLGIFFLAL RLLAYLVLRY RVKSER
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketE9PJ00 | E9PJ00_HUMAN | ATP-binding cassette sub-family G m... | ABCG4 | 152 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_048141 | 352 | P → L. Corresponds to variant dbSNP:rs35060365EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_054266 | 1 – 100 | Missing in isoform 4. 1 PublicationAdd BLAST | 100 | |
Alternative sequenceiVSP_054267 | 1 – 79 | MAEKA…CWRKR → MRDLELREVKQLARGHTA in isoform 2. 1 PublicationAdd BLAST | 79 | |
Alternative sequenceiVSP_054268 | 1 – 79 | MAEKA…CWRKR → MCGFSHAFQKRIVAS in isoform 3. 1 PublicationAdd BLAST | 79 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ308237 mRNA Translation: CAC87131.1 AK289830 mRNA Translation: BAF82519.1 AK290035 mRNA Translation: BAF82724.1 CH471065 Genomic DNA Translation: EAW67464.1 CH471065 Genomic DNA Translation: EAW67465.1 CH471065 Genomic DNA Translation: EAW67466.1 BC041091 mRNA Translation: AAH41091.1 AY055472 Genomic DNA Translation: AAL16400.1 AY055472 Genomic DNA Translation: AAL16401.1 AY055472 Genomic DNA Translation: AAL16402.1 AJ300465 mRNA Translation: CAC17140.1 |
CCDSi | CCDS8415.1 [Q9H172-1] |
PIRi | JC7777 |
RefSeqi | NP_001135977.1, NM_001142505.1 [Q9H172-1] NP_001335120.1, NM_001348191.1 [Q9H172-1] NP_001335121.1, NM_001348192.1 [Q9H172-2] NP_071452.2, NM_022169.4 [Q9H172-1] XP_011541254.1, XM_011542952.2 [Q9H172-3] |
Genome annotation databases
Ensembli | ENST00000615496; ENSP00000479253; ENSG00000172350 [Q9H172-1] ENST00000619701; ENSP00000481728; ENSG00000172350 [Q9H172-1] ENST00000622721; ENSP00000484289; ENSG00000172350 [Q9H172-1] |
GeneIDi | 64137 |
KEGGi | hsa:64137 |
UCSCi | uc031yhk.2, human [Q9H172-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
ABCMdb Database for mutations in ABC proteins |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ308237 mRNA Translation: CAC87131.1 AK289830 mRNA Translation: BAF82519.1 AK290035 mRNA Translation: BAF82724.1 CH471065 Genomic DNA Translation: EAW67464.1 CH471065 Genomic DNA Translation: EAW67465.1 CH471065 Genomic DNA Translation: EAW67466.1 BC041091 mRNA Translation: AAH41091.1 AY055472 Genomic DNA Translation: AAL16400.1 AY055472 Genomic DNA Translation: AAL16401.1 AY055472 Genomic DNA Translation: AAL16402.1 AJ300465 mRNA Translation: CAC17140.1 |
CCDSi | CCDS8415.1 [Q9H172-1] |
PIRi | JC7777 |
RefSeqi | NP_001135977.1, NM_001142505.1 [Q9H172-1] NP_001335120.1, NM_001348191.1 [Q9H172-1] NP_001335121.1, NM_001348192.1 [Q9H172-2] NP_071452.2, NM_022169.4 [Q9H172-1] XP_011541254.1, XM_011542952.2 [Q9H172-3] |
3D structure databases
SMRi | Q9H172 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 122083, 7 interactors |
IntActi | Q9H172, 7 interactors |
MINTi | Q9H172 |
STRINGi | 9606.ENSP00000481728 |
Protein family/group databases
TCDBi | 3.A.1.204.20, the atp-binding cassette (abc) superfamily |
PTM databases
GlyGeni | Q9H172, 1 site |
iPTMneti | Q9H172 |
PhosphoSitePlusi | Q9H172 |
Genetic variation databases
BioMutai | ABCG4 |
DMDMi | 17432915 |
Proteomic databases
MassIVEi | Q9H172 |
PaxDbi | Q9H172 |
PeptideAtlasi | Q9H172 |
PRIDEi | Q9H172 |
ProteomicsDBi | 80375 [Q9H172-1] |
Protocols and materials databases
Antibodypediai | 32624, 191 antibodies |
Genome annotation databases
Ensembli | ENST00000615496; ENSP00000479253; ENSG00000172350 [Q9H172-1] ENST00000619701; ENSP00000481728; ENSG00000172350 [Q9H172-1] ENST00000622721; ENSP00000484289; ENSG00000172350 [Q9H172-1] |
GeneIDi | 64137 |
KEGGi | hsa:64137 |
UCSCi | uc031yhk.2, human [Q9H172-1] |
Organism-specific databases
CTDi | 64137 |
DisGeNETi | 64137 |
GeneCardsi | ABCG4 |
HGNCi | HGNC:13884, ABCG4 |
HPAi | ENSG00000172350, Group enriched (brain, parathyroid gland, retina, testis) |
MIMi | 607784, gene |
neXtProti | NX_Q9H172 |
OpenTargetsi | ENSG00000172350 |
PharmGKBi | PA24410 |
VEuPathDBi | HostDB:ENSG00000172350.9 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0061, Eukaryota |
GeneTreei | ENSGT00940000157853 |
HOGENOMi | CLU_000604_57_6_1 |
InParanoidi | Q9H172 |
OMAi | LPRFWYY |
OrthoDBi | 324553at2759 |
PhylomeDBi | Q9H172 |
TreeFami | TF105210 |
Enzyme and pathway databases
PathwayCommonsi | Q9H172 |
Reactomei | R-HSA-1369062, ABC transporters in lipid homeostasis |
Miscellaneous databases
BioGRID-ORCSi | 64137, 6 hits in 874 CRISPR screens |
GeneWikii | ABCG4 |
GenomeRNAii | 64137 |
Pharosi | Q9H172, Tbio |
PROi | PR:Q9H172 |
RNActi | Q9H172, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000172350, Expressed in right hemisphere of cerebellum and 146 other tissues |
ExpressionAtlasi | Q9H172, baseline and differential |
Genevisiblei | Q9H172, HS |
Family and domain databases
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR013525, ABC_2_trans IPR003439, ABC_transporter-like IPR017871, ABC_transporter_CS IPR043926, ABCG_dom IPR027417, P-loop_NTPase |
Pfami | View protein in Pfam PF01061, ABC2_membrane, 1 hit PF19055, ABC2_membrane_7, 1 hit PF00005, ABC_tran, 1 hit |
SMARTi | View protein in SMART SM00382, AAA, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS00211, ABC_TRANSPORTER_1, 1 hit PS50893, ABC_TRANSPORTER_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ABCG4_HUMAN | |
Accessioni | Q9H172Primary (citable) accession number: Q9H172 Secondary accession number(s): A8K1B5 Q8WWH2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 5, 2001 |
Last sequence update: | December 5, 2001 | |
Last modified: | February 10, 2021 | |
This is version 162 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants