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Protein

ATP-binding cassette sub-family G member 4

Gene

ABCG4

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

Functioni

May be involved in macrophage lipid homeostasis.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi102 – 1098ATPPROSITE-ProRule annotation

GO - Molecular functioni

  • ATPase activity Source: InterPro
  • ATP binding Source: UniProtKB-KW
  • cholesterol transporter activity Source: Reactome
  • protein heterodimerization activity Source: BHF-UCL
  • protein homodimerization activity Source: BHF-UCL

GO - Biological processi

  • cholesterol efflux Source: BHF-UCL
  • 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.

Protein family/group databases

TCDBi3.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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:13884. ABCG4.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 393393CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei394 – 41421Helical; Name=1Sequence AnalysisAdd
BLAST
Topological domaini415 – 42511ExtracellularSequence AnalysisAdd
BLAST
Transmembranei426 – 44621Helical; Name=2Sequence AnalysisAdd
BLAST
Topological domaini447 – 47226CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei473 – 49321Helical; Name=3Sequence AnalysisAdd
BLAST
Topological domaini494 – 50310ExtracellularSequence Analysis
Transmembranei504 – 52421Helical; Name=4Sequence AnalysisAdd
BLAST
Topological domaini525 – 5328CytoplasmicSequence Analysis
Transmembranei533 – 55321Helical; Name=5Sequence AnalysisAdd
BLAST
Topological domaini554 – 61764ExtracellularSequence AnalysisAdd
BLAST
Transmembranei618 – 63821Helical; Name=6Sequence AnalysisAdd
BLAST
Topological domaini639 – 6468CytoplasmicSequence Analysis

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA24410.

Polymorphism and mutation databases

BioMutaiABCG4.
DMDMi17432915.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 646646ATP-binding cassette sub-family G member 4PRO_0000093392Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi422 – 4221N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9H172.
PRIDEiQ9H172.

PTM databases

PhosphoSiteiQ9H172.

Expressioni

Tissue specificityi

Highly expressed in brain tissues with the exception of the spinal cord.1 Publication

Gene expression databases

BgeeiQ9H172.
CleanExiHS_ABCG4.
ExpressionAtlasiQ9H172. baseline and differential.
GenevisibleiQ9H172. HS.

Organism-specific databases

HPAiHPA040312.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
ABCG1P45844-42EBI-8584118,EBI-8584087

Protein-protein interaction databases

BioGridi122083. 1 interaction.
IntActiQ9H172. 2 interactions.
MINTiMINT-2840344.
STRINGi9606.ENSP00000304111.

Structurei

3D structure databases

ProteinModelPortaliQ9H172.
SMRiQ9H172. Positions 52-331.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini61 – 301241ABC transporterPROSITE-ProRule annotationAdd
BLAST
Domaini386 – 641256ABC transmembrane type-2Add
BLAST

Sequence similaritiesi

Contains 1 ABC transporter domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1131.
GeneTreeiENSGT00740000114855.
HOGENOMiHOG000236364.
HOVERGENiHBG103052.
InParanoidiQ9H172.
KOiK05680.
OMAiHLRFVSH.
OrthoDBiEOG7KWSGT.
PhylomeDBiQ9H172.
TreeFamiTF105210.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR003593. AAA+_ATPase.
IPR013525. ABC_2_trans.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
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.
PROSITEiPS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H172-1) [UniParc]FASTAAdd to basket

Also known as: B

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
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
Length:646
Mass (Da):71,896
Last modified:December 5, 2001 - v2
Checksum:i9CCEC6E150772611
GO
Isoform 2 (identifier: Q9H172-2) [UniParc]FASTAAdd to basket

Also known as: T3, T4

The sequence of this isoform differs from the canonical sequence as follows:
     1-79: MAEKALEAVG...VREGPCWRKR → MRDLELREVKQLARGHTA

Show »
Length:585
Mass (Da):65,389
Checksum:iD5F84C0CCADAB9A3
GO
Isoform 3 (identifier: Q9H172-3) [UniParc]FASTAAdd to basket

Also known as: M, T1

The sequence of this isoform differs from the canonical sequence as follows:
     1-79: MAEKALEAVG...VREGPCWRKR → MCGFSHAFQKRIVAS

Show »
Length:582
Mass (Da):64,948
Checksum:iAA379CF6C876A9EE
GO
Isoform 4 (identifier: Q9H172-4) [UniParc]FASTAAdd to basket

Also known as: T2

The sequence of this isoform differs from the canonical sequence as follows:
     1-100: Missing.

Show »
Length:546
Mass (Da):60,903
Checksum:iBCDB4BCAA06C46B3
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti352 – 3521P → L.
Corresponds to variant rs35060365 [ dbSNP | Ensembl ].
VAR_048141

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 100100Missing in isoform 4. 1 PublicationVSP_054266Add
BLAST
Alternative sequencei1 – 7979MAEKA…CWRKR → MRDLELREVKQLARGHTA in isoform 2. 1 PublicationVSP_054267Add
BLAST
Alternative sequencei1 – 7979MAEKA…CWRKR → MCGFSHAFQKRIVAS in isoform 3. 1 PublicationVSP_054268Add
BLAST

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.
CCDSiCCDS8415.1. [Q9H172-1]
PIRiJC7777.
RefSeqiNP_001135977.1. NM_001142505.1. [Q9H172-1]
NP_071452.2. NM_022169.4. [Q9H172-1]
UniGeneiHs.126378.

Genome annotation databases

EnsembliENST00000615496; ENSP00000479253; ENSG00000172350. [Q9H172-1]
ENST00000619701; ENSP00000481728; ENSG00000172350. [Q9H172-1]
ENST00000622721; ENSP00000484289; ENSG00000172350. [Q9H172-1]
GeneIDi64137.
KEGGihsa:64137.
UCSCiuc001pvs.3. human. [Q9H172-1]

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
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.
CCDSiCCDS8415.1. [Q9H172-1]
PIRiJC7777.
RefSeqiNP_001135977.1. NM_001142505.1. [Q9H172-1]
NP_071452.2. NM_022169.4. [Q9H172-1]
UniGeneiHs.126378.

3D structure databases

ProteinModelPortaliQ9H172.
SMRiQ9H172. Positions 52-331.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122083. 1 interaction.
IntActiQ9H172. 2 interactions.
MINTiMINT-2840344.
STRINGi9606.ENSP00000304111.

Protein family/group databases

TCDBi3.A.1.204.20. the atp-binding cassette (abc) superfamily.

PTM databases

PhosphoSiteiQ9H172.

Polymorphism and mutation databases

BioMutaiABCG4.
DMDMi17432915.

Proteomic databases

PaxDbiQ9H172.
PRIDEiQ9H172.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000615496; ENSP00000479253; ENSG00000172350. [Q9H172-1]
ENST00000619701; ENSP00000481728; ENSG00000172350. [Q9H172-1]
ENST00000622721; ENSP00000484289; ENSG00000172350. [Q9H172-1]
GeneIDi64137.
KEGGihsa:64137.
UCSCiuc001pvs.3. human. [Q9H172-1]

Organism-specific databases

CTDi64137.
GeneCardsiGC11P119019.
HGNCiHGNC:13884. ABCG4.
HPAiHPA040312.
MIMi607784. gene.
neXtProtiNX_Q9H172.
PharmGKBiPA24410.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG1131.
GeneTreeiENSGT00740000114855.
HOGENOMiHOG000236364.
HOVERGENiHBG103052.
InParanoidiQ9H172.
KOiK05680.
OMAiHLRFVSH.
OrthoDBiEOG7KWSGT.
PhylomeDBiQ9H172.
TreeFamiTF105210.

Enzyme and pathway databases

ReactomeiREACT_111158. ABCA transporters in lipid homeostasis.

Miscellaneous databases

GeneWikiiABCG4.
GenomeRNAii64137.
NextBioi66038.
PROiQ9H172.
SOURCEiSearch...

Gene expression databases

BgeeiQ9H172.
CleanExiHS_ABCG4.
ExpressionAtlasiQ9H172. baseline and differential.
GenevisibleiQ9H172. HS.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR003593. AAA+_ATPase.
IPR013525. ABC_2_trans.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
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.
PROSITEiPS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The human ABCG4 gene is regulated by oxysterols and retinoids in monocyte-derived macrophages."
    Engel T., Lorkowski S., Lueken A., Rust S., Schlueter B., Berger G., Cullen P., Assmann G.
    Biochem. Biophys. Res. Commun. 288:483-488(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain and Hippocampus.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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 1).
    Tissue: Brain.
  5. "Human and mouse orthologs of a new ATP-binding cassette gene, ABCG4."
    Annilo T., Tammur J., Hutchinson A., Rzhetsky A., Dean M., Allikmets R.
    Cytogenet. Cell Genet. 94:196-201(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-118 (ISOFORMS 2; 3 AND 4), ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
    Tissue: Lung.
  6. "ABCG4: a novel human white family ABC-transporter expressed in the brain and eye."
    Oldfield S., Lowry C., Ruddick J., Lightman S.
    Biochim. Biophys. Acta 1591:175-179(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 20-646 (ISOFORM 1).
    Tissue: Spinal ganglion.

Entry informationi

Entry nameiABCG4_HUMAN
AccessioniPrimary (citable) accession number: Q9H172
Secondary accession number(s): A8K1B5
, Q8WWH0, Q8WWH1, Q8WWH2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 5, 2001
Last sequence update: December 5, 2001
Last modified: June 24, 2015
This is version 122 of the entry and version 2 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 11
    Human chromosome 11: 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

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 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.