Q9H172 (ABCG4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
ATP-binding cassette sub-family G member 4

Gene names

Name:	ABCG4
Synonyms:	WHITE2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	646 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	May be involved in macrophage lipid homeostasis.
Subcellular location	Membrane; Multi-pass membrane protein Probable.
Sequence similarities	Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily. [View classification] Contains 1 ABC transmembrane type-2 domain. Contains 1 ABC transporter domain.

Ontologies

Keywords
Biological process	Transport
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane helix
Ligand	ATP-binding Nucleotide-binding
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ATP catabolic process Inferred from electronic annotation. Source: GOC cholesterol efflux Traceable author statement PubMed 16682745. Source: BHF-UCL transmembrane transport Traceable author statement. Source: Reactome
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Traceable author statement. Source: Reactome
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW ATPase activity Inferred from electronic annotation. Source: InterPro cholesterol transporter activity Traceable author statement. Source: Reactome protein homodimerization activity Inferred from direct assay PubMed 16870176. Source: BHF-UCL
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 646	646	ATP-binding cassette sub-family G member 4		PRO_0000093392
Regions
	Topological domain	1 – 393	393	Cytoplasmic Potential
	Transmembrane	394 – 414	21	Helical; Name=1; Potential
	Topological domain	415 – 425	11	Extracellular Potential
	Transmembrane	426 – 446	21	Helical; Name=2; Potential
	Topological domain	447 – 472	26	Cytoplasmic Potential
	Transmembrane	473 – 493	21	Helical; Name=3; Potential
	Topological domain	494 – 503	10	Extracellular Potential
	Transmembrane	504 – 524	21	Helical; Name=4; Potential
	Topological domain	525 – 532	8	Cytoplasmic Potential
	Transmembrane	533 – 553	21	Helical; Name=5; Potential
	Topological domain	554 – 617	64	Extracellular Potential
	Transmembrane	618 – 638	21	Helical; Name=6; Potential
	Topological domain	639 – 646	8	Cytoplasmic Potential
	Domain	61 – 301	241	ABC transporter
	Domain	386 – 641	256	ABC transmembrane type-2
	Nucleotide binding	102 – 109	8	ATP Potential
Amino acid modifications
	Glycosylation	422	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	352	1	P → L. Corresponds to variant rs35060365 [ dbSNP | Ensembl ].		VAR_048141

Sequences

	Sequence		Length	Mass (Da)
	Q9H172 [UniParc]. Last modified December 5, 2001. Version 2. Checksum: 9CCEC6E150772611	FASTA	646	71,896
	10 20 30 40 50 60 MAEKALEAVG CGLGPGAVAM AVTLEDGAEP PVLTTHLKKV ENHITEAQRF SHLPKRSAVD 70 80 90 100 110 120 IEFVELSYSV REGPCWRKRG YKTLLKCLSG KFCRRELIGI MGPSGAGKST FMNILAGYRE 130 140 150 160 170 180 SGMKGQILVN GRPRELRTFR KMSCYIMQDD MLLPHLTVLE AMMVSANLKL SEKQEVKKEL 190 200 210 220 230 240 VTEILTALGL MSCSHTRTAL LSGGQRKRLA IALELVNNPP VMFFDEPTSG LDSASCFQVV 250 260 270 280 290 300 SLMKSLAQGG RTIICTIHQP SAKLFEMFDK LYILSQGQCI FKGVVTNLIP YLKGLGLHCP 310 320 330 340 350 360 TYHNPADFII EVASGEYGDL NPMLFRAVQN GLCAMAEKKS SPEKNEVPAP CPPCPPEVDP 370 380 390 400 410 420 IESHTFATST LTQFCILFKR TFLSILRDTV LTHLRFMSHV VIGVLIGLLY LHIGDDASKV 430 440 450 460 470 480 FNNTGCLFFS MLFLMFAALM PTVLTFPLEM AVFMREHLNY WYSLKAYYLA KTMADVPFQV 490 500 510 520 530 540 VCPVVYCSIV YWMTGQPAET SRFLLFSALA TATALVAQSL GLLIGAASNS LQVATFVGPV 550 560 570 580 590 600 TAIPVLLFSG FFVSFKTIPT YLQWSSYLSY VRYGFEGVIL TIYGMERGDL TCLEERCPFR 610 620 630 640 EPQSILRALD VEDAKLYMDF LVLGIFFLAL RLLAYLVLRY RVKSER

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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].
[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]. Tissue: Brain and Hippocampus.
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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]. Tissue: Brain.
[5]	"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. Tissue: Spinal ganglion.
+	Additional computationally mapped references.

Web resources

ABCMdb

Database for mutations in ABC proteins

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ308237 mRNA. Translation: CAC87131.1. AK289830 mRNA. Translation: BAF82519.1. AK290035 mRNA. Translation: BAF82724.1. CH471065 Genomic DNA. Translation: EAW67466.1. BC041091 mRNA. Translation: AAH41091.1. AJ300465 mRNA. Translation: CAC17140.1.
IPI	IPI00005579.
PIR	JC7777.
RefSeq	NP_001135977.1. NM_001142505.1. NP_071452.2. NM_022169.4.
UniGene	Hs.126378.
3D structure databases
ProteinModelPortal	Q9H172.
ModBase	Search...
Protein-protein interaction databases
MINT	MINT-2840344.
STRING	9606.ENSP00000304111.
PTM databases
PhosphoSite	Q9H172.
Polymorphism databases
DMDM	17432915.
Proteomic databases
PaxDb	Q9H172.
PRIDE	Q9H172.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000307417; ENSP00000304111; ENSG00000172350. ENST00000449422; ENSP00000406874; ENSG00000172350. ENST00000531739; ENSP00000434318; ENSG00000172350.
GeneID	64137.
KEGG	hsa:64137.
UCSC	uc001pvs.3. human.
Organism-specific databases
CTD	64137.
GeneCards	GC11P119019.
HGNC	HGNC:13884. ABCG4.
HPA	HPA040312.
MIM	607784. gene.
neXtProt	NX_Q9H172.
PharmGKB	PA24410.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1131.
HOGENOM	HOG000236364.
HOVERGEN	HBG103052.
InParanoid	Q9H172.
KO	K05680.
OMA	THLRFVS.
OrthoDB	EOG4WDDBB.
PhylomeDB	Q9H172.
Enzyme and pathway databases
Reactome	REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
ArrayExpress	Q9H172.
Bgee	Q9H172.
CleanEx	HS_ABCG4.
Genevestigator	Q9H172.
GermOnline	ENSG00000172350. Homo sapiens.
Family and domain databases
InterPro	IPR003593. AAA+_ATPase. IPR013525. ABC_2_trans. IPR003439. ABC_transporter-like. IPR017871. ABC_transporter_CS. IPR020064. ABC_transptr_G1-like. IPR027417. P-loop_NTPase. [Graphical view]
PANTHER	PTHR19241:SF21. PTHR19241:SF21. 1 hit.
Pfam	PF01061. ABC2_membrane. 1 hit. PF00005. ABC_tran. 1 hit. [Graphical view]
SMART	SM00382. AAA. 1 hit. [Graphical view]
SUPFAM	SSF52540. SSF52540. 1 hit.
PROSITE	PS51012. ABC_TM2. False negative. PS00211. ABC_TRANSPORTER_1. 1 hit. PS50893. ABC_TRANSPORTER_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	64137.
NextBio	66038.
SOURCE	Search...

Entry information

Entry name

ABCG4_HUMAN

Accession

Primary (citable) accession number: Q9H172
Secondary accession number(s): A8K1B5

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 5, 2001
Last sequence update:	December 5, 2001
Last modified:	May 29, 2013
This is version 105 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.