Reviewed, UniProtKB/Swiss-Prot Q9H172 (ABCG4_HUMAN)

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) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	646 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
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
Ligand	ATP-binding Nucleotide-binding
PTM	Glycoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	cholesterol efflux Traceable author statement. Source: UniProtKB
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW ATPase activity Inferred from electronic annotation. Source: InterPro protein heterodimerization activity Inferred from physical interaction. Source: UniProtKB protein homodimerization activity Inferred from direct assay. Source: UniProtKB
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	1 Potential
	Topological domain	415 – 425	11	Extracellular Potential
	Transmembrane	426 – 446	21	2 Potential
	Topological domain	447 – 472	26	Cytoplasmic Potential
	Transmembrane	473 – 493	21	3 Potential
	Topological domain	494 – 503	10	Extracellular Potential
	Transmembrane	504 – 524	21	4 Potential
	Topological domain	525 – 532	8	Cytoplasmic Potential
	Transmembrane	533 – 553	21	5 Potential
	Topological domain	554 – 617	64	Extracellular Potential
	Transmembrane	618 – 638	21	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: dbSNP rs35060365.		VAR_048141

Sequences

	Sequence		Length	Mass (Da)
	Q9H172-1 [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: 11606068] [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: 14702039] [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: 15489334] [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: 12183068] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 20-646. Tissue: Spinal ganglion.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	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. NP_071452.2.
UniGene	Hs.126378
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q9H172.
Proteomic databases
PRIDE	Q9H172.
Genome annotation databases
Ensembl	ENST00000307417; ENSP00000304111; ENSG00000172350; Homo sapiens. [Genome view] ENST00000449422; ENSP00000406874; ENSG00000172350; Homo sapiens. [Genome view]
GeneID	64137.
KEGG	hsa:64137.
UCSC	uc001pvs.1. human.
Organism-specific databases
CTD	64137.
GeneCards	GC11P118524.
H-InvDB	HIX0010284.
HGNC	HGNC:13884. ABCG4.
MIM	607784. gene.
PharmGKB	PA24410.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q9H172.
HOVERGEN	Q9H172.
OMA	LHIGNDA
OrthoDB	EOG9ZPHFN
Gene expression databases
ArrayExpress	Q9H172.
Bgee	Q9H172.
CleanEx	HS_ABCG4.
Genevestigator	Q9H172.
GermOnline	ENSG00000172350. Homo sapiens.
Family and domain databases
InterPro	IPR013525. ABC_2_trans. IPR003439. ABC_transporter-like. IPR017871. ABC_transporter_CS. IPR020064. ABC_transptr_G1-like. IPR003593. ATPase_AAA+_core. [Graphical view]
PANTHER	PTHR19241:SF21. ABC_transptr_G1-like. 1 hit.
Pfam	PF01061. ABC2_membrane. 1 hit. PF00005. ABC_tran. 1 hit. [Graphical view]
SMART	SM00382. AAA. 1 hit. [Graphical view]
PROSITE	PS51012. ABC_TM2. False negative. PS00211. ABC_TRANSPORTER_1. 1 hit. PS50893. ABC_TRANSPORTER_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
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:	November 24, 2009
This is version 75 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.