ATP-binding cassette sub-family G member 1

Preferred order of sections

Names and origin

Protein names

Recommended name:
ATP-binding cassette sub-family G member 1

Alternative name(s):
ATP-binding cassette transporter 8
White protein homolog

Gene names

Name:	ABCG1
Synonyms:	ABC8, WHT1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	678 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Transporter involved in macrophage lipid homeostasis. Is an active component of the macrophage lipid export complex. Could also be involved in intracellular lipid transport processes. The role in cellular lipid homeostasis may not be limited to macrophages. Ref.9 Ref.10
Subunit structure	May form heterodimers with several heterologous partners of the ABCG subfamily.
Subcellular location	Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Note: Predominantly localized in the intracellular compartments mainly associated with the endoplasmic reticulum (ER) and Golgi membranes.
Tissue specificity	Expressed in several tissues. Expressed in macrophages; expression is increased in macrophages from patients with Tangier disease. Ref.13
Induction	Strongly induced in monocyte-derived macrophages during cholesterol influx. Conversely, mRNA and protein expression are suppressed by lipid efflux. Induction is mediated by the liver X receptor/retinoid X receptor (LXR/RXR) pathway. Not induced by bacterial lipopolysaccharides (LPS). Repressed by ZNF202. Ref.9 Ref.10 Ref.11
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.
Sequence caution	The sequence AAC51098.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence AAK28841.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAA95530.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAB13728.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence CAA62631.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence CAC00730.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Biological process	Lipid transport Transport
Cellular component	Endoplasmic reticulum Golgi apparatus Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Ligand	ATP-binding Nucleotide-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	amyloid precursor protein catabolic process Inferred from direct assay. Source: BHF-UCL cholesterol efflux Inferred from direct assay. Source: BHF-UCL cholesterol homeostasis Inferred from direct assay. Source: BHF-UCL cholesterol metabolic process Inferred from direct assay. Source: BHF-UCL detection of hormone stimulus Non-traceable author statement Ref.5. Source: UniProtKB high-density lipoprotein particle remodeling Inferred from sequence or structural similarity. Source: BHF-UCL intracellular cholesterol transport Inferred from mutant phenotype. Source: BHF-UCL lipoprotein metabolic process Traceable author statement. Source: Reactome low-density lipoprotein particle remodeling Inferred from sequence or structural similarity. Source: BHF-UCL negative regulation of cholesterol storage Traceable author statement. Source: BHF-UCL negative regulation of macrophage derived foam cell differentiation Traceable author statement. Source: BHF-UCL phospholipid efflux Inferred from mutant phenotype. Source: BHF-UCL phospholipid homeostasis Inferred from mutant phenotype. Source: BHF-UCL positive regulation of cholesterol biosynthetic process Inferred from sequence or structural similarity. Source: BHF-UCL regulation of cholesterol esterification Inferred from sequence or structural similarity. Source: BHF-UCL regulation of transcription, DNA-dependent Inferred from sequence or structural similarity. Source: BHF-UCL response to lipid Inferred from direct assay. Source: BHF-UCL reverse cholesterol transport Inferred from sequence or structural similarity. Source: BHF-UCL
Cellular component	Golgi membrane Inferred from electronic annotation. Source: UniProtKB-SubCell endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell external side of plasma membrane Inferred from direct assay. Source: BHF-UCL integral to plasma membrane Inferred by curator Ref.5. Source: UniProtKB recycling endosome Inferred from sequence or structural similarity. Source: BHF-UCL
Molecular function	ADP binding Inferred from direct assay. Source: BHF-UCL ATP binding Inferred from direct assay. Source: BHF-UCL cholesterol binding Inferred by curator. Source: BHF-UCL cholesterol transporter activity Inferred from direct assay. Source: BHF-UCL glycoprotein transporter activity Inferred from direct assay. Source: BHF-UCL phospholipid binding Inferred by curator. Source: BHF-UCL phospholipid transporter activity Inferred from direct assay. Source: BHF-UCL protein heterodimerization activity Inferred from physical interaction. Source: BHF-UCL protein homodimerization activity Inferred from direct assay. Source: BHF-UCL sterol-transporting ATPase activity Inferred from direct assay. Source: BHF-UCL toxin transporter activity Inferred from direct assay. Source: BHF-UCL
Complete GO annotation...

Alternative products

This entry describes 8 isoforms produced by alternative splicing. [Align] [Select] Note: Additional isoforms seem to exist.

Isoform 1 (identifier: P45844-1) 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.

Isoform 2 (identifier: P45844-2) Also known as: J; The sequence of this isoform differs from the canonical sequence as follows: 1-14: MACLMAAFSVGTAM → MRISLPRAPERDGGVSASSLLDTVT 375-386: Missing.

Isoform 3 (identifier: P45844-3) Also known as: ABDE; The sequence of this isoform differs from the canonical sequence as follows: 1-14: MACLMAAFSVGTAM → MLGTQGWTKQRKPCPQ 375-386: Missing.

Isoform 4 (identifier: P45844-4) Also known as: G; The sequence of this isoform differs from the canonical sequence as follows: 375-386: Missing.

Isoform 5 (identifier: P45844-5) Also known as: F; The sequence of this isoform differs from the canonical sequence as follows: 1-14: MACLMAAFSVGTAM → MIMRLPQPHGT 375-386: Missing.

Isoform 6 (identifier: P45844-6) Also known as: HI; The sequence of this isoform differs from the canonical sequence as follows: 1-4: Missing. 375-386: Missing.

Isoform 7 (identifier: P45844-7) Also known as: C; The sequence of this isoform differs from the canonical sequence as follows: 1-22: Missing. 375-386: Missing.

Isoform 8 (identifier: P45844-8) The sequence of this isoform differs from the canonical sequence as follows: 1-95: MACLMAAFSV...VPEGPWWRKK → MVRRGWSVCT...WGFPGDPMEE

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 678

678

ATP-binding cassette sub-family G member 1

PRO_0000093384

Regions

Topological domain

1 – 426

426

Cytoplasmic Potential

Transmembrane

427 – 445

19

Helical; Potential

Topological domain

446 – 456

11

Extracellular Potential

Transmembrane

457 – 477

21

Helical; Potential

Topological domain

478 – 506

29

Cytoplasmic Potential

Transmembrane

507 – 525

19

Helical; Potential

Topological domain

526 – 533

8

Extracellular Potential

Transmembrane

534 – 555

22

Helical; Potential

Topological domain

556 – 567

12

Cytoplasmic Potential

Transmembrane

568 – 586

19

Helical; Potential

Topological domain

587 – 649

63

Extracellular Potential

Transmembrane

650 – 669

20

Helical; Potential

Topological domain

670 – 678

9

Cytoplasmic Potential

Domain

77 – 317

241

ABC transporter

Domain

415 – 673

259

ABC transmembrane type-2

Nucleotide binding

118 – 125

8

ATP Potential

Natural variations

Alternative sequence

1 – 95

95

MACLM…WWRKK → MVRRGWSVCTAILLARLWCL VPTHTFLSEYPEAAEYPHPG WVYWLQMAVAPGHLRAWVMR NNVTTNIPSAFSGTLTHEEK AVLTVFTGTATAVHVQVAAL ASAKLESSVFVTDCVSCKIE NVCDSALQGKRVPMSGLQGS SIVIMPPSNRPLASAASCTW SVQVQGGPHHLGVVAISGKV LSAAHGAGRAYGWGFPGDPM EE in isoform 8.

VSP_010718

Alternative sequence

1 – 22

22

Missing in isoform 7.

VSP_000050

Alternative sequence

1 – 14

14

MACLM…VGTAM → MRISLPRAPERDGGVSASSL LDTVT in isoform 2.

VSP_000047

Alternative sequence

1 – 14

14

MACLM…VGTAM → MLGTQGWTKQRKPCPQ in isoform 3.

VSP_000048

Alternative sequence

1 – 14

14

MACLM…VGTAM → MIMRLPQPHGT in isoform 5.

VSP_000049

Alternative sequence

1 – 4

4

Missing in isoform 6.

VSP_000046

Alternative sequence

375 – 386

12

Missing in isoform 2, isoform 3, isoform 4, isoform 5, isoform 6 and isoform 7.

VSP_000051

Natural variant

668

1

F → L. Ref.5

VAR_012279

Experimental info

Sequence conflict

38

1

S → T in AAK28839. Ref.4

Sequence conflict

38

1

S → T in AAK28841. Ref.4

Sequence conflict

448

1

A → T in CAA62631. Ref.1

Sequence conflict

448

1

A → T in AAK28838. Ref.4

Sequence conflict

448

1

A → T in AAK28839. Ref.4

Sequence conflict

448

1

A → T in AAK28840. Ref.4

Sequence conflict

448

1

A → T in AAK28841. Ref.4

Sequence conflict

448

1

A → T in AAK28842. Ref.4

Sequence conflict

448

1

A → T in AAL06598. Ref.5

Sequence conflict

533

1

R → A in AAC51098. Ref.8

Sequences

Sequence		Length	Mass (Da)
Isoform 1 [UniParc]. Last modified December 5, 2001. Version 3. Checksum: B901CABDA6C19E09 Show »	FASTA	678	75,592
10 20 30 40 50 60 MACLMAAFSV GTAMNASSYS AEMTEPKSVC VSVDEVVSSN MEATETDLLN GHLKKVDNNL 70 80 90 100 110 120 TEAQRFSSLP RRAAVNIEFR DLSYSVPEGP WWRKKGYKTL LKGISGKFNS GELVAIMGPS 130 140 150 160 170 180 GAGKSTLMNI LAGYRETGMK GAVLINGLPR DLRCFRKVSC YIMQDDMLLP HLTVQEAMMV 190 200 210 220 230 240 SAHLKLQEKD EGRREMVKEI LTALGLLSCA NTRTGSLSGG QRKRLAIALE LVNNPPVMFF 250 260 270 280 290 300 DEPTSGLDSA SCFQVVSLMK GLAQGGRSII CTIHQPSAKL FELFDQLYVL SQGQCVYRGK 310 320 330 340 350 360 VCNLVPYLRD LGLNCPTYHN PADFVMEVAS GEYGDQNSRL VRAVREGMCD SDHKRDLGGD 370 380 390 400 410 420 AEVNPFLWHR PSEEVKQTKR LKGLRKDSSS MEGCHSFSAS CLTQFCILFK RTFLSIMRDS 430 440 450 460 470 480 VLTHLRITSH IGIGLLIGLL YLGIGNEAKK VLSNSGFLFF SMLFLMFAAL MPTVLTFPLE 490 500 510 520 530 540 MGVFLREHLN YWYSLKAYYL AKTMADVPFQ IMFPVAYCSI VYWMTSQPSD AVRFVLFAAL 550 560 570 580 590 600 GTMTSLVAQS LGLLIGAAST SLQVATFVGP VTAIPVLLFS GFFVSFDTIP TYLQWMSYIS 610 620 630 640 650 660 YVRYGFEGVI LSIYGLDRED LHCDIDETCH FQKSEAILRE LDVENAKLYL DFIVLGIFFI 670 SLRLIAYFVL RYKIRAER « Hide
Isoform 2 (J) [UniParc]. Checksum: A08150CF2AF519E3 Show »	FASTA	677	75,380
10 20 30 40 50 60 MRISLPRAPE RDGGVSASSL LDTVTNASSY SAEMTEPKSV CVSVDEVVSS NMEATETDLL 70 80 90 100 110 120 NGHLKKVDNN LTEAQRFSSL PRRAAVNIEF RDLSYSVPEG PWWRKKGYKT LLKGISGKFN 130 140 150 160 170 180 SGELVAIMGP SGAGKSTLMN ILAGYRETGM KGAVLINGLP RDLRCFRKVS CYIMQDDMLL 190 200 210 220 230 240 PHLTVQEAMM VSAHLKLQEK DEGRREMVKE ILTALGLLSC ANTRTGSLSG GQRKRLAIAL 250 260 270 280 290 300 ELVNNPPVMF FDEPTSGLDS ASCFQVVSLM KGLAQGGRSI ICTIHQPSAK LFELFDQLYV 310 320 330 340 350 360 LSQGQCVYRG KVCNLVPYLR DLGLNCPTYH NPADFVMEVA SGEYGDQNSR LVRAVREGMC 370 380 390 400 410 420 DSDHKRDLGG DAEVNPFLWH RPSEEDSSSM EGCHSFSASC LTQFCILFKR TFLSIMRDSV 430 440 450 460 470 480 LTHLRITSHI GIGLLIGLLY LGIGNEAKKV LSNSGFLFFS MLFLMFAALM PTVLTFPLEM 490 500 510 520 530 540 GVFLREHLNY WYSLKAYYLA KTMADVPFQI MFPVAYCSIV YWMTSQPSDA VRFVLFAALG 550 560 570 580 590 600 TMTSLVAQSL GLLIGAASTS LQVATFVGPV TAIPVLLFSG FFVSFDTIPT YLQWMSYISY 610 620 630 640 650 660 VRYGFEGVIL SIYGLDREDL HCDIDETCHF QKSEAILREL DVENAKLYLD FIVLGIFFIS 670 LRLIAYFVLR YKIRAER « Hide
Isoform 3 (ABDE) [UniParc]. Checksum: A4184D543C1BC91E Show »	FASTA	668	74,611
10 20 30 40 50 60 MLGTQGWTKQ RKPCPQNASS YSAEMTEPKS VCVSVDEVVS SNMEATETDL LNGHLKKVDN 70 80 90 100 110 120 NLTEAQRFSS LPRRAAVNIE FRDLSYSVPE GPWWRKKGYK TLLKGISGKF NSGELVAIMG 130 140 150 160 170 180 PSGAGKSTLM NILAGYRETG MKGAVLINGL PRDLRCFRKV SCYIMQDDML LPHLTVQEAM 190 200 210 220 230 240 MVSAHLKLQE KDEGRREMVK EILTALGLLS CANTRTGSLS GGQRKRLAIA LELVNNPPVM 250 260 270 280 290 300 FFDEPTSGLD SASCFQVVSL MKGLAQGGRS IICTIHQPSA KLFELFDQLY VLSQGQCVYR 310 320 330 340 350 360 GKVCNLVPYL RDLGLNCPTY HNPADFVMEV ASGEYGDQNS RLVRAVREGM CDSDHKRDLG 370 380 390 400 410 420 GDAEVNPFLW HRPSEEDSSS MEGCHSFSAS CLTQFCILFK RTFLSIMRDS VLTHLRITSH 430 440 450 460 470 480 IGIGLLIGLL YLGIGNEAKK VLSNSGFLFF SMLFLMFAAL MPTVLTFPLE MGVFLREHLN 490 500 510 520 530 540 YWYSLKAYYL AKTMADVPFQ IMFPVAYCSI VYWMTSQPSD AVRFVLFAAL GTMTSLVAQS 550 560 570 580 590 600 LGLLIGAAST SLQVATFVGP VTAIPVLLFS GFFVSFDTIP TYLQWMSYIS YVRYGFEGVI 610 620 630 640 650 660 LSIYGLDRED LHCDIDETCH FQKSEAILRE LDVENAKLYL DFIVLGIFFI SLRLIAYFVL RYKIRAER « Hide
Isoform 4 (G) [UniParc]. Checksum: 0BBC80F8A08CA01B Show »	FASTA	666	74,155
10 20 30 40 50 60 MACLMAAFSV GTAMNASSYS AEMTEPKSVC VSVDEVVSSN MEATETDLLN GHLKKVDNNL 70 80 90 100 110 120 TEAQRFSSLP RRAAVNIEFR DLSYSVPEGP WWRKKGYKTL LKGISGKFNS GELVAIMGPS 130 140 150 160 170 180 GAGKSTLMNI LAGYRETGMK GAVLINGLPR DLRCFRKVSC YIMQDDMLLP HLTVQEAMMV 190 200 210 220 230 240 SAHLKLQEKD EGRREMVKEI LTALGLLSCA NTRTGSLSGG QRKRLAIALE LVNNPPVMFF 250 260 270 280 290 300 DEPTSGLDSA SCFQVVSLMK GLAQGGRSII CTIHQPSAKL FELFDQLYVL SQGQCVYRGK 310 320 330 340 350 360 VCNLVPYLRD LGLNCPTYHN PADFVMEVAS GEYGDQNSRL VRAVREGMCD SDHKRDLGGD 370 380 390 400 410 420 AEVNPFLWHR PSEEDSSSME GCHSFSASCL TQFCILFKRT FLSIMRDSVL THLRITSHIG 430 440 450 460 470 480 IGLLIGLLYL GIGNEAKKVL SNSGFLFFSM LFLMFAALMP TVLTFPLEMG VFLREHLNYW 490 500 510 520 530 540 YSLKAYYLAK TMADVPFQIM FPVAYCSIVY WMTSQPSDAV RFVLFAALGT MTSLVAQSLG 550 560 570 580 590 600 LLIGAASTSL QVATFVGPVT AIPVLLFSGF FVSFDTIPTY LQWMSYISYV RYGFEGVILS 610 620 630 640 650 660 IYGLDREDLH CDIDETCHFQ KSEAILRELD VENAKLYLDF IVLGIFFISL RLIAYFVLRY KIRAER « Hide
Isoform 5 (F) [UniParc]. Checksum: E9B3EB2B69D9AB20 Show »	FASTA	663	74,032
10 20 30 40 50 60 MIMRLPQPHG TNASSYSAEM TEPKSVCVSV DEVVSSNMEA TETDLLNGHL KKVDNNLTEA 70 80 90 100 110 120 QRFSSLPRRA AVNIEFRDLS YSVPEGPWWR KKGYKTLLKG ISGKFNSGEL VAIMGPSGAG 130 140 150 160 170 180 KSTLMNILAG YRETGMKGAV LINGLPRDLR CFRKVSCYIM QDDMLLPHLT VQEAMMVSAH 190 200 210 220 230 240 LKLQEKDEGR REMVKEILTA LGLLSCANTR TGSLSGGQRK RLAIALELVN NPPVMFFDEP 250 260 270 280 290 300 TSGLDSASCF QVVSLMKGLA QGGRSIICTI HQPSAKLFEL FDQLYVLSQG QCVYRGKVCN 310 320 330 340 350 360 LVPYLRDLGL NCPTYHNPAD FVMEVASGEY GDQNSRLVRA VREGMCDSDH KRDLGGDAEV 370 380 390 400 410 420 NPFLWHRPSE EDSSSMEGCH SFSASCLTQF CILFKRTFLS IMRDSVLTHL RITSHIGIGL 430 440 450 460 470 480 LIGLLYLGIG NEAKKVLSNS GFLFFSMLFL MFAALMPTVL TFPLEMGVFL REHLNYWYSL 490 500 510 520 530 540 KAYYLAKTMA DVPFQIMFPV AYCSIVYWMT SQPSDAVRFV LFAALGTMTS LVAQSLGLLI 550 560 570 580 590 600 GAASTSLQVA TFVGPVTAIP VLLFSGFFVS FDTIPTYLQW MSYISYVRYG FEGVILSIYG 610 620 630 640 650 660 LDREDLHCDI DETCHFQKSE AILRELDVEN AKLYLDFIVL GIFFISLRLI AYFVLRYKIR AER « Hide
Isoform 6 (HI) [UniParc]. Checksum: A40C0D83D0D42B35 Show »	FASTA	662	73,737
10 20 30 40 50 60 MAAFSVGTAM NASSYSAEMT EPKSVCVSVD EVVSSNMEAT ETDLLNGHLK KVDNNLTEAQ 70 80 90 100 110 120 RFSSLPRRAA VNIEFRDLSY SVPEGPWWRK KGYKTLLKGI SGKFNSGELV AIMGPSGAGK 130 140 150 160 170 180 STLMNILAGY RETGMKGAVL INGLPRDLRC FRKVSCYIMQ DDMLLPHLTV QEAMMVSAHL 190 200 210 220 230 240 KLQEKDEGRR EMVKEILTAL GLLSCANTRT GSLSGGQRKR LAIALELVNN PPVMFFDEPT 250 260 270 280 290 300 SGLDSASCFQ VVSLMKGLAQ GGRSIICTIH QPSAKLFELF DQLYVLSQGQ CVYRGKVCNL 310 320 330 340 350 360 VPYLRDLGLN CPTYHNPADF VMEVASGEYG DQNSRLVRAV REGMCDSDHK RDLGGDAEVN 370 380 390 400 410 420 PFLWHRPSEE DSSSMEGCHS FSASCLTQFC ILFKRTFLSI MRDSVLTHLR ITSHIGIGLL 430 440 450 460 470 480 IGLLYLGIGN EAKKVLSNSG FLFFSMLFLM FAALMPTVLT FPLEMGVFLR EHLNYWYSLK 490 500 510 520 530 540 AYYLAKTMAD VPFQIMFPVA YCSIVYWMTS QPSDAVRFVL FAALGTMTSL VAQSLGLLIG 550 560 570 580 590 600 AASTSLQVAT FVGPVTAIPV LLFSGFFVSF DTIPTYLQWM SYISYVRYGF EGVILSIYGL 610 620 630 640 650 660 DREDLHCDID ETCHFQKSEA ILRELDVENA KLYLDFIVLG IFFISLRLIA YFVLRYKIRA ER « Hide
Isoform 7 (C) [UniParc]. Checksum: 5124B0E187F391B8 Show »	FASTA	644	71,960
10 20 30 40 50 60 MTEPKSVCVS VDEVVSSNME ATETDLLNGH LKKVDNNLTE AQRFSSLPRR AAVNIEFRDL 70 80 90 100 110 120 SYSVPEGPWW RKKGYKTLLK GISGKFNSGE LVAIMGPSGA GKSTLMNILA GYRETGMKGA 130 140 150 160 170 180 VLINGLPRDL RCFRKVSCYI MQDDMLLPHL TVQEAMMVSA HLKLQEKDEG RREMVKEILT 190 200 210 220 230 240 ALGLLSCANT RTGSLSGGQR KRLAIALELV NNPPVMFFDE PTSGLDSASC FQVVSLMKGL 250 260 270 280 290 300 AQGGRSIICT IHQPSAKLFE LFDQLYVLSQ GQCVYRGKVC NLVPYLRDLG LNCPTYHNPA 310 320 330 340 350 360 DFVMEVASGE YGDQNSRLVR AVREGMCDSD HKRDLGGDAE VNPFLWHRPS EEDSSSMEGC 370 380 390 400 410 420 HSFSASCLTQ FCILFKRTFL SIMRDSVLTH LRITSHIGIG LLIGLLYLGI GNEAKKVLSN 430 440 450 460 470 480 SGFLFFSMLF LMFAALMPTV LTFPLEMGVF LREHLNYWYS LKAYYLAKTM ADVPFQIMFP 490 500 510 520 530 540 VAYCSIVYWM TSQPSDAVRF VLFAALGTMT SLVAQSLGLL IGAASTSLQV ATFVGPVTAI 550 560 570 580 590 600 PVLLFSGFFV SFDTIPTYLQ WMSYISYVRY GFEGVILSIY GLDREDLHCD IDETCHFQKS 610 620 630 640 EAILRELDVE NAKLYLDFIV LGIFFISLRL IAYFVLRYKI RAER « Hide
Isoform 8 [UniParc]. Checksum: 3E17CE17CA58C7EF Show »	FASTA	785	86,628
10 20 30 40 50 60 MVRRGWSVCT AILLARLWCL VPTHTFLSEY PEAAEYPHPG WVYWLQMAVA PGHLRAWVMR 70 80 90 100 110 120 NNVTTNIPSA FSGTLTHEEK AVLTVFTGTA TAVHVQVAAL ASAKLESSVF VTDCVSCKIE 130 140 150 160 170 180 NVCDSALQGK RVPMSGLQGS SIVIMPPSNR PLASAASCTW SVQVQGGPHH LGVVAISGKV 190 200 210 220 230 240 LSAAHGAGRA YGWGFPGDPM EEGYKTLLKG ISGKFNSGEL VAIMGPSGAG KSTLMNILAG 250 260 270 280 290 300 YRETGMKGAV LINGLPRDLR CFRKVSCYIM QDDMLLPHLT VQEAMMVSAH LKLQEKDEGR 310 320 330 340 350 360 REMVKEILTA LGLLSCANTR TGSLSGGQRK RLAIALELVN NPPVMFFDEP TSGLDSASCF 370 380 390 400 410 420 QVVSLMKGLA QGGRSIICTI HQPSAKLFEL FDQLYVLSQG QCVYRGKVCN LVPYLRDLGL 430 440 450 460 470 480 NCPTYHNPAD FVMEVASGEY GDQNSRLVRA VREGMCDSDH KRDLGGDAEV NPFLWHRPSE 490 500 510 520 530 540 EVKQTKRLKG LRKDSSSMEG CHSFSASCLT QFCILFKRTF LSIMRDSVLT HLRITSHIGI 550 560 570 580 590 600 GLLIGLLYLG IGNEAKKVLS NSGFLFFSML FLMFAALMPT VLTFPLEMGV FLREHLNYWY 610 620 630 640 650 660 SLKAYYLAKT MADVPFQIMF PVAYCSIVYW MTSQPSDAVR FVLFAALGTM TSLVAQSLGL 670 680 690 700 710 720 LIGAASTSLQ VATFVGPVTA IPVLLFSGFF VSFDTIPTYL QWMSYISYVR YGFEGVILSI 730 740 750 760 770 780 YGLDREDLHC DIDETCHFQK SEAILRELDV ENAKLYLDFI VLGIFFISLR LIAYFVLRYK IRAER « Hide

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3." Chen H.M., Rossier C., Lalioti M.D., Lynn A., Chakravarti A., Perrin G., Antonarakis S.E. Am. J. Hum. Genet. 59:66-75(1996) [PubMed: 8659545] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 3-678 (ISOFORMS 1 AND 4). Tissue: Retina.
[2]	"Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region." Berry A., Scott H.S., Kudoh J., Talior I., Korostishevsky M., Wattenhofer M., Guipponi M., Barras C., Rossier C., Shibuya K., Wang J., Kawasaki K., Asakawa S., Minoshima S., Shimizu N., Antonarakis S.E., Bonne-Tamir B. Genomics 68:22-29(2000) [PubMed: 10950923] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
[3]	"The zinc finger protein 202 (ZNF202) is a transcriptional repressor of ATP binding cassette transporter A1 (ABCA1) and ABCG1 gene expression and a modulator of cellular lipid efflux." Porsch-Oezcueruemez M., Langmann T., Heimerl S., Borsukova H., Kaminski W.E., Drobnik W., Honer C., Schumacher C., Schmitz G. J. Biol. Chem. 276:12427-12433(2001) [PubMed: 11279031] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), REPRESSION BY ZNF202.
[4]	"Genomic sequence and structure of the human ABCG1 (ABC8) gene." Lorkowski S., Rust S., Engel T., Jung E., Tegelkamp K., Galinski E.A., Assmann G., Cullen P. Biochem. Biophys. Res. Commun. 280:121-131(2001) [PubMed: 11162488] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 2; 3; 4; 5; 6 AND 7).
[5]	"Characterization of the human ABCG1 gene: liver X receptor activates an internal promoter that produces a novel transcript encoding an alternative form of the protein." Kennedy M.A., Venkateswaran A., Tarr P.T., Xenarios I., Kudoh J., Shimizu N., Edwards P.A. J. Biol. Chem. 276:39438-39447(2001) [PubMed: 11500512] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 8), VARIANT LEU-668.
[6]	"The DNA sequence of human chromosome 21." Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A. Yaspo M.-L. Nature 405:311-319(2000) [PubMed: 10830953] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] (ISOFORM 1).
[7]	"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] (ISOFORM 4). Tissue: Brain.
[8]	"Isolation and characterization of a mammalian homolog of the Drosophila white gene." Croop J.M., Tiller G.E., Fletcher J.A., Lux M.L., Raab E., Goldenson D., Son D., Arciniegas S., Wu R. Gene 185:77-85(1997) [PubMed: 9034316] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 33-678. Tissue: Fetal brain.
[9]	"Human white/murine ABC8 mRNA levels are highly induced in lipid-loaded macrophages. A transcriptional role for specific oxysterols." Venkateswaran A., Repa J.J., Lobaccaro J.-M.A., Bronson A., Mangelsdorf D.J., Edwards P.A. J. Biol. Chem. 275:14700-14707(2000) [PubMed: 10799558] [Abstract] Cited for: INDUCTION, PROBABLE FUNCTION.
[10]	"ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport." Klucken J., Buechler C., Orso E., Kaminski W.E., Porsch-Oezcueruemez M., Liebisch G., Kapinsky M., Diederich W., Drobnik W., Dean M., Allikmets R., Schmitz G. Proc. Natl. Acad. Sci. U.S.A. 97:817-822(2000) [PubMed: 10639163] [Abstract] Cited for: INDUCTION, PROBABLE FUNCTION.
[11]	"Bacterial lipopolysaccharide induces expression of ABCA1 but not ABCG1 via an LXR-independent pathway." Kaplan R., Gan X., Menke J.G., Wright S.D., Cai T.-Q. J. Lipid Res. 43:952-959(2002) [PubMed: 12032171] [Abstract] Cited for: INDUCTION.
[12]	"Role of ABCG1 and other ABCG family members in lipid metabolism." Schmitz G., Langmann T., Heimerl S. J. Lipid Res. 42:1513-1520(2001) [PubMed: 11590207] [Abstract] Cited for: REVIEW.
[13]	"Expression of the ATP-binding cassette transporter gene ABCG1 (ABC8) in Tangier disease." Lorkowski S., Kratz M., Wenner C., Schmidt R., Weitkamp B., Fobker M., Reinhardt J., Rauterberg J., Galinski E.A., Cullen P. Biochem. Biophys. Res. Commun. 283:821-830(2001) [PubMed: 11350058] [Abstract] Cited for: TISSUE SPECIFICITY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	X91249 mRNA. Translation: CAA62631.1. Different initiation. AB038161 Genomic DNA. Translation: BAB13728.2. Different initiation. AJ289137 AJ289151 Genomic DNA. Translation: CAC00730.1. Different initiation. AF323658 AF323657 Genomic DNA. Translation: AAK28836.1. AF323664 mRNA. Translation: AAK28842.1. AF323658 AF323657 Genomic DNA. Translation: AAK28833.1. AF323660 mRNA. Translation: AAK28838.1. AF323663 mRNA. Translation: AAK28841.1. Different initiation. AF323658 AF323657 Genomic DNA. Translation: AAK28835.1. AF323662 mRNA. Translation: AAK28840.1. AF323658 AF323657 Genomic DNA. Translation: AAK28837.1. AF323658 AF323657 Genomic DNA. Translation: AAK28834.1. AF323661 mRNA. Translation: AAK28839.1. AY048757 mRNA. Translation: AAL06598.1. AP001746 Genomic DNA. Translation: BAA95530.1. Different initiation. BC029158 mRNA. Translation: AAH29158.2. U34919 mRNA. Translation: AAC51098.1. Different initiation.
IPI	IPI00024089. IPI00220758. IPI00220759. IPI00220760. IPI00220762. IPI00333761. IPI00335646. IPI00414196.
RefSeq	NP_004906.3. NM_004915.3. NP_058198.2. NM_016818.2. NP_997057.1. NM_207174.1. NP_997510.1. NM_207627.1. NP_997511.1. NM_207628.1. NP_997512.1. NM_207629.1.
UniGene	Hs.124649.
3D structure databases
ProteinModelPortal	P45844.
SMR	P45844. Positions 76-328.
ModBase	Search...
Protein-protein interaction databases
STRING	P45844.
Polymorphism databases
DMDM	17433715.
Proteomic databases
PRIDE	P45844.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000361802; ENSP00000354995; ENSG00000160179.
GeneID	9619.
KEGG	hsa:9619.
UCSC	uc002zam.1. human. uc002zao.1. human. uc002zaq.1. human. uc002zar.1. human.
Organism-specific databases
CTD	9619.
GeneCards	GC21P043619.
HGNC	HGNC:73. ABCG1.
HPA	HPA031470. HPA031471.
MIM	603076. gene.
neXtProt	NX_P45844.
PharmGKB	PA24408.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00600000084271.
HOVERGEN	HBG103052.
OMA	AAMTEPK.
PhylomeDB	P45844.
Enzyme and pathway databases
Reactome	REACT_15518. Transmembrane transport of small molecules. REACT_22258. Metabolism of lipids and lipoproteins.
Gene expression databases
ArrayExpress	P45844.
Bgee	P45844.
Genevestigator	P45844.
GermOnline	ENSG00000160179. 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. IPR005284. Pigment_permease. [Graphical view]
KO	K05679.
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]
TIGRFAMs	TIGR00955. 3a01204. 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
DrugBank	DB00171. Adenosine triphosphate.
NextBio	36087.
SOURCE	Search...

Entry information

Entry name

ABCG1_HUMAN

Accession

Primary (citable) accession number: P45844
Secondary accession number(s): Q86SU8

Q9BXL4

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1995
Last sequence update:	December 5, 2001
Last modified:	January 25, 2012
This is version 128 of the entry and version 3 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.

Relevant documents

Human chromosome 21

Human chromosome 21: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Preferred order of sections

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Alternative products

Sequence annotation (Features)

Molecule processing

Regions

Natural variations

Experimental info

Sequences

References

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

Polymorphism databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other

Entry information

Relevant documents