ABCG1

ABCG1
Identifikatori
Aliasi	ABCG1
Vanjski ID-jevi	OMIM: 603076 MGI: 107704 HomoloGene: 21022 GeneCards: ABCG1
Lokacija gena (čovjek)
Hrom.	Hromosom 21 (čovjek)
Kraj	42,297,244 bp
Lokacija gena (miš)
Hrom.	Hromosom 17 (miš)
Kraj	31,336,962 bp
Obrazac RNK ekspresije
	; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• nucleotide binding; • protein dimerization activity; • protein homodimerization activity; • ADP binding; • phospholipid transporter activity; • ABC-type sterol transporter activity; • cholesterol binding; • ATPase activity; • toxin transmembrane transporter activity; • GO:0001948, GO:0016582 vezivanje za proteine; • protein heterodimerization activity; • phospholipid binding; • ATP binding; • GO:0017127 cholesterol transfer activity; • ATPase-coupled transmembrane transporter activity;
Ćelijska komponenta	• integral component of membrane; • reciklirajući endosom; • endozom; • Golđijev aparat; • endoplasmic reticulum membrane; • membrana; • Golđijeva membrana; • ćelijska membrana; • integral component of plasma membrane; • Endoplazmatski retikulum; • mitohondrija; • external side of plasma membrane;
Biološki proces	• phospholipid homeostasis; • lipid transport; • GO:0009373 regulation of transcription, DNA-templated; • detection of hormone stimulus; • phospholipid efflux; • glycoprotein transport; • cholesterol transport; • cholesterol metabolic process; • response to organic substance; • negative regulation of cholesterol storage; • response to lipid; • intracellular cholesterol transport; • low-density lipoprotein particle remodeling; • positive regulation of cholesterol efflux; • transmembrane transport; • cholesterol efflux; • positive regulation of cholesterol biosynthetic process; • negative regulation of lipid storage; • cholesterol homeostasis; • regulation of cholesterol esterification; • negative regulation of macrophage derived foam cell differentiation; • amyloid precursor protein catabolic process; • reverse cholesterol transport; • toxin transport; • high-density lipoprotein particle remodeling; • GO:0015915 transport; • cellular response to high density lipoprotein particle stimulus; • positive regulation of protein secretion; • positive regulation of amyloid-beta formation;
	Izvori:Amigo / QuickGO
Ortolozi
	9619
	11307
	ENSG00000160179
	ENSMUSG00000024030
	P45844
	Q64343
NM_004915; NM_016818; NM_207174; NM_207627; NM_207628;
	NM_207629; NM_207630
	NM_009593
NP_004906; NP_058198; NP_997057; NP_997510; NP_997511;
	NP_997512
	NP_033723
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Član 1 ATP-vezujuće kasetne potporodice G jest protein koji je kod ljudi kodiran genom ABCG1 sa hromosoma 21.^[5]^[6]^[7].

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 678 aminokiselina, a molekulska težina 75.592 Da.^[7]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

10	20	30	40	50
MACLMAAFSV	GTAMNASSYS	AEMTEPKSVC	VSVDEVVSSN	MEATETDLLN
GHLKKVDNNL	TEAQRFSSLP	RRAAVNIEFR	DLSYSVPEGP	WWRKKGYKTL
LKGISGKFNS	GELVAIMGPS	GAGKSTLMNI	LAGYRETGMK	GAVLINGLPR
DLRCFRKVSC	YIMQDDMLLP	HLTVQEAMMV	SAHLKLQEKD	EGRREMVKEI
LTALGLLSCA	NTRTGSLSGG	QRKRLAIALE	LVNNPPVMFF	DEPTSGLDSA
SCFQVVSLMK	GLAQGGRSII	CTIHQPSAKL	FELFDQLYVL	SQGQCVYRGK
VCNLVPYLRD	LGLNCPTYHN	PADFVMEVAS	GEYGDQNSRL	VRAVREGMCD
SDHKRDLGGD	AEVNPFLWHR	PSEEVKQTKR	LKGLRKDSSS	MEGCHSFSAS
CLTQFCILFK	RTFLSIMRDS	VLTHLRITSH	IGIGLLIGLL	YLGIGNEAKK
VLSNSGFLFF	SMLFLMFAAL	MPTVLTFPLE	MGVFLREHLN	YWYSLKAYYL
AKTMADVPFQ	IMFPVAYCSI	VYWMTSQPSD	AVRFVLFAAL	GTMTSLVAQS
LGLLIGAAST	SLQVATFVGP	VTAIPVLLFS	GFFVSFDTIP	TYLQWMSYIS
YVRYGFEGVI	LSIYGLDRED	LHCDIDETCH	FQKSEAILRE	LDVENAKLYL
DFIVLGIFFI	SLRLIAYFVL	RYKIRAER

Funkcija

Protein koji je kodiran ovim genom član je natporodice ATP-vezujućih kasetnih transportera (ABC). ABC proteini prenose različite molekule kroz izvan- i unutarćelijske membrane. ABC geni su podijeljeni u sedam različitih potporodica (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). Ovaj protein je član potporodice White (imenovan po bijelim očima u rodu Drosophila). Učestvuje u transportu makrofaga, holesterola i fosfolipida i može regulisati ćelijsku homeostazu lipida u drugim tipovima ćelija. Identificirano je nekoliko alternativnih varijanti prerade.^[7]

Također pogledajte

ATP-vezujući kasetni transporter

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000160179 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000024030 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Chen H, Rossier C, Lalioti MD, Lynn A, Chakravarti A, Perrin G, Antonarakis SE (Jul 1996). "Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3". American Journal of Human Genetics. 59 (1): 66–75. PMC 1915121. PMID 8659545.
^ Engel T, Bode G, Lueken A, Knop M, Kannenberg F, Nofer JR, Assmann G, Seedorf U (Aug 2006). "Expression and functional characterization of ABCG1 splice variant ABCG1(666)". FEBS Letters. 580 (18): 4551–9. doi:10.1016/j.febslet.2006.07.006. PMID 16870176. S2CID 22947257.
^ ^a ^b ^c "Entrez Gene: ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1".

Dopunska literatura

Schmitz G, Langmann T, Heimerl S (Oct 2001). "Role of ABCG1 and other ABCG family members in lipid metabolism". Journal of Lipid Research. 42 (10): 1513–20. doi:10.1016/S0022-2275(20)32205-7. PMID 11590207.
Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (Apr 1996). "A "double adaptor" method for improved shotgun library construction". Analytical Biochemistry. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
Savary S, Denizot F, Luciani M, Mattei M, Chimini G (Sep 1996). "Molecular cloning of a mammalian ABC transporter homologous to Drosophila white gene". Mammalian Genome. 7 (9): 673–6. doi:10.1007/s003359900203. PMID 8703120. S2CID 1077887.
Croop JM, Tiller GE, Fletcher JA, Lux ML, Raab E, Goldenson D, Son D, Arciniegas S, Wu RL (Jan 1997). "Isolation and characterization of a mammalian homolog of the Drosophila white gene". Gene. 185 (1): 77–85. doi:10.1016/S0378-1119(96)00633-6. PMID 9034316.
Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA (Apr 1997). "Large-scale concatenation cDNA sequencing". Genome Research. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
Klucken J, Büchler C, Orsó E, Kaminski WE, Porsch-Ozcürümez M, Liebisch G, Kapinsky M, Diederich W, Drobnik W, Dean M, Allikmets R, Schmitz G (Jan 2000). "ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport". Proceedings of the National Academy of Sciences of the United States of America. 97 (2): 817–22. Bibcode:2000PNAS...97..817K. doi:10.1073/pnas.97.2.817. PMC 15414. PMID 10639163.
Venkateswaran A, Repa JJ, Lobaccaro JM, Bronson A, Mangelsdorf DJ, Edwards PA (May 2000). "Human white/murine ABC8 mRNA levels are highly induced in lipid-loaded macrophages. A transcriptional role for specific oxysterols". The Journal of Biological Chemistry. 275 (19): 14700–7. doi:10.1074/jbc.275.19.14700. PMID 10799558.
Berry A, Scott HS, 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, Bonné-Tamir B (Aug 2000). "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". Genomics. 68 (1): 22–9. doi:10.1006/geno.2000.6253. PMID 10950923.
Langmann T, Porsch-Ozcürümez M, Unkelbach U, Klucken J, Schmitz G (Nov 2000). "Genomic organization and characterization of the promoter of the human ATP-binding cassette transporter-G1 (ABCG1) gene". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1494 (1–2): 175–80. doi:10.1016/s0167-4781(00)00215-3. PMID 11072082.
Lorkowski S, Rust S, Engel T, Jung E, Tegelkamp K, Galinski EA, Assmann G, Cullen P (Jan 2001). "Genomic sequence and structure of the human ABCG1 (ABC8) gene". Biochemical and Biophysical Research Communications. 280 (1): 121–31. doi:10.1006/bbrc.2000.4089. PMID 11162488.
Porsch-Ozcurumez M, Langmann T, Heimerl S, Borsukova H, Kaminski WE, Drobnik W, Honer C, Schumacher C, Schmitz G (Apr 2001). "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". The Journal of Biological Chemistry. 276 (15): 12427–33. doi:10.1074/jbc.M100218200. PMID 11279031.
Lorkowski S, Kratz M, Wenner C, Schmidt R, Weitkamp B, Fobker M, Reinhardt J, Rauterberg J, Galinski EA, Cullen P (May 2001). "Expression of the ATP-binding cassette transporter gene ABCG1 (ABC8) in Tangier disease". Biochemical and Biophysical Research Communications. 283 (4): 821–30. doi:10.1006/bbrc.2001.4863. PMID 11350058.
Kennedy MA, Venkateswaran A, Tarr PT, Xenarios I, Kudoh J, Shimizu N, Edwards PA (Oct 2001). "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". The Journal of Biological Chemistry. 276 (42): 39438–47. doi:10.1074/jbc.M105863200. PMID 11500512.
Kaplan R, Gan X, Menke JG, Wright SD, Cai TQ (Jun 2002). "Bacterial lipopolysaccharide induces expression of ABCA1 but not ABCG1 via an LXR-independent pathway". Journal of Lipid Research. 43 (6): 952–9. doi:10.1016/S0022-2275(20)30470-3. PMID 12032171.
Cserepes J, Szentpétery Z, Seres L, Ozvegy-Laczka C, Langmann T, Schmitz G, Glavinas H, Klein I, Homolya L, Váradi A, Sarkadi B, Elkind NB (Jul 2004). "Functional expression and characterization of the human ABCG1 and ABCG4 proteins: indications for heterodimerization". Biochemical and Biophysical Research Communications. 320 (3): 860–7. doi:10.1016/j.bbrc.2004.06.037. PMID 15240127.

Vanjski linkovi

ABCG1 protein, human na US National Library of Medicine Medical Subject Headings (MeSH)
Lokacija ljudskog genoma ABCG1 i stranica sa detaljima o genu ABCG1 u UCSC Genome Browseru.

Ovaj članak uključuje tekst iz Nacionalne medicinske biblioteke Sjedinjenih Država, koji je u javnom vlasništvu.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000160179 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000024030 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8659545-5] Chen H, Rossier C, Lalioti MD, Lynn A, Chakravarti A, Perrin G, Antonarakis SE (Jul 1996). "Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3". American Journal of Human Genetics. 59 (1): 66–75. PMC 1915121. PMID 8659545.

[pmid16870176-6] Engel T, Bode G, Lueken A, Knop M, Kannenberg F, Nofer JR, Assmann G, Seedorf U (Aug 2006). "Expression and functional characterization of ABCG1 splice variant ABCG1(666)". FEBS Letters. 580 (18): 4551–9. doi:10.1016/j.febslet.2006.07.006. PMID 16870176. S2CID 22947257.

[entrez-7] "Entrez Gene: ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1".

[1]

p r u Membranski proteini, nosački proteni: membranski transportni proteini ABC-transporter (TC 3A1)
A	A1 A2 A3 A4 A7 A8 A12 A13
B	B1 B2-3 (B2 B3) B4 B5 B6 B7 B9 B11
C	C1 C2 C3 C4 C5 C6 C7 C8-9 (C8, C9) C10 C11 C13
D	D1 D2 D3 D4
E	E1
F	F1 F2
G	G1 G2 G4 Sterolin (G5, G8)
Također pogledajte Poremećaji ABC transportera