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ABCG1

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ABCG1
Identifikatori
AliasiABCG1
Vanjski ID-jeviOMIM: 603076 MGI: 107704 HomoloGene: 21022 GeneCards: ABCG1
Lokacija gena (čovjek)
Hromosom 21 (čovjek)
Hrom.Hromosom 21 (čovjek)[1]
Hromosom 21 (čovjek)
Genomska lokacija za ABCG1
Genomska lokacija za ABCG1
Bend21q22.3Početak42,199,689 bp[1]
Kraj42,297,244 bp[1]
Lokacija gena (miš)
Hromosom 17 (miš)
Hrom.Hromosom 17 (miš)[2]
Hromosom 17 (miš)
Genomska lokacija za ABCG1
Genomska lokacija za ABCG1
Bend17|17 A3.3Početak31,276,649 bp[2]
Kraj31,336,962 bp[2]
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
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)
NM_004915
NM_016818
NM_207174
NM_207627
NM_207628

NM_207629
NM_207630

NM_009593

RefSeq (bjelančevina)
NP_004906
NP_058198
NP_997057
NP_997510
NP_997511

NP_997512

NP_033723

Lokacija (UCSC)Chr 21: 42.2 – 42.3 MbChr 17: 31.28 – 31.34 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/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

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

1020304050
MACLMAAFSVGTAMNASSYSAEMTEPKSVCVSVDEVVSSNMEATETDLLN
GHLKKVDNNLTEAQRFSSLPRRAAVNIEFRDLSYSVPEGPWWRKKGYKTL
LKGISGKFNSGELVAIMGPSGAGKSTLMNILAGYRETGMKGAVLINGLPR
DLRCFRKVSCYIMQDDMLLPHLTVQEAMMVSAHLKLQEKDEGRREMVKEI
LTALGLLSCANTRTGSLSGGQRKRLAIALELVNNPPVMFFDEPTSGLDSA
SCFQVVSLMKGLAQGGRSIICTIHQPSAKLFELFDQLYVLSQGQCVYRGK
VCNLVPYLRDLGLNCPTYHNPADFVMEVASGEYGDQNSRLVRAVREGMCD
SDHKRDLGGDAEVNPFLWHRPSEEVKQTKRLKGLRKDSSSMEGCHSFSAS
CLTQFCILFKRTFLSIMRDSVLTHLRITSHIGIGLLIGLLYLGIGNEAKK
VLSNSGFLFFSMLFLMFAALMPTVLTFPLEMGVFLREHLNYWYSLKAYYL
AKTMADVPFQIMFPVAYCSIVYWMTSQPSDAVRFVLFAALGTMTSLVAQS
LGLLIGAASTSLQVATFVGPVTAIPVLLFSGFFVSFDTIPTYLQWMSYIS
YVRYGFEGVILSIYGLDREDLHCDIDETCHFQKSEAILRELDVENAKLYL
DFIVLGIFFISLRLIAYFVLRYKIRAER

Funkcija

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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

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Reference

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000160179 - Ensembl, maj 2017
  2. ^ a b c 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.
  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.
  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.
  7. ^ a b c "Entrez Gene: ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1".

Dopunska literatura

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Vanjski linkovi

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