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ABCB4 (англ. ATP binding cassette subfamily B member 4) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 7-ї хромосоми. Довжина поліпептидного ланцюга білка становить 1 286 амінокислот, а молекулярна маса — 141 523.
| ABCB4 | |||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ідентифікатори | |||||||||||||||||
| Символи | ABCB4, ABC21, GBD1, ICP3, MDR2, MDR2/3, MDR3, PFIC-3, PGY3, ATP binding cassette subfamily B member 4 | ||||||||||||||||
| Зовнішні ІД | OMIM: 171060 MGI: 97569 HomoloGene: 136368 GeneCards: ABCB4 | ||||||||||||||||
| 7.6.2.2 | |||||||||||||||||
| Пов'язані генетичні захворювання | |||||||||||||||||
| gallbladder disease, жовчнокам'яна хвороба | |||||||||||||||||
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| Шаблон експресії | |||||||||||||||||
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| Більше даних | |||||||||||||||||
| Ортологи | |||||||||||||||||
| Види | Людина | Миша | |||||||||||||||
| Entrez |
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| Ensembl |
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| UniProt |
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| RefSeq (мРНК) |
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| RefSeq (білок) |
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| Локус (UCSC) | Хр. 7: 87.4 – 87.48 Mb | Хр. 5: 8.94 – 9.01 Mb | |||||||||||||||
| PubMed search | |||||||||||||||||
| Вікідані | |||||||||||||||||
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| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MDLEAAKNGT | AWRPTSAEGD | FELGISSKQK | RKKTKTVKMI | GVLTLFRYSD | ||||
| WQDKLFMSLG | TIMAIAHGSG | LPLMMIVFGE | MTDKFVDTAG | NFSFPVNFSL | ||||
| SLLNPGKILE | EEMTRYAYYY | SGLGAGVLVA | AYIQVSFWTL | AAGRQIRKIR | ||||
| QKFFHAILRQ | EIGWFDINDT | TELNTRLTDD | ISKISEGIGD | KVGMFFQAVA | ||||
| TFFAGFIVGF | IRGWKLTLVI | MAISPILGLS | AAVWAKILSA | FSDKELAAYA | ||||
| KAGAVAEEAL | GAIRTVIAFG | GQNKELERYQ | KHLENAKEIG | IKKAISANIS | ||||
| MGIAFLLIYA | SYALAFWYGS | TLVISKEYTI | GNAMTVFFSI | LIGAFSVGQA | ||||
| APCIDAFANA | RGAAYVIFDI | IDNNPKIDSF | SERGHKPDSI | KGNLEFNDVH | ||||
| FSYPSRANVK | ILKGLNLKVQ | SGQTVALVGS | SGCGKSTTVQ | LIQRLYDPDE | ||||
| GTINIDGQDI | RNFNVNYLRE | IIGVVSQEPV | LFSTTIAENI | CYGRGNVTMD | ||||
| EIKKAVKEAN | AYEFIMKLPQ | KFDTLVGERG | AQLSGGQKQR | IAIARALVRN | ||||
| PKILLLDEAT | SALDTESEAE | VQAALDKARE | GRTTIVIAHR | LSTVRNADVI | ||||
| AGFEDGVIVE | QGSHSELMKK | EGVYFKLVNM | QTSGSQIQSE | EFELNDEKAA | ||||
| TRMAPNGWKS | RLFRHSTQKN | LKNSQMCQKS | LDVETDGLEA | NVPPVSFLKV | ||||
| LKLNKTEWPY | FVVGTVCAIA | NGGLQPAFSV | IFSEIIAIFG | PGDDAVKQQK | ||||
| CNIFSLIFLF | LGIISFFTFF | LQGFTFGKAG | EILTRRLRSM | AFKAMLRQDM | ||||
| SWFDDHKNST | GALSTRLATD | AAQVQGATGT | RLALIAQNIA | NLGTGIIISF | ||||
| IYGWQLTLLL | LAVVPIIAVS | GIVEMKLLAG | NAKRDKKELE | AAGKIATEAI | ||||
| ENIRTVVSLT | QERKFESMYV | EKLYGPYRNS | VQKAHIYGIT | FSISQAFMYF | ||||
| SYAGCFRFGA | YLIVNGHMRF | RDVILVFSAI | VFGAVALGHA | SSFAPDYAKA | ||||
| KLSAAHLFML | FERQPLIDSY | SEEGLKPDKF | EGNITFNEVV | FNYPTRANVP | ||||
| VLQGLSLEVK | KGQTLALVGS | SGCGKSTVVQ | LLERFYDPLA | GTVFVDFGFQ | ||||
| LLDGQEAKKL | NVQWLRAQLG | IVSQEPILFD | CSIAENIAYG | DNSRVVSQDE | ||||
| IVSAAKAANI | HPFIETLPHK | YETRVGDKGT | QLSGGQKQRI | AIARALIRQP | ||||
| QILLLDEATS | ALDTESEKVV | QEALDKAREG | RTCIVIAHRL | STIQNADLIV | ||||
| VFQNGRVKEH | GTHQQLLAQK | GIYFSMVSVQ | AGTQNL |
Кодований геном білок за функціями належить до гідролаз, фосфопротеїнів. Задіяний у таких біологічних процесах, як транспорт, транспорт ліпідів, альтернативний сплайсинг. Білок має сайт для зв'язування з АТФ, нуклеотидами. Локалізований у клітинній мембрані, цитоплазмі, мембрані, цитоплазматичних везикулах.
Література
- van der Bliek A.M., Kooiman P.M., Schneider C., Borst P. (1988). Sequence of mdr3 cDNA encoding a human P-glycoprotein. Gene. 71: 401—411. PMID 2906314 DOI:10.1016/0378-1119(88)90057-1
- Ghonem N.S., Ananthanarayanan M., Soroka C.J., Boyer J.L. (2014). Peroxisome proliferator-activated receptor alpha activates human multidrug resistance transporter 3/ATP-binding cassette protein subfamily B4 transcription and increases rat biliary phosphatidylcholine secretion. Hepatology. 59: 1030—1042. PMID 24122873 DOI:10.1002/hep.26894
- Rosmorduc O., Hermelin B., Poupon R. (2001). MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. Gastroenterology. 120: 1459—1467. PMID 11313316 DOI:10.1053/gast.2001.23947
- Lincke C.R., Smit J.J.M., van der Velde-Koerts T., Borst P. (1991). Structure of the human MDR3 gene and physical mapping of the human MDR locus. J. Biol. Chem. 266: 5303—5310. PMID 2002063
Примітки
- Захворювання, генетично пов'язані з ABCB4 переглянути/редагувати посилання на ВікіДаних.
- Human PubMed Reference:.
- Mouse PubMed Reference:.
- HUGO Gene Nomenclature Commitee, HGNC:45 (англ.) . Процитовано 7 вересня 2017.
- (англ.) . Архів оригіналу за 5 листопада 2017. Процитовано 7 вересня 2017.
Див. також
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ABCB4 angl ATP binding cassette subfamily B member 4 bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na korotkomu plechi 7 yi hromosomi Dovzhina polipeptidnogo lancyuga bilka stanovit 1 286 aminokislot a molekulyarna masa 141 523 ABCB4IdentifikatoriSimvoliABCB4 ABC21 GBD1 ICP3 MDR2 MDR2 3 MDR3 PFIC 3 PGY3 ATP binding cassette subfamily B member 4Zovnishni ID OMIM 171060 MGI 97569 HomoloGene 136368 GeneCards ABCB47 6 2 2Pov yazani genetichni zahvoryuvannyagallbladder disease zhovchnokam yana hvorobaOntologiya genaMolekulyarna funkciya ATPase coupled transmembrane transporter activity nucleotide binding ABC type xenobiotic transporter activity phosphatidylcholine transporter activity phosphatidylcholine floppase activity ATPase activity GO 0001948 GO 0016582 protein binding hydrolase activity ATP binding phospholipid transporter activity ceramide floppase activityKlitinna komponenta citoplazma integral component of membrane membrana klitinna membrana integral component of plasma membrane intercellular canaliculus apical plasma membrane membrane raft ekzosoma GO 0016023 cytoplasmic vesicle clathrin coated vesicle nukleoplazma gialoplazma focal adhesion actin cytoskeleton brush border membrane apical part of cellBiologichnij proces lipid transport cellular response to bile acid positive regulation of cholesterol transport positive regulation of phospholipid translocation xenobiotic transmembrane transport lipid metabolism positive regulation of phospholipid transport response to fenofibrate xenobiotic transport transmembrannij transport lipid homeostasis bile acid secretion phospholipid translocation response to hypoxia placenta development brain development laktaciya cirkadnij ritm hormone transport response to organic substance response to mycotoxin GO 1904578 response to organic cyclic compound response to isoquinoline alkaloid response to nutrient levels response to estradiol response to vitamin A carbohydrate export response to vitamin D maintenance of blood brain barrier cellular response to mycotoxin daunorubicin transport response to morphine xenobiotic export response to cadmium ion intestinal absorption negative regulation of cell death establishment of blood brain barrier cellular response to external biotic stimulus GO 1904577 cellular response to antibiotic cellular response to alkaloid cellular response to estradiol stimulus GO 1904579 cellular response to organic cyclic compound cellular hyperosmotic salinity response response to dexamethasone cellular response to dexamethasone stimulus response to thyroxine response to antineoplastic agent ceramide translocation response to L glutamate response to glycoside cellular response to borneol cellular response to L glutamate response to codeine response to quercetin response to cyclosporin A xenobiotic transport across blood brain barrier establishment of blood retinal barrier positive regulation of response to drug regulation of lipid metabolic process regulation of intestinal absorption GO 0015915 transportDzherela Amigo QuickGOShablon ekspresiyiBilshe danihOrtologiVidi Lyudina MishaEntrez5244 18670Ensembl ENSG00000005471 ENSMUSG00000042476UniProt P21439 P21440RefSeq mRNK NM 000443 NM 018849 NM 018850NM 008830RefSeq bilok NP 000434 NP 061337 NP 061338NP 032856Lokus UCSC Hr 7 87 4 87 48 MbHr 5 8 94 9 01 MbPubMed searchVikidaniDiv Red dlya lyudejDiv Red dlya mishejPoslidovnist aminokislot1020304050MDLEAAKNGTAWRPTSAEGDFELGISSKQKRKKTKTVKMIGVLTLFRYSDWQDKLFMSLGTIMAIAHGSGLPLMMIVFGEMTDKFVDTAGNFSFPVNFSLSLLNPGKILEEEMTRYAYYYSGLGAGVLVAAYIQVSFWTLAAGRQIRKIRQKFFHAILRQEIGWFDINDTTELNTRLTDDISKISEGIGDKVGMFFQAVATFFAGFIVGFIRGWKLTLVIMAISPILGLSAAVWAKILSAFSDKELAAYAKAGAVAEEALGAIRTVIAFGGQNKELERYQKHLENAKEIGIKKAISANISMGIAFLLIYASYALAFWYGSTLVISKEYTIGNAMTVFFSILIGAFSVGQAAPCIDAFANARGAAYVIFDIIDNNPKIDSFSERGHKPDSIKGNLEFNDVHFSYPSRANVKILKGLNLKVQSGQTVALVGSSGCGKSTTVQLIQRLYDPDEGTINIDGQDIRNFNVNYLREIIGVVSQEPVLFSTTIAENICYGRGNVTMDEIKKAVKEANAYEFIMKLPQKFDTLVGERGAQLSGGQKQRIAIARALVRNPKILLLDEATSALDTESEAEVQAALDKAREGRTTIVIAHRLSTVRNADVIAGFEDGVIVEQGSHSELMKKEGVYFKLVNMQTSGSQIQSEEFELNDEKAATRMAPNGWKSRLFRHSTQKNLKNSQMCQKSLDVETDGLEANVPPVSFLKVLKLNKTEWPYFVVGTVCAIANGGLQPAFSVIFSEIIAIFGPGDDAVKQQKCNIFSLIFLFLGIISFFTFFLQGFTFGKAGEILTRRLRSMAFKAMLRQDMSWFDDHKNSTGALSTRLATDAAQVQGATGTRLALIAQNIANLGTGIIISFIYGWQLTLLLLAVVPIIAVSGIVEMKLLAGNAKRDKKELEAAGKIATEAIENIRTVVSLTQERKFESMYVEKLYGPYRNSVQKAHIYGITFSISQAFMYFSYAGCFRFGAYLIVNGHMRFRDVILVFSAIVFGAVALGHASSFAPDYAKAKLSAAHLFMLFERQPLIDSYSEEGLKPDKFEGNITFNEVVFNYPTRANVPVLQGLSLEVKKGQTLALVGSSGCGKSTVVQLLERFYDPLAGTVFVDFGFQLLDGQEAKKLNVQWLRAQLGIVSQEPILFDCSIAENIAYGDNSRVVSQDEIVSAAKAANIHPFIETLPHKYETRVGDKGTQLSGGQKQRIAIARALIRQPQILLLDEATSALDTESEKVVQEALDKAREGRTCIVIAHRLSTIQNADLIVVFQNGRVKEHGTHQQLLAQKGIYFSMVSVQAGTQNLA Alanin C Cisteyin D Asparaginova kislota E Glutaminova kislota F Fenilalanin G Glicin H Gistidin I Izolejcin K Lizin L Lejcin M Metionin N Asparagin P Prolin Q Glutamin R Arginin S Serin T Treonin V Valin W Triptofan Y Tirozin Kodovanij genom bilok za funkciyami nalezhit do gidrolaz fosfoproteyiniv Zadiyanij u takih biologichnih procesah yak transport transport lipidiv alternativnij splajsing Bilok maye sajt dlya zv yazuvannya z ATF nukleotidami Lokalizovanij u klitinnij membrani citoplazmi membrani citoplazmatichnih vezikulah Literaturavan der Bliek A M Kooiman P M Schneider C Borst P 1988 Sequence of mdr3 cDNA encoding a human P glycoprotein Gene 71 401 411 PMID 2906314 DOI 10 1016 0378 1119 88 90057 1 Ghonem N S Ananthanarayanan M Soroka C J Boyer J L 2014 Peroxisome proliferator activated receptor alpha activates human multidrug resistance transporter 3 ATP binding cassette protein subfamily B4 transcription and increases rat biliary phosphatidylcholine secretion Hepatology 59 1030 1042 PMID 24122873 DOI 10 1002 hep 26894 Rosmorduc O Hermelin B Poupon R 2001 MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis Gastroenterology 120 1459 1467 PMID 11313316 DOI 10 1053 gast 2001 23947 Lincke C R Smit J J M van der Velde Koerts T Borst P 1991 Structure of the human MDR3 gene and physical mapping of the human MDR locus J Biol Chem 266 5303 5310 PMID 2002063PrimitkiZahvoryuvannya genetichno pov yazani z ABCB4 pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference HUGO Gene Nomenclature Commitee HGNC 45 angl Procitovano 7 veresnya 2017 angl Arhiv originalu za 5 listopada 2017 Procitovano 7 veresnya 2017 Div takozhHromosoma 7Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi