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NIPBL англ NIPBL cohesin loading factor білок який кодується однойменним геном розташованим у людей на короткому плечі 5

NIPBL

NIPBL

NIPBL (англ. NIPBL, cohesin loading factor) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 5-ї хромосоми. Довжина поліпептидного ланцюга білка становить 2 804 амінокислот, а молекулярна маса — 316 051.

NIPBL
image
Ідентифікатори
Символи NIPBL, CDLS, CDLS1, IDN3, IDN3-B, Scc2, cohesin loading factor, NIPBL cohesin loading factor
Зовнішні ІД OMIM: 608667 MGI: 1913976 HomoloGene: 15850 GeneCards: NIPBL
Пов'язані генетичні захворювання
ожиріння, Cornelia de Lange syndrome
Ортологи
Види Людина Миша
Entrez
25836
71175
Ensembl
ENSG00000164190
ENSMUSG00000022141
UniProt
Q6KC79
Q6KCD5
RefSeq (мРНК)
NM_015384
NM_133433
NM_027707
NM_201232
RefSeq (білок)
NP_056199
NP_597677
NP_081983
NP_957684
Локус (UCSC) Хр. 5: 36.88 – 37.07 Mb Хр. 15: 8.32 – 8.47 Mb
PubMed search
Вікідані
Див./Ред. для людейДив./Ред. для мишей
Послідовність амінокислот
1020304050
MNGDMPHVPITTLAGIASLTDLLNQLPLPSPLPATTTKSLLFNARIAEEV
NCLLACRDDNLVSQLVHSLNQVSTDHIELKDNLGSDDPEGDIPVLLQAVL
ARSPNVFREKSMQNRYVQSGMMMSQYKLSQNSMHSSPASSNYQQTTISHS
PSSRFVPPQTSSGNRFMPQQNSPVPSPYAPQSPAGYMPYSHPSSYTTHPQ
MQQASVSSPIVAGGLRNIHDNKVSGPLSGNSANHHADNPRHGSSEDYLHM
VHRLSSDDGDSSTMRNAASFPLRSPQPVCSPAGSEGTPKGSRPPLILQSQ
SLPCSSPRDVPPDILLDSPERKQKKQKKMKLGKDEKEQSEKAAMYDIISS
PSKDSTKLTLRLSRVRSSDMDQQEDMISGVENSNVSENDIPFNVQYPGQT
SKTPITPQDINRPLNAAQCLSQQEQTAFLPANQVPVLQQNTSVAAKQPQT
SVVQNQQQISQQGPIYDEVELDALAEIERIERESAIERERFSKEVQDKDK
PLKKRKQDSYPQEAGGATGGNRPASQETGSTGNGSRPALMVSIDLHQAGR
VDSQASITQDSDSIKKPEEIKQCNDAPVSVLQEDIVGSLKSTPENHPETP
KKKSDPELSKSEMKQSESRLAESKPNENRLVETKSSENKLETKVETQTEE
LKQNESRTTECKQNESTIVEPKQNENRLSDTKPNDNKQNNGRSETTKSRP
ETPKQKGESRPETPKQKSDGHPETPKQKGDGRPETPKQKGESRPETPKQK
NEGRPETPKHRHDNRRDSGKPSTEKKPEVSKHKQDTKSDSPRLKSERAEA
LKQRPDGRSVSESLRRDHDNKQKSDDRGESERHRGDQSRVRRPETLRSSS
RNEHGIKSDSSKTDKLERKHRHESGDSRERPSSGEQKSRPDSPRVKQGDS
NKSRSDKLGFKSPTSKDDKRTEGNKSKVDTNKAHPDNKAEFPSYLLGGRS
GALKNFVIPKIKRDKDGNVTQETKKMEMKGEPKDKVEKIGLVEDLNKGAK
PVVVLQKLSLDDVQKLIKDREDKSRSSLKPIKNKPSKSNKGSIDQSVLKE
LPPELLAEIESTMPLCERVKMNKRKRSTVNEKPKYAEISSDEDNDSDEAF
ESSRKRHKKDDDKAWEYEERDRRSSGDHRRSGHSHEGRRSSGGGRYRNRS
PSDSDMEDYSPPPSLSEVARKMKKKEKQKKRKAYEPKLTPEEMMDSSTFK
RFTASIENILDNLEDMDFTAFGDDDEIPQELLLGKHQLNELGSESAKIKA
MGIMDKLSTDKTVKVLNILEKNIQDGSKLSTLLNHNNDTEEEERLWRDLI
MERVTKSADACLTTINIMTSPNMPKAVYIEDVIERVIQYTKFHLQNTLYP
QYDPVYRLDPHGGGLLSSKAKRAKCSTHKQRVIVMLYNKVCDIVSSLSEL
LEIQLLTDTTILQVSSMGITPFFVENVSELQLCAIKLVTAVFSRYEKHRQ
LILEEIFTSLARLPTSKRSLRNFRLNSSDMDGEPMYIQMVTALVLQLIQC
VVHLPSSEKDSNAEEDSNKKIDQDVVITNSYETAMRTAQNFLSIFLKKCG
SKQGEEDYRPLFENFVQDLLSTVNKPEWPAAELLLSLLGRLLVHQFSNKS
TEMALRVASLDYLGTVAARLRKDAVTSKMDQGSIERILKQVSGGEDEIQQ
LQKALLDYLDENTETDPSLVFSRKFYIAQWFRDTTLETEKAMKSQKDEES
SEGTHHAKEIETTGQIMHRAENRKKFLRSIIKTTPSQFSTLKMNSDTVDY
DDACLIVRYLASMRPFAQSFDIYLTQILRVLGENAIAVRTKAMKCLSEVV
AVDPSILARLDMQRGVHGRLMDNSTSVREAAVELLGRFVLCRPQLAEQYY
DMLIERILDTGISVRKRVIKILRDICIEQPTFPKITEMCVKMIRRVNDEE
GIKKLVNETFQKLWFTPTPHNDKEAMTRKILNITDVVAACRDTGYDWFEQ
LLQNLLKSEEDSSYKPVKKACTQLVDNLVEHILKYEESLADSDNKGVNSG
RLVACITTLFLFSKIRPQLMVKHAMTMQPYLTTKCSTQNDFMVICNVAKI
LELVVPLMEHPSETFLATIEEDLMKLIIKYGMTVVQHCVSCLGAVVNKVT
QNFKFVWACFNRYYGAISKLKSQHQEDPNNTSLLTNKPALLRSLFTVGAL
CRHFDFDLEDFKGNSKVNIKDKVLELLMYFTKHSDEEVQTKAIIGLGFAF
IQHPSLMFEQEVKNLYNNILSDKNSSVNLKIQVLKNLQTYLQEEDTRMQQ
ADRDWKKVAKQEDLKEMGDVSSGMSSSIMQLYLKQVLEAFFHTQSSVRHF
ALNVIALTLNQGLIHPVQCVPYLIAMGTDPEPAMRNKADQQLVEIDKKYA
GFIHMKAVAGMKMSYQVQQAINTCLKDPVRGFRQDESSSALCSHLYSMIR
GNRQHRRAFLISLLNLFDDTAKTDVTMLLYIADNLACFPYQTQEEPLFIM
HHIDITLSVSGSNLLQSFKESMVKDKRKERKSSPSKENESSDSEEEVSRP
RKSRKRVDSDSDSDSEDDINSVMKCLPENSAPLIEFANVSQGILLLLMLK
QHLKNLCGFSDSKIQKYSPSESAKVYDKAINRKTGVHFHPKQTLDFLRSD
MANSKITEEVKRSIVKQYLDFKLLMEHLDPDEEEEEGEVSASTNARNKAI
TSLLGGGSPKNNTAAETEDDESDGEDRGGGTSGSLRRSKRNSDSTELAAQ
MNESVDVMDVIAICCPKYKDRPQIARVVQKTSSGFSVQWMAGSYSGSWTE
AKRRDGRKLVPWVDTIKESDIIYKKIALTSANKLTNKVVQTLRSLYAAKD
GTSS

Кодований геном білок за функцією належить до фосфопротеїнів. Задіяний у таких біологічних процесах як клітинний цикл, поліморфізм, ацетилювання, альтернативний сплайсинг. Локалізований у ядрі.

Література

  • Tonkin E.T., Wang T.-J., Lisgo S., Bamshad M.J., Strachan T. (2004). NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat. Genet. 36: 636—641. PMID 15146185 DOI:10.1038/ng1363
  • The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 14: 2121—2127. 2004. PMID 15489334 DOI:10.1101/gr.2596504
  • Lechner M.S., Schultz D.C., Negorev D., Maul G.G., Rauscher F.J. III (2005). The mammalian heterochromatin protein 1 binds diverse nuclear proteins through a common motif that targets the chromoshadow domain. Biochem. Biophys. Res. Commun. 331: 929—937. PMID 15882967 DOI:10.1016/j.bbrc.2005.04.016
  • Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P. (2006). A probability-based approach for high-throughput protein phosphorylation analysis and site localization. Nat. Biotechnol. 24: 1285—1292. PMID 16964243 DOI:10.1038/nbt1240
  • Mei L., Liang D., Huang Y., Pan Q., Wu L. (2015). Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome. Gene. 555: 476—480. PMID 25447906 DOI:10.1016/j.gene.2014.11.033
  • Park H.D., Ki C.S., Kim J.W., Kim W.T., Kim J.K. (2010). Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations. Ann. Clin. Lab. Sci. 40: 20—25. PMID 20124326

Примітки

  1. Захворювання, генетично пов'язані з NIPBL переглянути/редагувати посилання на ВікіДаних.
  2. Human PubMed Reference:.
  3. Mouse PubMed Reference:.
  4. HUGO Gene Nomenclature Commitee, HGNC:28862 (англ.) . Процитовано 31 серпня 2017.
  5. (англ.) . Архів оригіналу за 29 серпня 2017. Процитовано 31 серпня 2017.

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NIPBL angl NIPBL cohesin loading factor bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na korotkomu plechi 5 yi hromosomi Dovzhina polipeptidnogo lancyuga bilka stanovit 2 804 aminokislot a molekulyarna masa 316 051 NIPBLIdentifikatoriSimvoliNIPBL CDLS CDLS1 IDN3 IDN3 B Scc2 cohesin loading factor NIPBL cohesin loading factorZovnishni ID OMIM 608667 MGI 1913976 HomoloGene 15850 GeneCards NIPBLPov yazani genetichni zahvoryuvannyaozhirinnya Cornelia de Lange syndrome Ontologiya genaMolekulyarna funkciya mediator complex binding chromo shadow domain binding protein N terminus binding histone deacetylase binding chromatin binding protein C terminus binding GO 0001948 GO 0016582 protein bindingKlitinna komponenta SMC loading complex nukleoplazma Hromatin ekzosoma klitinne yadro integrator complex nuclear chromosome hromosoma Scc2 Scc4 cohesin loading complexBiologichnij proces positive regulation of histone deacetylation forelimb morphogenesis eye morphogenesis regulation of embryonic development kognitivnist uterus morphogenesis cellular response to X ray regulation of developmental growth heart morphogenesis outflow tract morphogenesis positive regulation of ossification GO 1901227 negative regulation of transcription by RNA polymerase II sluh cellular response to DNA damage stimulus stem cell population maintenance ear morphogenesis heart development brain development developmental growth external genitalia morphogenesis regulation of hair cycle positive regulation of multicellular organism growth embryonic digestive tract morphogenesis gall bladder development regulyaciya ekspresiyi geniv embryonic cranial skeleton morphogenesis embryonic viscerocranium morphogenesis klitinnij cikl metanephros development GO 0045996 negative regulation of transcription DNA templated fat cell differentiation maintenance of mitotic sister chromatid cohesion embryonic forelimb morphogenesis face morphogenesis GO 0003257 GO 0010735 GO 1901228 GO 1900622 GO 1904488 positive regulation of transcription by RNA polymerase II GO 0044324 GO 0003256 GO 1901213 GO 0046019 GO 0046020 GO 1900094 GO 0061216 GO 0060994 GO 1902064 GO 0003258 GO 0072212 regulation of transcription by RNA polymerase II positive regulation of neuron migration transcription DNA templated GO 0009373 regulation of transcription DNA templated multicellular organism development mitotic sister chromatid cohesion double strand break repair mitotic chromosome condensation establishment of mitotic sister chromatid cohesion rDNA condensation establishment of protein localization to chromatin cohesin loading positive regulation of mitotic cohesin loading Sestrinski hromatidni obminiDzherela Amigo QuickGOOrtologiVidi Lyudina MishaEntrez25836 71175Ensembl ENSG00000164190 ENSMUSG00000022141UniProt Q6KC79 Q6KCD5RefSeq mRNK NM 015384 NM 133433NM 027707 NM 201232RefSeq bilok NP 056199 NP 597677NP 081983 NP 957684Lokus UCSC Hr 5 36 88 37 07 MbHr 15 8 32 8 47 MbPubMed searchVikidaniDiv Red dlya lyudejDiv Red dlya mishej Poslidovnist aminokislot1020304050 MNGDMPHVPITTLAGIASLTDLLNQLPLPSPLPATTTKSLLFNARIAEEV NCLLACRDDNLVSQLVHSLNQVSTDHIELKDNLGSDDPEGDIPVLLQAVL ARSPNVFREKSMQNRYVQSGMMMSQYKLSQNSMHSSPASSNYQQTTISHS PSSRFVPPQTSSGNRFMPQQNSPVPSPYAPQSPAGYMPYSHPSSYTTHPQ MQQASVSSPIVAGGLRNIHDNKVSGPLSGNSANHHADNPRHGSSEDYLHM VHRLSSDDGDSSTMRNAASFPLRSPQPVCSPAGSEGTPKGSRPPLILQSQ SLPCSSPRDVPPDILLDSPERKQKKQKKMKLGKDEKEQSEKAAMYDIISS PSKDSTKLTLRLSRVRSSDMDQQEDMISGVENSNVSENDIPFNVQYPGQT SKTPITPQDINRPLNAAQCLSQQEQTAFLPANQVPVLQQNTSVAAKQPQT SVVQNQQQISQQGPIYDEVELDALAEIERIERESAIERERFSKEVQDKDK PLKKRKQDSYPQEAGGATGGNRPASQETGSTGNGSRPALMVSIDLHQAGR VDSQASITQDSDSIKKPEEIKQCNDAPVSVLQEDIVGSLKSTPENHPETP KKKSDPELSKSEMKQSESRLAESKPNENRLVETKSSENKLETKVETQTEE LKQNESRTTECKQNESTIVEPKQNENRLSDTKPNDNKQNNGRSETTKSRP ETPKQKGESRPETPKQKSDGHPETPKQKGDGRPETPKQKGESRPETPKQK NEGRPETPKHRHDNRRDSGKPSTEKKPEVSKHKQDTKSDSPRLKSERAEA LKQRPDGRSVSESLRRDHDNKQKSDDRGESERHRGDQSRVRRPETLRSSS RNEHGIKSDSSKTDKLERKHRHESGDSRERPSSGEQKSRPDSPRVKQGDS NKSRSDKLGFKSPTSKDDKRTEGNKSKVDTNKAHPDNKAEFPSYLLGGRS GALKNFVIPKIKRDKDGNVTQETKKMEMKGEPKDKVEKIGLVEDLNKGAK PVVVLQKLSLDDVQKLIKDREDKSRSSLKPIKNKPSKSNKGSIDQSVLKE LPPELLAEIESTMPLCERVKMNKRKRSTVNEKPKYAEISSDEDNDSDEAF ESSRKRHKKDDDKAWEYEERDRRSSGDHRRSGHSHEGRRSSGGGRYRNRS PSDSDMEDYSPPPSLSEVARKMKKKEKQKKRKAYEPKLTPEEMMDSSTFK RFTASIENILDNLEDMDFTAFGDDDEIPQELLLGKHQLNELGSESAKIKA MGIMDKLSTDKTVKVLNILEKNIQDGSKLSTLLNHNNDTEEEERLWRDLI MERVTKSADACLTTINIMTSPNMPKAVYIEDVIERVIQYTKFHLQNTLYP QYDPVYRLDPHGGGLLSSKAKRAKCSTHKQRVIVMLYNKVCDIVSSLSEL LEIQLLTDTTILQVSSMGITPFFVENVSELQLCAIKLVTAVFSRYEKHRQ LILEEIFTSLARLPTSKRSLRNFRLNSSDMDGEPMYIQMVTALVLQLIQC VVHLPSSEKDSNAEEDSNKKIDQDVVITNSYETAMRTAQNFLSIFLKKCG SKQGEEDYRPLFENFVQDLLSTVNKPEWPAAELLLSLLGRLLVHQFSNKS TEMALRVASLDYLGTVAARLRKDAVTSKMDQGSIERILKQVSGGEDEIQQ LQKALLDYLDENTETDPSLVFSRKFYIAQWFRDTTLETEKAMKSQKDEES SEGTHHAKEIETTGQIMHRAENRKKFLRSIIKTTPSQFSTLKMNSDTVDY DDACLIVRYLASMRPFAQSFDIYLTQILRVLGENAIAVRTKAMKCLSEVV AVDPSILARLDMQRGVHGRLMDNSTSVREAAVELLGRFVLCRPQLAEQYY DMLIERILDTGISVRKRVIKILRDICIEQPTFPKITEMCVKMIRRVNDEE GIKKLVNETFQKLWFTPTPHNDKEAMTRKILNITDVVAACRDTGYDWFEQ LLQNLLKSEEDSSYKPVKKACTQLVDNLVEHILKYEESLADSDNKGVNSG RLVACITTLFLFSKIRPQLMVKHAMTMQPYLTTKCSTQNDFMVICNVAKI LELVVPLMEHPSETFLATIEEDLMKLIIKYGMTVVQHCVSCLGAVVNKVT QNFKFVWACFNRYYGAISKLKSQHQEDPNNTSLLTNKPALLRSLFTVGAL CRHFDFDLEDFKGNSKVNIKDKVLELLMYFTKHSDEEVQTKAIIGLGFAF IQHPSLMFEQEVKNLYNNILSDKNSSVNLKIQVLKNLQTYLQEEDTRMQQ ADRDWKKVAKQEDLKEMGDVSSGMSSSIMQLYLKQVLEAFFHTQSSVRHF ALNVIALTLNQGLIHPVQCVPYLIAMGTDPEPAMRNKADQQLVEIDKKYA GFIHMKAVAGMKMSYQVQQAINTCLKDPVRGFRQDESSSALCSHLYSMIR GNRQHRRAFLISLLNLFDDTAKTDVTMLLYIADNLACFPYQTQEEPLFIM HHIDITLSVSGSNLLQSFKESMVKDKRKERKSSPSKENESSDSEEEVSRP RKSRKRVDSDSDSDSEDDINSVMKCLPENSAPLIEFANVSQGILLLLMLK QHLKNLCGFSDSKIQKYSPSESAKVYDKAINRKTGVHFHPKQTLDFLRSD MANSKITEEVKRSIVKQYLDFKLLMEHLDPDEEEEEGEVSASTNARNKAI TSLLGGGSPKNNTAAETEDDESDGEDRGGGTSGSLRRSKRNSDSTELAAQ MNESVDVMDVIAICCPKYKDRPQIARVVQKTSSGFSVQWMAGSYSGSWTE AKRRDGRKLVPWVDTIKESDIIYKKIALTSANKLTNKVVQTLRSLYAAKD GTSS A 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 funkciyeyu nalezhit do fosfoproteyiniv Zadiyanij u takih biologichnih procesah yak klitinnij cikl polimorfizm acetilyuvannya alternativnij splajsing Lokalizovanij u yadri LiteraturaTonkin E T Wang T J Lisgo S Bamshad M J Strachan T 2004 NIPBL encoding a homolog of fungal Scc2 type sister chromatid cohesion proteins and fly Nipped B is mutated in Cornelia de Lange syndrome Nat Genet 36 636 641 PMID 15146185 DOI 10 1038 ng1363 The status quality and expansion of the NIH full length cDNA project the Mammalian Gene Collection MGC Genome Res 14 2121 2127 2004 PMID 15489334 DOI 10 1101 gr 2596504 Lechner M S Schultz D C Negorev D Maul G G Rauscher F J III 2005 The mammalian heterochromatin protein 1 binds diverse nuclear proteins through a common motif that targets the chromoshadow domain Biochem Biophys Res Commun 331 929 937 PMID 15882967 DOI 10 1016 j bbrc 2005 04 016 Beausoleil S A Villen J Gerber S A Rush J Gygi S P 2006 A probability based approach for high throughput protein phosphorylation analysis and site localization Nat Biotechnol 24 1285 1292 PMID 16964243 DOI 10 1038 nbt1240 Mei L Liang D Huang Y Pan Q Wu L 2015 Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome Gene 555 476 480 PMID 25447906 DOI 10 1016 j gene 2014 11 033 Park H D Ki C S Kim J W Kim W T Kim J K 2010 Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome two novel NIPBL mutations Ann Clin Lab Sci 40 20 25 PMID 20124326PrimitkiZahvoryuvannya genetichno pov yazani z NIPBL pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference HUGO Gene Nomenclature Commitee HGNC 28862 angl Procitovano 31 serpnya 2017 angl Arhiv originalu za 29 serpnya 2017 Procitovano 31 serpnya 2017 Div takozhHromosoma 5 Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi

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