Homo sapiens (human): 25836 Help Entry 25836             CDS       T01001                                  Symbol NIPBL, CDLS, CDLS1, IDN3, IDN3-B, Scc2 Name (RefSeq) NIPBL cohesin loading factor   KO K06672   cohesin loading factor subunit SCC2 Organism hsa  Homo sapiens (human) Pathway hsa04110   Cell cycle Network nt06512  Chromosome cohesion and segregation   Element N01482   Cohesin loading N01813   Enhancement of NIPBL loading Disease H00631   Cornelia de Lange syndrome Brite KEGG Orthology (KO) [BR:hsa00001]  09140 Cellular Processes   09143 Cell growth and death    04110 Cell cycle     25836 (NIPBL)  09180 Brite Hierarchies   09182 Protein families: genetic information processing    03036 Chromosome and associated proteins [BR:hsa03036]     25836 (NIPBL) Chromosome and associated proteins [BR:hsa03036]  Eukaryotic type   Sister chromatid cohesion proteins    Adherin complex     25836 (NIPBL) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  Nipped-B_C Cohesin_HEAT HEAT Cnd1 Cnd3 DNA_repr_REX1B Motif Other DBs NCBI-GeneID:  25836 NCBI-ProteinID:  NP_597677 OMIM:  608667 HGNC:  28862 Ensembl:  ENSG00000164190 UniProt:  Q6KC79 Structure PDB LinkDB All DBs Position 5:36876769..37066413 Genome browser AA seq 2804 aa AA seqDB search MNGDMPHVPITTLAGIASLTDLLNQLPLPSPLPATTTKSLLFNARIAEEVNCLLACRDDN LVSQLVHSLNQVSTDHIELKDNLGSDDPEGDIPVLLQAVLARSPNVFREKSMQNRYVQSG MMMSQYKLSQNSMHSSPASSNYQQTTISHSPSSRFVPPQTSSGNRFMPQQNSPVPSPYAP QSPAGYMPYSHPSSYTTHPQMQQASVSSPIVAGGLRNIHDNKVSGPLSGNSANHHADNPR HGSSEDYLHMVHRLSSDDGDSSTMRNAASFPLRSPQPVCSPAGSEGTPKGSRPPLILQSQ SLPCSSPRDVPPDILLDSPERKQKKQKKMKLGKDEKEQSEKAAMYDIISSPSKDSTKLTL RLSRVRSSDMDQQEDMISGVENSNVSENDIPFNVQYPGQTSKTPITPQDINRPLNAAQCL SQQEQTAFLPANQVPVLQQNTSVAAKQPQTSVVQNQQQISQQGPIYDEVELDALAEIERI ERESAIERERFSKEVQDKDKPLKKRKQDSYPQEAGGATGGNRPASQETGSTGNGSRPALM VSIDLHQAGRVDSQASITQDSDSIKKPEEIKQCNDAPVSVLQEDIVGSLKSTPENHPETP KKKSDPELSKSEMKQSESRLAESKPNENRLVETKSSENKLETKVETQTEELKQNESRTTE CKQNESTIVEPKQNENRLSDTKPNDNKQNNGRSETTKSRPETPKQKGESRPETPKQKSDG HPETPKQKGDGRPETPKQKGESRPETPKQKNEGRPETPKHRHDNRRDSGKPSTEKKPEVS KHKQDTKSDSPRLKSERAEALKQRPDGRSVSESLRRDHDNKQKSDDRGESERHRGDQSRV RRPETLRSSSRNEHGIKSDSSKTDKLERKHRHESGDSRERPSSGEQKSRPDSPRVKQGDS NKSRSDKLGFKSPTSKDDKRTEGNKSKVDTNKAHPDNKAEFPSYLLGGRSGALKNFVIPK IKRDKDGNVTQETKKMEMKGEPKDKVEKIGLVEDLNKGAKPVVVLQKLSLDDVQKLIKDR EDKSRSSLKPIKNKPSKSNKGSIDQSVLKELPPELLAEIESTMPLCERVKMNKRKRSTVN EKPKYAEISSDEDNDSDEAFESSRKRHKKDDDKAWEYEERDRRSSGDHRRSGHSHEGRRS SGGGRYRNRSPSDSDMEDYSPPPSLSEVARKMKKKEKQKKRKAYEPKLTPEEMMDSSTFK RFTASIENILDNLEDMDFTAFGDDDEIPQELLLGKHQLNELGSESAKIKAMGIMDKLSTD KTVKVLNILEKNIQDGSKLSTLLNHNNDTEEEERLWRDLIMERVTKSADACLTTINIMTS PNMPKAVYIEDVIERVIQYTKFHLQNTLYPQYDPVYRLDPHGGGLLSSKAKRAKCSTHKQ RVIVMLYNKVCDIVSSLSELLEIQLLTDTTILQVSSMGITPFFVENVSELQLCAIKLVTA VFSRYEKHRQLILEEIFTSLARLPTSKRSLRNFRLNSSDMDGEPMYIQMVTALVLQLIQC VVHLPSSEKDSNAEEDSNKKIDQDVVITNSYETAMRTAQNFLSIFLKKCGSKQGEEDYRP LFENFVQDLLSTVNKPEWPAAELLLSLLGRLLVHQFSNKSTEMALRVASLDYLGTVAARL RKDAVTSKMDQGSIERILKQVSGGEDEIQQLQKALLDYLDENTETDPSLVFSRKFYIAQW FRDTTLETEKAMKSQKDEESSEGTHHAKEIETTGQIMHRAENRKKFLRSIIKTTPSQFST LKMNSDTVDYDDACLIVRYLASMRPFAQSFDIYLTQILRVLGENAIAVRTKAMKCLSEVV AVDPSILARLDMQRGVHGRLMDNSTSVREAAVELLGRFVLCRPQLAEQYYDMLIERILDT GISVRKRVIKILRDICIEQPTFPKITEMCVKMIRRVNDEEGIKKLVNETFQKLWFTPTPH NDKEAMTRKILNITDVVAACRDTGYDWFEQLLQNLLKSEEDSSYKPVKKACTQLVDNLVE HILKYEESLADSDNKGVNSGRLVACITTLFLFSKIRPQLMVKHAMTMQPYLTTKCSTQND FMVICNVAKILELVVPLMEHPSETFLATIEEDLMKLIIKYGMTVVQHCVSCLGAVVNKVT QNFKFVWACFNRYYGAISKLKSQHQEDPNNTSLLTNKPALLRSLFTVGALCRHFDFDLED FKGNSKVNIKDKVLELLMYFTKHSDEEVQTKAIIGLGFAFIQHPSLMFEQEVKNLYNNIL SDKNSSVNLKIQVLKNLQTYLQEEDTRMQQADRDWKKVAKQEDLKEMGDVSSGMSSSIMQ LYLKQVLEAFFHTQSSVRHFALNVIALTLNQGLIHPVQCVPYLIAMGTDPEPAMRNKADQ QLVEIDKKYAGFIHMKAVAGMKMSYQVQQAINTCLKDPVRGFRQDESSSALCSHLYSMIR GNRQHRRAFLISLLNLFDDTAKTDVTMLLYIADNLACFPYQTQEEPLFIMHHIDITLSVS GSNLLQSFKESMVKDKRKERKSSPSKENESSDSEEEVSRPRKSRKRVDSDSDSDSEDDIN SVMKCLPENSAPLIEFANVSQGILLLLMLKQHLKNLCGFSDSKIQKYSPSESAKVYDKAI NRKTGVHFHPKQTLDFLRSDMANSKITEEVKRSIVKQYLDFKLLMEHLDPDEEEEEGEVS ASTNARNKAITSLLGGGSPKNNTAAETEDDESDGEDRGGGTSGSLRRSKRNSDSTELAAQ MNESVDVMDVIAICCPKYKDRPQIARVVQKTSSGFSVQWMAGSYSGSWTEAKRRDGRKLV PWVDTIKESDIIYKKIALTSANKLTNKVVQTLRSLYAAKDGTSS NT seq 8415 nt NT seq  +upstreamnt  +downstreamnt atgaatggggatatgccccatgtccccattactactcttgcggggattgctagtctcaca gacctcctgaaccagctgcctcttccatctcctttacctgctacaactacaaagagcctt ctctttaatgcacgaatagcagaagaggtgaactgccttttggcttgtagggatgacaat ttggtttcacagcttgtccatagcctcaaccaggtatcaacagatcacatagagttgaaa gataaccttggcagtgatgacccagaaggtgacataccagtcttgttgcaggccgtcctg gcaaggagtcctaatgttttcagggagaaaagcatgcagaacagatatgtacaaagtgga atgatgatgtctcagtataaactttctcagaattccatgcacagtagtcctgcatcttcc aattatcaacaaaccactatctcacatagcccctccagccggtttgtgccaccacagaca agctctgggaacagatttatgccacagcaaaatagcccagtgcctagtccatacgcccca caaagccctgcaggatacatgccatattcccatccttcaagttacacaacacatccacag atgcaacaagcatcggtatcaagtcccattgttgcaggtggtttgagaaacatacatgat aataaagtttctggtccgttgtctggcaattcagctaatcatcatgctgataatcctaga catggttcaagtgaggactacctacacatggtgcacaggctaagtagtgacgatggagat tcttcaacaatgaggaatgctgcatcttttcccttgagatctccacagccagtatgctcc cctgctggaagtgaaggaactcctaaaggctcaagaccacctttaatcctacaatctcag tctctaccttgttcatcacctcgagatgttccaccagatatcttgctagattctccagaa agaaaacaaaagaagcagaagaaaatgaaattaggcaaggatgaaaaagagcagagtgag aaagcggcaatgtatgatataattagttctccatccaaggactctactaaacttacatta agactttctcgtgtaaggtcttcagacatggaccagcaagaggatatgatttctggtgtg gaaaatagcaatgtttcagaaaatgatattccttttaatgtgcagtacccaggacagact tcaaaaacacccattactccacaagatataaaccgcccactaaatgctgctcaatgtttg tcgcagcaagaacaaacagcattccttccagcaaatcaagtgcctgttttacaacagaac acttcagttgctgcaaaacaaccccagacttctgtggtacagaatcaacaacagatatca caacagggacctatatatgatgaagtggaattggatgcattggctgaaattgagcgaata gagagagaatcagctattgaaagggagcgcttctcaaaagaagttcaagataaagataag cctttgaaaaaaagaaaacaagattcttacccacaggaggctgggggtgctacaggaggt aatagaccagcttctcaggagacgggttctacgggaaatgggtcaaggccagcattaatg gttagcattgatcttcatcaggcaggaagagtggactctcaggcttctataactcaggat tcagactccataaaaaagcctgaagaaatcaaacaatgtaatgatgcacctgtttctgtt cttcaggaagatattgttggaagtcttaaatctacaccagaaaaccatcctgagacacct aaaaaaaagtctgatcctgagctttcaaagagtgaaatgaaacaaagtgaaagtagatta gcagaatctaaaccaaatgaaaaccgattggtggagacaaaatcaagtgaaaataagtta gaaactaaagttgagacccaaacagaagaacttaaacagaatgagagcagaacaactgaa tgcaaacaaaacgagagcaccatagttgagcctaaacaaaatgaaaatagactgtctgac acaaaaccaaatgacaacaaacaaaataatggcagatcagaaacaacaaaatcaaggcct gaaaccccaaagcaaaagggtgaaagccggcctgagactccaaaacaaaagagtgatggg catcctgaaaccccaaaacagaagggtgatggaaggcctgaaactccaaagcaaaaaggt gagagccgccctgaaactccaaagcaaaaaaatgaagggcgacctgaaacaccaaaacac aggcatgacaataggagggattctggaaagccatctacagagaaaaaacctgaagtgtct aaacataaacaagatactaaatctgactcacctcggttaaaatcagaacgagctgaagcc ttaaagcagagacctgatgggcgatctgtttctgagtcactaagacgtgaccatgataat aaacaaaaatcagatgacaggggtgaatcagagcgacatcgaggggatcagtctagggtt cgaagaccagaaacattgagatcctctagtagaaatgaacatggcattaaatctgatagt tcaaaaactgataaactagaacgaaaacacaggcatgaatcaggggactcaagggaaaga ccatcttctggggaacaaaaatcaagacctgacagtcctcgtgttaaacaaggagattct aataaatcaagatctgataaacttggttttaaatcaccaactagtaaagatgacaaaagg acagagggtaacaagagtaaagtagacactaataaagcacaccctgacaataaggcagaa tttccaagttatttgttggggggcaggtctggtgcgttgaaaaattttgtcattccgaaa atcaagagggataaagatggcaatgttactcaggagacaaagaaaatggaaatgaaagga gagccgaaagacaaagtagaaaaaataggattagttgaagatctaaataaaggagctaag cctgtagttgtgctacaaaaactgtctttggatgatgttcagaaacttattaaagataga gaggacaaatcaagaagttcccttaaacctatcaagaataaaccatcaaagtcaaataaa ggtagtatagatcaatcagtgttaaaagaattaccccctgaactcctggcagaaattgag tccaccatgccactttgtgaacgtgtgaaaatgaacaaacgcaagcgtagcacagttaat gaaaagccaaaatatgctgaaatcagttcagatgaagataatgatagtgatgaagctttt gaatcctctaggaaacgacataaaaaagatgatgataaagcttgggaatatgaagagcgt gacagaagaagctctggggatcataggagaagtggccactctcatgaaggaagaaggagt tcaggtggtggtcgttatcgaaaccgaagtccgtcagattctgacatggaagattattct cctcctcccagccttagtgaggttgctaggaaaatgaagaaaaaagaaaaacagaagaaa aggaaagcatatgaaccaaaactaacacctgaagaaatgatggactcttcaacttttaag agattcacagcctcaatagagaatattttggataatttggaagatatggattttactgcg tttggtgatgatgatgaaattcctcaggaactgctcttaggaaaacatcagcttaatgaa cttggcagtgaatctgctaaaataaaagcaatgggtataatggataagctttcaactgac aaaactgtgaaagtcttaaatatcttggagaagaatattcaggatgggtcaaagctttcc actttgttaaatcataataacgatactgaagaagaagaaaggttatggagagaccttatt atggagagagttacaaaatcagcggatgcttgtcttacaactatcaacattatgacatcc cctaacatgccaaaagctgtgtacattgaggatgtaattgaaagagttatacagtacact aaatttcatttgcagaatacactttatcctcagtatgatcctgtttacagattagatcct catggaggaggcttattaagttcaaaagcaaaacgggctaaatgttctacccataagcag agagtaatagtaatgctttataacaaagtttgtgacattgttagcagcttatcagaattg ctagagatacaacttcttacagacacaacaattcttcaggtttcatctatgggaataaca ccattttttgtggaaaatgtcagtgaactacagttgtgtgccattaagttagtcactgca gtattctcaagatatgaaaaacataggcagttaattttggaagaaatttttacttcactt gcaagattaccaaccagcaagaggagtttaaggaacttcaggttaaacagtagtgatatg gatggagaacctatgtatattcagatggttacagcactggttttacaacttattcagtgt gtggtacacttaccatcatcagagaaggactctaatgcagaagaagattcaaataaaaaa attgaccaggatgttgtcattactaactcttatgaaacagctatgcgaacagcccaaaac ttcctctccatcttccttaaaaaatgtggtagtaagcaaggtgaagaagattacagacca ctgtttgaaaattttgttcaagaccttctttcaacagtcaataagcctgaatggccagct gctgaactactccttagtttgttagggagactgttggttcatcagttcagtaacaagtca acagagatggctttaagagtggcatctcttgattaccttggaactgttgctgcacggcta agaaaagatgctgttacaagcaaaatggatcaaggatctatagaacgcattttaaaacag gtttcaggaggggaagatgaaatccaacaattacaaaaagcattgcttgattacttggat gaaaacactgagactgatccttcactagtgttttctcgtaaattctatatagcccagtgg tttcgagacacaactctggaaacagaaaaagcaatgaaatcacaaaaagatgaagaatca tctgaaggaacacatcatgcaaaggaaattgagacaactggccaaattatgcatcgagct gaaaaccgaaaaaagtttcttagaagcattatcaaaaccacaccttctcagtttagcaca ttaaagatgaactctgatactgtggactatgatgatgcttgcttgattgttcgatacttg gcctccatgaggccgtttgcccagagctttgatatttatttgacacagatcctacgagtt cttggtgaaaatgcaattgctgttcgaacaaaagccatgaagtgtttgtctgaggttgtt gctgtagaccccagtattctagcaaggcttgatatgcaacgaggtgttcatggacgattg atggataattcgactagtgtccgagaagcagcagtagaattactaggtcgatttgtcctt tgtcgacctcagcttgctgaacagtattatgatatgctgattgaaagaatattggatact ggtatcagtgtcaggaaaagagtaataaagattctcagagacatttgtattgaacaacca acatttccaaaaatcacagaaatgtgtgtaaaaatgattcgcagagtcaatgatgaagag ggcattaagaaattagtaaatgaaacattccagaaactctggtttactccaactccacac aatgacaaagaagcaatgacaaggaaaattttaaacattaccgatgtggttgcagcatgc agagatactggatatgactggtttgagcaactgcttcaaaacttgttgaagtccgaagag gattcctcatataaacctgtgaagaaagcttgtactcaacttgttgataacctagttgag cacattcttaaatatgaggaatctctagctgactctgacaataaaggtgtgaattctgga agattggtagcttgcataaccactttgttcttattcagcaaaataagaccccagctcatg gttaaacatgcaatgactatgcaaccataccttaccactaaatgtagtacgcaaaatgat ttcatggttatctgcaatgttgcaaaaatcctagagctagttgtaccactgatggagcat ccaagtgaaacttttcttgccactattgaggaagatctaatgaagctcatcatcaaatat ggcatgactgtagtgcaacattgtgtgagctgtcttggagctgttgtaaataaagtgaca caaaattttaaatttgtgtgggcttgtttcaatagatactatggtgccatttcaaaatta aaaagtcaacaccaagaggacccaaataacacttcacttctaacaaacaaaccagcactt cttagatcccttttcaccgttggagcactatgtcggcattttgattttgatctggaagat tttaaaggcaacagcaaggttaacataaaagataaagtacttgaactattgatgtatttt acaaaacactcagatgaagaagtacaaacaaaagctatcattggtctaggatttgccttt attcagcatccaagtctaatgttcgagcaagaagtgaagaatctatataataatatttta tctgataagaactcctcagtcaatttaaaaatacaagtgttaaaaaacctccagacctac ctacaagaagaagatacacgtatgcagcaggcagatagagactggaagaaagttgcaaaa caggaagacttaaaagaaatgggtgatgtttcctcagggatgagtagttccatcatgcag ctttatctcaaacaggtgcttgaggcattttttcacacccagtcaagtgtacgccacttt gccctaaatgtcattgcattgactctaaatcaaggtcttattcatccagttcagtgtgtg ccatatttaattgctatgggcacagacccagaacctgctatgcggaacaaggctgatcag caacttgtggaaatagacaaaaaatatgctggattcattcatatgaaagcagtggctggt atgaagatgtcttaccaggtacaacaggcaatcaacacatgcctaaaagatcctgtaagg ggtttcagacaagacgagtcctctagcgctttgtgttcacacctttactccatgatccgt ggaaaccgccaacacagacgagcctttcttatttctttactcaacctctttgatgacaca gcaaaaacagacgtgactatgctcttgtatatagcagacaatctagcctgttttccatac cagacacaggaagagccgttgtttataatgcatcatatagacattacactctcagtttct ggtagtaacctactgcagtcattcaaggagtctatggtaaaggacaaaaggaaagagaga aaatcatcacctagtaaggaaaatgagtcaagcgacagtgaagaagaagtttccaggcct cggaagtcacggaaacgtgtagattcagattcagattcagattcagaagacgatataaat tcagtgatgaaatgtttgccagaaaattcagctcctttaatcgaatttgcaaatgtgtcc cagggtattttattacttctcatgttaaaacaacatttgaagaatctttgtggattttct gatagtaaaattcagaagtactctccatctgaatctgcaaaagtatatgataaagcgata aaccgaaaaacaggagttcattttcatccaaaacaaacactggacttcctgcggagtgac atggctaattccaaaatcacagaagaggtgaaaaggagtatagtaaaacagtatctagat ttcaaacttctcatggaacatctggaccctgatgaagaagaagaagaaggggaggtttca gctagcacaaatgctcggaacaaagcaattacctcactgcttggaggaggcagccctaaa aataatacagcagcagagacagaagatgatgaaagtgatggggaggatagaggaggaggc acttcagggtcattgagaaggtcaaaacgaaattcagactctacggagttggcagcacag atgaatgaaagtgttgacgtcatggatgtcatcgctatttgctgtccaaagtacaaagat cgaccacaaattgcaagagtagtgcagaaaaccagcagtggcttcagtgttcagtggatg gcaggctcctacagtggctcctggactgaggctaagcgccgtgatggccgcaaactggtg ccttgggtagacactattaaagagtcagacattatttacaaaaaaattgctctaacgagt gctaataagctgactaataaagttgttcagactttacgatccctgtatgccgccaaggat gggacttccagctaa

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