KEGG   Homo sapiens (human): 25836Help
Entry
25836             CDS       T01001                                 

Gene name
NIPBL, CDLS, CDLS1, IDN3, IDN3-B, Scc2
Definition
(RefSeq) NIPBL, cohesin loading factor
  KO
K06672  cohesin loading factor subunit SCC2
Organism
hsa  Homo sapiens (human)
Disease
H00631  Cornelia de Lange syndrome (CdLS)
Brite
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic Type
  Sister chromatid cohesion proteins
   Adherin complex
    25836 (NIPBL)
BRITE hierarchy
SSDB OrthologParalogGFIT
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
Vega: OTTHUMG00000090795
Pharos: Q6KC79(Tbio)
UniProt: Q6KC79
Position
5p13.2
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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