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

Gene name
NIPBL, CDLS, CDLS1, IDN3, IDN3-B, Scc2
Definition
Nipped-B homolog (Drosophila)
Orthology
K06672  
cohesin loading factor subunit SCC2
Organism
hsa  Homo sapiens (human)
Disease
H00631  
Cornelia de Lange syndrome (CdLS)
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
5p13.2
AA seq 2697 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
ASTNARNKAITSLLGGGSPKNNTAAETEDDESDGEDRGGGTSGVRRRRSQRISQRIT
NT seq 8094 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
acttcaggggtgaggcggaggaggagtcaacgtatttcgcagcgtattacgtaa

DBGET integrated database retrieval system