UniProtKB - Q6KC79 (NIPBL_HUMAN)
Nipped-B-like protein
NIPBL
Functioni
GO - Molecular functioni
- chromatin binding Source: GO_Central
- chromo shadow domain binding Source: BHF-UCL
- histone deacetylase binding Source: BHF-UCL
- mediator complex binding Source: Ensembl
- promoter-specific chromatin binding Source: ARUK-UCL
- protein C-terminus binding Source: UniProtKB
- protein N-terminus binding Source: UniProtKB
GO - Biological processi
- brain development Source: BHF-UCL
- cellular protein localization Source: UniProtKB
- cellular response to DNA damage stimulus Source: UniProtKB
- cellular response to X-ray Source: UniProtKB
- cognition Source: BHF-UCL
- cohesin loading Source: UniProtKB
- developmental growth Source: BHF-UCL
- digestive tract development Source: GO_Central
- double-strand break repair Source: GO_Central
- ear morphogenesis Source: BHF-UCL
- embryonic digestive tract morphogenesis Source: BHF-UCL
- embryonic forelimb morphogenesis Source: BHF-UCL
- embryonic viscerocranium morphogenesis Source: GO_Central
- establishment of mitotic sister chromatid cohesion Source: GO_Central
- establishment of protein localization to chromatin Source: GO_Central
- external genitalia morphogenesis Source: BHF-UCL
- eye morphogenesis Source: BHF-UCL
- face morphogenesis Source: BHF-UCL
- fat cell differentiation Source: Ensembl
- forelimb morphogenesis Source: BHF-UCL
- gall bladder development Source: BHF-UCL
- heart morphogenesis Source: BHF-UCL
- maintenance of mitotic sister chromatid cohesion Source: UniProtKB
- metanephros development Source: BHF-UCL
- mitotic chromosome condensation Source: GO_Central
- mitotic sister chromatid cohesion Source: UniProtKB
- negative regulation of transcription, DNA-templated Source: BHF-UCL
- negative regulation of transcription by RNA polymerase II Source: BHF-UCL
- outflow tract morphogenesis Source: BHF-UCL
- positive regulation of histone deacetylation Source: BHF-UCL
- positive regulation of mitotic cohesin loading Source: GO_Central
- positive regulation of multicellular organism growth Source: Ensembl
- positive regulation of neuron migration Source: UniProtKB
- positive regulation of ossification Source: Ensembl
- rDNA condensation Source: GO_Central
- regulation of developmental growth Source: BHF-UCL
- regulation of embryonic development Source: BHF-UCL
- regulation of hair cycle Source: BHF-UCL
- replication-born double-strand break repair via sister chromatid exchange Source: GO_Central
- sensory perception of sound Source: BHF-UCL
- stem cell population maintenance Source: Ensembl
- transcriptional activation by promoter-enhancer looping Source: GO_Central
- uterus morphogenesis Source: BHF-UCL
Keywordsi
Molecular function | Activator, Developmental protein |
Biological process | Cell cycle, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q6KC79 |
Reactomei | R-HSA-2470946, Cohesin Loading onto Chromatin |
Names & Taxonomyi
Protein namesi | Recommended name: Nipped-B-like proteinAlternative name(s): Delangin SCC2 homolog |
Gene namesi | Name:NIPBL Synonyms:IDN3, SCC21 Publication |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000164190.16 |
HGNCi | HGNC:28862, NIPBL |
MIMi | 608667, gene |
neXtProti | NX_Q6KC79 |
Subcellular locationi
Nucleus
- Nucleus 2 Publications
Other locations
- Chromosome By similarity
Cytosol
- cytosol Source: HPA
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Nucleus
- integrator complex Source: UniProtKB
- nuclear chromatin Source: GO_Central
- nuclear chromosome Source: GO_Central
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
- Scc2-Scc4 cohesin loading complex Source: UniProtKB
- SMC loading complex Source: UniProtKB
Other locations
- chromatin Source: GO_Central
- intracellular membrane-bounded organelle Source: HPA
Keywords - Cellular componenti
Chromosome, NucleusPathology & Biotechi
Involvement in diseasei
Cornelia de Lange syndrome 1 (CDLS1)9 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_072996 | 15 | G → R in CDLS1; strongly inhibits interaction with SCC4. 2 Publications | 1 | |
Natural variantiVAR_072997 | 29 | P → Q in CDLS1; strongly inhibits interaction with SCC4. 1 Publication | 1 | |
Natural variantiVAR_072998 | 70 | N → I in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_072999 | 73 | S → L in CDLS1; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_073000 | 111 | S → T in CDLS1; no effect on interaction with SCC4. 1 Publication | 1 | |
Natural variantiVAR_073001 | 179 | A → S in CDLS1; no effect on interaction with SCC4. 2 Publications | 1 | |
Natural variantiVAR_073002 | 179 | A → T in CDLS1; benign variant; no effect on interaction with SCC4. 1 PublicationCorresponds to variant dbSNP:rs142923613EnsemblClinVar. | 1 | |
Natural variantiVAR_073003 | 192 | P → L in CDLS1; no effect on interaction with SCC4. 1 Publication | 1 | |
Natural variantiVAR_073004 | 246 | D → G in CDLS1; no effect on interaction with SCC4. 2 PublicationsCorresponds to variant dbSNP:rs587784042EnsemblClinVar. | 1 | |
Natural variantiVAR_073005 | 254 | L → V in CDLS1; no effect on interaction with SCC4. 1 Publication | 1 | |
Natural variantiVAR_073006 | 351 | P → T in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_073007 | 357 | K → N in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_073008 | 868 | R → Q in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs149629686EnsemblClinVar. | 1 | |
Natural variantiVAR_038413 | 1206 | Missing in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_073009 | 1207 | E → K in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_021598 | 1246 | A → G in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs121918268EnsemblClinVar. | 1 | |
Natural variantiVAR_019519 | 1311 | C → R in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_021599 | 1312 | L → P in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_073010 | 1343 | H → P in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_019520 | 1348 | L → R in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_073011 | 1441 | V → L in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs727503769EnsemblClinVar. | 1 | |
Natural variantiVAR_073012 | 1625 | V → F in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_073013 | 1637 | I → L in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_073014 | 1722 | N → H in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_021600 | 1789 | R → L in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_021601 | 1803 | D → V in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_021602 | 1856 | R → T in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_064544 | 1897 | Missing in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_064545 | 2081 | G → A in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs587784000EnsemblClinVar. | 1 | |
Natural variantiVAR_064546 | 2090 | S → I in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_073015 | 2091 | C → F in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_064547 | 2150 | L → P in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_073016 | 2218 | Missing in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_021603 | 2298 | R → C in CDLS1. 2 PublicationsCorresponds to variant dbSNP:rs80358376EnsemblClinVar. | 1 | |
Natural variantiVAR_021604 | 2298 | R → H in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs587784024EnsemblClinVar. | 1 | |
Natural variantiVAR_021605 | 2312 | G → R in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_073017 | 2312 | G → V in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs587784025EnsemblClinVar. | 1 | |
Natural variantiVAR_021606 | 2381 | G → A in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_021607 | 2390 | A → T in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs587784036EnsemblClinVar. | 1 | |
Natural variantiVAR_019521 | 2430 | Y → C in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs121918265EnsemblClinVar. | 1 | |
Natural variantiVAR_073018 | 2433 | D → N in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_021608 | 2440 | Y → H in CDLS1. 1 Publication | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 1003 | V → A: Abolishes interaction with CBX3; when associated with A-1005. 2 Publications | 1 | |
Mutagenesisi | 1003 | V → E: Abolishes interaction with CBX5; when associated with E-1005. 1 Publication | 1 | |
Mutagenesisi | 1005 | L → A: Abolishes interaction with CBX3; when associated with A-1003. 1 Publication | 1 | |
Mutagenesisi | 1005 | L → E: Abolishes interaction with CBX5; when associated with E-1003. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, Mental retardationOrganism-specific databases
DisGeNETi | 25836 |
GeneReviewsi | NIPBL |
MalaCardsi | NIPBL |
MIMi | 122470, phenotype |
OpenTargetsi | ENSG00000164190 |
Orphaneti | 329802, 5p13 microduplication syndrome 199, Cornelia de Lange syndrome |
PharmGKBi | PA134962343 |
Miscellaneous databases
Pharosi | Q6KC79, Tbio |
Polymorphism and mutation databases
BioMutai | NIPBL |
DMDMi | 50400865 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000218596 | 1 – 2804 | Nipped-B-like proteinAdd BLAST | 2804 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Modified residuei | 150 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 162 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 243 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 256 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 274 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 280 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 284 | PhosphoserineBy similarity | 1 | ||
Modified residuei | 301 | PhosphoserineBy similarity | 1 | ||
Modified residuei | 306 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 318 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 350 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 713 | PhosphothreonineCombined sources | 1 | ||
Modified residuei | 746 | PhosphothreonineCombined sources | 1 | ||
Modified residuei | 912 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 1082 | N6-acetyllysineBy similarity | 1 | ||
Modified residuei | 1089 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 1090 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 1096 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 1150 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 1152 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 1154 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 1159 | PhosphotyrosineBy similarity | 1 | ||
Modified residuei | 1160 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 1189 | PhosphothreonineCombined sources | 1 | ||
Modified residuei | 1197 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 2493 | PhosphoserineBy similarity | 1 | ||
Modified residuei | 2509 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 2511 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 2513 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 2515 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 2652 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 2658 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 2667 | PhosphothreonineCombined sources | 1 | ||
Modified residuei | 2672 | PhosphoserineCombined sources | 1 | ||
Isoform 2 (identifier: Q6KC79-2) | |||||
Modified residuei | 2667 | PhosphothreonineCombined sources | 1 | ||
Modified residuei | 2672 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q6KC79 |
jPOSTi | Q6KC79 |
MassIVEi | Q6KC79 |
MaxQBi | Q6KC79 |
PaxDbi | Q6KC79 |
PeptideAtlasi | Q6KC79 |
PRIDEi | Q6KC79 |
ProteomicsDBi | 66538 [Q6KC79-1] 66539 [Q6KC79-2] 66540 [Q6KC79-3] |
PTM databases
iPTMneti | Q6KC79 |
PhosphoSitePlusi | Q6KC79 |
Expressioni
Tissue specificityi
Developmental stagei
Gene expression databases
Bgeei | ENSG00000164190, Expressed in ventricular zone and 232 other tissues |
ExpressionAtlasi | Q6KC79, baseline and differential |
Genevisiblei | Q6KC79, HS |
Organism-specific databases
HPAi | ENSG00000164190, Low tissue specificity |
Interactioni
Subunit structurei
Heterodimerizes with MAU2/SCC4 to form the cohesin loading complex (PubMed:16682347, PubMed:16802858, PubMed:21934712, PubMed:28167679, PubMed:22628566). The NIPBL-MAU2 heterodimer interacts with the SMC1A-SMC3 heterodimer and with the cohesin complex composed of SMC1A, SMC3, RAD21 and STAG1 (PubMed:22628566).
Interacts directly (via PxVxL motif) with CBX5 (PubMed:15882967, PubMed:20562864).
Interacts with ZNF609 (via N-terminus) (By similarity).
Interacts with the multiprotein complex Integrator (By similarity).
Interacts (via PxVxL motif) with CBX3 (PubMed:28167679).
By similarity7 PublicationsBinary interactionsi
Q6KC79
With | #Exp. | IntAct |
---|---|---|
MAU2 [Q9Y6X3] | 7 | EBI-722767,EBI-4395624 |
GO - Molecular functioni
- chromo shadow domain binding Source: BHF-UCL
- histone deacetylase binding Source: BHF-UCL
- protein C-terminus binding Source: UniProtKB
- protein N-terminus binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 117363, 58 interactors |
DIPi | DIP-29199N |
IntActi | Q6KC79, 21 interactors |
MINTi | Q6KC79 |
STRINGi | 9606.ENSP00000282516 |
Miscellaneous databases
RNActi | Q6KC79, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 1767 – 1805 | HEAT 1Add BLAST | 39 | |
Repeati | 1843 – 1881 | HEAT 2Add BLAST | 39 | |
Repeati | 1945 – 1984 | HEAT 3Add BLAST | 40 | |
Repeati | 2227 – 2267 | HEAT 4Add BLAST | 41 | |
Repeati | 2313 – 2351 | HEAT 5Add BLAST | 39 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 996 – 1009 | PxVxL motif2 PublicationsAdd BLAST | 14 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 418 – 462 | Gln-richAdd BLAST | 45 |
Domaini
Sequence similaritiesi
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG1020, Eukaryota |
GeneTreei | ENSGT00390000010427 |
HOGENOMi | CLU_000763_0_0_1 |
InParanoidi | Q6KC79 |
OMAi | ITPQDIN |
OrthoDBi | 7137at2759 |
PhylomeDBi | Q6KC79 |
TreeFami | TF313121 |
Family and domain databases
Gene3Di | 1.25.10.10, 1 hit |
InterProi | View protein in InterPro IPR011989, ARM-like IPR016024, ARM-type_fold IPR026003, Cohesin_HEAT IPR024986, Nipped-B_C IPR033031, SCC2/Nipped-B |
PANTHERi | PTHR21704, PTHR21704, 2 hits |
Pfami | View protein in Pfam PF12765, Cohesin_HEAT, 1 hit PF12830, Nipped-B_C, 1 hit |
SUPFAMi | SSF48371, SSF48371, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MNGDMPHVPI TTLAGIASLT DLLNQLPLPS PLPATTTKSL LFNARIAEEV
60 70 80 90 100
NCLLACRDDN LVSQLVHSLN QVSTDHIELK DNLGSDDPEG DIPVLLQAVL
110 120 130 140 150
ARSPNVFREK SMQNRYVQSG MMMSQYKLSQ NSMHSSPASS NYQQTTISHS
160 170 180 190 200
PSSRFVPPQT SSGNRFMPQQ NSPVPSPYAP QSPAGYMPYS HPSSYTTHPQ
210 220 230 240 250
MQQASVSSPI VAGGLRNIHD NKVSGPLSGN SANHHADNPR HGSSEDYLHM
260 270 280 290 300
VHRLSSDDGD SSTMRNAASF PLRSPQPVCS PAGSEGTPKG SRPPLILQSQ
310 320 330 340 350
SLPCSSPRDV PPDILLDSPE RKQKKQKKMK LGKDEKEQSE KAAMYDIISS
360 370 380 390 400
PSKDSTKLTL RLSRVRSSDM DQQEDMISGV ENSNVSENDI PFNVQYPGQT
410 420 430 440 450
SKTPITPQDI NRPLNAAQCL SQQEQTAFLP ANQVPVLQQN TSVAAKQPQT
460 470 480 490 500
SVVQNQQQIS QQGPIYDEVE LDALAEIERI ERESAIERER FSKEVQDKDK
510 520 530 540 550
PLKKRKQDSY PQEAGGATGG NRPASQETGS TGNGSRPALM VSIDLHQAGR
560 570 580 590 600
VDSQASITQD SDSIKKPEEI KQCNDAPVSV LQEDIVGSLK STPENHPETP
610 620 630 640 650
KKKSDPELSK SEMKQSESRL AESKPNENRL VETKSSENKL ETKVETQTEE
660 670 680 690 700
LKQNESRTTE CKQNESTIVE PKQNENRLSD TKPNDNKQNN GRSETTKSRP
710 720 730 740 750
ETPKQKGESR PETPKQKSDG HPETPKQKGD GRPETPKQKG ESRPETPKQK
760 770 780 790 800
NEGRPETPKH RHDNRRDSGK PSTEKKPEVS KHKQDTKSDS PRLKSERAEA
810 820 830 840 850
LKQRPDGRSV SESLRRDHDN KQKSDDRGES ERHRGDQSRV RRPETLRSSS
860 870 880 890 900
RNEHGIKSDS SKTDKLERKH RHESGDSRER PSSGEQKSRP DSPRVKQGDS
910 920 930 940 950
NKSRSDKLGF KSPTSKDDKR TEGNKSKVDT NKAHPDNKAE FPSYLLGGRS
960 970 980 990 1000
GALKNFVIPK IKRDKDGNVT QETKKMEMKG EPKDKVEKIG LVEDLNKGAK
1010 1020 1030 1040 1050
PVVVLQKLSL DDVQKLIKDR EDKSRSSLKP IKNKPSKSNK GSIDQSVLKE
1060 1070 1080 1090 1100
LPPELLAEIE STMPLCERVK MNKRKRSTVN EKPKYAEISS DEDNDSDEAF
1110 1120 1130 1140 1150
ESSRKRHKKD DDKAWEYEER DRRSSGDHRR SGHSHEGRRS SGGGRYRNRS
1160 1170 1180 1190 1200
PSDSDMEDYS PPPSLSEVAR KMKKKEKQKK RKAYEPKLTP EEMMDSSTFK
1210 1220 1230 1240 1250
RFTASIENIL DNLEDMDFTA FGDDDEIPQE LLLGKHQLNE LGSESAKIKA
1260 1270 1280 1290 1300
MGIMDKLSTD KTVKVLNILE KNIQDGSKLS TLLNHNNDTE EEERLWRDLI
1310 1320 1330 1340 1350
MERVTKSADA CLTTINIMTS PNMPKAVYIE DVIERVIQYT KFHLQNTLYP
1360 1370 1380 1390 1400
QYDPVYRLDP HGGGLLSSKA KRAKCSTHKQ RVIVMLYNKV CDIVSSLSEL
1410 1420 1430 1440 1450
LEIQLLTDTT ILQVSSMGIT PFFVENVSEL QLCAIKLVTA VFSRYEKHRQ
1460 1470 1480 1490 1500
LILEEIFTSL ARLPTSKRSL RNFRLNSSDM DGEPMYIQMV TALVLQLIQC
1510 1520 1530 1540 1550
VVHLPSSEKD SNAEEDSNKK IDQDVVITNS YETAMRTAQN FLSIFLKKCG
1560 1570 1580 1590 1600
SKQGEEDYRP LFENFVQDLL STVNKPEWPA AELLLSLLGR LLVHQFSNKS
1610 1620 1630 1640 1650
TEMALRVASL DYLGTVAARL RKDAVTSKMD QGSIERILKQ VSGGEDEIQQ
1660 1670 1680 1690 1700
LQKALLDYLD ENTETDPSLV FSRKFYIAQW FRDTTLETEK AMKSQKDEES
1710 1720 1730 1740 1750
SEGTHHAKEI ETTGQIMHRA ENRKKFLRSI IKTTPSQFST LKMNSDTVDY
1760 1770 1780 1790 1800
DDACLIVRYL ASMRPFAQSF DIYLTQILRV LGENAIAVRT KAMKCLSEVV
1810 1820 1830 1840 1850
AVDPSILARL DMQRGVHGRL MDNSTSVREA AVELLGRFVL CRPQLAEQYY
1860 1870 1880 1890 1900
DMLIERILDT GISVRKRVIK ILRDICIEQP TFPKITEMCV KMIRRVNDEE
1910 1920 1930 1940 1950
GIKKLVNETF QKLWFTPTPH NDKEAMTRKI LNITDVVAAC RDTGYDWFEQ
1960 1970 1980 1990 2000
LLQNLLKSEE DSSYKPVKKA CTQLVDNLVE HILKYEESLA DSDNKGVNSG
2010 2020 2030 2040 2050
RLVACITTLF LFSKIRPQLM VKHAMTMQPY LTTKCSTQND FMVICNVAKI
2060 2070 2080 2090 2100
LELVVPLMEH PSETFLATIE EDLMKLIIKY GMTVVQHCVS CLGAVVNKVT
2110 2120 2130 2140 2150
QNFKFVWACF NRYYGAISKL KSQHQEDPNN TSLLTNKPAL LRSLFTVGAL
2160 2170 2180 2190 2200
CRHFDFDLED FKGNSKVNIK DKVLELLMYF TKHSDEEVQT KAIIGLGFAF
2210 2220 2230 2240 2250
IQHPSLMFEQ EVKNLYNNIL SDKNSSVNLK IQVLKNLQTY LQEEDTRMQQ
2260 2270 2280 2290 2300
ADRDWKKVAK QEDLKEMGDV SSGMSSSIMQ LYLKQVLEAF FHTQSSVRHF
2310 2320 2330 2340 2350
ALNVIALTLN QGLIHPVQCV PYLIAMGTDP EPAMRNKADQ QLVEIDKKYA
2360 2370 2380 2390 2400
GFIHMKAVAG MKMSYQVQQA INTCLKDPVR GFRQDESSSA LCSHLYSMIR
2410 2420 2430 2440 2450
GNRQHRRAFL ISLLNLFDDT AKTDVTMLLY IADNLACFPY QTQEEPLFIM
2460 2470 2480 2490 2500
HHIDITLSVS GSNLLQSFKE SMVKDKRKER KSSPSKENES SDSEEEVSRP
2510 2520 2530 2540 2550
RKSRKRVDSD SDSDSEDDIN SVMKCLPENS APLIEFANVS QGILLLLMLK
2560 2570 2580 2590 2600
QHLKNLCGFS DSKIQKYSPS ESAKVYDKAI NRKTGVHFHP KQTLDFLRSD
2610 2620 2630 2640 2650
MANSKITEEV KRSIVKQYLD FKLLMEHLDP DEEEEEGEVS ASTNARNKAI
2660 2670 2680 2690 2700
TSLLGGGSPK NNTAAETEDD ESDGEDRGGG TSGSLRRSKR NSDSTELAAQ
2710 2720 2730 2740 2750
MNESVDVMDV IAICCPKYKD RPQIARVVQK TSSGFSVQWM AGSYSGSWTE
2760 2770 2780 2790 2800
AKRRDGRKLV PWVDTIKESD IIYKKIALTS ANKLTNKVVQ TLRSLYAAKD
GTSS
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A590UJS4 | A0A590UJS4_HUMAN | Nipped-B protein | NIPBL | 2,649 | Annotation score: | ||
H0Y8M3 | H0Y8M3_HUMAN | Nipped-B-like protein | NIPBL | 150 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 318 | S → F (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 548 | A → T in CAD98051 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 548 | A → T in CAD98052 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 574 | N → S in CAD98051 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 574 | N → S in CAD98052 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 648 | T → I in CAD98051 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 648 | T → I in CAD98052 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 1172 | M → K in CAD98051 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 1172 | M → K in CAD98052 (PubMed:17974005).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_072996 | 15 | G → R in CDLS1; strongly inhibits interaction with SCC4. 2 Publications | 1 | |
Natural variantiVAR_072997 | 29 | P → Q in CDLS1; strongly inhibits interaction with SCC4. 1 Publication | 1 | |
Natural variantiVAR_072998 | 70 | N → I in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_072999 | 73 | S → L in CDLS1; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_073000 | 111 | S → T in CDLS1; no effect on interaction with SCC4. 1 Publication | 1 | |
Natural variantiVAR_019518 | 135 | S → N. Corresponds to variant dbSNP:rs1390490298Ensembl. | 1 | |
Natural variantiVAR_073001 | 179 | A → S in CDLS1; no effect on interaction with SCC4. 2 Publications | 1 | |
Natural variantiVAR_073002 | 179 | A → T in CDLS1; benign variant; no effect on interaction with SCC4. 1 PublicationCorresponds to variant dbSNP:rs142923613EnsemblClinVar. | 1 | |
Natural variantiVAR_073003 | 192 | P → L in CDLS1; no effect on interaction with SCC4. 1 Publication | 1 | |
Natural variantiVAR_073004 | 246 | D → G in CDLS1; no effect on interaction with SCC4. 2 PublicationsCorresponds to variant dbSNP:rs587784042EnsemblClinVar. | 1 | |
Natural variantiVAR_073005 | 254 | L → V in CDLS1; no effect on interaction with SCC4. 1 Publication | 1 | |
Natural variantiVAR_038411 | 261 | S → A. Corresponds to variant dbSNP:rs16903425EnsemblClinVar. | 1 | |
Natural variantiVAR_073006 | 351 | P → T in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_073007 | 357 | K → N in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_038412 | 384 | N → S. Corresponds to variant dbSNP:rs2291703EnsemblClinVar. | 1 | |
Natural variantiVAR_021596 | 674 | N → S1 PublicationCorresponds to variant dbSNP:rs3822471EnsemblClinVar. | 1 | |
Natural variantiVAR_073008 | 868 | R → Q in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs149629686EnsemblClinVar. | 1 | |
Natural variantiVAR_021597 | 1206 | I → V1 PublicationCorresponds to variant dbSNP:rs587783929EnsemblClinVar. | 1 | |
Natural variantiVAR_038413 | 1206 | Missing in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_073009 | 1207 | E → K in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_021598 | 1246 | A → G in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs121918268EnsemblClinVar. | 1 | |
Natural variantiVAR_019519 | 1311 | C → R in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_021599 | 1312 | L → P in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_073010 | 1343 | H → P in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_019520 | 1348 | L → R in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_073011 | 1441 | V → L in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs727503769EnsemblClinVar. | 1 | |
Natural variantiVAR_073012 | 1625 | V → F in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_073013 | 1637 | I → L in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_036164 | 1647 | E → K in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_073014 | 1722 | N → H in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_021600 | 1789 | R → L in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_021601 | 1803 | D → V in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_021602 | 1856 | R → T in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_064544 | 1897 | Missing in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_064545 | 2081 | G → A in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs587784000EnsemblClinVar. | 1 | |
Natural variantiVAR_064546 | 2090 | S → I in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_073015 | 2091 | C → F in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_064547 | 2150 | L → P in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_073016 | 2218 | Missing in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_021603 | 2298 | R → C in CDLS1. 2 PublicationsCorresponds to variant dbSNP:rs80358376EnsemblClinVar. | 1 | |
Natural variantiVAR_021604 | 2298 | R → H in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs587784024EnsemblClinVar. | 1 | |
Natural variantiVAR_021605 | 2312 | G → R in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_073017 | 2312 | G → V in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs587784025EnsemblClinVar. | 1 | |
Natural variantiVAR_021606 | 2381 | G → A in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_021607 | 2390 | A → T in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs587784036EnsemblClinVar. | 1 | |
Natural variantiVAR_019521 | 2430 | Y → C in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs121918265EnsemblClinVar. | 1 | |
Natural variantiVAR_073018 | 2433 | D → N in CDLS1. 1 Publication | 1 | |
Natural variantiVAR_021608 | 2440 | Y → H in CDLS1. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_011091 | 1102 – 2804 | Missing in isoform 3. 1 PublicationAdd BLAST | 1703 | |
Alternative sequenceiVSP_011092 | 2684 – 2697 | SLRRS…DSTEL → VRRRRSQRISQRIT in isoform 2. 3 PublicationsAdd BLAST | 14 | |
Alternative sequenceiVSP_011093 | 2698 – 2804 | Missing in isoform 2. 3 PublicationsAdd BLAST | 107 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ627032 mRNA Translation: CAF25290.1 AJ640137 mRNA Translation: CAG26691.1 BX538177 mRNA Translation: CAD98051.1 BX538178 mRNA Translation: CAD98052.1 BX640644 mRNA Translation: CAE45790.1 Frameshift. AK126804 mRNA Translation: BAC86701.1 Different initiation. AB019494 mRNA Translation: BAA77335.1 Sequence problems. AB019602 mRNA Translation: BAA77349.1 Sequence problems. BC033847 mRNA Translation: AAH33847.1 Different initiation. |
CCDSi | CCDS3920.1 [Q6KC79-1] CCDS47198.1 [Q6KC79-2] |
RefSeqi | NP_056199.2, NM_015384.4 [Q6KC79-2] NP_597677.2, NM_133433.3 [Q6KC79-1] XP_016864819.1, XM_017009330.1 |
Genome annotation databases
Ensembli | ENST00000282516; ENSP00000282516; ENSG00000164190 [Q6KC79-1] ENST00000448238; ENSP00000406266; ENSG00000164190 [Q6KC79-2] |
GeneIDi | 25836 |
KEGGi | hsa:25836 |
UCSCi | uc003jkk.5, human [Q6KC79-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ627032 mRNA Translation: CAF25290.1 AJ640137 mRNA Translation: CAG26691.1 BX538177 mRNA Translation: CAD98051.1 BX538178 mRNA Translation: CAD98052.1 BX640644 mRNA Translation: CAE45790.1 Frameshift. AK126804 mRNA Translation: BAC86701.1 Different initiation. AB019494 mRNA Translation: BAA77335.1 Sequence problems. AB019602 mRNA Translation: BAA77349.1 Sequence problems. BC033847 mRNA Translation: AAH33847.1 Different initiation. |
CCDSi | CCDS3920.1 [Q6KC79-1] CCDS47198.1 [Q6KC79-2] |
RefSeqi | NP_056199.2, NM_015384.4 [Q6KC79-2] NP_597677.2, NM_133433.3 [Q6KC79-1] XP_016864819.1, XM_017009330.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6WG3 | electron microscopy | 5.30 | E | 1163-2804 | [»] | |
6WGE | electron microscopy | 3.90 | E | 1163-2804 | [»] | |
SMRi | Q6KC79 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 117363, 58 interactors |
DIPi | DIP-29199N |
IntActi | Q6KC79, 21 interactors |
MINTi | Q6KC79 |
STRINGi | 9606.ENSP00000282516 |
PTM databases
iPTMneti | Q6KC79 |
PhosphoSitePlusi | Q6KC79 |
Polymorphism and mutation databases
BioMutai | NIPBL |
DMDMi | 50400865 |
Proteomic databases
EPDi | Q6KC79 |
jPOSTi | Q6KC79 |
MassIVEi | Q6KC79 |
MaxQBi | Q6KC79 |
PaxDbi | Q6KC79 |
PeptideAtlasi | Q6KC79 |
PRIDEi | Q6KC79 |
ProteomicsDBi | 66538 [Q6KC79-1] 66539 [Q6KC79-2] 66540 [Q6KC79-3] |
Protocols and materials databases
Antibodypediai | 10283, 174 antibodies |
Genome annotation databases
Ensembli | ENST00000282516; ENSP00000282516; ENSG00000164190 [Q6KC79-1] ENST00000448238; ENSP00000406266; ENSG00000164190 [Q6KC79-2] |
GeneIDi | 25836 |
KEGGi | hsa:25836 |
UCSCi | uc003jkk.5, human [Q6KC79-1] |
Organism-specific databases
CTDi | 25836 |
DisGeNETi | 25836 |
EuPathDBi | HostDB:ENSG00000164190.16 |
GeneCardsi | NIPBL |
GeneReviewsi | NIPBL |
HGNCi | HGNC:28862, NIPBL |
HPAi | ENSG00000164190, Low tissue specificity |
MalaCardsi | NIPBL |
MIMi | 122470, phenotype 608667, gene |
neXtProti | NX_Q6KC79 |
OpenTargetsi | ENSG00000164190 |
Orphaneti | 329802, 5p13 microduplication syndrome 199, Cornelia de Lange syndrome |
PharmGKBi | PA134962343 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1020, Eukaryota |
GeneTreei | ENSGT00390000010427 |
HOGENOMi | CLU_000763_0_0_1 |
InParanoidi | Q6KC79 |
OMAi | ITPQDIN |
OrthoDBi | 7137at2759 |
PhylomeDBi | Q6KC79 |
TreeFami | TF313121 |
Enzyme and pathway databases
PathwayCommonsi | Q6KC79 |
Reactomei | R-HSA-2470946, Cohesin Loading onto Chromatin |
Miscellaneous databases
BioGRID-ORCSi | 25836, 246 hits in 849 CRISPR screens |
ChiTaRSi | NIPBL, human |
GeneWikii | NIPBL |
GenomeRNAii | 25836 |
Pharosi | Q6KC79, Tbio |
PROi | PR:Q6KC79 |
RNActi | Q6KC79, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000164190, Expressed in ventricular zone and 232 other tissues |
ExpressionAtlasi | Q6KC79, baseline and differential |
Genevisiblei | Q6KC79, HS |
Family and domain databases
Gene3Di | 1.25.10.10, 1 hit |
InterProi | View protein in InterPro IPR011989, ARM-like IPR016024, ARM-type_fold IPR026003, Cohesin_HEAT IPR024986, Nipped-B_C IPR033031, SCC2/Nipped-B |
PANTHERi | PTHR21704, PTHR21704, 2 hits |
Pfami | View protein in Pfam PF12765, Cohesin_HEAT, 1 hit PF12830, Nipped-B_C, 1 hit |
SUPFAMi | SSF48371, SSF48371, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | NIPBL_HUMAN | |
Accessioni | Q6KC79Primary (citable) accession number: Q6KC79 Secondary accession number(s): Q6KCD6 Q9Y6Y4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 19, 2004 |
Last sequence update: | July 19, 2004 | |
Last modified: | December 2, 2020 | |
This is version 176 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations