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UniProtKB - Q6KC79 (NIPBL_HUMAN)

Protein

Nipped-B-like protein

Gene

NIPBL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with MAU2/SCC4 which mediates the loading of the cohesin complex onto chromatin (PubMed:22628566, PubMed:28914604). Plays a role in cohesin loading at sites of DNA damage. Its recruitement to double-strand breaks (DSBs) sites occurs in a CBX3-, RNF8- and RNF168-dependent manner whereas its recruitement to UV irradiation-induced DNA damage sites occurs in a ATM-, ATR-, RNF8- and RNF168-dependent manner (PubMed:28167679). Along with ZNF609, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others (By similarity).By similarity3 Publications

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
  • protein C-terminus binding Source: UniProtKB
  • protein N-terminus binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionActivator, Developmental protein
Biological processCell cycle, Transcription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-2470946 Cohesin Loading onto Chromatin

Names & Taxonomyi

Protein namesi
Recommended name:
Nipped-B-like protein
Alternative name(s):
Delangin
SCC2 homolog
Gene namesi
Name:NIPBL
Synonyms:IDN3, SCC21 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000164190.16
HGNCiHGNC:28862 NIPBL
MIMi608667 gene
neXtProtiNX_Q6KC79

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Chromosome, Nucleus

Pathology & Biotechi

Involvement in diseasei

Cornelia de Lange syndrome 1 (CDLS1)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies.
See also OMIM:122470
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07299615G → R in CDLS1; strongly inhibits interaction with SCC4. 2 Publications1
Natural variantiVAR_07299729P → Q in CDLS1; strongly inhibits interaction with SCC4. 1 Publication1
Natural variantiVAR_07299870N → I in CDLS1. 1 Publication1
Natural variantiVAR_07299973S → L in CDLS1; unknown pathological significance. 1 Publication1
Natural variantiVAR_073000111S → T in CDLS1; no effect on interaction with SCC4. 1 Publication1
Natural variantiVAR_073001179A → S in CDLS1; no effect on interaction with SCC4. 2 Publications1
Natural variantiVAR_073002179A → T in CDLS1; no effect on interaction with SCC4. 1 PublicationCorresponds to variant dbSNP:rs142923613EnsemblClinVar.1
Natural variantiVAR_073003192P → L in CDLS1; no effect on interaction with SCC4. 1 Publication1
Natural variantiVAR_073004246D → G in CDLS1; no effect on interaction with SCC4. 2 PublicationsCorresponds to variant dbSNP:rs587784042EnsemblClinVar.1
Natural variantiVAR_073005254L → V in CDLS1; no effect on interaction with SCC4. 1 Publication1
Natural variantiVAR_073006351P → T in CDLS1. 1 Publication1
Natural variantiVAR_073007357K → N in CDLS1. 1 Publication1
Natural variantiVAR_073008868R → Q in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs149629686EnsemblClinVar.1
Natural variantiVAR_0384131206Missing in CDLS1. 1 Publication1
Natural variantiVAR_0730091207E → K in CDLS1. 1 Publication1
Natural variantiVAR_0215981246A → G in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs121918268EnsemblClinVar.1
Natural variantiVAR_0195191311C → R in CDLS1. 1 Publication1
Natural variantiVAR_0215991312L → P in CDLS1. 1 Publication1
Natural variantiVAR_0730101343H → P in CDLS1. 1 Publication1
Natural variantiVAR_0195201348L → R in CDLS1. 1 Publication1
Natural variantiVAR_0730111441V → L in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs727503769EnsemblClinVar.1
Natural variantiVAR_0730121625V → F in CDLS1. 1 Publication1
Natural variantiVAR_0730131637I → L in CDLS1. 1 Publication1
Natural variantiVAR_0730141722N → H in CDLS1. 1 Publication1
Natural variantiVAR_0216001789R → L in CDLS1. 1 Publication1
Natural variantiVAR_0216011803D → V in CDLS1. 1 Publication1
Natural variantiVAR_0216021856R → T in CDLS1. 1 Publication1
Natural variantiVAR_0645441897Missing in CDLS1. 1 Publication1
Natural variantiVAR_0645452081G → A in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs587784000EnsemblClinVar.1
Natural variantiVAR_0645462090S → I in CDLS1. 1 Publication1
Natural variantiVAR_0730152091C → F in CDLS1. 1 Publication1
Natural variantiVAR_0645472150L → P in CDLS1. 1 Publication1
Natural variantiVAR_0730162218Missing in CDLS1. 1 Publication1
Natural variantiVAR_0216032298R → C in CDLS1. 2 PublicationsCorresponds to variant dbSNP:rs80358376EnsemblClinVar.1
Natural variantiVAR_0216042298R → H in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs587784024EnsemblClinVar.1
Natural variantiVAR_0216052312G → R in CDLS1. 1 Publication1
Natural variantiVAR_0730172312G → V in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs587784025EnsemblClinVar.1
Natural variantiVAR_0216062381G → A in CDLS1. 1 Publication1
Natural variantiVAR_0216072390A → T in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs587784036EnsemblClinVar.1
Natural variantiVAR_0195212430Y → C in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs121918265EnsemblClinVar.1
Natural variantiVAR_0730182433D → N in CDLS1. 1 Publication1
Natural variantiVAR_0216082440Y → H in CDLS1. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi1003V → A: Abolishes interaction with CBX3; when associated with A-1005. 2 Publications1
Mutagenesisi1003V → E: Abolishes interaction with CBX5; when associated with E-1005. 1 Publication1
Mutagenesisi1005L → A: Abolishes interaction with CBX3; when associated with A-1003. 1 Publication1
Mutagenesisi1005L → E: Abolishes interaction with CBX5; when associated with E-1003. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi25836
GeneReviewsiNIPBL
MalaCardsiNIPBL
MIMi122470 phenotype
OpenTargetsiENSG00000164190
Orphaneti329802 5p13 microduplication syndrome
199 Cornelia de Lange syndrome
PharmGKBiPA134962343

Polymorphism and mutation databases

BioMutaiNIPBL
DMDMi50400865

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002185961 – 2804Nipped-B-like proteinAdd BLAST2804

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei150PhosphoserineCombined sources1
Modified residuei162PhosphoserineCombined sources1
Modified residuei243PhosphoserineCombined sources1
Modified residuei256PhosphoserineCombined sources1
Modified residuei274PhosphoserineCombined sources1
Modified residuei280PhosphoserineCombined sources1
Modified residuei284PhosphoserineBy similarity1
Modified residuei301PhosphoserineBy similarity1
Modified residuei306PhosphoserineCombined sources1
Modified residuei318PhosphoserineCombined sources1
Modified residuei350PhosphoserineCombined sources1
Modified residuei713PhosphothreonineCombined sources1
Modified residuei746PhosphothreonineCombined sources1
Modified residuei912PhosphoserineCombined sources1
Modified residuei1082N6-acetyllysineBy similarity1
Modified residuei1089PhosphoserineCombined sources1
Modified residuei1090PhosphoserineCombined sources1
Modified residuei1096PhosphoserineCombined sources1
Modified residuei1150PhosphoserineCombined sources1
Modified residuei1152PhosphoserineCombined sources1
Modified residuei1154PhosphoserineCombined sources1
Modified residuei1159PhosphotyrosineBy similarity1
Modified residuei1160PhosphoserineCombined sources1
Modified residuei1189PhosphothreonineCombined sources1
Modified residuei1197PhosphoserineCombined sources1
Modified residuei2493PhosphoserineBy similarity1
Modified residuei2509PhosphoserineCombined sources1
Modified residuei2511PhosphoserineCombined sources1
Modified residuei2513PhosphoserineCombined sources1
Modified residuei2515PhosphoserineCombined sources1
Modified residuei2652PhosphoserineCombined sources1
Modified residuei2658PhosphoserineCombined sources1
Modified residuei2667PhosphothreonineCombined sources1
Modified residuei2672PhosphoserineCombined sources1
Isoform 2 (identifier: Q6KC79-2)
Modified residuei2667PhosphothreonineCombined sources1
Modified residuei2672PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ6KC79
MaxQBiQ6KC79
PaxDbiQ6KC79
PeptideAtlasiQ6KC79
PRIDEiQ6KC79
ProteomicsDBi66538
66539 [Q6KC79-2]
66540 [Q6KC79-3]

PTM databases

iPTMnetiQ6KC79
PhosphoSitePlusiQ6KC79

Expressioni

Tissue specificityi

Widely expressed. Highly expressed in heart, skeletal muscle, fetal and adult liver, fetal and adult kidney. Expressed at intermediates level in thymus, placenta, peripheral leukocyte and small intestine. Weakly or not expressed in brain, colon, spleen and lung.2 Publications

Developmental stagei

In embryos, it is expressed in developing limbs and later in cartilage primordia of the ulna and of various hand bones. Sites of craniofacial expression include the cartilage primordium of the basioccipital and basisphenoid skull bones and elsewhere in the head and face, including a region encompassing the mesenchyme adjacent to the cochlear canal. Also expressed in the spinal column, notochord and surface ectoderm sclerotome and what seem to be migrating myoblasts. Expressed in the developing heart in the atrial and ventricular myocardium and in the ventricular tubeculae but absent in the endocardial cushions. Also expressed in the developing esophagus, trachea and midgut loops, in the bronchi of the lung and in the tubules of the metanephros. Expression in organs and tissues not typically affected in CDL (e.g. the developing trachea, bronchi, esophagus, heart and kidney) may reflect a bias towards underreporting of more subtle aspects of the phenotype or problems that typically present later in life. Expressed in the mesenchyme surrounding the cochlear canal possibly reflecting the hearing impairment commonly found. Weakly or not expressed in embryonic brain.1 Publication

Gene expression databases

BgeeiENSG00000164190 Expressed in 222 organ(s), highest expression level in corpus callosum
CleanExiHS_NIPBL
ExpressionAtlasiQ6KC79 baseline and differential
GenevisibleiQ6KC79 HS

Organism-specific databases

HPAiHPA040834
HPA058239

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 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
MAU2Q9Y6X37EBI-722767,EBI-4395624

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi117363, 42 interactors
DIPiDIP-29199N
IntActiQ6KC79, 17 interactors
MINTiQ6KC79
STRINGi9606.ENSP00000282516

Structurei

3D structure databases

ProteinModelPortaliQ6KC79
SMRiQ6KC79
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati1767 – 1805HEAT 1Add BLAST39
Repeati1843 – 1881HEAT 2Add BLAST39
Repeati1945 – 1984HEAT 3Add BLAST40
Repeati2227 – 2267HEAT 4Add BLAST41
Repeati2313 – 2351HEAT 5Add BLAST39

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi996 – 1009PxVxL motif2 PublicationsAdd BLAST14

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi418 – 462Gln-richAdd BLAST45

Domaini

Contains one Pro-Xaa-Val-Xaa-Leu (PxVxL) motif, which is required for interaction with chromoshadow domains. This motif requires additional residues -7, -6, +4 and +5 of the central Val which contact the chromoshadow domain.2 Publications
The C-terminal region containing HEAT repeats and Pro-Xaa-Val-Xaa-Leu (PxVxL) motif are involved in the recruitment of NIPBL to sites of DNA damage.1 Publication

Sequence similaritiesi

Belongs to the SCC2/Nipped-B family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG1020 Eukaryota
ENOG410XP32 LUCA
GeneTreeiENSGT00390000010427
HOVERGENiHBG052626
InParanoidiQ6KC79
KOiK06672
OMAiPKQKGEG
OrthoDBiEOG091G00DH
PhylomeDBiQ6KC79
TreeFamiTF313121

Family and domain databases

Gene3Di1.25.10.10, 1 hit
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR026003 Cohesin_HEAT
IPR024986 Nipped-B_C
IPR033031 SCC2/Nipped-B
PANTHERiPTHR21704 PTHR21704, 2 hits
PfamiView protein in Pfam
PF12765 Cohesin_HEAT, 1 hit
PF12830 Nipped-B_C, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6KC79-1) [UniParc]FASTAAdd to basket
Also known as: A, IDN3-A

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:2,804
Mass (Da):316,051
Last modified:July 19, 2004 - v2
Checksum:iC275425DF53058A3
GO
Isoform 2 (identifier: Q6KC79-2) [UniParc]FASTAAdd to basket
Also known as: B, IDN3-B

The sequence of this isoform differs from the canonical sequence as follows:
     2684-2697: SLRRSKRNSDSTEL → VRRRRSQRISQRIT
     2698-2804: Missing.

Show »
Length:2,697
Mass (Da):304,344
Checksum:i42207C9622A3C01D
GO
Isoform 3 (identifier: Q6KC79-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1102-2804: Missing.

Note: No experimental confirmation available.
Show »
Length:1,101
Mass (Da):122,367
Checksum:i0344321AFFE6ACFA
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y8M3H0Y8M3_HUMAN
Nipped-B-like protein
NIPBL
150Annotation score:

Sequence cautioni

The sequence AAH33847 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA77335 differs from that shown. Chimeric cDNA.Curated
The sequence BAA77349 differs from that shown. Chimeric cDNA.Curated
The sequence BAC86701 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAE45790 differs from that shown. Reason: Frameshift at position 278.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti318S → F (PubMed:14702039).Curated1
Sequence conflicti548A → T in CAD98051 (PubMed:17974005).Curated1
Sequence conflicti548A → T in CAD98052 (PubMed:17974005).Curated1
Sequence conflicti574N → S in CAD98051 (PubMed:17974005).Curated1
Sequence conflicti574N → S in CAD98052 (PubMed:17974005).Curated1
Sequence conflicti648T → I in CAD98051 (PubMed:17974005).Curated1
Sequence conflicti648T → I in CAD98052 (PubMed:17974005).Curated1
Sequence conflicti1172M → K in CAD98051 (PubMed:17974005).Curated1
Sequence conflicti1172M → K in CAD98052 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07299615G → R in CDLS1; strongly inhibits interaction with SCC4. 2 Publications1
Natural variantiVAR_07299729P → Q in CDLS1; strongly inhibits interaction with SCC4. 1 Publication1
Natural variantiVAR_07299870N → I in CDLS1. 1 Publication1
Natural variantiVAR_07299973S → L in CDLS1; unknown pathological significance. 1 Publication1
Natural variantiVAR_073000111S → T in CDLS1; no effect on interaction with SCC4. 1 Publication1
Natural variantiVAR_019518135S → N. Corresponds to variant dbSNP:rs3822471EnsemblClinVar.1
Natural variantiVAR_073001179A → S in CDLS1; no effect on interaction with SCC4. 2 Publications1
Natural variantiVAR_073002179A → T in CDLS1; no effect on interaction with SCC4. 1 PublicationCorresponds to variant dbSNP:rs142923613EnsemblClinVar.1
Natural variantiVAR_073003192P → L in CDLS1; no effect on interaction with SCC4. 1 Publication1
Natural variantiVAR_073004246D → G in CDLS1; no effect on interaction with SCC4. 2 PublicationsCorresponds to variant dbSNP:rs587784042EnsemblClinVar.1
Natural variantiVAR_073005254L → V in CDLS1; no effect on interaction with SCC4. 1 Publication1
Natural variantiVAR_038411261S → A. Corresponds to variant dbSNP:rs16903425EnsemblClinVar.1
Natural variantiVAR_073006351P → T in CDLS1. 1 Publication1
Natural variantiVAR_073007357K → N in CDLS1. 1 Publication1
Natural variantiVAR_038412384N → S. Corresponds to variant dbSNP:rs2291703EnsemblClinVar.1
Natural variantiVAR_021596674N → S1 PublicationCorresponds to variant dbSNP:rs3822471EnsemblClinVar.1
Natural variantiVAR_073008868R → Q in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs149629686EnsemblClinVar.1
Natural variantiVAR_0215971206I → V1 PublicationCorresponds to variant dbSNP:rs587783929EnsemblClinVar.1
Natural variantiVAR_0384131206Missing in CDLS1. 1 Publication1
Natural variantiVAR_0730091207E → K in CDLS1. 1 Publication1
Natural variantiVAR_0215981246A → G in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs121918268EnsemblClinVar.1
Natural variantiVAR_0195191311C → R in CDLS1. 1 Publication1
Natural variantiVAR_0215991312L → P in CDLS1. 1 Publication1
Natural variantiVAR_0730101343H → P in CDLS1. 1 Publication1
Natural variantiVAR_0195201348L → R in CDLS1. 1 Publication1
Natural variantiVAR_0730111441V → L in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs727503769EnsemblClinVar.1
Natural variantiVAR_0730121625V → F in CDLS1. 1 Publication1
Natural variantiVAR_0730131637I → L in CDLS1. 1 Publication1
Natural variantiVAR_0361641647E → K in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0730141722N → H in CDLS1. 1 Publication1
Natural variantiVAR_0216001789R → L in CDLS1. 1 Publication1
Natural variantiVAR_0216011803D → V in CDLS1. 1 Publication1
Natural variantiVAR_0216021856R → T in CDLS1. 1 Publication1
Natural variantiVAR_0645441897Missing in CDLS1. 1 Publication1
Natural variantiVAR_0645452081G → A in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs587784000EnsemblClinVar.1
Natural variantiVAR_0645462090S → I in CDLS1. 1 Publication1
Natural variantiVAR_0730152091C → F in CDLS1. 1 Publication1
Natural variantiVAR_0645472150L → P in CDLS1. 1 Publication1
Natural variantiVAR_0730162218Missing in CDLS1. 1 Publication1
Natural variantiVAR_0216032298R → C in CDLS1. 2 PublicationsCorresponds to variant dbSNP:rs80358376EnsemblClinVar.1
Natural variantiVAR_0216042298R → H in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs587784024EnsemblClinVar.1
Natural variantiVAR_0216052312G → R in CDLS1. 1 Publication1
Natural variantiVAR_0730172312G → V in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs587784025EnsemblClinVar.1
Natural variantiVAR_0216062381G → A in CDLS1. 1 Publication1
Natural variantiVAR_0216072390A → T in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs587784036EnsemblClinVar.1
Natural variantiVAR_0195212430Y → C in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs121918265EnsemblClinVar.1
Natural variantiVAR_0730182433D → N in CDLS1. 1 Publication1
Natural variantiVAR_0216082440Y → H in CDLS1. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0110911102 – 2804Missing in isoform 3. 1 PublicationAdd BLAST1703
Alternative sequenceiVSP_0110922684 – 2697SLRRS…DSTEL → VRRRRSQRISQRIT in isoform 2. 3 PublicationsAdd BLAST14
Alternative sequenceiVSP_0110932698 – 2804Missing in isoform 2. 3 PublicationsAdd BLAST107

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.
CCDSiCCDS3920.1 [Q6KC79-1]
CCDS47198.1 [Q6KC79-2]
RefSeqiNP_056199.2, NM_015384.4 [Q6KC79-2]
NP_597677.2, NM_133433.3 [Q6KC79-1]
XP_016864819.1, XM_017009330.1
UniGeneiHs.481927

Genome annotation databases

EnsembliENST00000282516; ENSP00000282516; ENSG00000164190 [Q6KC79-1]
ENST00000448238; ENSP00000406266; ENSG00000164190 [Q6KC79-2]
GeneIDi25836
KEGGihsa:25836
UCSCiuc003jkk.5 human [Q6KC79-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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.
CCDSiCCDS3920.1 [Q6KC79-1]
CCDS47198.1 [Q6KC79-2]
RefSeqiNP_056199.2, NM_015384.4 [Q6KC79-2]
NP_597677.2, NM_133433.3 [Q6KC79-1]
XP_016864819.1, XM_017009330.1
UniGeneiHs.481927

3D structure databases

ProteinModelPortaliQ6KC79
SMRiQ6KC79
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117363, 42 interactors
DIPiDIP-29199N
IntActiQ6KC79, 17 interactors
MINTiQ6KC79
STRINGi9606.ENSP00000282516

PTM databases

iPTMnetiQ6KC79
PhosphoSitePlusiQ6KC79

Polymorphism and mutation databases

BioMutaiNIPBL
DMDMi50400865

Proteomic databases

EPDiQ6KC79
MaxQBiQ6KC79
PaxDbiQ6KC79
PeptideAtlasiQ6KC79
PRIDEiQ6KC79
ProteomicsDBi66538
66539 [Q6KC79-2]
66540 [Q6KC79-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000282516; ENSP00000282516; ENSG00000164190 [Q6KC79-1]
ENST00000448238; ENSP00000406266; ENSG00000164190 [Q6KC79-2]
GeneIDi25836
KEGGihsa:25836
UCSCiuc003jkk.5 human [Q6KC79-1]

Organism-specific databases

CTDi25836
DisGeNETi25836
EuPathDBiHostDB:ENSG00000164190.16
GeneCardsiNIPBL
GeneReviewsiNIPBL
HGNCiHGNC:28862 NIPBL
HPAiHPA040834
HPA058239
MalaCardsiNIPBL
MIMi122470 phenotype
608667 gene
neXtProtiNX_Q6KC79
OpenTargetsiENSG00000164190
Orphaneti329802 5p13 microduplication syndrome
199 Cornelia de Lange syndrome
PharmGKBiPA134962343
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1020 Eukaryota
ENOG410XP32 LUCA
GeneTreeiENSGT00390000010427
HOVERGENiHBG052626
InParanoidiQ6KC79
KOiK06672
OMAiPKQKGEG
OrthoDBiEOG091G00DH
PhylomeDBiQ6KC79
TreeFamiTF313121

Enzyme and pathway databases

ReactomeiR-HSA-2470946 Cohesin Loading onto Chromatin

Miscellaneous databases

ChiTaRSiNIPBL human
GeneWikiiNIPBL
GenomeRNAii25836
PROiPR:Q6KC79
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164190 Expressed in 222 organ(s), highest expression level in corpus callosum
CleanExiHS_NIPBL
ExpressionAtlasiQ6KC79 baseline and differential
GenevisibleiQ6KC79 HS

Family and domain databases

Gene3Di1.25.10.10, 1 hit
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR026003 Cohesin_HEAT
IPR024986 Nipped-B_C
IPR033031 SCC2/Nipped-B
PANTHERiPTHR21704 PTHR21704, 2 hits
PfamiView protein in Pfam
PF12765 Cohesin_HEAT, 1 hit
PF12830 Nipped-B_C, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiNIPBL_HUMAN
AccessioniPrimary (citable) accession number: Q6KC79
Secondary accession number(s): Q6KCD6
, Q6N080, Q6ZT92, Q7Z2E6, Q8N4M5, Q9Y6Y3, Q9Y6Y4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: July 19, 2004
Last modified: November 7, 2018
This is version 159 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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