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Protein

Nipped-B-like protein

Gene

NIPBL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Probably plays a structural role in chromatin. Involved in sister chromatid cohesion, possibly by interacting with the cohesin complex (By similarity).By similarity

GO - Molecular functioni

  • chromatin binding Source: Ensembl
  • 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

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
  • developmental growth Source: BHF-UCL
  • ear morphogenesis Source: BHF-UCL
  • embryonic digestive tract morphogenesis Source: BHF-UCL
  • embryonic forelimb morphogenesis Source: BHF-UCL
  • embryonic viscerocranium morphogenesis Source: Ensembl
  • 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 sister chromatid cohesion Source: UniProtKB
  • negative regulation of transcription, DNA-templated Source: BHF-UCL
  • negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  • outflow tract morphogenesis Source: BHF-UCL
  • positive regulation of histone deacetylation Source: BHF-UCL
  • positive regulation of multicellular organism growth Source: Ensembl
  • positive regulation of ossification Source: Ensembl
  • positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  • regulation of developmental growth Source: BHF-UCL
  • regulation of embryonic development Source: BHF-UCL
  • regulation of hair cycle Source: BHF-UCL
  • sensory perception of sound Source: BHF-UCL
  • stem cell population maintenance Source: Ensembl
  • uterus morphogenesis Source: BHF-UCL
Complete GO annotation...

Keywords - Biological processi

Cell cycle

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:28862. NIPBL.

Subcellular locationi

GO - Cellular componenti

  • chromatin Source: Ensembl
  • extracellular exosome Source: UniProtKB
  • nucleoplasm Source: Reactome
  • nucleus Source: UniProtKB
  • SMC loading complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Cornelia de Lange syndrome 1 (CDLS1)8 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. 1 Publication1
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 rs142923613dbSNPEnsembl.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 rs587784042dbSNPEnsembl.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 rs149629686dbSNPEnsembl.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 rs121918268dbSNPEnsembl.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 rs727503769dbSNPEnsembl.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 Publication1
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 rs80358376dbSNPEnsembl.1
Natural variantiVAR_0216042298R → H in CDLS1. 1 PublicationCorresponds to variant rs587784024dbSNPEnsembl.1
Natural variantiVAR_0216052312G → R in CDLS1. 1 Publication1
Natural variantiVAR_0730172312G → V in CDLS1. 1 PublicationCorresponds to variant rs587784025dbSNPEnsembl.1
Natural variantiVAR_0216062381G → A in CDLS1. 1 Publication1
Natural variantiVAR_0216072390A → T in CDLS1. 1 PublicationCorresponds to variant rs587784036dbSNPEnsembl.1
Natural variantiVAR_0195212430Y → C in CDLS1. 1 PublicationCorresponds to variant rs121918265dbSNPEnsembl.1
Natural variantiVAR_0730182433D → N in CDLS1. 1 Publication1
Natural variantiVAR_0216082440Y → H in CDLS1. 1 Publication1

Mutagenesis

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

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi25836.
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.

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.
CleanExiHS_NIPBL.
ExpressionAtlasiQ6KC79. baseline and differential.
GenevisibleiQ6KC79. HS.

Organism-specific databases

HPAiHPA040834.
HPA058239.

Interactioni

Subunit structurei

Interacts directly with CBX5 via the PxVxL motif. Interacts with SCC4 (via N-terminus) to form the cohesin loading complex (PubMed:16802858, PubMed:16682347, PubMed:21934712).5 Publications

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

BioGridi117363. 38 interactors.
DIPiDIP-29199N.
IntActiQ6KC79. 16 interactors.
MINTiMINT-4103787.
STRINGi9606.ENSP00000282516.

Structurei

3D structure databases

ProteinModelPortaliQ6KC79.
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 motifAdd 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.

Sequence similaritiesi

Belongs to the SCC2/Nipped-B family.Curated
Contains 5 HEAT repeats.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. 3 hits.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR026003. Cohesin_HEAT.
IPR024986. Nipped-B_C.
IPR033031. SCC2/Nipped-B.
[Graphical view]
PANTHERiPTHR21704. PTHR21704. 2 hits.
PfamiPF12765. Cohesin_HEAT. 1 hit.
PF12830. Nipped-B_C. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 3 hits.

Sequences (3)i

Sequence statusi: Complete.

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

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

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. 1 Publication1
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 rs3822471dbSNPEnsembl.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 rs142923613dbSNPEnsembl.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 rs587784042dbSNPEnsembl.1
Natural variantiVAR_073005254L → V in CDLS1; no effect on interaction with SCC4. 1 Publication1
Natural variantiVAR_038411261S → A.Corresponds to variant rs16903425dbSNPEnsembl.1
Natural variantiVAR_073006351P → T in CDLS1. 1 Publication1
Natural variantiVAR_073007357K → N in CDLS1. 1 Publication1
Natural variantiVAR_038412384N → S.Corresponds to variant rs2291703dbSNPEnsembl.1
Natural variantiVAR_021596674N → S.1 PublicationCorresponds to variant rs3822471dbSNPEnsembl.1
Natural variantiVAR_073008868R → Q in CDLS1. 1 PublicationCorresponds to variant rs149629686dbSNPEnsembl.1
Natural variantiVAR_0215971206I → V.1 PublicationCorresponds to variant rs587783929dbSNPEnsembl.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 rs121918268dbSNPEnsembl.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 rs727503769dbSNPEnsembl.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 Publication1
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 rs80358376dbSNPEnsembl.1
Natural variantiVAR_0216042298R → H in CDLS1. 1 PublicationCorresponds to variant rs587784024dbSNPEnsembl.1
Natural variantiVAR_0216052312G → R in CDLS1. 1 Publication1
Natural variantiVAR_0730172312G → V in CDLS1. 1 PublicationCorresponds to variant rs587784025dbSNPEnsembl.1
Natural variantiVAR_0216062381G → A in CDLS1. 1 Publication1
Natural variantiVAR_0216072390A → T in CDLS1. 1 PublicationCorresponds to variant rs587784036dbSNPEnsembl.1
Natural variantiVAR_0195212430Y → C in CDLS1. 1 PublicationCorresponds to variant rs121918265dbSNPEnsembl.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

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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117363. 38 interactors.
DIPiDIP-29199N.
IntActiQ6KC79. 16 interactors.
MINTiMINT-4103787.
STRINGi9606.ENSP00000282516.

PTM databases

iPTMnetiQ6KC79.
PhosphoSitePlusiQ6KC79.

Polymorphism and mutation databases

BioMutaiNIPBL.
DMDMi50400865.

Proteomic databases

EPDiQ6KC79.
MaxQBiQ6KC79.
PaxDbiQ6KC79.
PeptideAtlasiQ6KC79.
PRIDEiQ6KC79.

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.
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.
PROiQ6KC79.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164190.
CleanExiHS_NIPBL.
ExpressionAtlasiQ6KC79. baseline and differential.
GenevisibleiQ6KC79. HS.

Family and domain databases

Gene3Di1.25.10.10. 3 hits.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR026003. Cohesin_HEAT.
IPR024986. Nipped-B_C.
IPR033031. SCC2/Nipped-B.
[Graphical view]
PANTHERiPTHR21704. PTHR21704. 2 hits.
PfamiPF12765. Cohesin_HEAT. 1 hit.
PF12830. Nipped-B_C. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 3 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiNIPBL_HUMAN
AccessioniPrimary (citable) accession number: Q6KC79
Secondary accession number(s): Q6KCD6
, Q6N080, Q6ZT92, Q7Z2E6, Q8N4M5, Q9Y6Y3, Q9Y6Y4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: July 19, 2004
Last modified: November 2, 2016
This is version 144 of the entry and version 2 of the sequence. [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. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.