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Q6KC79

- NIPBL_HUMAN

UniProt

Q6KC79 - NIPBL_HUMAN

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Protein

Nipped-B-like protein

Gene

NIPBL

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. chromatin binding Source: Ensembl
  2. chromo shadow domain binding Source: BHF-UCL
  3. histone deacetylase binding Source: BHF-UCL
  4. protein C-terminus binding Source: UniProtKB
  5. protein N-terminus binding Source: UniProtKB

GO - Biological processi

  1. brain development Source: BHF-UCL
  2. cellular protein localization Source: UniProtKB
  3. cellular response to DNA damage stimulus Source: UniProtKB
  4. cellular response to X-ray Source: UniProtKB
  5. cognition Source: BHF-UCL
  6. developmental growth Source: BHF-UCL
  7. ear morphogenesis Source: BHF-UCL
  8. embryonic digestive tract morphogenesis Source: BHF-UCL
  9. embryonic forelimb morphogenesis Source: BHF-UCL
  10. embryonic viscerocranium morphogenesis Source: Ensembl
  11. external genitalia morphogenesis Source: BHF-UCL
  12. eye morphogenesis Source: BHF-UCL
  13. face morphogenesis Source: BHF-UCL
  14. fat cell differentiation Source: Ensembl
  15. forelimb morphogenesis Source: BHF-UCL
  16. gall bladder development Source: BHF-UCL
  17. heart morphogenesis Source: BHF-UCL
  18. maintenance of mitotic sister chromatid cohesion Source: UniProtKB
  19. metanephros development Source: BHF-UCL
  20. mitotic cell cycle Source: Reactome
  21. mitotic sister chromatid cohesion Source: UniProtKB
  22. negative regulation of transcription, DNA-templated Source: BHF-UCL
  23. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  24. outflow tract morphogenesis Source: BHF-UCL
  25. positive regulation of histone deacetylation Source: BHF-UCL
  26. positive regulation of multicellular organism growth Source: Ensembl
  27. positive regulation of ossification Source: Ensembl
  28. regulation of developmental growth Source: BHF-UCL
  29. regulation of embryonic development Source: BHF-UCL
  30. regulation of hair cycle Source: BHF-UCL
  31. sensory perception of sound Source: BHF-UCL
  32. stem cell maintenance Source: Ensembl
  33. uterus morphogenesis Source: BHF-UCL
Complete GO annotation...

Keywords - Biological processi

Cell cycle

Enzyme and pathway databases

ReactomeiREACT_150421. 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
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:28862. NIPBL.

Subcellular locationi

Nucleus By similarity

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProt
  2. nucleoplasm Source: Reactome
  3. nucleus Source: UniProtKB
  4. SMC loading complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]: A 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.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1206 – 12061Missing in CDLS1. 1 Publication
VAR_038413
Natural varianti1246 – 12461A → G in CDLS1. 1 Publication
VAR_021598
Natural varianti1311 – 13111C → R in CDLS1. 1 Publication
VAR_019519
Natural varianti1312 – 13121L → P in CDLS1. 1 Publication
VAR_021599
Natural varianti1348 – 13481L → R in CDLS1. 1 Publication
VAR_019520
Natural varianti1789 – 17891R → L in CDLS1. 1 Publication
VAR_021600
Natural varianti1803 – 18031D → V in CDLS1. 1 Publication
VAR_021601
Natural varianti1856 – 18561R → T in CDLS1. 1 Publication
VAR_021602
Natural varianti1897 – 18971Missing in CDLS1. 1 Publication
VAR_064544
Natural varianti2081 – 20811G → A in CDLS1. 1 Publication
VAR_064545
Natural varianti2090 – 20901S → I in CDLS1. 1 Publication
VAR_064546
Natural varianti2150 – 21501L → P in CDLS1. 1 Publication
VAR_064547
Natural varianti2298 – 22981R → C in CDLS1. 1 Publication
VAR_021603
Natural varianti2298 – 22981R → H in CDLS1. 1 Publication
VAR_021604
Natural varianti2312 – 23121G → R in CDLS1. 1 Publication
VAR_021605
Natural varianti2381 – 23811G → A in CDLS1. 1 Publication
VAR_021606
Natural varianti2390 – 23901A → T in CDLS1. 1 Publication
VAR_021607
Natural varianti2430 – 24301Y → C in CDLS1. 1 Publication
VAR_019521
Natural varianti2440 – 24401Y → H in CDLS1. 1 Publication
VAR_021608

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi1003 – 10031V → E: Abolishes interaction with CBX5; when associated with Glu-1005. 1 Publication
Mutagenesisi1005 – 10051L → E: Abolishes interaction with CBX5; when associated with Glu-1003. 1 Publication

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

MIMi122470. phenotype.
Orphaneti329802. 5p13 microduplication syndrome.
199. Cornelia de Lange syndrome.
PharmGKBiPA134962343.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 28042804Nipped-B-like proteinPRO_0000218596Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei150 – 1501Phosphoserine1 Publication
Modified residuei162 – 1621Phosphoserine1 Publication
Modified residuei256 – 2561Phosphoserine1 Publication
Modified residuei280 – 2801PhosphoserineBy similarity
Modified residuei306 – 3061Phosphoserine1 Publication
Modified residuei318 – 3181Phosphoserine2 Publications
Modified residuei350 – 3501Phosphoserine3 Publications
Modified residuei713 – 7131Phosphothreonine1 Publication
Modified residuei746 – 7461Phosphothreonine1 Publication
Modified residuei912 – 9121Phosphoserine1 Publication
Modified residuei1082 – 10821N6-acetyllysineBy similarity
Modified residuei1089 – 10891Phosphoserine2 Publications
Modified residuei1090 – 10901Phosphoserine2 Publications
Modified residuei1096 – 10961Phosphoserine4 Publications
Modified residuei1150 – 11501Phosphoserine3 Publications
Modified residuei1152 – 11521Phosphoserine2 Publications
Modified residuei1154 – 11541Phosphoserine3 Publications
Modified residuei1160 – 11601Phosphoserine3 Publications
Modified residuei2509 – 25091Phosphoserine2 Publications
Modified residuei2511 – 25111Phosphoserine2 Publications
Modified residuei2513 – 25131Phosphoserine2 Publications
Modified residuei2515 – 25151Phosphoserine2 Publications
Modified residuei2658 – 26581Phosphoserine8 Publications
Modified residuei2667 – 26671Phosphothreonine2 Publications
Modified residuei2672 – 26721Phosphoserine2 Publications

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiQ6KC79.
PaxDbiQ6KC79.
PRIDEiQ6KC79.

PTM databases

PhosphoSiteiQ6KC79.

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

BgeeiQ6KC79.
CleanExiHS_NIPBL.
ExpressionAtlasiQ6KC79. baseline and differential.
GenevestigatoriQ6KC79.

Organism-specific databases

HPAiHPA040834.

Interactioni

Subunit structurei

Interacts directly with CBX5 via the PxVxL motif.2 Publications

Protein-protein interaction databases

BioGridi117363. 26 interactions.
DIPiDIP-29199N.
IntActiQ6KC79. 9 interactions.
MINTiMINT-4103787.
STRINGi9606.ENSP00000282516.

Structurei

3D structure databases

ProteinModelPortaliQ6KC79.
SMRiQ6KC79. Positions 1768-1856, 2063-2096, 2173-2201.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati1767 – 180539HEAT 1Add
BLAST
Repeati1843 – 188139HEAT 2Add
BLAST
Repeati1945 – 198440HEAT 3Add
BLAST
Repeati2227 – 226741HEAT 4Add
BLAST
Repeati2313 – 235139HEAT 5Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi996 – 100914PxVxL motifAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi418 – 46245Gln-richAdd
BLAST

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

eggNOGiNOG128278.
GeneTreeiENSGT00390000010427.
HOVERGENiHBG052626.
InParanoidiQ6KC79.
KOiK06672.
OMAiRDICIEQ.
OrthoDBiEOG7CZK4Q.
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.
[Graphical view]
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. Align

Isoform 1 (identifier: Q6KC79) [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.

Note: Contains a phosphothreonine at position 2667. Contains a phosphoserine at position 2672.

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 BAA77335.1 differs from that shown. Reason: Chimeric cDNA.
The sequence BAA77349.1 differs from that shown. Reason: Chimeric cDNA.
The sequence CAE45790.1 differs from that shown. Reason: Frameshift at position 278.
The sequence AAH33847.1 differs from that shown. Reason: Erroneous initiation.
The sequence BAC86701.1 differs from that shown. Reason: Erroneous initiation.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti318 – 3181S → F(PubMed:14702039)Curated
Sequence conflicti548 – 5481A → T in CAD98051. (PubMed:17974005)Curated
Sequence conflicti548 – 5481A → T in CAD98052. (PubMed:17974005)Curated
Sequence conflicti574 – 5741N → S in CAD98051. (PubMed:17974005)Curated
Sequence conflicti574 – 5741N → S in CAD98052. (PubMed:17974005)Curated
Sequence conflicti648 – 6481T → I in CAD98051. (PubMed:17974005)Curated
Sequence conflicti648 – 6481T → I in CAD98052. (PubMed:17974005)Curated
Sequence conflicti1172 – 11721M → K in CAD98051. (PubMed:17974005)Curated
Sequence conflicti1172 – 11721M → K in CAD98052. (PubMed:17974005)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti135 – 1351S → N.
Corresponds to variant rs3822471 [ dbSNP | Ensembl ].
VAR_019518
Natural varianti261 – 2611S → A.
Corresponds to variant rs16903425 [ dbSNP | Ensembl ].
VAR_038411
Natural varianti384 – 3841N → S.
Corresponds to variant rs2291703 [ dbSNP | Ensembl ].
VAR_038412
Natural varianti674 – 6741N → S.1 Publication
Corresponds to variant rs3822471 [ dbSNP | Ensembl ].
VAR_021596
Natural varianti1206 – 12061I → V.1 Publication
VAR_021597
Natural varianti1206 – 12061Missing in CDLS1. 1 Publication
VAR_038413
Natural varianti1246 – 12461A → G in CDLS1. 1 Publication
VAR_021598
Natural varianti1311 – 13111C → R in CDLS1. 1 Publication
VAR_019519
Natural varianti1312 – 13121L → P in CDLS1. 1 Publication
VAR_021599
Natural varianti1348 – 13481L → R in CDLS1. 1 Publication
VAR_019520
Natural varianti1647 – 16471E → K in a breast cancer sample; somatic mutation. 1 Publication
VAR_036164
Natural varianti1789 – 17891R → L in CDLS1. 1 Publication
VAR_021600
Natural varianti1803 – 18031D → V in CDLS1. 1 Publication
VAR_021601
Natural varianti1856 – 18561R → T in CDLS1. 1 Publication
VAR_021602
Natural varianti1897 – 18971Missing in CDLS1. 1 Publication
VAR_064544
Natural varianti2081 – 20811G → A in CDLS1. 1 Publication
VAR_064545
Natural varianti2090 – 20901S → I in CDLS1. 1 Publication
VAR_064546
Natural varianti2150 – 21501L → P in CDLS1. 1 Publication
VAR_064547
Natural varianti2298 – 22981R → C in CDLS1. 1 Publication
VAR_021603
Natural varianti2298 – 22981R → H in CDLS1. 1 Publication
VAR_021604
Natural varianti2312 – 23121G → R in CDLS1. 1 Publication
VAR_021605
Natural varianti2381 – 23811G → A in CDLS1. 1 Publication
VAR_021606
Natural varianti2390 – 23901A → T in CDLS1. 1 Publication
VAR_021607
Natural varianti2430 – 24301Y → C in CDLS1. 1 Publication
VAR_019521
Natural varianti2440 – 24401Y → H in CDLS1. 1 Publication
VAR_021608

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1102 – 28041703Missing in isoform 3. 1 PublicationVSP_011091Add
BLAST
Alternative sequencei2684 – 269714SLRRS…DSTEL → VRRRRSQRISQRIT in isoform 2. 3 PublicationsVSP_011092Add
BLAST
Alternative sequencei2698 – 2804107Missing in isoform 2. 3 PublicationsVSP_011093Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_005248340.1. XM_005248283.2.
UniGeneiHs.481927.

Genome annotation databases

EnsembliENST00000282516; ENSP00000282516; ENSG00000164190. [Q6KC79-1]
ENST00000448238; ENSP00000406266; ENSG00000164190. [Q6KC79-2]
GeneIDi25836.
KEGGihsa:25836.
UCSCiuc003jkk.4. human. [Q6KC79-2]
uc003jkl.4. human. [Q6KC79-1]
uc003jkm.1. human. [Q6KC79-3]

Polymorphism databases

DMDMi50400865.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_005248340.1. XM_005248283.2.
UniGenei Hs.481927.

3D structure databases

ProteinModelPortali Q6KC79.
SMRi Q6KC79. Positions 1768-1856, 2063-2096, 2173-2201.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117363. 26 interactions.
DIPi DIP-29199N.
IntActi Q6KC79. 9 interactions.
MINTi MINT-4103787.
STRINGi 9606.ENSP00000282516.

PTM databases

PhosphoSitei Q6KC79.

Polymorphism databases

DMDMi 50400865.

Proteomic databases

MaxQBi Q6KC79.
PaxDbi Q6KC79.
PRIDEi Q6KC79.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000282516 ; ENSP00000282516 ; ENSG00000164190 . [Q6KC79-1 ]
ENST00000448238 ; ENSP00000406266 ; ENSG00000164190 . [Q6KC79-2 ]
GeneIDi 25836.
KEGGi hsa:25836.
UCSCi uc003jkk.4. human. [Q6KC79-2 ]
uc003jkl.4. human. [Q6KC79-1 ]
uc003jkm.1. human. [Q6KC79-3 ]

Organism-specific databases

CTDi 25836.
GeneCardsi GC05P036876.
GeneReviewsi NIPBL.
HGNCi HGNC:28862. NIPBL.
HPAi HPA040834.
MIMi 122470. phenotype.
608667. gene.
neXtProti NX_Q6KC79.
Orphaneti 329802. 5p13 microduplication syndrome.
199. Cornelia de Lange syndrome.
PharmGKBi PA134962343.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG128278.
GeneTreei ENSGT00390000010427.
HOVERGENi HBG052626.
InParanoidi Q6KC79.
KOi K06672.
OMAi RDICIEQ.
OrthoDBi EOG7CZK4Q.
PhylomeDBi Q6KC79.
TreeFami TF313121.

Enzyme and pathway databases

Reactomei REACT_150421. Cohesin Loading onto Chromatin.

Miscellaneous databases

ChiTaRSi NIPBL. human.
GeneWikii NIPBL.
GenomeRNAii 25836.
NextBioi 47141.
PROi Q6KC79.
SOURCEi Search...

Gene expression databases

Bgeei Q6KC79.
CleanExi HS_NIPBL.
ExpressionAtlasi Q6KC79. baseline and differential.
Genevestigatori Q6KC79.

Family and domain databases

Gene3Di 1.25.10.10. 3 hits.
InterProi IPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR026003. Cohesin_HEAT.
IPR024986. Nipped-B_C.
[Graphical view ]
Pfami PF12765. Cohesin_HEAT. 1 hit.
PF12830. Nipped-B_C. 1 hit.
[Graphical view ]
SUPFAMi SSF48371. SSF48371. 3 hits.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome."
    Tonkin E.T., Wang T.-J., Lisgo S., Bamshad M.J., Strachan T.
    Nat. Genet. 36:636-641(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, VARIANTS CDLS1 ILE-1206 DEL; ARG-1311; ARG-1348 AND CYS-2430.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1175.
    Tissue: Endometrium.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 128-2804 (ISOFORM 3).
    Tissue: Cerebellum.
  4. Aihara T., Yasuo M., Kumiko K., Sasaki Y., Imaoka S., Monden M., Nakamura Y.
    Submitted (NOV-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 421-2804 (ISOFORMS 1 AND 2).
    Tissue: Testis.
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2411-2697 (ISOFORM 2).
    Tissue: Urinary bladder.
  6. Cited for: TISSUE SPECIFICITY, INVOLVEMENT IN CDLS1.
  7. "The mammalian heterochromatin protein 1 binds diverse nuclear proteins through a common motif that targets the chromoshadow domain."
    Lechner M.S., Schultz D.C., Negorev D., Maul G.G., Rauscher F.J. III
    Biochem. Biophys. Res. Commun. 331:929-937(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH CBX5.
  8. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-318; THR-713; THR-746; SER-1096; SER-2658 AND THR-2667, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
    Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.
    Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2658, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Embryonic kidney.
  11. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2658, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  12. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-150; SER-162; SER-306; SER-350; SER-912; SER-1089; SER-1090; SER-1096; SER-1150; SER-1152; SER-1154; SER-1160; SER-2509; SER-2511; SER-2513; SER-2515 AND SER-2658, PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-2667 AND SER-2672 (ISOFORM 2), IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  13. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  14. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2658, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  15. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1089; SER-1090; SER-1096; SER-1150; SER-1154; SER-1160 AND SER-2658, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  16. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
    Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
    Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  17. "Human POGZ modulates dissociation of HP1alpha from mitotic chromosome arms through Aurora B activation."
    Nozawa R.S., Nagao K., Masuda H.T., Iwasaki O., Hirota T., Nozaki N., Kimura H., Obuse C.
    Nat. Cell Biol. 12:719-727(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH CBX5, MUTAGENESIS OF VAL-1003 AND LEU-1005.
  18. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-256; SER-318; SER-350; SER-2658 AND SER-2672, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  19. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  20. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-350; SER-1096; SER-1150; SER-1152; SER-1154; SER-1160; SER-2509; SER-2511; SER-2513; SER-2515; SER-2658; THR-2667 AND SER-2672, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  21. "NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations."
    Gillis L.A., McCallum J., Kaur M., DeScipio C., Yaeger D., Mariani A., Kline A.D., Li H., Devoto M., Jackson L.G., Krantz I.D.
    Am. J. Hum. Genet. 75:610-623(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CDLS1 GLY-1246; PRO-1312; LEU-1789; VAL-1803; THR-1856; CYS-2298; HIS-2298; ARG-2312; ALA-2381; THR-2390 AND HIS-2440, VARIANTS SER-674 AND VAL-1206.
  22. Cited for: VARIANT [LARGE SCALE ANALYSIS] LYS-1647.
  23. "Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome."
    Pie J., Gil-Rodriguez M.C., Ciero M., Lopez-Vinas E., Ribate M.P., Arnedo M., Deardorff M.A., Puisac B., Legarreta J., de Karam J.C., Rubio E., Bueno I., Baldellou A., Calvo M.T., Casals N., Olivares J.L., Losada A., Hegardt F.G.
    , Krantz I.D., Gomez-Puertas P., Ramos F.J.
    Am. J. Med. Genet. A 152:924-929(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CDLS1 ASN-1897 DEL; ALA-2081; ILE-2090 AND PRO-2150.

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: October 29, 2014
This is version 125 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

External Data

Dasty 3