HUMAN:NIPBL

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	NIPBL (synonyms: IDN3)
Protein Name(s)	Nipped-B-like protein Delangin SCC2 homolog
External Links
UniProt	Q6KC79
EMBL	AJ627032 AJ640137 BX538177 BX538178 BX640644 AK126804 AB019494 AB019602 BC033847
CCDS	CCDS3920.1 CCDS47198.1
RefSeq	NP_056199.2 NP_597677.2 XP_005248340.1
UniGene	Hs.481927
ProteinModelPortal	Q6KC79
SMR	Q6KC79
BioGrid	117363
DIP	DIP-29199N
IntAct	Q6KC79
MINT	MINT-4103787
STRING	9606.ENSP00000282516
PhosphoSite	Q6KC79
DMDM	50400865
MaxQB	Q6KC79
PaxDb	Q6KC79
PRIDE	Q6KC79
Ensembl	ENST00000282516 ENST00000448238
GeneID	25836
KEGG	hsa:25836
UCSC	uc003jkk.4 uc003jkl.4 uc003jkm.1
CTD	25836
GeneCards	GC05P036876
GeneReviews	NIPBL
HGNC	HGNC:28862
HPA	HPA040834
MIM	122470 608667
neXtProt	NX_Q6KC79
Orphanet	329802 199
PharmGKB	PA134962343
eggNOG	NOG128278
GeneTree	ENSGT00390000010427
HOVERGEN	HBG052626
InParanoid	Q6KC79
KO	K06672
OMA	KQKGESR
OrthoDB	EOG7CZK4Q
PhylomeDB	Q6KC79
TreeFam	TF313121
Reactome	REACT_150421
ChiTaRS	NIPBL
GeneWiki	NIPBL
GenomeRNAi	25836
NextBio	47141
PRO	PR:Q6KC79
Proteomes	UP000005640
Bgee	Q6KC79
CleanEx	HS_NIPBL
ExpressionAtlas	Q6KC79
Genevestigator	Q6KC79
GO	GO:0070062 GO:0005654 GO:0005634 GO:0032116 GO:0003682 GO:0070087 GO:0042826 GO:0008022 GO:0047485 GO:0007420 GO:0034613 GO:0006974 GO:0071481 GO:0050890 GO:0048589 GO:0042471 GO:0048557 GO:0035115 GO:0048703 GO:0035261 GO:0048592 GO:0060325 GO:0045444 GO:0035136 GO:0061010 GO:0003007 GO:0034088 GO:0001656 GO:0000278 GO:0007064 GO:0000122 GO:0045892 GO:0003151 GO:0031065 GO:0040018 GO:0045778 GO:0048638 GO:0045995 GO:0042634 GO:0007605 GO:0019827 GO:0061038
Gene3D	1.25.10.10
InterPro	IPR011989 IPR016024 IPR026003 IPR024986
Pfam	PF12765 PF12830
SUPFAM	SSF48371

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
part_of	GO:0090694	Scc2-Scc4 cohesin loading complex	PMID:22628566^[1]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0071921	cohesin loading	PMID:22628566^[1]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0032039	integrator complex	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q6KCD5	C		Seeded From UniProt	complete
involved_in	GO:2001224	positive regulation of neuron migration	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q6KCD5	P		Seeded From UniProt	complete
part_of	GO:0070062	extracellular exosome	PMID:19056867^[2]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	part_of:(UBERON:0001088)	Seeded From UniProt	complete
enables	GO:0070087	chromo shadow domain binding	PMID:15882967^[3]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P45973	F		Seeded From UniProt	complete
involved_in	GO:0061038	uterus morphogenesis	PMID:19242925^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0061010	gall bladder development	PMID:19242925^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0060325	face morphogenesis	PMID:19242925^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0060325	face morphogenesis	PMID:15146186^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0050890	cognition	PMID:15146186^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0048638	regulation of developmental growth	PMID:19242925^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0048592	eye morphogenesis	PMID:8291537^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0048589	developmental growth	PMID:15146186^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0048557	embryonic digestive tract morphogenesis	PMID:19242925^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0048557	embryonic digestive tract morphogenesis	PMID:8291537^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0045995	regulation of embryonic development	PMID:19242925^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0045892	negative regulation of transcription, DNA-templated	PMID:18854353^[7]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0042826	histone deacetylase binding	PMID:18854353^[7]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:O15379	F		Seeded From UniProt	complete
enables	GO:0042826	histone deacetylase binding	PMID:18854353^[7]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q13547	F		Seeded From UniProt	complete
involved_in	GO:0042634	regulation of hair cycle	PMID:15146186^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0042471	ear morphogenesis	PMID:8291537^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0035261	external genitalia morphogenesis	PMID:19242925^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0035261	external genitalia morphogenesis	PMID:15146186^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0035136	forelimb morphogenesis	PMID:15146186^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0035115	embryonic forelimb morphogenesis	PMID:19242925^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0035115	embryonic forelimb morphogenesis	PMID:8291537^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0031065	positive regulation of histone deacetylation	PMID:18854353^[7]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0007605	sensory perception of sound	PMID:15146186^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0007420	brain development	PMID:8291537^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0003151	outflow tract morphogenesis	PMID:19242925^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0003007	heart morphogenesis	PMID:8291537^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0001656	metanephros development	PMID:15146185^[8]	ECO:0000303	author statement without traceable support used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0000122	negative regulation of transcription by RNA polymerase II	PMID:18854353^[7]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0071481	cellular response to X-ray	PMID:17468178^[9]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0047485	protein N-terminus binding	PMID:16802858^[10]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q9Y6X3	F		Seeded From UniProt	complete
involved_in	GO:0034613	cellular protein localization	PMID:17468178^[9]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0034088	maintenance of mitotic sister chromatid cohesion	PMID:16682347^[11]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0032116	SMC loading complex	PMID:16682347^[11]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0008022	protein C-terminus binding	PMID:17577209^[12]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q9BQA5	F		Seeded From UniProt	complete
involved_in	GO:0007064	mitotic sister chromatid cohesion	PMID:16100726^[13]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0006974	cellular response to DNA damage stimulus	PMID:17468178^[9]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:16802858^[10]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:1990414	replication-born double-strand break repair via sister chromatid exchange	PMID:21873635^[14]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000496017 SGD:S000002588	P		Seeded From UniProt	complete
involved_in	GO:1905406	positive regulation of mitotic cohesin loading	PMID:21873635^[14]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000496017 PomBase:SPAC31A2.05c	P		Seeded From UniProt	complete
part_of	GO:0090694	Scc2-Scc4 cohesin loading complex	PMID:21873635^[14]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000496017 PomBase:SPAC31A2.05c UniProtKB:Q6KC79	C		Seeded From UniProt	complete
involved_in	GO:0071733	transcriptional activation by promoter-enhancer looping	PMID:21873635^[14]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0026401 PANTHER:PTN000496017 ZFIN:ZDB-GENE-030131-6070 ZFIN:ZDB-GENE-060526-121	P		Seeded From UniProt	complete
involved_in	GO:0071169	establishment of protein localization to chromatin	PMID:21873635^[14]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000496017 SGD:S000002588	P		Seeded From UniProt	complete
involved_in	GO:0070550	rDNA condensation	PMID:21873635^[14]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000496017 SGD:S000002588	P		Seeded From UniProt	complete
involved_in	GO:0048703	embryonic viscerocranium morphogenesis	PMID:21873635^[14]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1913976 PANTHER:PTN000496024	P		Seeded From UniProt	complete
involved_in	GO:0034087	establishment of mitotic sister chromatid cohesion	PMID:21873635^[14]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000496017 SGD:S000002588	P		Seeded From UniProt	complete
involved_in	GO:0007507	heart development	PMID:21873635^[14]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1913976 PANTHER:PTN000496024	P		Seeded From UniProt	complete
involved_in	GO:0007420	brain development	PMID:21873635^[14]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000496024 UniProtKB:Q6KC79	P		Seeded From UniProt	complete
involved_in	GO:0007076	mitotic chromosome condensation	PMID:21873635^[14]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000496017 SGD:S000002588	P		Seeded From UniProt	complete
involved_in	GO:0007064	mitotic sister chromatid cohesion	PMID:21873635^[14]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0026401 PANTHER:PTN000496017 UniProtKB:Q6KC79	P		Seeded From UniProt	complete
involved_in	GO:0006302	double-strand break repair	PMID:21873635^[14]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000496017 SGD:S000002588	P		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:21873635^[14]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0026401 MGI:MGI:1913976 PANTHER:PTN000496017 SGD:S000002588 UniProtKB:Q6KC79	C		Seeded From UniProt	complete
enables	GO:0003682	chromatin binding	PMID:21873635^[14]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0026401 MGI:MGI:1913976 PANTHER:PTN000496017	F		Seeded From UniProt	complete
involved_in	GO:0003007	heart morphogenesis	PMID:21873635^[14]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000496024 UniProtKB:Q6KC79	P		Seeded From UniProt	complete
part_of	GO:0000790	nuclear chromatin	PMID:21873635^[14]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000496017 SGD:S000002588	C		Seeded From UniProt	complete
part_of	GO:0000785	chromatin	PMID:21873635^[14]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1913976 PANTHER:PTN000496017	C		Seeded From UniProt	complete
part_of	GO:0000228	nuclear chromosome	PMID:21873635^[14]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000496017 PomBase:SPAC31A2.05c	C		Seeded From UniProt	complete
involved_in	GO:2001224	positive regulation of neuron migration	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6KCD5 ensembl:ENSMUSP00000059385	P		Seeded From UniProt	complete
involved_in	GO:0071921	cohesin loading	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6KCD5 ensembl:ENSMUSP00000059385	P		Seeded From UniProt	complete
involved_in	GO:0048703	embryonic viscerocranium morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6KCD5 ensembl:ENSMUSP00000059385	P		Seeded From UniProt	complete
involved_in	GO:0048701	embryonic cranial skeleton morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6KCD5 ensembl:ENSMUSP00000059385	P		Seeded From UniProt	complete
involved_in	GO:0045944	positive regulation of transcription by RNA polymerase II	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6KCD5 ensembl:ENSMUSP00000059385	P		Seeded From UniProt	complete
involved_in	GO:0045778	positive regulation of ossification	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6KCD5 ensembl:ENSMUSP00000059385	P		Seeded From UniProt	complete
involved_in	GO:0045444	fat cell differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6KCD5 ensembl:ENSMUSP00000059385	P		Seeded From UniProt	complete
involved_in	GO:0040018	positive regulation of multicellular organism growth	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6KCD5 ensembl:ENSMUSP00000059385	P		Seeded From UniProt	complete
enables	GO:0036033	mediator complex binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6KCD5 ensembl:ENSMUSP00000059385	F		Seeded From UniProt	complete
part_of	GO:0032039	integrator complex	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6KCD5 ensembl:ENSMUSP00000059385	C		Seeded From UniProt	complete
involved_in	GO:0019827	stem cell population maintenance	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6KCD5 ensembl:ENSMUSP00000059385	P		Seeded From UniProt	complete
involved_in	GO:0007507	heart development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6KCD5 ensembl:ENSMUSP00000059385	P		Seeded From UniProt	complete
involved_in	GO:0006357	regulation of transcription by RNA polymerase II	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6KCD5 ensembl:ENSMUSP00000059385	P		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6KCD5 ensembl:ENSMUSP00000059385	C		Seeded From UniProt	complete
enables	GO:0003682	chromatin binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6KCD5 ensembl:ENSMUSP00000059385	F		Seeded From UniProt	complete
part_of	GO:0000785	chromatin	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6KCD5 ensembl:ENSMUSP00000059385	C		Seeded From UniProt	complete
enables	GO:0003682	chromatin binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR033031	F		Seeded From UniProt	complete
involved_in	GO:0010468	regulation of gene expression	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR033031	P		Seeded From UniProt	complete
part_of	GO:0005654	nucleoplasm	Reactome:R-HSA-2470935	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0007275	multicellular organism development	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0217	P		Seeded From UniProt	complete
part_of	GO:0005694	chromosome	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0158 UniProtKB-SubCell:SL-0468	C		Seeded From UniProt	complete
involved_in	GO:0007049	cell cycle	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0131	P		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0539 UniProtKB-SubCell:SL-0191	C		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 Bermudez, VP et al. (2012) In vitro loading of human cohesin on DNA by the human Scc2-Scc4 loader complex. Proc. Natl. Acad. Sci. U.S.A. 109 9366-71 PubMed GONUTS page
↑ Gonzales, PA et al. (2009) Large-scale proteomics and phosphoproteomics of urinary exosomes. J. Am. Soc. Nephrol. 20 363-79 PubMed GONUTS page
↑ Lechner, MS et al. (2005) The mammalian heterochromatin protein 1 binds diverse nuclear proteins through a common motif that targets the chromoshadow domain. Biochem. Biophys. Res. Commun. 331 929-37 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 ^4.3 ^4.4 ^4.5 ^4.6 ^4.7 ^4.8 Chong, K et al. (2009) Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings. Prenat. Diagn. 29 489-94 PubMed GONUTS page
↑ ^5.0 ^5.1 ^5.2 ^5.3 ^5.4 ^5.5 ^5.6 Krantz, ID et al. (2004) Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat. Genet. 36 631-5 PubMed GONUTS page
↑ ^6.0 ^6.1 ^6.2 ^6.3 ^6.4 ^6.5 Jackson, L et al. (1993) de Lange syndrome: a clinical review of 310 individuals. Am. J. Med. Genet. 47 940-6 PubMed GONUTS page
↑ ^7.0 ^7.1 ^7.2 ^7.3 ^7.4 Jahnke, P et al. (2008) The Cohesin loading factor NIPBL recruits histone deacetylases to mediate local chromatin modifications. Nucleic Acids Res. 36 6450-8 PubMed GONUTS page
↑ Tonkin, ET et al. (2004) NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat. Genet. 36 636-41 PubMed GONUTS page
↑ ^9.0 ^9.1 ^9.2 Vrouwe, MG et al. (2007) Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair. Hum. Mol. Genet. 16 1478-87 PubMed GONUTS page
↑ ^10.0 ^10.1 Seitan, VC et al. (2006) Metazoan Scc4 homologs link sister chromatid cohesion to cell and axon migration guidance. PLoS Biol. 4 e242 PubMed GONUTS page
↑ ^11.0 ^11.1 Watrin, E et al. (2006) Human Scc4 is required for cohesin binding to chromatin, sister-chromatid cohesion, and mitotic progression. Curr. Biol. 16 863-74 PubMed GONUTS page
↑ Miele, A et al. (2007) The interactome of the histone gene regulatory factor HiNF-P suggests novel cell cycle related roles in transcriptional control and RNA processing. J. Cell. Biochem. 102 136-48 PubMed GONUTS page
↑ Kaur, M et al. (2005) Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome. Am. J. Med. Genet. A 138 27-31 PubMed GONUTS page
↑ ^14.00 ^14.01 ^14.02 ^14.03 ^14.04 ^14.05 ^14.06 ^14.07 ^14.08 ^14.09 ^14.10 ^14.11 ^14.12 ^14.13 ^14.14 ^14.15 ^14.16 ^14.17 ^14.18 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:22628566-1] 1.0 ^1.1 Bermudez, VP et al. (2012) In vitro loading of human cohesin on DNA by the human Scc2-Scc4 loader complex. Proc. Natl. Acad. Sci. U.S.A. 109 9366-71 PubMed GONUTS page

[PMID:19056867-2] Gonzales, PA et al. (2009) Large-scale proteomics and phosphoproteomics of urinary exosomes. J. Am. Soc. Nephrol. 20 363-79 PubMed GONUTS page

[PMID:15882967-3] Lechner, MS et al. (2005) The mammalian heterochromatin protein 1 binds diverse nuclear proteins through a common motif that targets the chromoshadow domain. Biochem. Biophys. Res. Commun. 331 929-37 PubMed GONUTS page

[PMID:19242925-4] 4.0 ^4.1 ^4.2 ^4.3 ^4.4 ^4.5 ^4.6 ^4.7 ^4.8 Chong, K et al. (2009) Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings. Prenat. Diagn. 29 489-94 PubMed GONUTS page

[PMID:15146186-5] 5.0 ^5.1 ^5.2 ^5.3 ^5.4 ^5.5 ^5.6 Krantz, ID et al. (2004) Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat. Genet. 36 631-5 PubMed GONUTS page

[PMID:8291537-6] 6.0 ^6.1 ^6.2 ^6.3 ^6.4 ^6.5 Jackson, L et al. (1993) de Lange syndrome: a clinical review of 310 individuals. Am. J. Med. Genet. 47 940-6 PubMed GONUTS page

[PMID:18854353-7] 7.0 ^7.1 ^7.2 ^7.3 ^7.4 Jahnke, P et al. (2008) The Cohesin loading factor NIPBL recruits histone deacetylases to mediate local chromatin modifications. Nucleic Acids Res. 36 6450-8 PubMed GONUTS page

[PMID:15146185-8] Tonkin, ET et al. (2004) NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat. Genet. 36 636-41 PubMed GONUTS page

[PMID:17468178-9] 9.0 ^9.1 ^9.2 Vrouwe, MG et al. (2007) Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair. Hum. Mol. Genet. 16 1478-87 PubMed GONUTS page

[PMID:16802858-10] 10.0 ^10.1 Seitan, VC et al. (2006) Metazoan Scc4 homologs link sister chromatid cohesion to cell and axon migration guidance. PLoS Biol. 4 e242 PubMed GONUTS page

[PMID:16682347-11] 11.0 ^11.1 Watrin, E et al. (2006) Human Scc4 is required for cohesin binding to chromatin, sister-chromatid cohesion, and mitotic progression. Curr. Biol. 16 863-74 PubMed GONUTS page

[PMID:17577209-12] Miele, A et al. (2007) The interactome of the histone gene regulatory factor HiNF-P suggests novel cell cycle related roles in transcriptional control and RNA processing. J. Cell. Biochem. 102 136-48 PubMed GONUTS page

[PMID:16100726-13] Kaur, M et al. (2005) Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome. Am. J. Med. Genet. A 138 27-31 PubMed GONUTS page

[PMID:21873635-14] 14.00 ^14.01 ^14.02 ^14.03 ^14.04 ^14.05 ^14.06 ^14.07 ^14.08 ^14.09 ^14.10 ^14.11 ^14.12 ^14.13 ^14.14 ^14.15 ^14.16 ^14.17 ^14.18 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

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