DANRE:A1L2B2

Species (Taxon ID)	Danio rerio (Zebrafish) (Brachydanio rerio). (7955)
Gene Name(s)	nipblb (synonyms: LOC794108, nipbl)
Protein Name(s)	LOC794108 protein
External Links
UniProt	A1L2B2
EMBL	BC129432
IPI	IPI00802686
UniGene	Dr.78039
ZFIN	ZDB-GENE-030131-6070
eggNOG	NOG128278
HOVERGEN	HBG092196
InParanoid	A1L2B2
OrthoDB	EOG4001HC
Bgee	A1L2B2

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Notes	Status
involved_in	GO:0071921	cohesin loading	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q6KC79	P	Seeded From UniProt	complete
involved_in	GO:0071733	transcriptional activation by promoter-enhancer looping	PMID:25255084^[1]	ECO:0000316	genetic interaction evidence used in manual assertion	ZFIN:ZDB-MRPHLNO-111201-1 ZFIN:ZDB-MRPHLNO-111201-3	P	Seeded From UniProt	complete
involved_in	GO:0071733	transcriptional activation by promoter-enhancer looping	PMID:25255084^[1]	ECO:0000316	genetic interaction evidence used in manual assertion	ZFIN:ZDB-MRPHLNO-080819-1 ZFIN:ZDB-MRPHLNO-111201-1 ZFIN:ZDB-MRPHLNO-111201-3	P	Seeded From UniProt	complete
involved_in	GO:0070050	neuron cellular homeostasis	PMID:26206533^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion	ZFIN:ZDB-MRPHLNO-131219-3	P	Seeded From UniProt	complete
involved_in	GO:0060828	regulation of canonical Wnt signaling pathway	PMID:24136230^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion	ZFIN:ZDB-MRPHLNO-131219-3	P	Seeded From UniProt	complete
involved_in	GO:0048703	embryonic viscerocranium morphogenesis	PMID:25378554^[4]	ECO:0000316	genetic interaction evidence used in manual assertion	ZFIN:ZDB-MRPHLNO-111201-1 ZFIN:ZDB-MRPHLNO-111201-3	P	Seeded From UniProt	complete
involved_in	GO:0048589	developmental growth	PMID:26206533^[2]	ECO:0000316	genetic interaction evidence used in manual assertion	ZFIN:ZDB-MRPHLNO-131219-3 ZFIN:ZDB-MRPHLNO-160407-3	P	Seeded From UniProt	complete
involved_in	GO:0048565	digestive tract development	PMID:22039349^[5]	ECO:0000316	genetic interaction evidence used in manual assertion	ZFIN:ZDB-MRPHLNO-111201-1 ZFIN:ZDB-MRPHLNO-111201-3	P	Seeded From UniProt	complete
involved_in	GO:0035118	embryonic pectoral fin morphogenesis	PMID:25255084^[1]	ECO:0000316	genetic interaction evidence used in manual assertion	ZFIN:ZDB-MRPHLNO-111201-1 ZFIN:ZDB-MRPHLNO-111201-3	P	Seeded From UniProt	complete
involved_in	GO:0035118	embryonic pectoral fin morphogenesis	PMID:25255084^[1]	ECO:0000316	genetic interaction evidence used in manual assertion	ZFIN:ZDB-MRPHLNO-080819-1 ZFIN:ZDB-MRPHLNO-111201-1 ZFIN:ZDB-MRPHLNO-111201-3	P	Seeded From UniProt	complete
involved_in	GO:0009303	rRNA transcription	PMID:25378554^[4]	ECO:0000316	genetic interaction evidence used in manual assertion	ZFIN:ZDB-MRPHLNO-111201-1 ZFIN:ZDB-MRPHLNO-111201-3	P	Seeded From UniProt	complete
involved_in	GO:0007507	heart development	PMID:22039349^[5]	ECO:0000316	genetic interaction evidence used in manual assertion	ZFIN:ZDB-MRPHLNO-111201-1 ZFIN:ZDB-MRPHLNO-111201-3	P	Seeded From UniProt	complete
involved_in	GO:0007417	central nervous system development	PMID:24136230^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion	ZFIN:ZDB-MRPHLNO-131219-3	P	Seeded From UniProt	complete
involved_in	GO:0006412	translation	PMID:25378554^[4]	ECO:0000316	genetic interaction evidence used in manual assertion	ZFIN:ZDB-MRPHLNO-111201-1 ZFIN:ZDB-MRPHLNO-111201-3	P	Seeded From UniProt	complete
involved_in	GO:0003146	heart jogging	PMID:22039349^[5]	ECO:0000316	genetic interaction evidence used in manual assertion	ZFIN:ZDB-MRPHLNO-111201-1 ZFIN:ZDB-MRPHLNO-111201-3	P	Seeded From UniProt	complete
involved_in	GO:1990414	replication-born double-strand break repair via sister chromatid exchange	PMID:21873635^[6]	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^[6]	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^[6]	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^[6]	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^[6]	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^[6]	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^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000496041 ZFIN:ZDB-GENE-060526-121	P	Seeded From UniProt	complete
involved_in	GO:0048565	digestive tract development	PMID:21873635^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000496041 ZFIN:ZDB-GENE-030131-6070 ZFIN:ZDB-GENE-060526-121	P	Seeded From UniProt	complete
involved_in	GO:0034087	establishment of mitotic sister chromatid cohesion	PMID:21873635^[6]	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^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000496041 ZFIN:ZDB-GENE-030131-6070 ZFIN:ZDB-GENE-060526-121	P	Seeded From UniProt	complete
involved_in	GO:0007076	mitotic chromosome condensation	PMID:21873635^[6]	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^[6]	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^[6]	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^[6]	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^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0026401 MGI:MGI:1913976 PANTHER:PTN000496017	F	Seeded From UniProt	complete
part_of	GO:0000790	nuclear chromatin	PMID:21873635^[6]	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^[6]	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^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000496017 PomBase:SPAC31A2.05c	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
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: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
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
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Notes

References

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

↑ ^1.0 ^1.1 ^1.2 ^1.3 Muto, A et al. (2014) Nipbl and mediator cooperatively regulate gene expression to control limb development. PLoS Genet. 10 e1004671 PubMed GONUTS page
↑ ^2.0 ^2.1 Fazio, G et al. (2016) CyclinD1 Down-Regulation and Increased Apoptosis Are Common Features of Cohesinopathies. J. Cell. Physiol. 231 613-22 PubMed GONUTS page
↑ ^3.0 ^3.1 Pistocchi, A et al. (2013) Cornelia de Lange Syndrome: NIPBL haploinsufficiency downregulates canonical Wnt pathway in zebrafish embryos and patients fibroblasts. Cell Death Dis 4 e866 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 Xu, B et al. (2015) L-leucine partially rescues translational and developmental defects associated with zebrafish models of Cornelia de Lange syndrome. Hum. Mol. Genet. 24 1540-55 PubMed GONUTS page
↑ ^5.0 ^5.1 ^5.2 Muto, A et al. (2011) Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome. PLoS Biol. 9 e1001181 PubMed GONUTS page
↑ ^6.00 ^6.01 ^6.02 ^6.03 ^6.04 ^6.05 ^6.06 ^6.07 ^6.08 ^6.09 ^6.10 ^6.11 ^6.12 ^6.13 ^6.14 ^6.15 ^6.16 ^6.17 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:25255084-1] 1.0 ^1.1 ^1.2 ^1.3 Muto, A et al. (2014) Nipbl and mediator cooperatively regulate gene expression to control limb development. PLoS Genet. 10 e1004671 PubMed GONUTS page

[PMID:26206533-2] 2.0 ^2.1 Fazio, G et al. (2016) CyclinD1 Down-Regulation and Increased Apoptosis Are Common Features of Cohesinopathies. J. Cell. Physiol. 231 613-22 PubMed GONUTS page

[PMID:24136230-3] 3.0 ^3.1 Pistocchi, A et al. (2013) Cornelia de Lange Syndrome: NIPBL haploinsufficiency downregulates canonical Wnt pathway in zebrafish embryos and patients fibroblasts. Cell Death Dis 4 e866 PubMed GONUTS page

[PMID:25378554-4] 4.0 ^4.1 ^4.2 Xu, B et al. (2015) L-leucine partially rescues translational and developmental defects associated with zebrafish models of Cornelia de Lange syndrome. Hum. Mol. Genet. 24 1540-55 PubMed GONUTS page

[PMID:22039349-5] 5.0 ^5.1 ^5.2 Muto, A et al. (2011) Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome. PLoS Biol. 9 e1001181 PubMed GONUTS page

[PMID:21873635-6] 6.00 ^6.01 ^6.02 ^6.03 ^6.04 ^6.05 ^6.06 ^6.07 ^6.08 ^6.09 ^6.10 ^6.11 ^6.12 ^6.13 ^6.14 ^6.15 ^6.16 ^6.17 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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DANRE:A1L2B2

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