|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeName
|
delangin
Scc2 homolog
|
|
gptkbp:associatedWith
|
gptkb:Cornelia_de_Lange_syndrome
|
|
gptkbp:chromosomal_band
|
5p13.2
|
|
gptkbp:discoveredBy
|
2003
|
|
gptkbp:Entrez_Gene_ID
|
25836
ENSG00000125818
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:fullName
|
gptkb:Nipped-B-like_protein
|
|
gptkbp:function
|
regulation of gene expression
regulation of sister chromatid cohesion
cohesin loading factor
|
|
gptkbp:gene
|
gptkb:NIPBL
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GO_term
|
GO:0003677 (DNA binding)
GO:0005634 (nucleus)
GO:0007062 (sister chromatid cohesion)
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
HGNC:18758
|
|
gptkbp:interactsWith
|
gptkb:cohesin_complex
MAU2
|
|
gptkbp:length
|
2804
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_5
|
|
gptkbp:molecularWeight
|
314 kDa
|
|
gptkbp:mutationAssociatedWith
|
gptkb:developmental_disorder
nonsense
missense
frameshift
splice site
|
|
gptkbp:OMIM
|
608667
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:ortholog_in_Drosophila
|
gptkb:Nipped-B
|
|
gptkbp:orthologInMouse
|
Nipbl
|
|
gptkbp:pathway
|
DNA repair
cell cycle
chromosome segregation
|
|
gptkbp:PDB
|
7NPL
|
|
gptkbp:proteinFamily
|
C-terminal domain
N-terminal domain
coiled coil
HEAT repeat
Scc2 family
|
|
gptkbp:reviewedBy
|
gptkb:UniProtKB/Swiss-Prot
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
|
|
gptkbp:UniProtID
|
Q6KC79
|
|
gptkbp:bfsParent
|
gptkb:SCC2
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
NIPBL (human)
|