EuRBPDB

Description

RBPome

PRI

Expression

Transcripts

Gene Model

Phenotypes

GWAS

PPI

Orthologs

Gene Ontology

Description

Ensembl ID: ENSG00000164190 (Gene tree)
Gene ID: 25836
Gene Symbol: NIPBL
Alias: IDN3|DKFZp434L1319|FLJ11203|FLJ12597|FLJ13354|FLJ13648|Scc2
Full Name: NIPBL cohesin loading factor
Gene Type: protein_coding
Species: Homo_sapiens
Status: confidence
Strand: Plus strand
Length: 189,655 bases
Position: chr5:36,876,759-37,066,413
Accession: 28862
RBP type: non-canonical RBP
Summary: This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and cognitive disability. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

RNA binding proteome (RBPome)

PID	Title	Method	Time	Author	Doi
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & HEK293	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2
29431736	Capturing the interactome of newly transcribed RNA	PolyT-RICK & Hela	2018 Feb 12	Bao X	DOI: 10.1038/nmeth.4595
30528433	The Human RNA-Binding Proteome and Its Dynamics during Translational Arrest	XRNAX & Hela	2018 Dec 6	Trendel J	DOI: 10.1016/j.cell.2018.11.004
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & MCF10A	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2

Protein-RNA interaction（RNA-Binding Site）

Click here to download all RNA binding sites

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000504430	NIPBL-204	3455	-	-	- (aa)	-	-
ENST00000503274	NIPBL-203	789	-	-	- (aa)	-	-
ENST00000513819	NIPBL-207	452	-	ENSP00000421504	150 (aa)	-	H0Y8M3
ENST00000448238	NIPBL-202	8729	XM_005248280	ENSP00000406266	2697 (aa)	XP_005248337	Q6KC79
ENST00000509429	NIPBL-206	586	-	-	- (aa)	-	-
ENST00000505998	NIPBL-205	969	-	-	- (aa)	-	-
ENST00000514335	NIPBL-208	2948	-	-	- (aa)	-	-
ENST00000282516	NIPBL-201	10435	XM_005248282	ENSP00000282516	2804 (aa)	XP_005248339	Q6KC79

Gene Model

Click here to download ENSG00000164190's gene model file

Phenotypes

ensgID	Trait	pValue	Pubmed ID
ENSG00000164190	Body Height	2.0680000E-005	-
ENSG00000164190	Body Height	2.9460000E-005	-
ENSG00000164190	Body Height	5.6430000E-005	-
ENSG00000164190	Body Height	9.4100000E-005	-
ENSG00000164190	Blood Pressure	2.1858418E-005	-
ENSG00000164190	Body Height	4E-16	25282103
ENSG00000164190	Motor Activity	7E-6	23251661

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000164190	rs293748	5	36900741	A	Obesity-related traits	23251661	[NR] %awake time increase	0.03	EFO_0003940
ENSG00000164190	rs301901	5	37046524	A	Height	25282103	[0.018-0.03] unit increase	0.024	EFO_0004339
ENSG00000164190	rs192668	5	36982546	?	Adolescent idiopathic scoliosis	30019117			EFO_0005423

Protein-Protein Interaction (PPI)

Clik here to download ENSG00000164190's network

* RBP PPI network refers to all genes directly bind to RBP

Orthologs identified by RBPome

Ensembl ID	Gene Symbol	Coverage	Identiy	Ortholog	Gene Symbol	Coverage	Identiy	Species
ENSG00000164190	NIPBL	100	96.683	ENSMUSG00000022141	Nipbl	100	96.683	Mus_musculus

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0000122	negative regulation of transcription by RNA polymerase II	18854353.	IDA	Process
GO:0000228	nuclear chromosome	21873635.	IBA	Component
GO:0000785	chromatin	21873635.	IBA	Component
GO:0000790	nuclear chromatin	21873635.	IBA	Component
GO:0001656	metanephros development	15146185.	NAS	Process
GO:0003007	heart morphogenesis	21873635.	IBA	Process
GO:0003007	heart morphogenesis	8291537.	IMP	Process
GO:0003151	outflow tract morphogenesis	19242925.	IMP	Process
GO:0003682	chromatin binding	21873635.	IBA	Function
GO:0005515	protein binding	16682347.16802858.21934712.22628566.26496610.	IPI	Function
GO:0005634	nucleus	21873635.	IBA	Component
GO:0005634	nucleus	16802858.	IDA	Component
GO:0005654	nucleoplasm	-	TAS	Component
GO:0006302	double-strand break repair	21873635.	IBA	Process
GO:0006974	cellular response to DNA damage stimulus	17468178.	IMP	Process
GO:0007064	mitotic sister chromatid cohesion	21873635.	IBA	Process
GO:0007064	mitotic sister chromatid cohesion	16100726.	IMP	Process
GO:0007076	mitotic chromosome condensation	21873635.	IBA	Process
GO:0007420	brain development	21873635.	IBA	Process
GO:0007420	brain development	8291537.	IMP	Process
GO:0007507	heart development	21873635.	IBA	Process
GO:0007605	sensory perception of sound	15146186.	IMP	Process
GO:0008022	protein C-terminus binding	17577209.	IPI	Function
GO:0019827	stem cell population maintenance	-	IEA	Process
GO:0031065	positive regulation of histone deacetylation	18854353.	IDA	Process
GO:0032039	integrator complex	-	ISS	Component
GO:0032116	SMC loading complex	16682347.	IDA	Component
GO:0034087	establishment of mitotic sister chromatid cohesion	21873635.	IBA	Process
GO:0034088	maintenance of mitotic sister chromatid cohesion	16682347.	IMP	Process
GO:0034613	cellular protein localization	17468178.	IMP	Process
GO:0035115	embryonic forelimb morphogenesis	8291537.19242925.	IMP	Process
GO:0035136	forelimb morphogenesis	15146186.	IMP	Process
GO:0035261	external genitalia morphogenesis	15146186.19242925.	IMP	Process
GO:0036033	mediator complex binding	-	IEA	Function
GO:0040018	positive regulation of multicellular organism growth	-	IEA	Process
GO:0042471	ear morphogenesis	8291537.	IMP	Process
GO:0042634	regulation of hair cycle	15146186.	IMP	Process
GO:0042826	histone deacetylase binding	18854353.	IPI	Function
GO:0045444	fat cell differentiation	-	IEA	Process
GO:0045778	positive regulation of ossification	-	IEA	Process
GO:0045892	negative regulation of transcription, DNA-templated	18854353.	IDA	Process
GO:0045995	regulation of embryonic development	19242925.	IMP	Process
GO:0047485	protein N-terminus binding	16802858.	IPI	Function
GO:0048557	embryonic digestive tract morphogenesis	8291537.19242925.	IMP	Process
GO:0048589	developmental growth	15146186.	IMP	Process
GO:0048592	eye morphogenesis	8291537.	IMP	Process
GO:0048638	regulation of developmental growth	19242925.	IMP	Process
GO:0048703	embryonic viscerocranium morphogenesis	21873635.	IBA	Process
GO:0050890	cognition	15146186.	IMP	Process
GO:0060325	face morphogenesis	15146186.19242925.	IMP	Process
GO:0061010	gall bladder development	19242925.	IMP	Process
GO:0061038	uterus morphogenesis	19242925.	IMP	Process
GO:0070062	extracellular exosome	19056867.	HDA	Component
GO:0070087	chromo shadow domain binding	15882967.	IPI	Function
GO:0070550	rDNA condensation	21873635.	IBA	Process
GO:0071169	establishment of protein localization to chromatin	21873635.	IBA	Process
GO:0071481	cellular response to X-ray	17468178.	IMP	Process
GO:0071733	transcriptional activation by promoter-enhancer looping	21873635.	IBA	Process
GO:0071921	cohesin loading	22628566.	IDA	Process
GO:0090694	Scc2-Scc4 cohesin loading complex	21873635.	IBA	Component
GO:0090694	Scc2-Scc4 cohesin loading complex	22628566.	IDA	Component
GO:1905406	positive regulation of mitotic cohesin loading	21873635.	IBA	Process
GO:1990414	replication-born double-strand break repair via sister chromatid exchange	21873635.	IBA	Process
GO:2001224	positive regulation of neuron migration	-	ISS	Process