• Gene id: 25836

Gene Summary

• Gene Symbol: NIPBL   Gene   UCSC   Ensembl
• Aliases: CDLS, CDLS1, IDN3, IDN3-B, Scc2
• Gene name: NIPBL cohesin loading factor
• Alternate names: nipped-B-like protein, Nipped-B homolog, SCC2 homolog, delangin, sister chromatid cohesion 2 homolog,
• Gene location: 5p13.2 (36876768: 37066412)     Exons: 2     NC_000005.10
• Gene summary(Entrez): 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 developm
• OMIM: 608667

Protein Summary

• Protein general information: Q6KC79  
  • Name: Nipped B like protein (Delangin) (SCC2 homolog)
  • Length: 2804  
  • Mass: 316051
  • Tissue specificity: 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 bra
• Sequence:

  MNGDMPHVPITTLAGIASLTDLLNQLPLPSPLPATTTKSLLFNARIAEEVNCLLACRDDNLVSQLVHSLNQVSTD
  HIELKDNLGSDDPEGDIPVLLQAVLARSPNVFREKSMQNRYVQSGMMMSQYKLSQNSMHSSPASSNYQQTTISHS
  PSSRFVPPQTSSGNRFMPQQNSPVPSPYAPQSPAGYMPYSHPSSYTTHPQMQQASVSSPIVAGGLRNIHDNKVSG
  PLSGNSANHHADNPRHGSSEDYLHMVHRLSSDDGDSSTMRNAASFPLRSPQPVCSPAGSEGTPKGSRPPLILQSQ
  SLPCSSPRDVPPDILLDSPERKQKKQKKMKLGKDEKEQSEKAAMYDIISSPSKDSTKLTLRLSRVRSSDMDQQED
  MISGVENSNVSENDIPFNVQYPGQTSKTPITPQDINRPLNAAQCLSQQEQTAFLPANQVPVLQQNTSVAAKQPQT
  SVVQNQQQISQQGPIYDEVELDALAEIERIERESAIERERFSKEVQDKDKPLKKRKQDSYPQEAGGATGGNRPAS
  QETGSTGNGSRPALMVSIDLHQAGRVDSQASITQDSDSIKKPEEIKQCNDAPVSVLQEDIVGSLKSTPENHPETP
  KKKSDPELSKSEMKQSESRLAESKPNENRLVETKSSENKLETKVETQTEELKQNESRTTECKQNESTIVEPKQNE
  NRLSDTKPNDNKQNNGRSETTKSRPETPKQKGESRPETPKQKSDGHPETPKQKGDGRPETPKQKGESRPETPKQK
  NEGRPETPKHRHDNRRDSGKPSTEKKPEVSKHKQDTKSDSPRLKSERAEALKQRPDGRSVSESLRRDHDNKQKSD
  DRGESERHRGDQSRVRRPETLRSSSRNEHGIKSDSSKTDKLERKHRHESGDSRERPSSGEQKSRPDSPRVKQGDS
  NKSRSDKLGFKSPTSKDDKRTEGNKSKVDTNKAHPDNKAEFPSYLLGGRSGALKNFVIPKIKRDKDGNVTQETKK
  MEMKGEPKDKVEKIGLVEDLNKGAKPVVVLQKLSLDDVQKLIKDREDKSRSSLKPIKNKPSKSNKGSIDQSVLKE
  LPPELLAEIESTMPLCERVKMNKRKRSTVNEKPKYAEISSDEDNDSDEAFESSRKRHKKDDDKAWEYEERDRRSS
  GDHRRSGHSHEGRRSSGGGRYRNRSPSDSDMEDYSPPPSLSEVARKMKKKEKQKKRKAYEPKLTPEEMMDSSTFK
  RFTASIENILDNLEDMDFTAFGDDDEIPQELLLGKHQLNELGSESAKIKAMGIMDKLSTDKTVKVLNILEKNIQD
  GSKLSTLLNHNNDTEEEERLWRDLIMERVTKSADACLTTINIMTSPNMPKAVYIEDVIERVIQYTKFHLQNTLYP
  QYDPVYRLDPHGGGLLSSKAKRAKCSTHKQRVIVMLYNKVCDIVSSLSELLEIQLLTDTTILQVSSMGITPFFVE
  NVSELQLCAIKLVTAVFSRYEKHRQLILEEIFTSLARLPTSKRSLRNFRLNSSDMDGEPMYIQMVTALVLQLIQC
  VVHLPSSEKDSNAEEDSNKKIDQDVVITNSYETAMRTAQNFLSIFLKKCGSKQGEEDYRPLFENFVQDLLSTVNK
  PEWPAAELLLSLLGRLLVHQFSNKSTEMALRVASLDYLGTVAARLRKDAVTSKMDQGSIERILKQVSGGEDEIQQ
  LQKALLDYLDENTETDPSLVFSRKFYIAQWFRDTTLETEKAMKSQKDEESSEGTHHAKEIETTGQIMHRAENRKK
  FLRSIIKTTPSQFSTLKMNSDTVDYDDACLIVRYLASMRPFAQSFDIYLTQILRVLGENAIAVRTKAMKCLSEVV
  AVDPSILARLDMQRGVHGRLMDNSTSVREAAVELLGRFVLCRPQLAEQYYDMLIERILDTGISVRKRVIKILRDI
  CIEQPTFPKITEMCVKMIRRVNDEEGIKKLVNETFQKLWFTPTPHNDKEAMTRKILNITDVVAACRDTGYDWFEQ
  LLQNLLKSEEDSSYKPVKKACTQLVDNLVEHILKYEESLADSDNKGVNSGRLVACITTLFLFSKIRPQLMVKHAM
  TMQPYLTTKCSTQNDFMVICNVAKILELVVPLMEHPSETFLATIEEDLMKLIIKYGMTVVQHCVSCLGAVVNKVT
  QNFKFVWACFNRYYGAISKLKSQHQEDPNNTSLLTNKPALLRSLFTVGALCRHFDFDLEDFKGNSKVNIKDKVLE
  LLMYFTKHSDEEVQTKAIIGLGFAFIQHPSLMFEQEVKNLYNNILSDKNSSVNLKIQVLKNLQTYLQEEDTRMQQ
  ADRDWKKVAKQEDLKEMGDVSSGMSSSIMQLYLKQVLEAFFHTQSSVRHFALNVIALTLNQGLIHPVQCVPYLIA
  MGTDPEPAMRNKADQQLVEIDKKYAGFIHMKAVAGMKMSYQVQQAINTCLKDPVRGFRQDESSSALCSHLYSMIR
  GNRQHRRAFLISLLNLFDDTAKTDVTMLLYIADNLACFPYQTQEEPLFIMHHIDITLSVSGSNLLQSFKESMVKD
  KRKERKSSPSKENESSDSEEEVSRPRKSRKRVDSDSDSDSEDDINSVMKCLPENSAPLIEFANVSQGILLLLMLK
  QHLKNLCGFSDSKIQKYSPSESAKVYDKAINRKTGVHFHPKQTLDFLRSDMANSKITEEVKRSIVKQYLDFKLLM
  EHLDPDEEEEEGEVSASTNARNKAITSLLGGGSPKNNTAAETEDDESDGEDRGGGTSGSLRRSKRNSDSTELAAQ
  MNESVDVMDVIAICCPKYKDRPQIARVVQKTSSGFSVQWMAGSYSGSWTEAKRRDGRKLVPWVDTIKESDIIYKK
  IALTSANKLTNKVVQTLRSLYAAKDGTSS

• Structural information:
  • Interpro: IPR011989  IPR016024  IPR026003  IPR024986  IPR033031  
  • DIP: 29199
  • STRING: ENSP00000282516
• Other Databases: GeneCards:  NIPBL  Malacards:  NIPBL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990841	promoter-specific chromatin binding	ISS	molecular function
GO:0003682	chromatin binding	IBA	molecular function
GO:0007064	mitotic sister chromatid cohesion	IBA	biological process
GO:0007076	mitotic chromosome condensation	IBA	biological process
GO:0034087	establishment of mitotic sister chromatid cohesion	IBA	biological process
GO:0048703	embryonic viscerocranium morphogenesis	IBA	biological process
GO:0071733	transcriptional activation by promoter-enhancer looping	IBA	biological process
GO:1905406	positive regulation of mitotic cohesin loading	IBA	biological process
GO:0000228	nuclear chromosome	IBA	cellular component
GO:0000785	chromatin	IBA	cellular component
GO:0000790	nuclear chromatin	IBA	cellular component
GO:0003007	heart morphogenesis	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0006302	double-strand break repair	IBA	biological process
GO:0007420	brain development	IBA	biological process
GO:0048565	digestive tract development	IBA	biological process
GO:0070550	rDNA condensation	IBA	biological process
GO:0071169	establishment of protein localization to chromatin	IBA	biological process
GO:0090694	Scc2-Scc4 cohesin loading complex	IBA	cellular component
GO:1990414	replication-born double-strand break repair via sister chromatid exchange	IBA	biological process
GO:0071921	cohesin loading	IDA	biological process
GO:0032116	SMC loading complex	IDA	cellular component
GO:0090694	Scc2-Scc4 cohesin loading complex	IDA	cellular component
GO:0034088	maintenance of mitotic sister chromatid cohesion	IMP	biological process
GO:0032039	integrator complex	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2001224	positive regulation of neuron migration	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0010468	regulation of gene expression	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990841	promoter-specific chromatin binding	IEA	molecular function
GO:0071921	cohesin loading	IEA	biological process
GO:0048703	embryonic viscerocranium morphogenesis	IEA	biological process
GO:0048701	embryonic cranial skeleton morphogenesis	IEA	biological process
GO:0045778	positive regulation of ossification	IEA	biological process
GO:0045444	fat cell differentiation	IEA	biological process
GO:0040018	positive regulation of multicellular organism growth	IEA	biological process
GO:0032039	integrator complex	IEA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:2001224	positive regulation of neuron migration	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0036033	mediator complex binding	IEA	molecular function
GO:0019827	stem cell population maintenance	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000785	chromatin	IEA	cellular component
GO:0070087	chromo shadow domain binding	IPI	molecular function
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0001656	metanephros development	NAS	biological process
GO:0035136	forelimb morphogenesis	IMP	biological process
GO:0042471	ear morphogenesis	IMP	biological process
GO:0042634	regulation of hair cycle	IMP	biological process
GO:0060325	face morphogenesis	IMP	biological process
GO:0060325	face morphogenesis	IMP	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0031065	positive regulation of histone deacetylation	IDA	biological process
GO:0003007	heart morphogenesis	IMP	biological process
GO:0003151	outflow tract morphogenesis	IMP	biological process
GO:0007420	brain development	IMP	biological process
GO:0007605	sensory perception of sound	IMP	biological process
GO:0035115	embryonic forelimb morphogenesis	IMP	biological process
GO:0035115	embryonic forelimb morphogenesis	IMP	biological process
GO:0035261	external genitalia morphogenesis	IMP	biological process
GO:0035261	external genitalia morphogenesis	IMP	biological process
GO:0045995	regulation of embryonic development	IMP	biological process
GO:0048557	embryonic digestive tract morphogenesis	IMP	biological process
GO:0048557	embryonic digestive tract morphogenesis	IMP	biological process
GO:0048589	developmental growth	IMP	biological process
GO:0048592	eye morphogenesis	IMP	biological process
GO:0048638	regulation of developmental growth	IMP	biological process
GO:0050890	cognition	IMP	biological process
GO:0061010	gall bladder development	IMP	biological process
GO:0061038	uterus morphogenesis	IMP	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0047485	protein N-terminus binding	IPI	molecular function
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0034613	cellular protein localization	IMP	biological process
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0071481	cellular response to X-ray	IMP	biological process
GO:0007064	mitotic sister chromatid cohesion	IMP	biological process

Diseases

Associated diseases	References
Cornelia de Lange syndrome	KEGG:H00631
Cornelia de Lange syndrome	KEGG:H00631
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Oligozoospermia	MIK: 21989496
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
21989496	Oligozoospermia			11 (8 infertile and 3 fertile men)	Male infertility	Microarray