NIPBL - NIPBL cohesin loading factor Gene

Also Known as CDLS; IDN3; Scc2; CDLS1; IDN3-B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 25836

About NIPBL

Cytogenetic location: 5p13.2 Genomic coordinates (GRCh38): 5:36,876,769-37,066,413 (from NCBI)

This gene has 9 transcripts (splice variants), 230 orthologues and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 7.3), bone marrow (RPKM 7.1) and 25 other tissues.

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]

NIPBL Products (2)

mRNA	Protein	Name
NM_015384.5	NP_056199.2	nipped-B-like protein isoform B
NM_133433.4	NP_597677.2	nipped-B-like protein isoform A

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables chromo shadow domain binding	IPI IPI: Inferred from physical interaction	15882967	GOA
enables cohesin loader activity	IMP IMP: Inferred from mutant phenotype	22628566	GOA
enables histone deacetylase binding	IPI IPI: Inferred from physical interaction	18854353	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16682347	GOA
enables transcription corepressor activity	IDA IDA: Inferred from direct assay	18854353	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA damage response	IMP IMP: Inferred from mutant phenotype	17468178	GOA
involved in brain development	IMP IMP: Inferred from mutant phenotype	8291537	GOA
involved in cellular response to X-ray	IMP IMP: Inferred from mutant phenotype	17468178	GOA
involved in chromatin remodeling	IDA IDA: Inferred from direct assay	18854353	GOA
involved in cognition	IMP IMP: Inferred from mutant phenotype	15146186	GOA
involved in developmental growth	IMP IMP: Inferred from mutant phenotype	15146186	GOA
involved in ear morphogenesis	IMP IMP: Inferred from mutant phenotype	8291537	GOA
involved in embryonic digestive tract morphogenesis	IMP IMP: Inferred from mutant phenotype	8291537	GOA
involved in embryonic forelimb morphogenesis	IMP IMP: Inferred from mutant phenotype	8291537	GOA
involved in external genitalia morphogenesis	IMP IMP: Inferred from mutant phenotype	15146186	GOA
involved in eye morphogenesis	IMP IMP: Inferred from mutant phenotype	8291537	GOA
involved in face morphogenesis	IMP IMP: Inferred from mutant phenotype	15146186	GOA
involved in forelimb morphogenesis	IMP IMP: Inferred from mutant phenotype	15146186	GOA
involved in gallbladder development	IMP IMP: Inferred from mutant phenotype	19242925	GOA
involved in heart morphogenesis	IMP IMP: Inferred from mutant phenotype	8291537	GOA
involved in maintenance of mitotic sister chromatid cohesion	IMP IMP: Inferred from mutant phenotype	16682347	GOA
involved in mitotic sister chromatid cohesion	IDA IDA: Inferred from direct assay	22628566	GOA
involved in mitotic sister chromatid cohesion	IMP IMP: Inferred from mutant phenotype	16100726	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	18854353	GOA
involved in outflow tract morphogenesis	IMP IMP: Inferred from mutant phenotype	19242925	GOA
involved in protein localization	IMP IMP: Inferred from mutant phenotype	17468178	GOA
involved in regulation of developmental growth	IMP IMP: Inferred from mutant phenotype	19242925	GOA
involved in regulation of embryonic development	IMP IMP: Inferred from mutant phenotype	19242925	GOA
involved in regulation of hair cycle	IMP IMP: Inferred from mutant phenotype	15146186	GOA
involved in sensory perception of sound	IMP IMP: Inferred from mutant phenotype	15146186	GOA
involved in uterus morphogenesis	IMP IMP: Inferred from mutant phenotype	19242925	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of SMC loading complex	IDA IDA: Inferred from direct assay	16682347	GOA
part of Scc2-Scc4 cohesin loading complex	IDA IDA: Inferred from direct assay	22628566	GOA
located in nucleus	IDA IDA: Inferred from direct assay	16802858	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NIPBL Protein Structure

Cohesin_HEAT

Nipped-B_C

0
500
1000
1500
2000
2500
2804 a.a.

Protein Preferred Names	Protein Names
nipped-B-like protein	Nipped-B homolog

NIPBL Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NIPBL	Q6KC79	MAU2	Homo sapiens	Q9Y6X3	Y2H	21934712

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Cornelia De Lange Syndrome 1	De Lange Syndrome CDLS1 Cdl Cdls Typus Degenerativus Amstelodamensis Brachmann-De Lange Syndrome Bdls Amstelodamensis Typus Degenerativus Cornelia De Lange Syndrome, Type 1
Cornelia De Lange Syndrome	De Lange Syndrome Brachmann De Lange Syndrome Brachmann-De Lange Syndrome Cdls Bdls Typus Degenerativus Amstelodamensis
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Chromosome 5p13 Duplication Syndrome	5p13 Microduplication Syndrome Trisomy 5p13 Dup(5)(P13)
Plagiocephaly	Asymmetric Head Lateral Curvatures Of Skull Unequal Unicoronal Synostosis
Diaphragmatic Hernia, Congenital	Congenital Diaphragmatic Hernia Diaphragmatic Hernia Cdh Congenital Diaphragmatic Defect Hernia, Diaphragmatic Dih Hernia, Congenital Diaphragmatic Hcd Diaphragmatic Defect, Congenital Diaphragm, Unilateral Agenesis Of Hemidiaphragm, Agenesis Of Diaphragmatic Hernia 1 Agenesis Of Hemidiaphragm Unilateral Agenesis Of Diaphragm Hernia Diaphragmatic Hernia Diaphragmatic Congenital Hernia, Diaphragmatic, Type 1 Hiatus Hernia Oesophageal Hiatus Hernia Paraoesophageal Hernia Sliding Hiatus Hernia Congenital Diaphragm Hernia Congenital Diaphragm Defect With Hernia Gross Congenital Diaphragm Defect
Vesicoureteral Reflux	Vesico-Ureteral Reflux
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism Undescended Testicle Undescended Testis Cryptorchism Undescended Testicles CRYPTO Impaired Testicular Descent Cryptosporidiosis Retained Testis Unilateral Cryptorchidism Unilateral Undescended Testis Nondescent Unilateral Testicle Unilateral Cryptorchism Ectopic Testis, Unilateral Bilateral Cryptorchidism Bilateral Cryptorchism Bilateral Nondescent Testicle Bilateral Undescended Testes Bilateral Ectopic Testes
Brachydactyly
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	GDACCF Developmental Disabilities
Familial Isolated Trichomegaly	Long Eyelashes Tcmgly
Cornelia De Lange Syndrome 2	CDLS2 Cornelia De Lange Syndrome, X-Linked Cdls, X-Linked Cornelia De Lange Syndrome X-Linked Cornelia De Lange Syndrome, Type 2 Congenital Muscular Hypertrophy-Cerebral Syndrome
Roberts-Sc Phocomelia Syndrome	Roberts Syndrome Sc Phocomelia Syndrome RBS Long Bone Deficiencies Associated With Cleft Lip-Palate Sc Pseudothalidomide Syndrome Appelt-Gerken-Lenz Syndrome Pseudothalidomide Syndrome Tetraphocomelia-Cleft Palate Syndrome Hypomelia Hypotrichosis Facial Hemangioma Syndrome Roberts Syndrome/Sc Phocomelia Roberts Tetraphocomelia Syndrome Sc Syndrome Sc Phocomelia Sc Disease Sc Hemoglobin Sc Disease
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Cornelia De Lange Syndrome 3 CDLS3 Cornelia De Lange Syndrome, Type 3
Spinocerebellar Ataxia 44	SCA44
Partial Trisomy Distal 4q	Distal Trisomy 4q Chromosome 4, Partial Trisomy 4q Distal 4q Trisomy Dup Syndrome, Partial Duplication 4q Syndrome, Partial Partial Trisomy 4q Syndrome Distal Duplication 4q Telomeric Duplication 4q Trisomy 4qter
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Cornelia De Lange Syndrome 4 CDLS4 Cornelia De Lange Syndrome, Type 4
Chronic Atrial And Intestinal Dysrhythmia	CAID Caid Syndrome Cohesinopathy Affecting Heart And Gut Rhythm Chronic Atrial Intestinal Dysrhythmia Syndrome Chronic Atrial And Intestinal Dysrhythmia Syndrome Chronic Atrial Dysrhythmia-Intestinal Motility Disorder Dysrhythmia, Atrial And Intestinal, Chronic
Severe Congenital Neutropenia 2	Scn2
Eyelid Disease	Eyelid Diseases Eyelid Disorders
Kbg Syndrome	KBGS Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome
Warsaw Breakage Syndrome	WABS WBRS
Non-Syndromic X-Linked Intellectual Disability 107	Mrx107 X-Linked Mental Retardation 107
Diaphragm Disease	Abnormality Of The Diaphragm Disease Of Diaphragm Diaphragmatic Disorder Disorder Of Diaphragm
Linear Skin Defects With Multiple Congenital Anomalies 1	Midas Syndrome Mcops7 Mls Syndrome Microphthalmia, Syndromic 7 Microphthalmia With Linear Skin Defects Syndrome Microphthalmia With Linear Skin Defects Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome Syndromic Microphthalmia Type 7 LSDMCA1 Mls Microphthalmia, Dermal Aplasia, And Sclerocornea Microphthalmia With Linear Skin Defect Syndrome Syndromic Microphthalmia 7 Linear Skin Defects With Multiple Congenital Anomalies Microphthalmia, Dermal Aplasia, Sclerocornea Syndrome Microphthalmia Dermal Aplasia And Sclerocornea Syndrome Micropthalmia Syndromic 7 Microphthalmia Syndromic 7 Microphthalmia With Linear Skin Lesions Syndrome Syndromic Microphthalmia-7 Microphthalmia, Dermal Aplasia And Sclerocornea Microphthalmia, Syndromic, 7 Midas
Chromosome 16p13.3 Deletion Syndrome, Proximal	Rubinstein-Taybi Syndrome Broad Thumb-Hallux Syndrome Chromosome 16p13.3 Deletion Syndrome Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion Rubinstein Syndrome Broad Thumbs-Halluces Syndrome Rsts Rubinstein-Taybi Deletion Syndrome Rsts Deletion Syndrome Proximal Chromosome 16p13.3 Deletion Syndrome 16p13.3 Deletion Syndrome Broad Thumbs And Great Toes, Characteristic Facies, And Intellectual Disability Rts
Glass Syndrome	Chromosome 2q32-Q33 Deletion Syndrome Satb2-Associated Syndrome 2q33.1 Microdeletion Syndrome Sas 2q32-Q33 Microdeletion Syndrome 2q32q33 Microdeletion Syndrome Monosomy 2q32 Monosomy 2q32-Q33 Monosomy 2q32q33 2q32 Deletion Syndrome Del(2)(Q32) Del(2)(Q32q33) GLASS 2q32q33 Microdeletion Syndromes Satb2 Syndrome Satb2-Associated Syndrome Due To A Chromosomal Rearrangement Del(2)(Q33.1) Monosomy 2q33.1 Satb2-Associated Syndrome Due To A Pathogenic Variant Satb2-Associated Syndrome Due To A Point Mutation Satb2 Associated Disorder
Autosomal Dominant Intellectual Developmental Disorder 31	Autosomal Dominant Non-Syndromic Intellectual Disability 31 Autosomal Dominant Mental Retardation 31 Mrd31
Noonan Syndrome 1	Noonan Syndrome NS1 Male Turner Syndrome Female Pseudo-Turner Syndrome Turner Phenotype With Normal Karyotype Noonan Syndrome With Pigmented Villonodular Synovitis Turner'S Phenotype, Karyotype Normal Familial Turner Syndrome Noonan'S Syndrome Noonan-Ehmke Syndrome Ns Pseudo-Ullrich-Turner Syndrome Turner Syndrome In Female With X Chromosome Turner-Like Syndrome Ullrich-Noonan Syndrome Noonan-Like/Multiple Giant Cell Lesion Syndrome Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions Pterygium Colli Syndrome Noonan Syndrome, Type 1 Turner Syndrome, Male
Bjornstad Syndrome	BJS Pili Torti And Nerve Deafness Ptd Pili Torti-Deafness Syndrome Deafness-Pili Torti-Hypogonadism Syndrome Deafness And Pili Torti, Bjornstad Type Pili Torti-Sensorineural Hearing Loss Björnstad Syndrome Ptnd Hearing Loss-Pili Torti-Hypogonadism Syndrome Bjoernstad Syndrome
Trichorhinophalangeal Syndrome, Type Ii	Langer-Giedion Syndrome Lgs Trichorhinophalangeal Syndrome Type Ii Trichorhinophalangeal Syndrome Type 2 TRPS2 Monosomy 8q24.1 Chromosome 8q24.1 Deletion Syndrome Deletion 8q24.1 Giedion-Langer Syndrome Trichorhinophalangeal Dysplasia Type Ii Langer Giedion Syndrome Trps 2 Tricho-Rhino-Phalangeal Syndrome Type Ii Trichorhinophalangeal Syndrome With Exostosis Trps Ii Tricho-Rhino-Phalangeal Syndrome 2 8q24.1 Microdeletion Syndrome 8q24.1 Deletion Syndrome
Diaphragmatic Eventration
Autosomal Dominant Intellectual Developmental Disorder	Autosomal Dominant Mental Retardation Autosomal Dominant Non-Syndromic Mental Retardation Autosomal Dominant Non-Syndromic Intellectual Disability Mental Retardation, Autosomal Dominant
Hypertrichosis
Atrial Heart Septal Defect	Atrial Septal Defect Atrial Septal Defects Atrioseptal Defect Auricular Septal Defect Congenital Atrial Septal Defect Interatrial Septal Defect Interauricular Septal Defect Heart Septal Defects, Atrial Septal Defect, Atrial
Orofacial Cleft	Cleft, Orofacial
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Alpha-Thalassemia	Alpha Thalassemia Alpha Thalassaemia Alpha Plus Thalassemia Thalassemia, Alpha- Thalassemias, Alpha- A-Thalassemia Α-Thalassemia A-THAL Thalassemia Alpha Thalassaemia Syndrome
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09305	NIPBL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21000	Nipbl Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27517	Nipbl Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	NIPBL	MGD	MGI:1913976
Rattus norvegicus	NIPBL	RGD	RGD:1306393
Canis familiaris	NIPBL	VGNC	VGNC:43819
Macaca mulatta	NIPBL	VGNC	VGNC:75271
Felis catus	NIPBL	VGNC	VGNC:63810
Bos taurus	NIPBL	VGNC	VGNC:32085