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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, ch... See more...
Aliases for NIPBL Gene
Aliases for NIPBL Gene
External Ids for NIPBL Gene
- HGNC: 28862
- Entrez Gene: 25836
- Ensembl: ENSG00000164190
- OMIM: 608667
- UniProtKB: Q6KC79
Previous GeneCards Identifiers for NIPBL Gene
- GC05P036912
Summaries for NIPBL Gene
-
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]
GeneCards Summary for NIPBL Gene
NIPBL (NIPBL Cohesin Loading Factor) is a Protein Coding gene. Diseases associated with NIPBL include Cornelia De Lange Syndrome 1 and Cornelia De Lange Syndrome. Among its related pathways are Mitotic Telophase/Cytokinesis and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include chromatin binding and protein C-terminus binding.
UniProtKB/Swiss-Prot Summary for NIPBL Gene
-
Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with MAU2/SCC4 which mediates the loading of the cohesin complex onto chromatin (PubMed:22628566, PubMed:28914604). Plays a role in cohesin loading at sites of DNA damage. Its recruitment to double-strand breaks (DSBs) sites occurs in a CBX3-, RNF8- and RNF168-dependent manner whereas its recruitment to UV irradiation-induced DNA damage sites occurs in a ATM-, ATR-, RNF8- and RNF168-dependent manner (PubMed:28167679). Along with ZNF609, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others (By similarity).
Additional gene information for NIPBL Gene
- HGNC(28862)
- Entrez Gene(25836)
- Ensembl(ENSG00000164190)
- OMIM(608667)
- UniProtKB(Q6KC79)
- Open Targets Platform(ENSG00000164190)
- Monarch Initiative
- Search for NIPBL at DataMed
- Search for NIPBL at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NIPBL Gene
Genomics for NIPBL Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for NIPBL Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around NIPBL on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NIPBL
- Top Transcription factor binding sites by QIAGEN in the NIPBL gene promoter:
-
- AP-2gamma
- C/EBPalpha
- CHOP-10
- Egr-4
- FOXO3
- FOXO3a
- Hlf
- MAZR
Genomic Locations for NIPBL Gene
Genomic Locations for NIPBL Gene
- chr5:36,876,769-37,066,413
- (GRCh38/hg38)
- Size:
- 189,645 bases
- Orientation:
- Plus strand
- chr5:36,876,861-37,066,515
- (GRCh37/hg19)
- Size:
- 189,655 bases
- Orientation:
- Plus strand
Genomic View for NIPBL Gene
Genes around NIPBL on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5p13.2 by HGNC
- 5p13.2 by Entrez Gene
- 5p13.2 by Ensembl
NIPBL Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for NIPBL Gene
Proteins for NIPBL Gene
-
Protein details for NIPBL Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6KC79-NIPBL_HUMAN
- Recommended name:
- Nipped-B-like protein
- Protein Accession:
- Q6KC79
- Q6KCD6
- Q6N080
- Q6ZT92
- Q7Z2E6
- Q8N4M5
- Q9Y6Y3
- Q9Y6Y4
Protein attributes for NIPBL Gene
- Size:
- 2804 amino acids
- Molecular mass:
- 316051 Da
- Quaternary structure:
-
- Heterodimerizes with MAU2/SCC4 to form the cohesin loading complex (PubMed:16682347, PubMed:16802858, PubMed:21934712, PubMed:28167679, PubMed:22628566). The NIPBL-MAU2 heterodimer interacts with the SMC1A-SMC3 heterodimer and with the cohesin complex composed of SMC1A, SMC3, RAD21 and STAG1 (PubMed:22628566). Interacts directly (via PxVxL motif) with CBX5 (PubMed:15882967, PubMed:20562864). Interacts with ZNF609 (via N-terminus) (By similarity). Interacts with the multiprotein complex Integrator (By similarity). Interacts (via PxVxL motif) with CBX3 (PubMed:28167679).
- SequenceCaution:
-
- Sequence=AAH33847.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA77335.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305}; Sequence=BAA77349.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305}; Sequence=BAC86701.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAE45790.1; Type=Frameshift; Evidence={ECO:0000305};
Protein Expression for NIPBL Gene
Post-translational modifications for NIPBL Gene
Other Protein References for NIPBL Gene
Antibody Products
- LifeSpan BioSciences IDN3 / NIPBL Monoclonal Antibody (LS-B7393) and IDN3 / NIPBL Monoclonal Antibody (LS-B12814)
-
Custom Antibody ServicesOriGene Antibodies for NIPBL
- Novus Biologicals Antibodies for NIPBL
-
Abcam antibodies for NIPBL
- Invitrogen Antibodies for NIPBL (AFLGC-NIPBL)
- antibodies-online: Show 14 available NIPBL Antibodies ranked by validation data
- Compare Top NIPBL Antibodies
-
Recommended
- 25 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 2 IHC Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 1 IF Antibody (anti-human)
- 1 IP Antibody (anti-human)
- 18 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 12 IF (p) Antibodies (anti-rat)
- 8 WB Antibodies (anti-rat)
-
Boster Bio Antibodies for NIPBL
-
Santa Cruz Biotechnology (SCBT) Antibodies for NIPBL
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for NIPBL
- Origene Custom Protein Services for NIPBL
- Novus Biologicals proteins for NIPBL
-
Signalway Proteins for NIPBL
-
Abcam proteins for NIPBL
No data available for DME Specific Peptides for NIPBL Gene
Domains & Families for NIPBL Gene
Gene Families for NIPBL Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for NIPBL Gene
- InterPro:
- Blocks:
-
- HEAT repeat
- ProtoNet:
Suggested Antigen Peptide Sequences for NIPBL Gene
- GenScript: Design optimal peptide antigens:
-
- NIPBL protein (A2RRA7_HUMAN)
- NIPBL protein (A6QL62_HUMAN)
- SCC2 homolog (NIPBL_HUMAN)
- Transcriptional regulator (Q6IEH8_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q6KC79UniProtKB/Swiss-Prot:
NIPBL_HUMAN :- Contains one Pro-Xaa-Val-Xaa-Leu (PxVxL) motif, which is required for interaction with chromoshadow domains. This motif requires additional residues -7, -6, +4 and +5 of the central Val which contact the chromoshadow domain.
- Belongs to the SCC2/Nipped-B family.
- Domain:
-
- Contains one Pro-Xaa-Val-Xaa-Leu (PxVxL) motif, which is required for interaction with chromoshadow domains. This motif requires additional residues -7, -6, +4 and +5 of the central Val which contact the chromoshadow domain.
- The C-terminal region containing HEAT repeats and Pro-Xaa-Val-Xaa-Leu (PxVxL) motif are involved in the recruitment of NIPBL to sites of DNA damage.
- Family:
-
- Belongs to the SCC2/Nipped-B family.
Function for NIPBL Gene
Molecular function for NIPBL Gene
- UniProtKB/Swiss-Prot Function:
- Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with MAU2/SCC4 which mediates the loading of the cohesin complex onto chromatin (PubMed:22628566, PubMed:28914604). Plays a role in cohesin loading at sites of DNA damage. Its recruitment to double-strand breaks (DSBs) sites occurs in a CBX3-, RNF8- and RNF168-dependent manner whereas its recruitment to UV irradiation-induced DNA damage sites occurs in a ATM-, ATR-, RNF8- and RNF168-dependent manner (PubMed:28167679). Along with ZNF609, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others (By similarity).
Phenotypes From GWAS Catalog for NIPBL Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003682 | chromatin binding | IEA,IBA | 21873635 |
| GO:0005515 | protein binding | IPI | 16682347 |
| GO:0008022 | protein C-terminus binding | IPI | 17577209 |
| GO:0036033 | mediator complex binding | IEA | -- |
| GO:0042826 | histone deacetylase binding | IPI | 18854353 |
Phenotypes for NIPBL Gene
- MGI mutant phenotypes for NIPBL:
-
inferred from 3 alleles
- nervous system phenotype
- immune system phenotype
- normal phenotype
- cardiovascular system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- growth/size/body region phenotype
- vision/eye phenotype
- limbs/digits/tail phenotype
- hearing/vestibular/ear phenotype
- skeleton phenotype
- embryo phenotype
- craniofacial phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for NIPBL:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Increased IL-8 secretion
- Strongly decreased CFP-tsO45G cell surface transport
- Increased NF-kappaB reporter expression
- Increased ionizing radiation sensitivity
- Increased Nanog expression
- Decreased viability after ionizing radiation
Animal Models for NIPBL Gene
- MGI Knock Outs for NIPBL:
-
- Nipbl Nipbl<tm1.2Hpt>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NIPBL - Select products 50% OFF >
- * NIPBL CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for NIPBL
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NIPBL
-
Santa Cruz Biotechnology (SCBT) CRISPR for NIPBL
miRNA for NIPBL Gene
- miRTarBase miRNAs that target NIPBL
-
- hsa-miR-210-3p (MIRT003175)
- hsa-miR-421 (MIRT016135)
- hsa-miR-21-5p (MIRT030681)
- hsa-let-7b-5p (MIRT032211)
- hsa-miR-18a-3p (MIRT040938)
- hsa-miR-30b-5p (MIRT046116)
- hsa-miR-183-5p (MIRT047113)
- hsa-let-7a-5p (MIRT052641)
- hsa-miR-136-5p (MIRT440107)
- hsa-miR-369-3p (MIRT440109)
- hsa-miR-4738-5p (MIRT441498)
- hsa-miR-3936 (MIRT441499)
- hsa-let-7c-3p (MIRT712878)
- hsa-miR-6842-3p (MIRT712879)
- hsa-miR-647 (MIRT712880)
- hsa-miR-6762-3p (MIRT712881)
- hsa-miR-4666b (MIRT712882)
- hsa-miR-604 (MIRT712883)
- hsa-miR-664a-3p (MIRT712884)
- hsa-miR-4760-3p (MIRT712885)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NIPBL
- Browse OriGene Inhibitory RNA Products For NIPBL
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NIPBL
Clone Products
- Applied Biological Materials (abm): Clones for NIPBL - Select products 50% OFF >
- * NIPBL as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NIPBL
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NIPBL Gene
Localization for NIPBL Gene
Subcellular locations from UniProtKB/Swiss-Prot for NIPBL Gene
- Nucleus. Chromosome.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| extracellular | 4 |
| cytosol | 4 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
- Nucleoplasm (3)
- Cytosol (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000228 | nuclear chromosome | IBA | 21873635 |
| GO:0000785 | chromatin | IBA | 21873635 |
| GO:0000790 | nuclear chromatin | IBA | 21873635 |
| GO:0005634 | nucleus | IEA,IDA | 16802858 |
| GO:0005654 | nucleoplasm | TAS | -- |
Pathways & Interactions for NIPBL Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cell Cycle, Mitotic |
.83
|
.60
|
| 2 | Mitotic Telophase/Cytokinesis | ||
Pathways by source for NIPBL Gene
5 Reactome pathways for NIPBL Gene
Interacting Proteins for NIPBL Gene
Selected Interacting proteins:
Q6KC79-NIPBL_HUMAN
ENSP00000282516
for NIPBL Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for NIPBL
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 18854353 |
| GO:0001656 | metanephros development | NAS | 15146185 |
| GO:0003007 | heart morphogenesis | IBA,IMP | 8291537 |
| GO:0003151 | outflow tract morphogenesis | IMP | 19242925 |
| GO:0006302 | double-strand break repair | IBA | 21873635 |
No data available for SIGNOR curated interactions for NIPBL Gene
Transcripts for NIPBL Gene
mRNA/cDNA for NIPBL Gene
- 2 REFSEQ mRNAs :
- 26 NCBI additional mRNA sequence :
- 9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000282516 10425 nts (view in UCSC)
- ENST00000448238 8729 nts (view in UCSC)
- ENST00000503274 789 nts (view in UCSC)
- ENST00000504430 3455 nts (view in UCSC)
- ENST00000505998 969 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NIPBL - Select products 50% OFF >
- * NIPBL CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for NIPBL
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NIPBL
-
Santa Cruz Biotechnology (SCBT) CRISPR for NIPBL
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NIPBL
- Browse OriGene Inhibitory RNA Products For NIPBL
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NIPBL
Clone Products
- Applied Biological Materials (abm): Clones for NIPBL - Select products 50% OFF >
- * NIPBL as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NIPBL
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: |
| ExUns: | 26 | ^ | 27a | · | 27b | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36 | ^ | 37 | ^ | 38 | ^ | 39 | ^ | 40a | · | 40b | ^ | 41 | ^ | 42a | · | 42b | ^ | 43 | ^ | 44 | ^ | 45a | · | 45b | · | 45c | ^ | 46 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: |
| ExUns: | 47a | · | 47b | · | 47c | ^ | 48a | · | 48b |
|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||
| SP2: | |||||||||
| SP3: | |||||||||
| SP4: | - | ||||||||
| SP5: | |||||||||
| SP6: | |||||||||
| SP7: | |||||||||
| SP8: |
Relevant External Links for NIPBL Gene
- GeneLoc Exon Structure for
- NIPBL
Expression for NIPBL Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Bone (Muscoskeletal System)
- Prechondrocytic Mesenchymal Cells Vertebral Body
- Osteochondro Mesenchymal Cells Vertebrae
-
Cartilage (Muscoskeletal System)
- Prechondrocytic Mesenchymal Cells Vertebral Body
- Osteochondro Mesenchymal Cells Vertebrae
- Somite (Muscoskeletal System)
- Brain (Nervous System)
- Head Mesenchyme (Muscoskeletal System)
- Neural Tube (Nervous System)
- Blood (Hematopoietic System)
This gene is overexpressed in Peripheral blood mononuclear cells (25.4) and Esophagus (12.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NIPBL Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NIPBL
SOURCE GeneReport for Unigene cluster for NIPBL Gene:
Hs.481927mRNA Expression by UniProt/SwissProt for NIPBL Gene:
Q6KC79-NIPBL_HUMAN
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 brain, colon, spleen and lung.
Evidence on tissue expression from TISSUES for NIPBL Gene
- Nervous system(4.7)
- Liver(4.5)
- Blood(3)
- Skin(2.7)
- Kidney(2.5)
- Heart(2.5)
- Muscle(2.3)
- Spleen(2.3)
- Lung(2.3)
- Intestine(2.3)
- Lymph node(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for NIPBL Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- inner ear
- jaw
- larynx
- lip
- mandible
- maxilla
- middle ear
- mouth
- neck
- nose
- outer ear
- pharynx
- scalp
- skull
- tooth
- vocal cord
Thorax:
- breast
- chest wall
- clavicle
- diaphragm
- esophagus
- heart
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- abdominal wall
- intestine
- kidney
- large intestine
- liver
- small intestine
- stomach
Pelvis:
- pelvis
- penis
- testicle
- ureter
- urethra
- urinary bladder
- uterus
- vulva
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- coagulation system
- hair
- peripheral nervous system
- skin
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for NIPBL
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues for NIPBL Gene
Orthologs for NIPBL Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | NIPBL 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | NIPBL 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | NIPBL 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Nipbl 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Rat (Rattus norvegicus) |
Mammalia | Nipbl 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | NIPBL 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| LOC427439 30 |
|
||||
| Lizard (Anolis carolinensis) |
Reptilia | NIPBL 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | nipbl 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | nipbla 31 |
|
OneToMany | |
| nipblb 30 31 |
|
OneToMany | |||
| NIPBL (2 of 3) 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Nipped-B 30 31 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009290 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | pqn-85 31 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SCC2 31 33 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9744 31 |
|
OneToOne |
- Species where no ortholog for NIPBL was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for NIPBL Gene
- ENSEMBL:
- Gene Tree for NIPBL (if available)
- TreeFam:
- Gene Tree for NIPBL (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for NIPBL: view image
Paralogs for NIPBL Gene
No data available for Paralogs for NIPBL Gene
Variants for NIPBL Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NIPBL Gene
| SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 619126 | Uncertain Significance: Cornelia de Lange syndrome 1 | 37,006,368(+) | TGAA/T | INFRAME_DELETION | |
| 636327 | Uncertain Significance: Cornelia de Lange syndrome 1 | 37,006,424(+) | C/A | MISSENSE_VARIANT | |
| 638052 | Uncertain Significance: Cornelia de Lange syndrome 1 | 36,986,248(+) | A/G | MISSENSE_VARIANT | |
| 642705 | Pathogenic: Cornelia de Lange syndrome 1 | 36,955,642(+) | G/A | INTRON_VARIANT | |
| 644755 | Uncertain Significance: Cornelia de Lange syndrome 1 | 37,048,609(+) | G/A | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv5632n100 | CNV | loss | 25217958 |
| dgv5633n100 | CNV | loss | 25217958 |
| esv2525217 | CNV | deletion | 19546169 |
| esv3570072 | CNV | loss | 25503493 |
| esv3570073 | CNV | loss | 25503493 |
| esv3570074 | CNV | loss | 25503493 |
| nsv1033562 | CNV | loss | 25217958 |
| nsv1033928 | CNV | loss | 25217958 |
| nsv1161231 | CNV | deletion | 26073780 |
| nsv525478 | CNV | loss | 19592680 |
| nsv597822 | CNV | loss | 21841781 |
| nsv830264 | CNV | loss | 17160897 |
| nsv964843 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
0.41% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.46;
71.57% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for NIPBL Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NIPBL Gene
Disorders for NIPBL Gene
(32) MalaCards diseases for NIPBL Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cornelia de lange syndrome 1 |
|
|
| cornelia de lange syndrome |
|
|
| cleft palate, isolated |
|
|
| tetralogy of fallot |
|
|
| microcephaly |
|
|
Search NIPBL in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
NIPBL_HUMAN- Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. {ECO:0000269 PubMed:15146185, ECO:0000269 PubMed:15146186, ECO:0000269 PubMed:15318302, ECO:0000269 PubMed:20124326, ECO:0000269 PubMed:20358602, ECO:0000269 PubMed:21934712, ECO:0000269 PubMed:23254390, ECO:0000269 PubMed:25447906, ECO:0000269 PubMed:28167679}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for NIPBL
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for NIPBL Gene
Publications for NIPBL Gene
- Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. (PMID: 20358602) Pié J … Ramos FJ (American journal of medical genetics. Part A 2010) 3 4 23 41
- Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations. (PMID: 20124326) Park HD … Kim JK (Annals of clinical and laboratory science 2010) 3 4 23
- Metazoan Scc4 homologs link sister chromatid cohesion to cell and axon migration guidance. (PMID: 16802858) Seitan VC … Strachan T (PLoS biology 2006) 3 4 23
- NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. (PMID: 15146185) Tonkin ET … Strachan T (Nature genetics 2004) 2 3 4
- Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. (PMID: 15146186) Krantz ID … Jackson LG (Nature genetics 2004) 2 3 4
ExternalLinks
Products for NIPBL Gene
- Custom Antibody ServicesOriGene Antibodies for NIPBL
- Browse OriGene ELISA Kits
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- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for NIPBL
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- Invitrogen Antibodies for NIPBL (AFLGC-NIPBL)
- VectorBuilder Custom and pre-made DNA vectors for NIPBL (ie. gene expression, shRNA knockdown, CRISPR)
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- VectorBuilder CRISPR vectors for NIPBL (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for NIPBL CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for NIPBL
- antibodies-online: Show 14 available NIPBL Antibodies ranked by validation data
- Compare Top NIPBL Antibodies
- Recommended
- 25 WB Antibodies (anti-human)
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- 1 IHC Antibody (anti-mouse)
- 12 IF (p) Antibodies (anti-rat)
- 8 WB Antibodies (anti-rat)
- antibodies-online: Search results for available NIPBL related products ranked by validation data
- antibodies-online: Show 2 available NIPBL Proteins ranked by validation data
- Compare Top NIPBL Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for NIPBL
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- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NIPBL
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NIPBL
- Boster Bio Antibodies for NIPBL
- Browse Boster Bio ELISA Kits
- Signalway Proteins for NIPBL
Sources for NIPBL Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
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- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
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- (109) Disease Ontology
- (110) Genetics Home Reference
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- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
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