Fields »
ABOUT
HELP
BLOG
NIPBL

GENERAL INFORMATION

Gene name

 NIPBL

Gene description

 Nipped-B homolog (Drosophila)

Protein class

 Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 4
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Nuclear expression in a majority of the tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA040834
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Heart muscle

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 NIPBL (HGNC Symbol)

Synonyms

 DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, IDN3, Scc2

Description

 Nipped-B homolog (Drosophila) (HGNC Symbol)

Entrez gene 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 mental retardation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Chromosome

 5

Cytoband

 p13.2

Chromosome location (bp)

 36876759 - 37066413

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000164190 (version 83.38)

Entrez gene

 25836

UniProt

 Q6KC79 (UniProt - Evidence at protein level)

neXtProt

 NX_Q6KC79

Antibodypedia

 NIPBL antibodies

PROTEIN BROWSER
NIPBL-001
NIPBL-002
NIPBL-008
NIPBL-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
NIPBL-001
ENSP00000282516
ENST00000282516
Q6KC79 [Direct mapping]
Nipped-B-like protein
Show all
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000278 [mitotic cell cycle]
GO:0000785 [chromatin]
GO:0001656 [metanephros development]
GO:0003007 [heart morphogenesis]
GO:0003151 [outflow tract morphogenesis]
GO:0003682 [chromatin binding]
GO:0005488 [binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0007064 [mitotic sister chromatid cohesion]
GO:0007420 [brain development]
GO:0007507 [heart development]
GO:0007605 [sensory perception of sound]
GO:0008022 [protein C-terminus binding]
GO:0019827 [stem cell population maintenance]
GO:0031065 [positive regulation of histone deacetylation]
GO:0032116 [SMC loading complex]
GO:0034088 [maintenance of mitotic sister chromatid cohesion]
GO:0034613 [cellular protein localization]
GO:0035115 [embryonic forelimb morphogenesis]
GO:0035136 [forelimb morphogenesis]
GO:0035261 [external genitalia morphogenesis]
GO:0036033 [mediator complex binding]
GO:0040018 [positive regulation of multicellular organism growth]
GO:0042471 [ear morphogenesis]
GO:0042634 [regulation of hair cycle]
GO:0042826 [histone deacetylase binding]
GO:0045444 [fat cell differentiation]
GO:0045778 [positive regulation of ossification]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0045995 [regulation of embryonic development]
GO:0047485 [protein N-terminus binding]
GO:0048557 [embryonic digestive tract morphogenesis]
GO:0048589 [developmental growth]
GO:0048592 [eye morphogenesis]
GO:0048638 [regulation of developmental growth]
GO:0048701 [embryonic cranial skeleton morphogenesis]
GO:0048703 [embryonic viscerocranium morphogenesis]
GO:0050890 [cognition]
GO:0060325 [face morphogenesis]
GO:0061010 [gall bladder development]
GO:0061038 [uterus morphogenesis]
GO:0070062 [extracellular exosome]
GO:0070087 [chromo shadow domain binding]
GO:0071481 [cellular response to X-ray]
Show all
 2804 aa
316 kDa 		No 0
NIPBL-002
ENSP00000406266
ENST00000448238
Q6KC79 [Direct mapping]
Nipped-B-like protein
Show all
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000278 [mitotic cell cycle]
GO:0001656 [metanephros development]
GO:0003007 [heart morphogenesis]
GO:0003151 [outflow tract morphogenesis]
GO:0005488 [binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0007064 [mitotic sister chromatid cohesion]
GO:0007420 [brain development]
GO:0007605 [sensory perception of sound]
GO:0008022 [protein C-terminus binding]
GO:0031065 [positive regulation of histone deacetylation]
GO:0032116 [SMC loading complex]
GO:0034088 [maintenance of mitotic sister chromatid cohesion]
GO:0034613 [cellular protein localization]
GO:0035115 [embryonic forelimb morphogenesis]
GO:0035136 [forelimb morphogenesis]
GO:0035261 [external genitalia morphogenesis]
GO:0042471 [ear morphogenesis]
GO:0042634 [regulation of hair cycle]
GO:0042826 [histone deacetylase binding]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0045995 [regulation of embryonic development]
GO:0047485 [protein N-terminus binding]
GO:0048557 [embryonic digestive tract morphogenesis]
GO:0048589 [developmental growth]
GO:0048592 [eye morphogenesis]
GO:0048638 [regulation of developmental growth]
GO:0050890 [cognition]
GO:0060325 [face morphogenesis]
GO:0061010 [gall bladder development]
GO:0061038 [uterus morphogenesis]
GO:0070062 [extracellular exosome]
GO:0070087 [chromo shadow domain binding]
GO:0071481 [cellular response to X-ray]
Show all
 2697 aa
304.3 kDa 		No 0
NIPBL-008
ENSP00000421504
ENST00000513819
H0Y8M3 [Direct mapping]
Nipped-B-like protein
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 151 aa
17.3 kDa 		No 0
NIPBL-201
ENSP00000480694
ENST00000621733
A2RRA7 [Direct mapping]
NIPBL protein; Nipped-B-like protein
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 104 aa
11.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.