Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 170 (11 Dec 2019)
Sequence version 2 (19 Jul 2004)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Nipped-B-like protein

Gene

NIPBL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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).By similarity3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, Developmental protein
Biological processCell cycle, Transcription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2470946 Cohesin Loading onto Chromatin

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Nipped-B-like protein
Alternative name(s):
Delangin
SCC2 homolog
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NIPBL
Synonyms:IDN3, SCC21 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000164190.16

Human Gene Nomenclature Database

More...
HGNCi
HGNC:28862 NIPBL

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608667 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6KC79

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Chromosome, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Cornelia de Lange syndrome 1 (CDLS1)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07299615G → R in CDLS1; strongly inhibits interaction with SCC4. 2 Publications1
Natural variantiVAR_07299729P → Q in CDLS1; strongly inhibits interaction with SCC4. 1 Publication1
Natural variantiVAR_07299870N → I in CDLS1. 1 Publication1
Natural variantiVAR_07299973S → L in CDLS1; unknown pathological significance. 1 Publication1
Natural variantiVAR_073000111S → T in CDLS1; no effect on interaction with SCC4. 1 Publication1
Natural variantiVAR_073001179A → S in CDLS1; no effect on interaction with SCC4. 2 Publications1
Natural variantiVAR_073002179A → T in CDLS1; no effect on interaction with SCC4. 1 PublicationCorresponds to variant dbSNP:rs142923613EnsemblClinVar.1
Natural variantiVAR_073003192P → L in CDLS1; no effect on interaction with SCC4. 1 Publication1
Natural variantiVAR_073004246D → G in CDLS1; no effect on interaction with SCC4. 2 PublicationsCorresponds to variant dbSNP:rs587784042EnsemblClinVar.1
Natural variantiVAR_073005254L → V in CDLS1; no effect on interaction with SCC4. 1 Publication1
Natural variantiVAR_073006351P → T in CDLS1. 1 Publication1
Natural variantiVAR_073007357K → N in CDLS1. 1 Publication1
Natural variantiVAR_073008868R → Q in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs149629686EnsemblClinVar.1
Natural variantiVAR_0384131206Missing in CDLS1. 1 Publication1
Natural variantiVAR_0730091207E → K in CDLS1. 1 Publication1
Natural variantiVAR_0215981246A → G in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs121918268EnsemblClinVar.1
Natural variantiVAR_0195191311C → R in CDLS1. 1 Publication1
Natural variantiVAR_0215991312L → P in CDLS1. 1 Publication1
Natural variantiVAR_0730101343H → P in CDLS1. 1 Publication1
Natural variantiVAR_0195201348L → R in CDLS1. 1 Publication1
Natural variantiVAR_0730111441V → L in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs727503769EnsemblClinVar.1
Natural variantiVAR_0730121625V → F in CDLS1. 1 Publication1
Natural variantiVAR_0730131637I → L in CDLS1. 1 Publication1
Natural variantiVAR_0730141722N → H in CDLS1. 1 Publication1
Natural variantiVAR_0216001789R → L in CDLS1. 1 Publication1
Natural variantiVAR_0216011803D → V in CDLS1. 1 Publication1
Natural variantiVAR_0216021856R → T in CDLS1. 1 Publication1
Natural variantiVAR_0645441897Missing in CDLS1. 1 Publication1
Natural variantiVAR_0645452081G → A in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs587784000EnsemblClinVar.1
Natural variantiVAR_0645462090S → I in CDLS1. 1 Publication1
Natural variantiVAR_0730152091C → F in CDLS1. 1 Publication1
Natural variantiVAR_0645472150L → P in CDLS1. 1 Publication1
Natural variantiVAR_0730162218Missing in CDLS1. 1 Publication1
Natural variantiVAR_0216032298R → C in CDLS1. 2 PublicationsCorresponds to variant dbSNP:rs80358376EnsemblClinVar.1
Natural variantiVAR_0216042298R → H in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs587784024EnsemblClinVar.1
Natural variantiVAR_0216052312G → R in CDLS1. 1 Publication1
Natural variantiVAR_0730172312G → V in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs587784025EnsemblClinVar.1
Natural variantiVAR_0216062381G → A in CDLS1. 1 Publication1
Natural variantiVAR_0216072390A → T in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs587784036EnsemblClinVar.1
Natural variantiVAR_0195212430Y → C in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs121918265EnsemblClinVar.1
Natural variantiVAR_0730182433D → N in CDLS1. 1 Publication1
Natural variantiVAR_0216082440Y → H in CDLS1. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi1003V → A: Abolishes interaction with CBX3; when associated with A-1005. 2 Publications1
Mutagenesisi1003V → E: Abolishes interaction with CBX5; when associated with E-1005. 1 Publication1
Mutagenesisi1005L → A: Abolishes interaction with CBX3; when associated with A-1003. 1 Publication1
Mutagenesisi1005L → E: Abolishes interaction with CBX5; when associated with E-1003. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
25836

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
NIPBL

MalaCards human disease database

More...
MalaCardsi
NIPBL
MIMi122470 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000164190

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
329802 5p13 microduplication syndrome
199 Cornelia de Lange syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134962343

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q6KC79 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NIPBL

Domain mapping of disease mutations (DMDM)

More...
DMDMi
50400865

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002185961 – 2804Nipped-B-like proteinAdd BLAST2804

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei150PhosphoserineCombined sources1
Modified residuei162PhosphoserineCombined sources1
Modified residuei243PhosphoserineCombined sources1
Modified residuei256PhosphoserineCombined sources1
Modified residuei274PhosphoserineCombined sources1
Modified residuei280PhosphoserineCombined sources1
Modified residuei284PhosphoserineBy similarity1
Modified residuei301PhosphoserineBy similarity1
Modified residuei306PhosphoserineCombined sources1
Modified residuei318PhosphoserineCombined sources1
Modified residuei350PhosphoserineCombined sources1
Modified residuei713PhosphothreonineCombined sources1
Modified residuei746PhosphothreonineCombined sources1
Modified residuei912PhosphoserineCombined sources1
Modified residuei1082N6-acetyllysineBy similarity1
Modified residuei1089PhosphoserineCombined sources1
Modified residuei1090PhosphoserineCombined sources1
Modified residuei1096PhosphoserineCombined sources1
Modified residuei1150PhosphoserineCombined sources1
Modified residuei1152PhosphoserineCombined sources1
Modified residuei1154PhosphoserineCombined sources1
Modified residuei1159PhosphotyrosineBy similarity1
Modified residuei1160PhosphoserineCombined sources1
Modified residuei1189PhosphothreonineCombined sources1
Modified residuei1197PhosphoserineCombined sources1
Modified residuei2493PhosphoserineBy similarity1
Modified residuei2509PhosphoserineCombined sources1
Modified residuei2511PhosphoserineCombined sources1
Modified residuei2513PhosphoserineCombined sources1
Modified residuei2515PhosphoserineCombined sources1
Modified residuei2652PhosphoserineCombined sources1
Modified residuei2658PhosphoserineCombined sources1
Modified residuei2667PhosphothreonineCombined sources1
Modified residuei2672PhosphoserineCombined sources1
Isoform 2 (identifier: Q6KC79-2)
Modified residuei2667PhosphothreonineCombined sources1
Modified residuei2672PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q6KC79

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q6KC79

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q6KC79

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q6KC79

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q6KC79

PeptideAtlas

More...
PeptideAtlasi
Q6KC79

PRoteomics IDEntifications database

More...
PRIDEi
Q6KC79

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
66538 [Q6KC79-1]
66539 [Q6KC79-2]
66540 [Q6KC79-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6KC79

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q6KC79

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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.2 Publications

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

In embryos, it is expressed in developing limbs and later in cartilage primordia of the ulna and of various hand bones. Sites of craniofacial expression include the cartilage primordium of the basioccipital and basisphenoid skull bones and elsewhere in the head and face, including a region encompassing the mesenchyme adjacent to the cochlear canal. Also expressed in the spinal column, notochord and surface ectoderm sclerotome and what seem to be migrating myoblasts. Expressed in the developing heart in the atrial and ventricular myocardium and in the ventricular tubeculae but absent in the endocardial cushions. Also expressed in the developing esophagus, trachea and midgut loops, in the bronchi of the lung and in the tubules of the metanephros. Expression in organs and tissues not typically affected in CDL (e.g. the developing trachea, bronchi, esophagus, heart and kidney) may reflect a bias towards underreporting of more subtle aspects of the phenotype or problems that typically present later in life. Expressed in the mesenchyme surrounding the cochlear canal possibly reflecting the hearing impairment commonly found. Weakly or not expressed in embryonic brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000164190 Expressed in 222 organ(s), highest expression level in corpus callosum

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q6KC79 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6KC79 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA040834
HPA058239

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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).

By similarity7 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
Q9Y6X37EBI-722767,EBI-4395624

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
117363, 51 interactors

Database of interacting proteins

More...
DIPi
DIP-29199N

Protein interaction database and analysis system

More...
IntActi
Q6KC79, 21 interactors

Molecular INTeraction database

More...
MINTi
Q6KC79

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000282516

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q6KC79 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q6KC79

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati1767 – 1805HEAT 1Add BLAST39
Repeati1843 – 1881HEAT 2Add BLAST39
Repeati1945 – 1984HEAT 3Add BLAST40
Repeati2227 – 2267HEAT 4Add BLAST41
Repeati2313 – 2351HEAT 5Add BLAST39

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi996 – 1009PxVxL motif2 PublicationsAdd BLAST14

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi418 – 462Gln-richAdd BLAST45

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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.2 Publications
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.1 Publication

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the SCC2/Nipped-B family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1020 Eukaryota
ENOG410XP32 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000010427

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6KC79

KEGG Orthology (KO)

More...
KOi
K06672

Identification of Orthologs from Complete Genome Data

More...
OMAi
ITPQDIN

Database of Orthologous Groups

More...
OrthoDBi
7137at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6KC79

TreeFam database of animal gene trees

More...
TreeFami
TF313121

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.25.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR026003 Cohesin_HEAT
IPR024986 Nipped-B_C
IPR033031 SCC2/Nipped-B

The PANTHER Classification System

More...
PANTHERi
PTHR21704 PTHR21704, 2 hits

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF12765 Cohesin_HEAT, 1 hit
PF12830 Nipped-B_C, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48371 SSF48371, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6KC79-1) [UniParc]FASTAAdd to basket
Also known as: A, IDN3-A

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MNGDMPHVPI TTLAGIASLT DLLNQLPLPS PLPATTTKSL LFNARIAEEV
60 70 80 90 100
NCLLACRDDN LVSQLVHSLN QVSTDHIELK DNLGSDDPEG DIPVLLQAVL
110 120 130 140 150
ARSPNVFREK SMQNRYVQSG MMMSQYKLSQ NSMHSSPASS NYQQTTISHS
160 170 180 190 200
PSSRFVPPQT SSGNRFMPQQ NSPVPSPYAP QSPAGYMPYS HPSSYTTHPQ
210 220 230 240 250
MQQASVSSPI VAGGLRNIHD NKVSGPLSGN SANHHADNPR HGSSEDYLHM
260 270 280 290 300
VHRLSSDDGD SSTMRNAASF PLRSPQPVCS PAGSEGTPKG SRPPLILQSQ
310 320 330 340 350
SLPCSSPRDV PPDILLDSPE RKQKKQKKMK LGKDEKEQSE KAAMYDIISS
360 370 380 390 400
PSKDSTKLTL RLSRVRSSDM DQQEDMISGV ENSNVSENDI PFNVQYPGQT
410 420 430 440 450
SKTPITPQDI NRPLNAAQCL SQQEQTAFLP ANQVPVLQQN TSVAAKQPQT
460 470 480 490 500
SVVQNQQQIS QQGPIYDEVE LDALAEIERI ERESAIERER FSKEVQDKDK
510 520 530 540 550
PLKKRKQDSY PQEAGGATGG NRPASQETGS TGNGSRPALM VSIDLHQAGR
560 570 580 590 600
VDSQASITQD SDSIKKPEEI KQCNDAPVSV LQEDIVGSLK STPENHPETP
610 620 630 640 650
KKKSDPELSK SEMKQSESRL AESKPNENRL VETKSSENKL ETKVETQTEE
660 670 680 690 700
LKQNESRTTE CKQNESTIVE PKQNENRLSD TKPNDNKQNN GRSETTKSRP
710 720 730 740 750
ETPKQKGESR PETPKQKSDG HPETPKQKGD GRPETPKQKG ESRPETPKQK
760 770 780 790 800
NEGRPETPKH RHDNRRDSGK PSTEKKPEVS KHKQDTKSDS PRLKSERAEA
810 820 830 840 850
LKQRPDGRSV SESLRRDHDN KQKSDDRGES ERHRGDQSRV RRPETLRSSS
860 870 880 890 900
RNEHGIKSDS SKTDKLERKH RHESGDSRER PSSGEQKSRP DSPRVKQGDS
910 920 930 940 950
NKSRSDKLGF KSPTSKDDKR TEGNKSKVDT NKAHPDNKAE FPSYLLGGRS
960 970 980 990 1000
GALKNFVIPK IKRDKDGNVT QETKKMEMKG EPKDKVEKIG LVEDLNKGAK
1010 1020 1030 1040 1050
PVVVLQKLSL DDVQKLIKDR EDKSRSSLKP IKNKPSKSNK GSIDQSVLKE
1060 1070 1080 1090 1100
LPPELLAEIE STMPLCERVK MNKRKRSTVN EKPKYAEISS DEDNDSDEAF
1110 1120 1130 1140 1150
ESSRKRHKKD DDKAWEYEER DRRSSGDHRR SGHSHEGRRS SGGGRYRNRS
1160 1170 1180 1190 1200
PSDSDMEDYS PPPSLSEVAR KMKKKEKQKK RKAYEPKLTP EEMMDSSTFK
1210 1220 1230 1240 1250
RFTASIENIL DNLEDMDFTA FGDDDEIPQE LLLGKHQLNE LGSESAKIKA
1260 1270 1280 1290 1300
MGIMDKLSTD KTVKVLNILE KNIQDGSKLS TLLNHNNDTE EEERLWRDLI
1310 1320 1330 1340 1350
MERVTKSADA CLTTINIMTS PNMPKAVYIE DVIERVIQYT KFHLQNTLYP
1360 1370 1380 1390 1400
QYDPVYRLDP HGGGLLSSKA KRAKCSTHKQ RVIVMLYNKV CDIVSSLSEL
1410 1420 1430 1440 1450
LEIQLLTDTT ILQVSSMGIT PFFVENVSEL QLCAIKLVTA VFSRYEKHRQ
1460 1470 1480 1490 1500
LILEEIFTSL ARLPTSKRSL RNFRLNSSDM DGEPMYIQMV TALVLQLIQC
1510 1520 1530 1540 1550
VVHLPSSEKD SNAEEDSNKK IDQDVVITNS YETAMRTAQN FLSIFLKKCG
1560 1570 1580 1590 1600
SKQGEEDYRP LFENFVQDLL STVNKPEWPA AELLLSLLGR LLVHQFSNKS
1610 1620 1630 1640 1650
TEMALRVASL DYLGTVAARL RKDAVTSKMD QGSIERILKQ VSGGEDEIQQ
1660 1670 1680 1690 1700
LQKALLDYLD ENTETDPSLV FSRKFYIAQW FRDTTLETEK AMKSQKDEES
1710 1720 1730 1740 1750
SEGTHHAKEI ETTGQIMHRA ENRKKFLRSI IKTTPSQFST LKMNSDTVDY
1760 1770 1780 1790 1800
DDACLIVRYL ASMRPFAQSF DIYLTQILRV LGENAIAVRT KAMKCLSEVV
1810 1820 1830 1840 1850
AVDPSILARL DMQRGVHGRL MDNSTSVREA AVELLGRFVL CRPQLAEQYY
1860 1870 1880 1890 1900
DMLIERILDT GISVRKRVIK ILRDICIEQP TFPKITEMCV KMIRRVNDEE
1910 1920 1930 1940 1950
GIKKLVNETF QKLWFTPTPH NDKEAMTRKI LNITDVVAAC RDTGYDWFEQ
1960 1970 1980 1990 2000
LLQNLLKSEE DSSYKPVKKA CTQLVDNLVE HILKYEESLA DSDNKGVNSG
2010 2020 2030 2040 2050
RLVACITTLF LFSKIRPQLM VKHAMTMQPY LTTKCSTQND FMVICNVAKI
2060 2070 2080 2090 2100
LELVVPLMEH PSETFLATIE EDLMKLIIKY GMTVVQHCVS CLGAVVNKVT
2110 2120 2130 2140 2150
QNFKFVWACF NRYYGAISKL KSQHQEDPNN TSLLTNKPAL LRSLFTVGAL
2160 2170 2180 2190 2200
CRHFDFDLED FKGNSKVNIK DKVLELLMYF TKHSDEEVQT KAIIGLGFAF
2210 2220 2230 2240 2250
IQHPSLMFEQ EVKNLYNNIL SDKNSSVNLK IQVLKNLQTY LQEEDTRMQQ
2260 2270 2280 2290 2300
ADRDWKKVAK QEDLKEMGDV SSGMSSSIMQ LYLKQVLEAF FHTQSSVRHF
2310 2320 2330 2340 2350
ALNVIALTLN QGLIHPVQCV PYLIAMGTDP EPAMRNKADQ QLVEIDKKYA
2360 2370 2380 2390 2400
GFIHMKAVAG MKMSYQVQQA INTCLKDPVR GFRQDESSSA LCSHLYSMIR
2410 2420 2430 2440 2450
GNRQHRRAFL ISLLNLFDDT AKTDVTMLLY IADNLACFPY QTQEEPLFIM
2460 2470 2480 2490 2500
HHIDITLSVS GSNLLQSFKE SMVKDKRKER KSSPSKENES SDSEEEVSRP
2510 2520 2530 2540 2550
RKSRKRVDSD SDSDSEDDIN SVMKCLPENS APLIEFANVS QGILLLLMLK
2560 2570 2580 2590 2600
QHLKNLCGFS DSKIQKYSPS ESAKVYDKAI NRKTGVHFHP KQTLDFLRSD
2610 2620 2630 2640 2650
MANSKITEEV KRSIVKQYLD FKLLMEHLDP DEEEEEGEVS ASTNARNKAI
2660 2670 2680 2690 2700
TSLLGGGSPK NNTAAETEDD ESDGEDRGGG TSGSLRRSKR NSDSTELAAQ
2710 2720 2730 2740 2750
MNESVDVMDV IAICCPKYKD RPQIARVVQK TSSGFSVQWM AGSYSGSWTE
2760 2770 2780 2790 2800
AKRRDGRKLV PWVDTIKESD IIYKKIALTS ANKLTNKVVQ TLRSLYAAKD

GTSS
Length:2,804
Mass (Da):316,051
Last modified:July 19, 2004 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iC275425DF53058A3
GO
Isoform 2 (identifier: Q6KC79-2) [UniParc]FASTAAdd to basket
Also known as: B, IDN3-B

The sequence of this isoform differs from the canonical sequence as follows:
     2684-2697: SLRRSKRNSDSTEL → VRRRRSQRISQRIT
     2698-2804: Missing.

Show »
Length:2,697
Mass (Da):304,344
Checksum:i42207C9622A3C01D
GO
Isoform 3 (identifier: Q6KC79-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1102-2804: Missing.

Show »
Length:1,101
Mass (Da):122,367
Checksum:i0344321AFFE6ACFA
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A590UJS4A0A590UJS4_HUMAN
Nipped-B protein
NIPBL
2,649Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y8M3H0Y8M3_HUMAN
Nipped-B-like protein
NIPBL
150Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH33847 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA77335 differs from that shown. Chimeric cDNA.Curated
The sequence BAA77349 differs from that shown. Chimeric cDNA.Curated
The sequence BAC86701 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAE45790 differs from that shown. Reason: Frameshift.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti318S → F (PubMed:14702039).Curated1
Sequence conflicti548A → T in CAD98051 (PubMed:17974005).Curated1
Sequence conflicti548A → T in CAD98052 (PubMed:17974005).Curated1
Sequence conflicti574N → S in CAD98051 (PubMed:17974005).Curated1
Sequence conflicti574N → S in CAD98052 (PubMed:17974005).Curated1
Sequence conflicti648T → I in CAD98051 (PubMed:17974005).Curated1
Sequence conflicti648T → I in CAD98052 (PubMed:17974005).Curated1
Sequence conflicti1172M → K in CAD98051 (PubMed:17974005).Curated1
Sequence conflicti1172M → K in CAD98052 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07299615G → R in CDLS1; strongly inhibits interaction with SCC4. 2 Publications1
Natural variantiVAR_07299729P → Q in CDLS1; strongly inhibits interaction with SCC4. 1 Publication1
Natural variantiVAR_07299870N → I in CDLS1. 1 Publication1
Natural variantiVAR_07299973S → L in CDLS1; unknown pathological significance. 1 Publication1
Natural variantiVAR_073000111S → T in CDLS1; no effect on interaction with SCC4. 1 Publication1
Natural variantiVAR_019518135S → N. Corresponds to variant dbSNP:rs3822471EnsemblClinVar.1
Natural variantiVAR_073001179A → S in CDLS1; no effect on interaction with SCC4. 2 Publications1
Natural variantiVAR_073002179A → T in CDLS1; no effect on interaction with SCC4. 1 PublicationCorresponds to variant dbSNP:rs142923613EnsemblClinVar.1
Natural variantiVAR_073003192P → L in CDLS1; no effect on interaction with SCC4. 1 Publication1
Natural variantiVAR_073004246D → G in CDLS1; no effect on interaction with SCC4. 2 PublicationsCorresponds to variant dbSNP:rs587784042EnsemblClinVar.1
Natural variantiVAR_073005254L → V in CDLS1; no effect on interaction with SCC4. 1 Publication1
Natural variantiVAR_038411261S → A. Corresponds to variant dbSNP:rs16903425EnsemblClinVar.1
Natural variantiVAR_073006351P → T in CDLS1. 1 Publication1
Natural variantiVAR_073007357K → N in CDLS1. 1 Publication1
Natural variantiVAR_038412384N → S. Corresponds to variant dbSNP:rs2291703EnsemblClinVar.1
Natural variantiVAR_021596674N → S1 PublicationCorresponds to variant dbSNP:rs3822471EnsemblClinVar.1
Natural variantiVAR_073008868R → Q in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs149629686EnsemblClinVar.1
Natural variantiVAR_0215971206I → V1 PublicationCorresponds to variant dbSNP:rs587783929EnsemblClinVar.1
Natural variantiVAR_0384131206Missing in CDLS1. 1 Publication1
Natural variantiVAR_0730091207E → K in CDLS1. 1 Publication1
Natural variantiVAR_0215981246A → G in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs121918268EnsemblClinVar.1
Natural variantiVAR_0195191311C → R in CDLS1. 1 Publication1
Natural variantiVAR_0215991312L → P in CDLS1. 1 Publication1
Natural variantiVAR_0730101343H → P in CDLS1. 1 Publication1
Natural variantiVAR_0195201348L → R in CDLS1. 1 Publication1
Natural variantiVAR_0730111441V → L in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs727503769EnsemblClinVar.1
Natural variantiVAR_0730121625V → F in CDLS1. 1 Publication1
Natural variantiVAR_0730131637I → L in CDLS1. 1 Publication1
Natural variantiVAR_0361641647E → K in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0730141722N → H in CDLS1. 1 Publication1
Natural variantiVAR_0216001789R → L in CDLS1. 1 Publication1
Natural variantiVAR_0216011803D → V in CDLS1. 1 Publication1
Natural variantiVAR_0216021856R → T in CDLS1. 1 Publication1
Natural variantiVAR_0645441897Missing in CDLS1. 1 Publication1
Natural variantiVAR_0645452081G → A in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs587784000EnsemblClinVar.1
Natural variantiVAR_0645462090S → I in CDLS1. 1 Publication1
Natural variantiVAR_0730152091C → F in CDLS1. 1 Publication1
Natural variantiVAR_0645472150L → P in CDLS1. 1 Publication1
Natural variantiVAR_0730162218Missing in CDLS1. 1 Publication1
Natural variantiVAR_0216032298R → C in CDLS1. 2 PublicationsCorresponds to variant dbSNP:rs80358376EnsemblClinVar.1
Natural variantiVAR_0216042298R → H in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs587784024EnsemblClinVar.1
Natural variantiVAR_0216052312G → R in CDLS1. 1 Publication1
Natural variantiVAR_0730172312G → V in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs587784025EnsemblClinVar.1
Natural variantiVAR_0216062381G → A in CDLS1. 1 Publication1
Natural variantiVAR_0216072390A → T in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs587784036EnsemblClinVar.1
Natural variantiVAR_0195212430Y → C in CDLS1. 1 PublicationCorresponds to variant dbSNP:rs121918265EnsemblClinVar.1
Natural variantiVAR_0730182433D → N in CDLS1. 1 Publication1
Natural variantiVAR_0216082440Y → H in CDLS1. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0110911102 – 2804Missing in isoform 3. 1 PublicationAdd BLAST1703
Alternative sequenceiVSP_0110922684 – 2697SLRRS…DSTEL → VRRRRSQRISQRIT in isoform 2. 3 PublicationsAdd BLAST14
Alternative sequenceiVSP_0110932698 – 2804Missing in isoform 2. 3 PublicationsAdd BLAST107

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AJ627032 mRNA Translation: CAF25290.1
AJ640137 mRNA Translation: CAG26691.1
BX538177 mRNA Translation: CAD98051.1
BX538178 mRNA Translation: CAD98052.1
BX640644 mRNA Translation: CAE45790.1 Frameshift.
AK126804 mRNA Translation: BAC86701.1 Different initiation.
AB019494 mRNA Translation: BAA77335.1 Sequence problems.
AB019602 mRNA Translation: BAA77349.1 Sequence problems.
BC033847 mRNA Translation: AAH33847.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3920.1 [Q6KC79-1]
CCDS47198.1 [Q6KC79-2]

NCBI Reference Sequences

More...
RefSeqi
NP_056199.2, NM_015384.4 [Q6KC79-2]
NP_597677.2, NM_133433.3 [Q6KC79-1]
XP_016864819.1, XM_017009330.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000282516; ENSP00000282516; ENSG00000164190 [Q6KC79-1]
ENST00000448238; ENSP00000406266; ENSG00000164190 [Q6KC79-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
25836

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:25836

UCSC genome browser

More...
UCSCi
uc003jkk.5 human [Q6KC79-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ627032 mRNA Translation: CAF25290.1
AJ640137 mRNA Translation: CAG26691.1
BX538177 mRNA Translation: CAD98051.1
BX538178 mRNA Translation: CAD98052.1
BX640644 mRNA Translation: CAE45790.1 Frameshift.
AK126804 mRNA Translation: BAC86701.1 Different initiation.
AB019494 mRNA Translation: BAA77335.1 Sequence problems.
AB019602 mRNA Translation: BAA77349.1 Sequence problems.
BC033847 mRNA Translation: AAH33847.1 Different initiation.
CCDSiCCDS3920.1 [Q6KC79-1]
CCDS47198.1 [Q6KC79-2]
RefSeqiNP_056199.2, NM_015384.4 [Q6KC79-2]
NP_597677.2, NM_133433.3 [Q6KC79-1]
XP_016864819.1, XM_017009330.1

3D structure databases

SMRiQ6KC79
ModBaseiSearch...

Protein-protein interaction databases

BioGridi117363, 51 interactors
DIPiDIP-29199N
IntActiQ6KC79, 21 interactors
MINTiQ6KC79
STRINGi9606.ENSP00000282516

PTM databases

iPTMnetiQ6KC79
PhosphoSitePlusiQ6KC79

Polymorphism and mutation databases

BioMutaiNIPBL
DMDMi50400865

Proteomic databases

EPDiQ6KC79
jPOSTiQ6KC79
MassIVEiQ6KC79
MaxQBiQ6KC79
PaxDbiQ6KC79
PeptideAtlasiQ6KC79
PRIDEiQ6KC79
ProteomicsDBi66538 [Q6KC79-1]
66539 [Q6KC79-2]
66540 [Q6KC79-3]

Genome annotation databases

EnsembliENST00000282516; ENSP00000282516; ENSG00000164190 [Q6KC79-1]
ENST00000448238; ENSP00000406266; ENSG00000164190 [Q6KC79-2]
GeneIDi25836
KEGGihsa:25836
UCSCiuc003jkk.5 human [Q6KC79-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
25836
DisGeNETi25836
EuPathDBiHostDB:ENSG00000164190.16

GeneCards: human genes, protein and diseases

More...
GeneCardsi
NIPBL
GeneReviewsiNIPBL
HGNCiHGNC:28862 NIPBL
HPAiHPA040834
HPA058239
MalaCardsiNIPBL
MIMi122470 phenotype
608667 gene
neXtProtiNX_Q6KC79
OpenTargetsiENSG00000164190
Orphaneti329802 5p13 microduplication syndrome
199 Cornelia de Lange syndrome
PharmGKBiPA134962343

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1020 Eukaryota
ENOG410XP32 LUCA
GeneTreeiENSGT00390000010427
InParanoidiQ6KC79
KOiK06672
OMAiITPQDIN
OrthoDBi7137at2759
PhylomeDBiQ6KC79
TreeFamiTF313121

Enzyme and pathway databases

ReactomeiR-HSA-2470946 Cohesin Loading onto Chromatin

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
NIPBL human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
NIPBL

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
25836
PharosiQ6KC79 Tbio

Protein Ontology

More...
PROi
PR:Q6KC79
RNActiQ6KC79 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000164190 Expressed in 222 organ(s), highest expression level in corpus callosum
ExpressionAtlasiQ6KC79 baseline and differential
GenevisibleiQ6KC79 HS

Family and domain databases

Gene3Di1.25.10.10, 1 hit
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR026003 Cohesin_HEAT
IPR024986 Nipped-B_C
IPR033031 SCC2/Nipped-B
PANTHERiPTHR21704 PTHR21704, 2 hits
PfamiView protein in Pfam
PF12765 Cohesin_HEAT, 1 hit
PF12830 Nipped-B_C, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNIPBL_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q6KC79
Secondary accession number(s): Q6KCD6
, Q6N080, Q6ZT92, Q7Z2E6, Q8N4M5, Q9Y6Y3, Q9Y6Y4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: July 19, 2004
Last modified: December 11, 2019
This is version 170 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again