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UniProtKB - Q6KC79 (NIPBL_HUMAN)

Entry version 179 (02 Jun 2021)
Sequence version 2 (19 Jul 2004)
Previous versions | rss
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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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q6KC79

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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

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

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000164190.16

<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

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 variants 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; benign variant; 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 PublicationCorresponds to variant dbSNP:rs121918266Ensembl.1
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%5Fand%5Fbiotech%5Fsection">'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 variant, 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

Genetic variation 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 or proteolytic cleavage.<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 ventricular zone and 233 other tissues

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		ENSG00000164190, Low tissue specificity

<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%5Fsection">'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%5Fsection">'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%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		117363, 117 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...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni128 – 340DisorderedSequence analysisAdd BLAST213
Regioni482 – 946DisorderedSequence analysisAdd BLAST465
Regioni1017 – 1047DisorderedSequence analysisAdd BLAST31
Regioni1060 – 1191DisorderedSequence analysisAdd BLAST132
Regioni1691 – 1710DisorderedSequence analysisAdd BLAST20
Regioni2473 – 2520DisorderedSequence analysisAdd BLAST48
Regioni2651 – 2696DisorderedSequence analysisAdd BLAST46

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 type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi128 – 172Polar residuesSequence analysisAdd BLAST45
Compositional biasi187 – 210Polar residuesSequence analysisAdd BLAST24
Compositional biasi223 – 237Polar residuesSequence analysisAdd BLAST15
Compositional biasi238 – 259Basic and acidic residuesSequence analysisAdd BLAST22
Compositional biasi314 – 340Basic and acidic residuesSequence analysisAdd BLAST27
Compositional biasi482 – 510Basic and acidic residuesSequence analysisAdd BLAST29
Compositional biasi519 – 537Polar residuesSequence analysisAdd BLAST19
Compositional biasi595 – 659Basic and acidic residuesSequence analysisAdd BLAST65
Compositional biasi660 – 674Polar residuesSequence analysisAdd BLAST15
Compositional biasi692 – 936Basic and acidic residuesSequence analysisAdd BLAST245
Compositional biasi1031 – 1045Polar residuesSequence analysisAdd BLAST15
Compositional biasi1067 – 1090Basic and acidic residuesSequence analysisAdd BLAST24
Compositional biasi1098 – 1143Basic and acidic residuesSequence analysisAdd BLAST46
Compositional biasi2676 – 2693Basic and acidic residuesSequence analysisAdd BLAST18

<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

Ensembl GeneTree

More...GeneTreei		ENSGT00390000010427

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000763_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q6KC79

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%5Flength">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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:rs1390490298Ensembl.1
Natural variantiVAR_073001179A → S in CDLS1; no effect on interaction with SCC4. 2 Publications1
Natural variantiVAR_073002179A → T in CDLS1; benign variant; 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 PublicationCorresponds to variant dbSNP:rs121918266Ensembl.1
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

<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

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6WG3electron microscopy5.30E1163-2804[»]
6WGEelectron microscopy3.90E1163-2804[»]
SMRiQ6KC79
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi117363, 117 interactors
DIPiDIP-29199N
IntActiQ6KC79, 21 interactors
MINTiQ6KC79
STRINGi9606.ENSP00000282516

PTM databases

iPTMnetiQ6KC79
PhosphoSitePlusiQ6KC79

Genetic variation databases

BioMutaiNIPBL
DMDMi50400865

Proteomic databases

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

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		10283, 180 antibodies

The CPTC Antibody Portal

More...CPTCi		Q6KC79, 1 antibody

The DNASU plasmid repository

More...DNASUi		25836

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

GeneCards: human genes, protein and diseases

More...GeneCardsi		NIPBL
GeneReviewsiNIPBL
HGNCiHGNC:28862, NIPBL
HPAiENSG00000164190, Low tissue specificity
MalaCardsiNIPBL
MIMi122470, phenotype
608667, gene
neXtProtiNX_Q6KC79
OpenTargetsiENSG00000164190
Orphaneti329802, 5p13 microduplication syndrome
199, Cornelia de Lange syndrome
PharmGKBiPA134962343
VEuPathDBiHostDB:ENSG00000164190.16

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1020, Eukaryota
GeneTreeiENSGT00390000010427
HOGENOMiCLU_000763_0_0_1
InParanoidiQ6KC79
OMAiITPQDIN
OrthoDBi7137at2759
PhylomeDBiQ6KC79
TreeFamiTF313121

Enzyme and pathway databases

PathwayCommonsiQ6KC79
ReactomeiR-HSA-2470946, Cohesin Loading onto Chromatin

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		25836, 253 hits in 1003 CRISPR screens

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 ventricular zone and 233 other tissues
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

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%5Fand%5Fisoforms">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: June 2, 2021
This is version 179 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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