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UniProtKB - O00712 (NFIB_HUMAN)

Entry version 181 (12 Aug 2020)
Sequence version 2 (15 Mar 2004)
Previous versions | rss
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Protein

Nuclear factor 1 B-type

Gene

NFIB

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

Transcriptional activator of GFAP, essential for proper brain development (PubMed:30388402). Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi1 – 195CTF/NF-IPROSITE-ProRule annotationAdd BLAST195

<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, DNA-binding
Biological processDNA replication, Transcription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O00712

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-73980, RNA Polymerase III Transcription Termination
R-HSA-749476, RNA Polymerase III Abortive And Retractive Initiation

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		O00712

SIGNOR Signaling Network Open Resource

More...SIGNORi		O00712

<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:
Nuclear factor 1 B-type
Short name:
NF1-B
Short name:
Nuclear factor 1/B
Alternative name(s):
CCAAT-box-binding transcription factor
Short name:
CTF
Nuclear factor I/B
Short name:
NF-I/B
Short name:
NFI-B
TGGCA-binding protein
<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:NFIB
<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 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000147862.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:7785, NFIB

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600728, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O00712

<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

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

Macrocephaly, acquired, with impaired intellectual development (MACID)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by postnatal macrocephaly and borderline to mild mental retardation. Additional variable neurodevelopmental features include muscular hypotonia, motor and speech delay, attention deficit disorder, autism spectrum disorder, and behavioral abnormalities. Some patients present corpus callosum dysgenesis.
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_08185937 – 420Missing in MACID. 1 PublicationAdd BLAST384
Natural variantiVAR_08186089 – 420Missing in MACID. 1 PublicationAdd BLAST332
Natural variantiVAR_081861114K → T in MACID; significant decrease of GFAP transcriptional activation. 1 PublicationCorresponds to variant dbSNP:rs1554709683EnsemblClinVar.1
Natural variantiVAR_081862126K → E in MACID; significant decrease of GFAP transcriptional activation. 1 PublicationCorresponds to variant dbSNP:rs1554709662EnsemblClinVar.1
Natural variantiVAR_081863132L → P in MACID; significant decrease of GFAP transcriptional activation. 1 PublicationCorresponds to variant dbSNP:rs1554709654EnsemblClinVar.1
Natural variantiVAR_081864356S → L in MACID; likely benign variant; does not affect GFAP transcriptional activation. 1 PublicationCorresponds to variant dbSNP:rs1554639196EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		4781

MalaCards human disease database

More...MalaCardsi		NFIB
MIMi618286, phenotype

Open Targets

More...OpenTargetsi		ENSG00000147862

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA31591

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O00712, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		NFIB

<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_00001001951 – 420Nuclear factor 1 B-typeAdd BLAST420

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 residuei264PhosphoserineCombined sources1
Modified residuei286PhosphothreonineBy similarity1
Modified residuei292PhosphoserineCombined sources1
Modified residuei295PhosphoserineCombined sources1
Modified residuei312PhosphoserineCombined sources1
Modified residuei328PhosphoserineCombined sources1
Modified residuei333PhosphoserineCombined sources1
Modified residuei335Asymmetric dimethylarginineBy similarity1
Modified residuei388Asymmetric dimethylarginineBy similarity1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O00712

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O00712

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O00712

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

More...PaxDbi		O00712

PeptideAtlas

More...PeptideAtlasi		O00712

PRoteomics IDEntifications database

More...PRIDEi		O00712

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		32394
43594
48006 [O00712-1]
48007 [O00712-2]
65511

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O00712

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

More...PhosphoSitePlusi		O00712

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000147862, Expressed in cerebral cortex and 259 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O00712, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O00712, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000147862, 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

Binds DNA as a homodimer.

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		110853, 18 interactors

Database of interacting proteins

More...DIPi		DIP-61433N

Protein interaction database and analysis system

More...IntActi		O00712, 8 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000370340

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O00712, protein

<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

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>Motifi397 – 4059aaTAD1 Publication9

<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

The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.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 CTF/NF-I family.PROSITE-ProRule annotation

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3663, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00950000182916

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_061490_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O00712

KEGG Orthology (KO)

More...KOi		K09169

Database for complete collections of gene phylogenies

More...PhylomeDBi		O00712

TreeFam database of animal gene trees

More...TreeFami		TF313889

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000647, CTF/NFI
IPR020604, CTF/NFI_DNA-bd-dom
IPR019739, CTF/NFI_DNA-bd_CS
IPR019548, CTF/NFI_DNA-bd_N
IPR003619, MAD_homology1_Dwarfin-type

The PANTHER Classification System

More...PANTHERi		PTHR11492, PTHR11492, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00859, CTF_NFI, 1 hit
PF03165, MH1, 1 hit
PF10524, NfI_DNAbd_pre-N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00523, DWA, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00349, CTF_NFI_1, 1 hit
PS51080, CTF_NFI_2, 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 (6+)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 6 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 6 described isoforms and 17 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O00712-1) [UniParc]FASTAAdd to basket

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
MMYSPICLTQ DEFHPFIEAL LPHVRAIAYT WFNLQARKRK YFKKHEKRMS 
        60         70         80         90        100
KDEERAVKDE LLSEKPEIKQ KWASRLLAKL RKDIRQEYRE DFVLTVTGKK 
       110        120        130        140        150
HPCCVLSNPD QKGKIRRIDC LRQADKVWRL DLVMVILFKG IPLESTDGER 
       160        170        180        190        200
LMKSPHCTNP ALCVQPHHIT VSVKELDLFL AYYVQEQDSG QSGSPSHNDP 
       210        220        230        240        250
AKNPPGYLED SFVKSGVFNV SELVRVSRTP ITQGTGVNFP IGEIPSQPYY 
       260        270        280        290        300
HDMNSGVNLQ RSLSSPPSSK RPKTISIDEN MEPSPTGDFY PSPSSPAAGS 
       310        320        330        340        350
RTWHERDQDM SSPTTMKKPE KPLFSSASPQ DSSPRLSTFP QHHHPGIPGV 
       360        370        380        390        400
AHSVISTRTP PPPSPLPFPT QAILPPAPSS YFSHPTIRYP PHLNPQDTLK 
       410        420
NYVPSYDPSS PQTSQSWYLG
Length:420
Mass (Da):47,442
Last modified:March 15, 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:i0F71635FE9D64FA4
GO
Isoform 2 (identifier: O00712-3)
Sequence is not available
Length:–
Mass (Da):–
Isoform 3 (identifier: O00712-2) [UniParc]FASTAAdd to basket
Also known as: NFI-B3

The sequence of this isoform differs from the canonical sequence as follows:
     187-188: QD → AR
     189-420: Missing.

Show »
Length:188
Mass (Da):22,251
Checksum:iC718698597C13336
GO
Isoform 4 (identifier: O00712-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-10: MMYSPICLTQ → MERIPVSVDFWVVCCAVLKCNPGIPMERIPVSVDFWVVCCAVLKCNPGIPKRMSTLCFGFS

Show »
Length:471
Mass (Da):53,049
Checksum:iD2797FFB1527C066
GO
Isoform 5 (identifier: O00712-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     416-416: S → PNGSGQVVGK...DPSFLHQQQS

Show »
Length:494
Mass (Da):55,181
Checksum:i55BE3377EEEA2C07
GO
Isoform 6 (identifier: O00712-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-252: Missing.
     416-420: SWYLG → PNGSGQVVGK...EPFLQAETSN

Show »
Length:309
Mass (Da):33,525
Checksum:i8DA70FF7F8A8CEEF
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 17 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5VW26Q5VW26_HUMAN
Nuclear factor 1
NFIB hCG_1742080
570Annotation score:

Annotation score:3 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>
A0A0A0MRX8A0A0A0MRX8_HUMAN
Nuclear factor 1
NFIB
446Annotation score:

Annotation score:3 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>
Q5VW27Q5VW27_HUMAN
Nuclear factor 1
NFIB hCG_1742080
487Annotation score:

Annotation score:3 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>
U3KQE8U3KQE8_HUMAN
Nuclear factor 1
NFIB
416Annotation score:

Annotation score:3 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>
Q5VW30Q5VW30_HUMAN
Nuclear factor 1
NFIB hCG_1742080
561Annotation score:

Annotation score:3 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>
A0A1B0GU97A0A1B0GU97_HUMAN
Nuclear factor 1
NFIB
478Annotation score:

Annotation score:3 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>
A0A1B0GW37A0A1B0GW37_HUMAN
Nuclear factor 1
NFIB
411Annotation score:

Annotation score:3 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>
A0A1B0GWI9A0A1B0GWI9_HUMAN
Nuclear factor 1
NFIB
480Annotation score:

Annotation score:3 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>
A0A1B0GWJ4A0A1B0GWJ4_HUMAN
Nuclear factor 1
NFIB
445Annotation score:

Annotation score:3 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>
A0A2R8Y7V8A0A2R8Y7V8_HUMAN
Nuclear factor 1
NFIB
566Annotation 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>
There are more potential isoformsShow all

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 conflicti17I → M in AAB41899 (PubMed:9484777).Curated1
Sequence conflicti37R → G in BAD18416 (PubMed:14702039).Curated1
Sequence conflicti74S → F in BX648845 (PubMed:17974005).Curated1
Sequence conflicti198N → S in BAD18416 (PubMed:14702039).Curated1
Sequence conflicti284S → R in BX648845 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08185937 – 420Missing in MACID. 1 PublicationAdd BLAST384
Natural variantiVAR_08186089 – 420Missing in MACID. 1 PublicationAdd BLAST332
Natural variantiVAR_081861114K → T in MACID; significant decrease of GFAP transcriptional activation. 1 PublicationCorresponds to variant dbSNP:rs1554709683EnsemblClinVar.1
Natural variantiVAR_081862126K → E in MACID; significant decrease of GFAP transcriptional activation. 1 PublicationCorresponds to variant dbSNP:rs1554709662EnsemblClinVar.1
Natural variantiVAR_081863132L → P in MACID; significant decrease of GFAP transcriptional activation. 1 PublicationCorresponds to variant dbSNP:rs1554709654EnsemblClinVar.1
Natural variantiVAR_081864356S → L in MACID; likely benign variant; does not affect GFAP transcriptional activation. 1 PublicationCorresponds to variant dbSNP:rs1554639196EnsemblClinVar.1

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_0547131 – 252Missing in isoform 6. 1 PublicationAdd BLAST252
Alternative sequenceiVSP_0444621 – 10MMYSPICLTQ → MERIPVSVDFWVVCCAVLKC NPGIPMERIPVSVDFWVVCC AVLKCNPGIPKRMSTLCFGF S in isoform 4. 1 Publication10
Alternative sequenceiVSP_003545187 – 188QD → AR in isoform 3. 1 Publication2
Alternative sequenceiVSP_003546189 – 420Missing in isoform 3. 1 PublicationAdd BLAST232
Alternative sequenceiVSP_054714416 – 420SWYLG → PNGSGQVVGKVPGHFTPVLA PSPHPSAVRPVTLSMTDTKP ITTSTEAYTASGTSQANRYV GLSPRDPSFLHQQQLRICDW TMNQNGRHLYPSTSEDTLGI TWQSPGTWASLVPFQVSNRT PILPANVQNYGLNIIGEPFL QAETSN in isoform 6. 1 Publication5
Alternative sequenceiVSP_045065416S → PNGSGQVVGKVPGHFTPVLA PSPHPSAVRPVTLSMTDTKP ITTSTEAYTASGTSQANRYV GLSPRDPSFLHQQQS in isoform 5. 1 Publication1

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
U85193 mRNA Translation: AAB41899.1
U70862 mRNA Translation: AAB51197.1
BT007266 mRNA Translation: AAP35930.1
AK131233 mRNA Translation: BAD18416.1
BX648416 mRNA Translation: CAH56156.1
BX648845 mRNA No translation available.
AL136366 Genomic DNA No translation available.
AL441963 Genomic DNA No translation available.
AL137017 Genomic DNA No translation available.
AL449443 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58697.1
CH471071 Genomic DNA Translation: EAW58699.1
BC001283 mRNA Translation: AAH01283.1
U07810 mRNA Translation: AAA93125.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS55291.1 [O00712-5]
CCDS6474.1 [O00712-1]
CCDS65007.1 [O00712-6]

NCBI Reference Sequences

More...RefSeqi		NP_001177666.1, NM_001190737.1 [O00712-5]
NP_001177667.1, NM_001190738.1
NP_001269716.1, NM_001282787.1 [O00712-6]
NP_005587.2, NM_005596.3 [O00712-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000380953; ENSP00000370340; ENSG00000147862 [O00712-5]
ENST00000380959; ENSP00000370346; ENSG00000147862 [O00712-1]
ENST00000543693; ENSP00000442888; ENSG00000147862 [O00712-6]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4781

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4781

UCSC genome browser

More...UCSCi		uc003zld.4, human [O00712-1]

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
U85193 mRNA Translation: AAB41899.1
U70862 mRNA Translation: AAB51197.1
BT007266 mRNA Translation: AAP35930.1
AK131233 mRNA Translation: BAD18416.1
BX648416 mRNA Translation: CAH56156.1
BX648845 mRNA No translation available.
AL136366 Genomic DNA No translation available.
AL441963 Genomic DNA No translation available.
AL137017 Genomic DNA No translation available.
AL449443 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58697.1
CH471071 Genomic DNA Translation: EAW58699.1
BC001283 mRNA Translation: AAH01283.1
U07810 mRNA Translation: AAA93125.1
CCDSiCCDS55291.1 [O00712-5]
CCDS6474.1 [O00712-1]
CCDS65007.1 [O00712-6]
RefSeqiNP_001177666.1, NM_001190737.1 [O00712-5]
NP_001177667.1, NM_001190738.1
NP_001269716.1, NM_001282787.1 [O00712-6]
NP_005587.2, NM_005596.3 [O00712-1]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi110853, 18 interactors
DIPiDIP-61433N
IntActiO00712, 8 interactors
STRINGi9606.ENSP00000370340

PTM databases

iPTMnetiO00712
PhosphoSitePlusiO00712

Polymorphism and mutation databases

BioMutaiNFIB

Proteomic databases

EPDiO00712
jPOSTiO00712
MassIVEiO00712
PaxDbiO00712
PeptideAtlasiO00712
PRIDEiO00712
ProteomicsDBi32394
43594
48006 [O00712-1]
48007 [O00712-2]
65511

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		1309, 206 antibodies

The DNASU plasmid repository

More...DNASUi		4781

Genome annotation databases

EnsembliENST00000380953; ENSP00000370340; ENSG00000147862 [O00712-5]
ENST00000380959; ENSP00000370346; ENSG00000147862 [O00712-1]
ENST00000543693; ENSP00000442888; ENSG00000147862 [O00712-6]
GeneIDi4781
KEGGihsa:4781
UCSCiuc003zld.4, human [O00712-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4781
DisGeNETi4781
EuPathDBiHostDB:ENSG00000147862.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		NFIB
HGNCiHGNC:7785, NFIB
HPAiENSG00000147862, Low tissue specificity
MalaCardsiNFIB
MIMi600728, gene
618286, phenotype
neXtProtiNX_O00712
OpenTargetsiENSG00000147862
PharmGKBiPA31591

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3663, Eukaryota
GeneTreeiENSGT00950000182916
HOGENOMiCLU_061490_0_0_1
InParanoidiO00712
KOiK09169
PhylomeDBiO00712
TreeFamiTF313889

Enzyme and pathway databases

PathwayCommonsiO00712
ReactomeiR-HSA-73980, RNA Polymerase III Transcription Termination
R-HSA-749476, RNA Polymerase III Abortive And Retractive Initiation
SignaLinkiO00712
SIGNORiO00712

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		4781, 15 hits in 893 CRISPR screens

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

More...ChiTaRSi		NFIB, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		NFIB_(gene)

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

More...GenomeRNAii		4781
PharosiO00712, Tbio

Protein Ontology

More...PROi		PR:O00712
RNActiO00712, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000147862, Expressed in cerebral cortex and 259 other tissues
ExpressionAtlasiO00712, baseline and differential
GenevisibleiO00712, HS

Family and domain databases

InterProiView protein in InterPro
IPR000647, CTF/NFI
IPR020604, CTF/NFI_DNA-bd-dom
IPR019739, CTF/NFI_DNA-bd_CS
IPR019548, CTF/NFI_DNA-bd_N
IPR003619, MAD_homology1_Dwarfin-type
PANTHERiPTHR11492, PTHR11492, 1 hit
PfamiView protein in Pfam
PF00859, CTF_NFI, 1 hit
PF03165, MH1, 1 hit
PF10524, NfI_DNAbd_pre-N, 1 hit
SMARTiView protein in SMART
SM00523, DWA, 1 hit
PROSITEiView protein in PROSITE
PS00349, CTF_NFI_1, 1 hit
PS51080, CTF_NFI_2, 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 nameiNFIB_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: O00712
Secondary accession number(s): G3V1P1
, H7BYE8, O00166, Q12858, Q5VW29, Q63HM5, Q6ZNF9, Q96J45
<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: June 1, 2001
Last sequence update: March 15, 2004
Last modified: August 12, 2020
This is version 181 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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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