Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Nuclear factor 1 X-type

Gene

NFIX

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

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.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 – 194CTF/NF-IPROSITE-ProRule annotationAdd BLAST194

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

GO - Biological processi

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

Molecular functionActivator, DNA-binding
Biological processDNA replication, Transcription, Transcription regulation

Enzyme and pathway databases

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

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q14938

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

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Nuclear factor 1 X-type
Short name:
NF1-X
Short name:
Nuclear factor 1/X
Alternative name(s):
CCAAT-box-binding transcription factor
Short name:
CTF
Nuclear factor I/X
Short name:
NF-I/X
Short name:
NFI-X
TGGCA-binding protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NFIX
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000008441.16

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7788 NFIX

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
164005 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q14938

<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; 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

Sotos syndrome 2 (SOTOS2)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Sotos syndrome, a childhood overgrowth syndrome characterized by prenatal and postnatal overgrowth, developmental delay, mental retardation, advanced bone age, and abnormal craniofacial morphology. SOTOS2 patients have macrocephaly, long narrow face, high forehead, slender habitus, scoliosis, and unusual behavior characterized especially by anxiety.
See also OMIM:614753
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_07757138R → C in SOTOS2. 1 Publication1
Natural variantiVAR_07757254R → P in SOTOS2. 1 Publication1
Natural variantiVAR_06872060L → P in SOTOS2. 1 PublicationCorresponds to variant dbSNP:rs387907254EnsemblClinVar.1
Natural variantiVAR_077573116R → P in SOTOS2. 1 Publication1
Natural variantiVAR_068721121R → P in SOTOS2. 1 PublicationCorresponds to variant dbSNP:rs387907255EnsemblClinVar.1
Natural variantiVAR_077574125K → E in SOTOS2. 1 Publication1
Marshall-Smith syndrome (MRSHSS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. Additional skeletal findings include long and thin tubular bones, broad middle phalanges with relatively narrow distal phalanges, and scoliosis.
See also OMIM:602535

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
4784

MalaCards human disease database

More...
MalaCardsi
NFIX
MIMi602535 phenotype
614753 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000008441

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

More...
Orphaneti
447980 19p13.3 microduplication syndrome
420179 Malan overgrowth syndrome
561 Marshall-Smith syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA31594

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NFIX

Domain mapping of disease mutations (DMDM)

More...
DMDMi
14195678

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

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001002031 – 502Nuclear factor 1 X-typeAdd BLAST502

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 residuei265PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki279Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei280PhosphoserineCombined sources1
Modified residuei288PhosphoserineBy similarity1
Modified residuei301PhosphoserineBy similarity1
Modified residuei341PhosphoserineBy similarity1
Modified residuei343Asymmetric dimethylarginineBy similarity1
Modified residuei390Asymmetric dimethylarginineBy similarity1

Keywords - PTMi

Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q14938

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q14938

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

More...
PaxDbi
Q14938

PeptideAtlas

More...
PeptideAtlasi
Q14938

PRoteomics IDEntifications database

More...
PRIDEi
Q14938

ProteomicsDB human proteome resource

More...
ProteomicsDBi
60247
60248 [Q14938-2]
60249 [Q14938-3]
60250 [Q14938-4]
60251 [Q14938-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q14938

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

More...
PhosphoSitePlusi
Q14938

<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.1 Publication

<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

Prominent expression is observed in the central and peripheral nervous system in the embryo at Carnagie stage 17 (CS17; gestational day 42); at this stage it is also observed in the mandibular arch, cartilage primordium of the humerus, scapula, and vertebrae; in the limb expression is detected in the perichondrium. Expressed in the cerebral cortex, hippocampus, and faintly in the thalamus in fetal brain at 22 weeks of gestation,.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000008441 Expressed in 206 organ(s), highest expression level in cerebral cortex

CleanEx database of gene expression profiles

More...
CleanExi
HS_NFIX

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q14938 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q14938 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA007533

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

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

Binds DNA as a homodimer.

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
110856, 21 interactors

Protein interaction database and analysis system

More...
IntActi
Q14938, 12 interactors

Molecular INTeraction database

More...
MINTi
Q14938

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000380781

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q14938

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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

<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
ENOG410Y16G LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000153760

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000013028

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG006561

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q14938

KEGG Orthology (KO)

More...
KOi
K09171

Identification of Orthologs from Complete Genome Data

More...
OMAi
PMPDTKS

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0HVY

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q14938

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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q14938-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MYSPYCLTQD EFHPFIEALL PHVRAFSYTW FNLQARKRKY FKKHEKRMSK
60 70 80 90 100
DEERAVKDEL LGEKPEIKQK WASRLLAKLR KDIRPEFRED FVLTITGKKP
110 120 130 140 150
PCCVLSNPDQ KGKIRRIDCL RQADKVWRLD LVMVILFKGI PLESTDGERL
160 170 180 190 200
YKSPQCSNPG LCVQPHHIGV TIKELDLYLA YFVHTPESGQ SDSSNQQGDA
210 220 230 240 250
DIKPLPNGHL SFQDCFVTSG VWNVTELVRV SQTPVATASG PNFSLADLES
260 270 280 290 300
PSYYNINQVT LGRRSITSPP STSTTKRPKS IDDSEMESPV DDVFYPGTGR
310 320 330 340 350
SPAAGSSQSS GWPNDVDAGP ASLKKSGKLD FCSALSSQGS SPRMAFTHHP
360 370 380 390 400
LPVLAGVRPG SPRATASALH FPSTSIIQQS SPYFTHPTIR YHHHHGQDSL
410 420 430 440 450
KEFVQFVCSD GSGQATGQPN GSGQGKVPGS FLLPPPPPVA RPVPLPMPDS
460 470 480 490 500
KSTSTAPDGA ALTPPSPSFA TTGASSANRF VSIGPRDGNF LNIPQQSQSW

FL
Length:502
Mass (Da):55,098
Last modified:June 1, 2001 - 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:i55B40A7DC505EA21
GO
Isoform 2 (identifier: Q14938-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     318-359: Missing.

Show »
Length:460
Mass (Da):50,811
Checksum:i057954AC4937AFBE
GO
Isoform 3 (identifier: Q14938-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     419-441: PNGSGQGKVPGSFLLPPPPPVAR → HSQRQAPPLPTGLSASDPGTATF
     442-502: Missing.

Show »
Length:441
Mass (Da):48,867
Checksum:i38CB7326FDC82859
GO
Isoform 4 (identifier: Q14938-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-9: MYSPYCLTQ → M

Show »
Length:494
Mass (Da):54,142
Checksum:i8924298844FFA791
GO
Isoform 5 (identifier: Q14938-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-8: MYSPYCLT → MLPACRL
     419-441: PNGSGQGKVPGSFLLPPPPPVAR → HSQRQAPPLPTGLSASDPGTATF
     442-502: Missing.

Show »
Length:440
Mass (Da):48,693
Checksum:i1B415FEA50613C96
GO
Isoform 6 (identifier: Q14938-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-9: MYSPYCLTQ → M
     419-441: PNGSGQGKVPGSFLLPPPPPVAR → HSQRQAPPLPTGLSASDPGTATF
     442-502: Missing.

Note: No experimental confirmation available.
Show »
Length:433
Mass (Da):47,911
Checksum:i7E70888E782E68B5
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JWJ8C9JWJ8_HUMAN
Nuclear factor 1
NFIX
403Annotation 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>
K7EN08K7EN08_HUMAN
Nuclear factor 1
NFIX
455Annotation 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>
K7EJB0K7EJB0_HUMAN
Nuclear factor 1 X-type
NFIX
183Annotation 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>
K7ESG9K7ESG9_HUMAN
Nuclear factor 1 X-type
NFIX
125Annotation 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>
K7EKH0K7EKH0_HUMAN
Nuclear factor 1 X-type
NFIX
128Annotation 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>
K7EMQ5K7EMQ5_HUMAN
Nuclear factor 1 X-type
NFIX
101Annotation 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>
K7EPU2K7EPU2_HUMAN
Nuclear factor 1 X-type
NFIX
59Annotation 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>

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 conflicti91F → Y in AAA53422 (PubMed:7937100).Curated1
Sequence conflicti399S → P in BAG59737 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07757138R → C in SOTOS2. 1 Publication1
Natural variantiVAR_07757254R → P in SOTOS2. 1 Publication1
Natural variantiVAR_06872060L → P in SOTOS2. 1 PublicationCorresponds to variant dbSNP:rs387907254EnsemblClinVar.1
Natural variantiVAR_077573116R → P in SOTOS2. 1 Publication1
Natural variantiVAR_068721121R → P in SOTOS2. 1 PublicationCorresponds to variant dbSNP:rs387907255EnsemblClinVar.1
Natural variantiVAR_077574125K → E in SOTOS2. 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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0035581 – 9MYSPYCLTQ → M in isoform 4 and isoform 6. 2 Publications9
Alternative sequenceiVSP_0035591 – 8MYSPYCLT → MLPACRL in isoform 5. 2 Publications8
Alternative sequenceiVSP_003560318 – 359Missing in isoform 2. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_003561419 – 441PNGSG…PPVAR → HSQRQAPPLPTGLSASDPGT ATF in isoform 3, isoform 5 and isoform 6. 4 PublicationsAdd BLAST23
Alternative sequenceiVSP_003562442 – 502Missing in isoform 3, isoform 5 and isoform 6. 4 PublicationsAdd BLAST61

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
L31881 mRNA Translation: AAA53422.1
U18759 mRNA Translation: AAB52369.1
U18761 mRNA Translation: AAB52371.1
AK297261 mRNA Translation: BAG59737.1
BT019732 mRNA Translation: AAV38537.1
AC004660 Genomic DNA Translation: AAC15752.1
AC007787 Genomic DNA Translation: AAD38240.1
AC007787 Genomic DNA Translation: AAD38241.1
CH471106 Genomic DNA Translation: EAW84340.1
BC117113 mRNA Translation: AAI17114.1
BC117115 mRNA Translation: AAI17116.1
U07811 mRNA Translation: AAA93126.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS45996.1 [Q14938-3]
CCDS59359.1 [Q14938-6]

Protein sequence database of the Protein Information Resource

More...
PIRi
S50112

NCBI Reference Sequences

More...
RefSeqi
NP_001257973.1, NM_001271044.2 [Q14938-6]
NP_002492.2, NM_002501.3 [Q14938-3]
XP_005259975.1, XM_005259918.4 [Q14938-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.257970

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000397661; ENSP00000380781; ENSG00000008441 [Q14938-3]
ENST00000585575; ENSP00000468794; ENSG00000008441 [Q14938-4]
ENST00000587260; ENSP00000467785; ENSG00000008441 [Q14938-5]
ENST00000587760; ENSP00000466389; ENSG00000008441 [Q14938-6]
ENST00000592199; ENSP00000467512; ENSG00000008441 [Q14938-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
4784

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:4784

UCSC genome browser

More...
UCSCi
uc002mwd.4 human [Q14938-1]

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
L31881 mRNA Translation: AAA53422.1
U18759 mRNA Translation: AAB52369.1
U18761 mRNA Translation: AAB52371.1
AK297261 mRNA Translation: BAG59737.1
BT019732 mRNA Translation: AAV38537.1
AC004660 Genomic DNA Translation: AAC15752.1
AC007787 Genomic DNA Translation: AAD38240.1
AC007787 Genomic DNA Translation: AAD38241.1
CH471106 Genomic DNA Translation: EAW84340.1
BC117113 mRNA Translation: AAI17114.1
BC117115 mRNA Translation: AAI17116.1
U07811 mRNA Translation: AAA93126.1
CCDSiCCDS45996.1 [Q14938-3]
CCDS59359.1 [Q14938-6]
PIRiS50112
RefSeqiNP_001257973.1, NM_001271044.2 [Q14938-6]
NP_002492.2, NM_002501.3 [Q14938-3]
XP_005259975.1, XM_005259918.4 [Q14938-1]
UniGeneiHs.257970

3D structure databases

ProteinModelPortaliQ14938
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110856, 21 interactors
IntActiQ14938, 12 interactors
MINTiQ14938
STRINGi9606.ENSP00000380781

PTM databases

iPTMnetiQ14938
PhosphoSitePlusiQ14938

Polymorphism and mutation databases

BioMutaiNFIX
DMDMi14195678

Proteomic databases

EPDiQ14938
MaxQBiQ14938
PaxDbiQ14938
PeptideAtlasiQ14938
PRIDEiQ14938
ProteomicsDBi60247
60248 [Q14938-2]
60249 [Q14938-3]
60250 [Q14938-4]
60251 [Q14938-5]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
4784
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000397661; ENSP00000380781; ENSG00000008441 [Q14938-3]
ENST00000585575; ENSP00000468794; ENSG00000008441 [Q14938-4]
ENST00000587260; ENSP00000467785; ENSG00000008441 [Q14938-5]
ENST00000587760; ENSP00000466389; ENSG00000008441 [Q14938-6]
ENST00000592199; ENSP00000467512; ENSG00000008441 [Q14938-1]
GeneIDi4784
KEGGihsa:4784
UCSCiuc002mwd.4 human [Q14938-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
4784
DisGeNETi4784
EuPathDBiHostDB:ENSG00000008441.16

GeneCards: human genes, protein and diseases

More...
GeneCardsi
NFIX
HGNCiHGNC:7788 NFIX
HPAiHPA007533
MalaCardsiNFIX
MIMi164005 gene
602535 phenotype
614753 phenotype
neXtProtiNX_Q14938
OpenTargetsiENSG00000008441
Orphaneti447980 19p13.3 microduplication syndrome
420179 Malan overgrowth syndrome
561 Marshall-Smith syndrome
PharmGKBiPA31594

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3663 Eukaryota
ENOG410Y16G LUCA
GeneTreeiENSGT00940000153760
HOGENOMiHOG000013028
HOVERGENiHBG006561
InParanoidiQ14938
KOiK09171
OMAiPMPDTKS
OrthoDBiEOG091G0HVY
PhylomeDBiQ14938
TreeFamiTF313889

Enzyme and pathway databases

ReactomeiR-HSA-73980 RNA Polymerase III Transcription Termination
R-HSA-749476 RNA Polymerase III Abortive And Retractive Initiation
SIGNORiQ14938

Miscellaneous databases

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

More...
ChiTaRSi
NFIX human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
NFIX

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

More...
GenomeRNAii
4784

Protein Ontology

More...
PROi
PR:Q14938

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000008441 Expressed in 206 organ(s), highest expression level in cerebral cortex
CleanExiHS_NFIX
ExpressionAtlasiQ14938 baseline and differential
GenevisibleiQ14938 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...

<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 nameiNFIX_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: Q14938
Secondary accession number(s): B4DM25
, O60413, Q0VG09, Q12859, Q13050, Q13052, Q5U094, Q9UPH1, Q9Y6R8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: June 1, 2001
Last modified: December 5, 2018
This is version 173 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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

Do not show this banner again