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Entry version 188 (16 Oct 2019)
Sequence version 2 (20 May 2008)
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Protein

Transcriptional repressor NF-X1

Gene

NFX1

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

Binds to the X-box motif of MHC class II genes and represses their expression. May play an important role in regulating the duration of an inflammatory response by limiting the period in which MHC class II molecules are induced by interferon-gamma. Isoform 3 binds to the X-box motif of TERT promoter and represses its expression. Together with PABPC1 or PABPC4, isoform 1 acts as a coactivator for TERT expression. Mediates E2-dependent ubiquitination.3 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri358 – 409RING-type; atypicalPROSITE-ProRule annotationAdd BLAST52
Zinc fingeri453 – 471NF-X1-type 1Add BLAST19
Zinc fingeri506 – 525NF-X1-type 2Add BLAST20
Zinc fingeri567 – 586NF-X1-type 3Add BLAST20
Zinc fingeri632 – 655NF-X1-type 4Add BLAST24
Zinc fingeri694 – 713NF-X1-type 5Add BLAST20
Zinc fingeri721 – 740NF-X1-type 6Add BLAST20
Zinc fingeri832 – 854NF-X1-type 7Add BLAST23
Zinc fingeri863 – 884NF-X1-type 8Add BLAST22

<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, Repressor, Transferase
Biological processHost-virus interaction, Transcription, Transcription regulation, Ubl conjugation pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q12986

<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:
Transcriptional repressor NF-X1 (EC:2.3.2.-)
Alternative name(s):
Nuclear transcription factor, X box-binding protein 1
<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:NFX1
Synonyms:NFX2
<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 9

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7803 NFX1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
603255 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q12986

<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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi20F → A: Reduces PABPC1 and PABC4 binding. 1 Publication1

Organism-specific databases

Open Targets

More...
OpenTargetsi
ENSG00000086102

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA31608

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q12986

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NFX1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
189047116

<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_00000559791 – 1120Transcriptional repressor NF-X1Add BLAST1120

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 residuei50PhosphoserineCombined sources1
Modified residuei82PhosphoserineBy similarity1
Modified residuei95PhosphoserineCombined sources1
Modified residuei129PhosphoserineBy similarity1
Modified residuei150PhosphoserineCombined sources1
Modified residuei326PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Isoform 3 is polyubiquitinated in the presence of HPV16 E6 protein; which leads to proteasomal degradation. Isoform 1 is not polyubiquitinated.

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q12986

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q12986

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q12986

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q12986

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

More...
PaxDbi
Q12986

PeptideAtlas

More...
PeptideAtlasi
Q12986

PRoteomics IDEntifications database

More...
PRIDEi
Q12986

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
59082 [Q12986-1]
59083 [Q12986-2]
59084 [Q12986-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q12986

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

More...
PhosphoSitePlusi
Q12986

<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 reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By IFNG/IFN-gamma.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000086102 Expressed in 212 organ(s), highest expression level in buccal mucosa cell

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q12986 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA056310
HPA061382
HPA073519

<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

Isoform 1 interacts with PABPC1 and PABPC4.

1 Publication

(Microbial infection) Isoform 1 and isoform 3 interact with human papillomavirus (HPV) type-16 E6 oncoprotein.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
110865, 45 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
Q12986

Protein interaction database and analysis system

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IntActi
Q12986, 8 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000368856

<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

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SMRi
Q12986

Database of comparative protein structure models

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ModBasei
Search...

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini994 – 1062R3HPROSITE-ProRule annotationAdd BLAST69

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>Regioni9 – 26Interaction with PABPC1 and PABC41 PublicationAdd BLAST18

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1084 – 1089Poly-Pro6

<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 RING-type zinc finger domain interacts with an ubiquitin-conjugating enzyme (E2) and facilitates ubiquitination.

<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 NFX1 family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri358 – 409RING-type; atypicalPROSITE-ProRule annotationAdd BLAST52
Zinc fingeri453 – 471NF-X1-type 1Add BLAST19
Zinc fingeri506 – 525NF-X1-type 2Add BLAST20
Zinc fingeri567 – 586NF-X1-type 3Add BLAST20
Zinc fingeri632 – 655NF-X1-type 4Add BLAST24
Zinc fingeri694 – 713NF-X1-type 5Add BLAST20
Zinc fingeri721 – 740NF-X1-type 6Add BLAST20
Zinc fingeri832 – 854NF-X1-type 7Add BLAST23
Zinc fingeri863 – 884NF-X1-type 8Add BLAST22

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1952 Eukaryota
ENOG410XR02 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156325

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000006942

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q12986

KEGG Orthology (KO)

More...
KOi
K12236

Identification of Orthologs from Complete Genome Data

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OMAi
HPCEHPP

Database of Orthologous Groups

More...
OrthoDBi
299100at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q12986

TreeFam database of animal gene trees

More...
TreeFami
TF105889

Family and domain databases

Conserved Domains Database

More...
CDDi
cd02643 R3H_NF-X1, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.30.1370.50, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR034078 NFX1_fam
IPR001374 R3H_dom
IPR036867 R3H_dom_sf
IPR034076 R3H_NF-X1
IPR019786 Zinc_finger_PHD-type_CS
IPR000967 Znf_NFX1
IPR019787 Znf_PHD-finger
IPR001841 Znf_RING

The PANTHER Classification System

More...
PANTHERi
PTHR12360 PTHR12360, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01424 R3H, 1 hit
PF01422 zf-NF-X1, 8 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00393 R3H, 1 hit
SM00184 RING, 1 hit
SM00438 ZnF_NFX, 9 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF82708 SSF82708, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51061 R3H, 1 hit
PS50089 ZF_RING_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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3)i

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

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q12986-1) [UniParc]FASTAAdd to basket
Also known as: NFX-123

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
MAEAPPVSGT FKFNTDAAEF IPQEKKNSGL NCGTQRRLDS NRIGRRNYSS
60 70 80 90 100
PPPCHLSRQV PYDEISAVHQ HSYHPSGSKP KSQQTSFQSS PCNKSPKSHG
110 120 130 140 150
LQNQPWQKLR NEKHHIRVKK AQSLAEQTSD TAGLESSTRS ESGTDLREHS
160 170 180 190 200
PSESEKEVVG ADPRGAKPKK ATQFVYSYGR GPKVKGKLKC EWSNRTTPKP
210 220 230 240 250
EDAGPESTKP VGVFHPDSSE ASSRKGVLDG YGARRNEQRR YPQKRPPWEV
260 270 280 290 300
EGARPRPGRN PPKQEGHRHT NAGHRNNMGP IPKDDLNERP AKSTCDSENL
310 320 330 340 350
AVINKSSRRV DQEKCTVRRQ DPQVVSPFSR GKQNHVLKNV ETHTGSLIEQ
360 370 380 390 400
LTTEKYECMV CCELVRVTAP VWSCQSCYHV FHLNCIKKWA RSPASQADGQ
410 420 430 440 450
SGWRCPACQN VSAHVPNTYT CFCGKVKNPE WSRNEIPHSC GEVCRKKQPG
460 470 480 490 500
QDCPHSCNLL CHPGPCPPCP AFMTKTCECG RTRHTVRCGQ AVSVHCSNPC
510 520 530 540 550
ENILNCGQHQ CAELCHGGQC QPCQIILNQV CYCGSTSRDV LCGTDVGKSD
560 570 580 590 600
GFGDFSCLKI CGKDLKCGNH TCSQVCHPQP CQQCPRLPQL VRCCPCGQTP
610 620 630 640 650
LSQLLELGSS SRKTCMDPVP SCGKVCGKPL PCGSLDFIHT CEKLCHEGDC
660 670 680 690 700
GPCSRTSVIS CRCSFRTKEL PCTSLKSEDA TFMCDKRCNK KRLCGRHKCN
710 720 730 740 750
EICCVDKEHK CPLICGRKLR CGLHRCEEPC HRGNCQTCWQ ASFDELTCHC
760 770 780 790 800
GASVIYPPVP CGTRPPECTQ TCARVHECDH PVYHSCHSEE KCPPCTFLTQ
810 820 830 840 850
KWCMGKHEFR SNIPCHLVDI SCGLPCSATL PCGMHKCQRL CHKGECLVDE
860 870 880 890 900
PCKQPCTTPR ADCGHPCMAP CHTSSPCPVT ACKAKVELQC ECGRRKEMVI
910 920 930 940 950
CSEASSTYQR IAAISMASKI TDMQLGGSVE ISKLITKKEV HQARLECDEE
960 970 980 990 1000
CSALERKKRL AEAFHISEDS DPFNIRSSGS KFSDSLKEDA RKDLKFVSDV
1010 1020 1030 1040 1050
EKEMETLVEA VNKGKNSKKS HSFPPMNRDH RRIIHDLAQV YGLESVSYDS
1060 1070 1080 1090 1100
EPKRNVVVTA IRGKSVCPPT TLTGVLEREM QARPPPPIPH HRHQSDKNPG
1110 1120
SSNLQKITKE PIIDYFDVQD
Length:1,120
Mass (Da):124,395
Last modified:May 20, 2008 - 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:iF2203BE1DB6437E6
GO
Isoform 2 (identifier: Q12986-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1014-1024: GKNSKKSHSFP → VEVETSHWTFL
     1025-1120: Missing.

Show »
Length:1,024
Mass (Da):113,623
Checksum:i4228E14EEF42E3BC
GO
Isoform 3 (identifier: Q12986-3) [UniParc]FASTAAdd to basket
Also known as: NFX-91

The sequence of this isoform differs from the canonical sequence as follows:
     809-833: FRSNIPCHLVDISCGLPCSATLPCG → QSHYWASTQKKRSHYMKKIPAHACL
     834-1120: Missing.

Show »
Length:833
Mass (Da):92,679
Checksum:iAD2A1E26911EA705
GO

<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 AAA69517 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 conflicti179G → A in AAA69517 (Ref. 1) Curated1
Sequence conflicti186G → E in AAA69517 (Ref. 1) Curated1
Sequence conflicti312Q → P in AAA69517 (Ref. 1) Curated1
Sequence conflicti419 – 420YT → FS in AAA69517 (Ref. 1) Curated2
Sequence conflicti560I → T in AAA69517 (Ref. 1) Curated1
Sequence conflicti653C → V in AAA69517 (Ref. 1) Curated1
Sequence conflicti678E → EA in BAF84332 (PubMed:14702039).Curated1
Sequence conflicti714I → N in AAA69517 (Ref. 1) Curated1
Sequence conflicti786C → G in AAA69517 (Ref. 1) Curated1

Natural variant

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_043380731H → Y. Corresponds to variant dbSNP:rs5017299Ensembl.1
Natural variantiVAR_043381760P → S. Corresponds to variant dbSNP:rs2860036Ensembl.1
Natural variantiVAR_0433821086P → Q. Corresponds to variant dbSNP:rs2274866Ensembl.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_033682809 – 833FRSNI…TLPCG → QSHYWASTQKKRSHYMKKIP AHACL in isoform 3. CuratedAdd BLAST25
Alternative sequenceiVSP_033683834 – 1120Missing in isoform 3. CuratedAdd BLAST287
Alternative sequenceiVSP_0336841014 – 1024GKNSKKSHSFP → VEVETSHWTFL in isoform 2. 2 PublicationsAdd BLAST11
Alternative sequenceiVSP_0336851025 – 1120Missing in isoform 2. 2 PublicationsAdd BLAST96

Sequence databases

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EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF332009 mRNA Translation: AAK16545.1
AK291643 mRNA Translation: BAF84332.1
AL356472 Genomic DNA No translation available.
AL356218 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58510.1
CH471071 Genomic DNA Translation: EAW58511.1
BC012151 mRNA Translation: AAH12151.1
U15306 mRNA Translation: AAA69517.1 Frameshift.

The Consensus CDS (CCDS) project

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CCDSi
CCDS6538.1 [Q12986-1]
CCDS6540.1 [Q12986-3]

Protein sequence database of the Protein Information Resource

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PIRi
I38869

NCBI Reference Sequences

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RefSeqi
NP_002495.2, NM_002504.5 [Q12986-1]
NP_667345.1, NM_147134.3 [Q12986-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000318524; ENSP00000317695; ENSG00000086102 [Q12986-3]
ENST00000379540; ENSP00000368856; ENSG00000086102 [Q12986-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
4799

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:4799

UCSC genome browser

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UCSCi
uc003zso.4 human [Q12986-1]

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
AF332009 mRNA Translation: AAK16545.1
AK291643 mRNA Translation: BAF84332.1
AL356472 Genomic DNA No translation available.
AL356218 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58510.1
CH471071 Genomic DNA Translation: EAW58511.1
BC012151 mRNA Translation: AAH12151.1
U15306 mRNA Translation: AAA69517.1 Frameshift.
CCDSiCCDS6538.1 [Q12986-1]
CCDS6540.1 [Q12986-3]
PIRiI38869
RefSeqiNP_002495.2, NM_002504.5 [Q12986-1]
NP_667345.1, NM_147134.3 [Q12986-3]

3D structure databases

SMRiQ12986
ModBaseiSearch...

Protein-protein interaction databases

BioGridi110865, 45 interactors
ELMiQ12986
IntActiQ12986, 8 interactors
STRINGi9606.ENSP00000368856

PTM databases

iPTMnetiQ12986
PhosphoSitePlusiQ12986

Polymorphism and mutation databases

BioMutaiNFX1
DMDMi189047116

Proteomic databases

EPDiQ12986
jPOSTiQ12986
MassIVEiQ12986
MaxQBiQ12986
PaxDbiQ12986
PeptideAtlasiQ12986
PRIDEiQ12986
ProteomicsDBi59082 [Q12986-1]
59083 [Q12986-2]
59084 [Q12986-3]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
4799

Genome annotation databases

EnsembliENST00000318524; ENSP00000317695; ENSG00000086102 [Q12986-3]
ENST00000379540; ENSP00000368856; ENSG00000086102 [Q12986-1]
GeneIDi4799
KEGGihsa:4799
UCSCiuc003zso.4 human [Q12986-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
4799

GeneCards: human genes, protein and diseases

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GeneCardsi
NFX1
HGNCiHGNC:7803 NFX1
HPAiHPA056310
HPA061382
HPA073519
MIMi603255 gene
neXtProtiNX_Q12986
OpenTargetsiENSG00000086102
PharmGKBiPA31608

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1952 Eukaryota
ENOG410XR02 LUCA
GeneTreeiENSGT00940000156325
HOGENOMiHOG000006942
InParanoidiQ12986
KOiK12236
OMAiHPCEHPP
OrthoDBi299100at2759
PhylomeDBiQ12986
TreeFamiTF105889

Enzyme and pathway databases

SIGNORiQ12986

Miscellaneous databases

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

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ChiTaRSi
NFX1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
NFX1

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

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GenomeRNAii
4799
PharosiQ12986

Protein Ontology

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PROi
PR:Q12986

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000086102 Expressed in 212 organ(s), highest expression level in buccal mucosa cell
GenevisibleiQ12986 HS

Family and domain databases

CDDicd02643 R3H_NF-X1, 1 hit
Gene3Di3.30.1370.50, 1 hit
InterProiView protein in InterPro
IPR034078 NFX1_fam
IPR001374 R3H_dom
IPR036867 R3H_dom_sf
IPR034076 R3H_NF-X1
IPR019786 Zinc_finger_PHD-type_CS
IPR000967 Znf_NFX1
IPR019787 Znf_PHD-finger
IPR001841 Znf_RING
PANTHERiPTHR12360 PTHR12360, 1 hit
PfamiView protein in Pfam
PF01424 R3H, 1 hit
PF01422 zf-NF-X1, 8 hits
SMARTiView protein in SMART
SM00393 R3H, 1 hit
SM00184 RING, 1 hit
SM00438 ZnF_NFX, 9 hits
SUPFAMiSSF82708 SSF82708, 1 hit
PROSITEiView protein in PROSITE
PS51061 R3H, 1 hit
PS50089 ZF_RING_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiNFX1_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: Q12986
Secondary accession number(s): A8K6H8
, Q5VXW6, Q96EL5, Q9BXI1
<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: May 20, 2008
Last modified: October 16, 2019
This is version 188 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 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. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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