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Protein

Nuclear factor 1 X-type

Gene

NFIX

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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
DNA bindingi1 – 194CTF/NF-IPROSITE-ProRule annotationAdd BLAST194

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

Enzyme and pathway databases

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

Names & Taxonomyi

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
Gene namesi
Name:NFIX
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000008441.16
HGNCiHGNC:7788 NFIX
MIMi164005 gene
neXtProtiNX_Q14938

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

Pathology & Biotechi

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
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

DisGeNETi4784
MalaCardsiNFIX
MIMi602535 phenotype
614753 phenotype
OpenTargetsiENSG00000008441
Orphaneti561 Marshall-Smith syndrome
821 Sotos syndrome
PharmGKBiPA31594

Polymorphism and mutation databases

BioMutaiNFIX
DMDMi14195678

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001002031 – 502Nuclear factor 1 X-typeAdd BLAST502

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei265PhosphoserineCombined sources1
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

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

PTM databases

iPTMnetiQ14938
PhosphoSitePlusiQ14938

Expressioni

Tissue specificityi

Widely expressed.1 Publication

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

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

Organism-specific databases

HPAiHPA007533

Interactioni

Subunit structurei

Binds DNA as a homodimer.

Binary interactionsi

Protein-protein interaction databases

BioGridi110856, 21 interactors
IntActiQ14938, 11 interactors
MINTiQ14938
STRINGi9606.ENSP00000380781

Structurei

3D structure databases

ProteinModelPortaliQ14938
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the CTF/NF-I family.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3663 Eukaryota
ENOG410Y16G LUCA
GeneTreeiENSGT00390000009905
HOGENOMiHOG000013028
HOVERGENiHBG006561
InParanoidiQ14938
KOiK09171
OMAiPMPDTKS
OrthoDBiEOG091G0HVY
PhylomeDBiQ14938
TreeFamiTF313889

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

Sequences (6+)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 7 potential isoforms that are computationally mapped.iShow 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
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

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:
K7EN08K7EN08_HUMAN
Nuclear factor 1
NFIX
455Annotation score:
K7EJB0K7EJB0_HUMAN
Nuclear factor 1 X-type
NFIX
183Annotation score:
K7EKH0K7EKH0_HUMAN
Nuclear factor 1 X-type
NFIX
128Annotation score:
K7EMQ5K7EMQ5_HUMAN
Nuclear factor 1 X-type
NFIX
101Annotation score:
K7ESG9K7ESG9_HUMAN
Nuclear factor 1 X-type
NFIX
125Annotation score:
K7EPU2K7EPU2_HUMAN
Nuclear factor 1 X-type
NFIX
59Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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:
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

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]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiNFIX_HUMAN
AccessioniPrimary (citable) accession number: Q14938
Secondary accession number(s): B4DM25
, O60413, Q0VG09, Q12859, Q13050, Q13052, Q5U094, Q9UPH1, Q9Y6R8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: June 1, 2001
Last modified: September 12, 2018
This is version 170 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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