UniProtKB - Q12986 (NFX1_HUMAN)
Protein
Transcriptional repressor NF-X1
Gene
NFX1
Organism
Homo sapiens (Human)
Status
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 358 – 409 | RING-type; atypicalPROSITE-ProRule annotationAdd BLAST | 52 | |
Zinc fingeri | 453 – 471 | NF-X1-type 1Add BLAST | 19 | |
Zinc fingeri | 506 – 525 | NF-X1-type 2Add BLAST | 20 | |
Zinc fingeri | 567 – 586 | NF-X1-type 3Add BLAST | 20 | |
Zinc fingeri | 632 – 655 | NF-X1-type 4Add BLAST | 24 | |
Zinc fingeri | 694 – 713 | NF-X1-type 5Add BLAST | 20 | |
Zinc fingeri | 721 – 740 | NF-X1-type 6Add BLAST | 20 | |
Zinc fingeri | 832 – 854 | NF-X1-type 7Add BLAST | 23 | |
Zinc fingeri | 863 – 884 | NF-X1-type 8Add BLAST | 22 |
GO - Molecular functioni
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: GO_Central
- DNA-binding transcription repressor activity, RNA polymerase II-specific Source: NTNU_SB
- RNA binding Source: UniProtKB
- RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: NTNU_SB
- ubiquitin protein ligase activity Source: ARUK-UCL
- zinc ion binding Source: InterPro
GO - Biological processi
- inflammatory response Source: ProtInc
- negative regulation of MHC class II biosynthetic process Source: Ensembl
- negative regulation of transcription by RNA polymerase II Source: NTNU_SB
- protein autoubiquitination Source: ARUK-UCL
- protein ubiquitination Source: ARUK-UCL
- regulation of transcription, DNA-templated Source: GO_Central
- transcription by RNA polymerase II Source: ProtInc
- viral process Source: UniProtKB-KW
Keywordsi
Molecular function | Activator, DNA-binding, Repressor, Transferase |
Biological process | Host-virus interaction, Transcription, Transcription regulation, Ubl conjugation pathway |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q12986 |
SIGNORi | Q12986 |
Names & Taxonomyi
Protein namesi | Recommended name: Transcriptional repressor NF-X1 (EC:2.3.2.-)Alternative name(s): Nuclear transcription factor, X box-binding protein 1 |
Gene namesi | Name:NFX1 Synonyms:NFX2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:7803, NFX1 |
MIMi | 603255, gene |
neXtProti | NX_Q12986 |
VEuPathDBi | HostDB:ENSG00000086102.18 |
Subcellular locationi
Nucleus
Cytosol
- cytosol Source: HPA
Nucleus
- nuclear chromatin Source: NTNU_SB
- nucleolus Source: HPA
- nucleoplasm Source: HPA
- nucleus Source: GO_Central
Plasma Membrane
- plasma membrane Source: HPA
Keywords - Cellular componenti
NucleusPathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 20 | F → A: Reduces PABPC1 and PABC4 binding. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 4799 |
OpenTargetsi | ENSG00000086102 |
PharmGKBi | PA31608 |
Miscellaneous databases
Pharosi | Q12986, Tbio |
Genetic variation databases
BioMutai | NFX1 |
DMDMi | 189047116 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000055979 | 1 – 1120 | Transcriptional repressor NF-X1Add BLAST | 1120 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 50 | PhosphoserineCombined sources | 1 | |
Modified residuei | 82 | PhosphoserineBy similarity | 1 | |
Modified residuei | 95 | PhosphoserineCombined sources | 1 | |
Modified residuei | 129 | PhosphoserineBy similarity | 1 | |
Modified residuei | 150 | PhosphoserineCombined sources | 1 | |
Modified residuei | 326 | PhosphoserineCombined sources | 1 |
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 conjugationProteomic databases
EPDi | Q12986 |
jPOSTi | Q12986 |
MassIVEi | Q12986 |
MaxQBi | Q12986 |
PaxDbi | Q12986 |
PeptideAtlasi | Q12986 |
PRIDEi | Q12986 |
ProteomicsDBi | 59082 [Q12986-1] 59083 [Q12986-2] 59084 [Q12986-3] |
PTM databases
iPTMneti | Q12986 |
PhosphoSitePlusi | Q12986 |
Expressioni
Inductioni
By IFNG/IFN-gamma.
Gene expression databases
Bgeei | ENSG00000086102, Expressed in buccal mucosa cell and 227 other tissues |
Genevisiblei | Q12986, HS |
Organism-specific databases
HPAi | ENSG00000086102, Low tissue specificity |
Interactioni
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 PublicationBinary interactionsi
Hide detailsQ12986
Protein-protein interaction databases
BioGRIDi | 110865, 418 interactors |
ELMi | Q12986 |
IntActi | Q12986, 15 interactors |
STRINGi | 9606.ENSP00000368856 |
Miscellaneous databases
RNActi | Q12986, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 994 – 1062 | R3HPROSITE-ProRule annotationAdd BLAST | 69 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 9 – 26 | Interaction with PABPC1 and PABC41 PublicationAdd BLAST | 18 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 1084 – 1089 | Poly-Pro | 6 |
Domaini
The RING-type zinc finger domain interacts with an ubiquitin-conjugating enzyme (E2) and facilitates ubiquitination.
Sequence similaritiesi
Belongs to the NFX1 family.Curated
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 358 – 409 | RING-type; atypicalPROSITE-ProRule annotationAdd BLAST | 52 | |
Zinc fingeri | 453 – 471 | NF-X1-type 1Add BLAST | 19 | |
Zinc fingeri | 506 – 525 | NF-X1-type 2Add BLAST | 20 | |
Zinc fingeri | 567 – 586 | NF-X1-type 3Add BLAST | 20 | |
Zinc fingeri | 632 – 655 | NF-X1-type 4Add BLAST | 24 | |
Zinc fingeri | 694 – 713 | NF-X1-type 5Add BLAST | 20 | |
Zinc fingeri | 721 – 740 | NF-X1-type 6Add BLAST | 20 | |
Zinc fingeri | 832 – 854 | NF-X1-type 7Add BLAST | 23 | |
Zinc fingeri | 863 – 884 | NF-X1-type 8Add BLAST | 22 |
Keywords - Domaini
Repeat, Zinc-fingerPhylogenomic databases
eggNOGi | KOG1952, Eukaryota |
GeneTreei | ENSGT00940000156325 |
HOGENOMi | CLU_005714_1_2_1 |
InParanoidi | Q12986 |
OMAi | HPCEHPP |
OrthoDBi | 299100at2759 |
PhylomeDBi | Q12986 |
TreeFami | TF105889 |
Family and domain databases
CDDi | cd02643, R3H_NF-X1, 1 hit |
Gene3Di | 3.30.1370.50, 1 hit |
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 |
PANTHERi | PTHR12360, PTHR12360, 1 hit |
Pfami | View protein in Pfam PF01424, R3H, 1 hit PF01422, zf-NF-X1, 8 hits |
SMARTi | View protein in SMART SM00393, R3H, 1 hit SM00184, RING, 1 hit SM00438, ZnF_NFX, 9 hits |
SUPFAMi | SSF82708, SSF82708, 1 hit |
PROSITEi | View protein in PROSITE PS51061, R3H, 1 hit PS50089, ZF_RING_2, 1 hit |
s (3)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q12986-1) [UniParc]FASTAAdd to basket
Also known as: NFX-123
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Sequence cautioni
The sequence AAA69517 differs from that shown. Reason: Frameshift.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 179 | G → A in AAA69517 (Ref. 1) Curated | 1 | |
Sequence conflicti | 186 | G → E in AAA69517 (Ref. 1) Curated | 1 | |
Sequence conflicti | 312 | Q → P in AAA69517 (Ref. 1) Curated | 1 | |
Sequence conflicti | 419 – 420 | YT → FS in AAA69517 (Ref. 1) Curated | 2 | |
Sequence conflicti | 560 | I → T in AAA69517 (Ref. 1) Curated | 1 | |
Sequence conflicti | 653 | C → V in AAA69517 (Ref. 1) Curated | 1 | |
Sequence conflicti | 678 | E → EA in BAF84332 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 714 | I → N in AAA69517 (Ref. 1) Curated | 1 | |
Sequence conflicti | 786 | C → G in AAA69517 (Ref. 1) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_043380 | 731 | H → Y. Corresponds to variant dbSNP:rs5017299Ensembl. | 1 | |
Natural variantiVAR_043381 | 760 | P → S. Corresponds to variant dbSNP:rs2860036Ensembl. | 1 | |
Natural variantiVAR_043382 | 1086 | P → Q. Corresponds to variant dbSNP:rs2274866Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_033682 | 809 – 833 | FRSNI…TLPCG → QSHYWASTQKKRSHYMKKIP AHACL in isoform 3. CuratedAdd BLAST | 25 | |
Alternative sequenceiVSP_033683 | 834 – 1120 | Missing in isoform 3. CuratedAdd BLAST | 287 | |
Alternative sequenceiVSP_033684 | 1014 – 1024 | GKNSKKSHSFP → VEVETSHWTFL in isoform 2. 2 PublicationsAdd BLAST | 11 | |
Alternative sequenceiVSP_033685 | 1025 – 1120 | Missing in isoform 2. 2 PublicationsAdd BLAST | 96 |
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. |
CCDSi | CCDS6538.1 [Q12986-1] CCDS6540.1 [Q12986-3] |
PIRi | I38869 |
RefSeqi | NP_002495.2, NM_002504.5 [Q12986-1] NP_667345.1, NM_147134.3 [Q12986-3] |
Genome annotation databases
Ensembli | ENST00000318524; ENSP00000317695; ENSG00000086102 [Q12986-3] ENST00000379540; ENSP00000368856; ENSG00000086102 [Q12986-1] |
GeneIDi | 4799 |
KEGGi | hsa:4799 |
UCSCi | uc003zso.4, human [Q12986-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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. |
CCDSi | CCDS6538.1 [Q12986-1] CCDS6540.1 [Q12986-3] |
PIRi | I38869 |
RefSeqi | NP_002495.2, NM_002504.5 [Q12986-1] NP_667345.1, NM_147134.3 [Q12986-3] |
3D structure databases
SMRi | Q12986 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 110865, 418 interactors |
ELMi | Q12986 |
IntActi | Q12986, 15 interactors |
STRINGi | 9606.ENSP00000368856 |
PTM databases
iPTMneti | Q12986 |
PhosphoSitePlusi | Q12986 |
Genetic variation databases
BioMutai | NFX1 |
DMDMi | 189047116 |
Proteomic databases
EPDi | Q12986 |
jPOSTi | Q12986 |
MassIVEi | Q12986 |
MaxQBi | Q12986 |
PaxDbi | Q12986 |
PeptideAtlasi | Q12986 |
PRIDEi | Q12986 |
ProteomicsDBi | 59082 [Q12986-1] 59083 [Q12986-2] 59084 [Q12986-3] |
Protocols and materials databases
Antibodypediai | 25201, 133 antibodies |
DNASUi | 4799 |
Genome annotation databases
Ensembli | ENST00000318524; ENSP00000317695; ENSG00000086102 [Q12986-3] ENST00000379540; ENSP00000368856; ENSG00000086102 [Q12986-1] |
GeneIDi | 4799 |
KEGGi | hsa:4799 |
UCSCi | uc003zso.4, human [Q12986-1] |
Organism-specific databases
CTDi | 4799 |
DisGeNETi | 4799 |
GeneCardsi | NFX1 |
HGNCi | HGNC:7803, NFX1 |
HPAi | ENSG00000086102, Low tissue specificity |
MIMi | 603255, gene |
neXtProti | NX_Q12986 |
OpenTargetsi | ENSG00000086102 |
PharmGKBi | PA31608 |
VEuPathDBi | HostDB:ENSG00000086102.18 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1952, Eukaryota |
GeneTreei | ENSGT00940000156325 |
HOGENOMi | CLU_005714_1_2_1 |
InParanoidi | Q12986 |
OMAi | HPCEHPP |
OrthoDBi | 299100at2759 |
PhylomeDBi | Q12986 |
TreeFami | TF105889 |
Enzyme and pathway databases
PathwayCommonsi | Q12986 |
SIGNORi | Q12986 |
Miscellaneous databases
BioGRID-ORCSi | 4799, 8 hits in 895 CRISPR screens |
ChiTaRSi | NFX1, human |
GeneWikii | NFX1 |
GenomeRNAii | 4799 |
Pharosi | Q12986, Tbio |
PROi | PR:Q12986 |
RNActi | Q12986, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000086102, Expressed in buccal mucosa cell and 227 other tissues |
Genevisiblei | Q12986, HS |
Family and domain databases
CDDi | cd02643, R3H_NF-X1, 1 hit |
Gene3Di | 3.30.1370.50, 1 hit |
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 |
PANTHERi | PTHR12360, PTHR12360, 1 hit |
Pfami | View protein in Pfam PF01424, R3H, 1 hit PF01422, zf-NF-X1, 8 hits |
SMARTi | View protein in SMART SM00393, R3H, 1 hit SM00184, RING, 1 hit SM00438, ZnF_NFX, 9 hits |
SUPFAMi | SSF82708, SSF82708, 1 hit |
PROSITEi | View protein in PROSITE PS51061, R3H, 1 hit PS50089, ZF_RING_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | NFX1_HUMAN | |
Accessioni | Q12986Primary (citable) accession number: Q12986 Secondary accession number(s): A8K6H8 Q9BXI1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | May 20, 2008 | |
Last modified: | February 10, 2021 | |
This is version 196 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families