Q12986 (NFX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 129.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Transcriptional repressor NF-X1 EC=6.3.2.- Alternative name(s): Nuclear transcription factor, X box-binding protein 1 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1120 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | 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. Ref.7 Ref.8 Ref.9 |
| Subunit structure | Isoform 1 and isoform 3 interact with human papillomavirus (HPV) type-16 E6 oncoprotein. Isoform 1 interacts with PABPC1 and PABPC4. Ref.8 Ref.9 |
| Subcellular location | |
| Induction | By IFNG/IFN-gamma. |
| Domain | The RING-type zinc finger domain interacts with an ubiquitin-conjugating enzyme (E2) and facilitates ubiquitination. |
| Post-translational modification | Isoform 3 is polyubiquitinated in the presence of HPV16 E6 protein; which leads to proteasomal degradation. Isoform 1 is not polyubiquitinated. |
| Sequence similarities | Belongs to the NFX1 family. Contains 8 NF-X1-type zinc fingers. Contains 1 R3H domain. Contains 1 RING-type zinc finger. |
| Sequence caution | The sequence AAA69517.1 differs from that shown. Reason: Frameshift at positions 78, 202 and 284. |
Ontologies
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q12986-1) Also known as: NFX-123; 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. | ||||||
| Isoform 2 (identifier: Q12986-2) The sequence of this isoform differs from the canonical sequence as follows: 1014-1024: GKNSKKSHSFP → VEVETSHWTFL 1025-1120: Missing. | ||||||
| Isoform 3 (identifier: Q12986-3) Also known as: NFX-91; The sequence of this isoform differs from the canonical sequence as follows: 809-833: FRSNIPCHLVDISCGLPCSATLPCG → QSHYWASTQKKRSHYMKKIPAHACL 834-1120: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1120 | 1120 | Transcriptional repressor NF-X1 | PRO_0000055979 | |||||
Regions | |||||||||
| Domain | 994 – 1062 | 69 | R3H | ||||||
| Zinc finger | 358 – 409 | 52 | RING-type; atypical | ||||||
| Zinc finger | 453 – 471 | 19 | NF-X1-type 1 | ||||||
| Zinc finger | 506 – 525 | 20 | NF-X1-type 2 | ||||||
| Zinc finger | 567 – 586 | 20 | NF-X1-type 3 | ||||||
| Zinc finger | 632 – 655 | 24 | NF-X1-type 4 | ||||||
| Zinc finger | 694 – 713 | 20 | NF-X1-type 5 | ||||||
| Zinc finger | 721 – 740 | 20 | NF-X1-type 6 | ||||||
| Zinc finger | 832 – 854 | 23 | NF-X1-type 7 | ||||||
| Zinc finger | 863 – 884 | 22 | NF-X1-type 8 | ||||||
| Region | 9 – 26 | 18 | Interaction with PABPC1 and PABC4 | ||||||
| Compositional bias | 1084 – 1089 | 6 | Poly-Pro | ||||||
Amino acid modifications | |||||||||
| Modified residue | 50 | 1 | Phosphoserine Ref.11 | ||||||
Natural variations | |||||||||
| Alternative sequence | 809 – 833 | 25 | FRSNI…TLPCG → QSHYWASTQKKRSHYMKKIP AHACL in isoform 3. | VSP_033682 | |||||
| Alternative sequence | 834 – 1120 | 287 | Missing in isoform 3. | VSP_033683 | |||||
| Alternative sequence | 1014 – 1024 | 11 | GKNSKKSHSFP → VEVETSHWTFL in isoform 2. | VSP_033684 | |||||
| Alternative sequence | 1025 – 1120 | 96 | Missing in isoform 2. | VSP_033685 | |||||
| Natural variant | 731 | 1 | H → Y. Corresponds to variant rs5017299 [ dbSNP | Ensembl ]. | VAR_043380 | |||||
| Natural variant | 760 | 1 | P → S. Corresponds to variant rs2860036 [ dbSNP | Ensembl ]. | VAR_043381 | |||||
| Natural variant | 1086 | 1 | P → Q. Corresponds to variant rs2274866 [ dbSNP | Ensembl ]. | VAR_043382 | |||||
Experimental info | |||||||||
| Mutagenesis | 20 | 1 | F → A: Reduces PABPC1 and PABC4 binding. Ref.9 | ||||||
| Sequence conflict | 179 | 1 | G → A in AAA69517. Ref.1 | ||||||
| Sequence conflict | 186 | 1 | G → E in AAA69517. Ref.1 | ||||||
| Sequence conflict | 312 | 1 | Q → P in AAA69517. Ref.1 | ||||||
| Sequence conflict | 419 – 420 | 2 | YT → FS in AAA69517. Ref.1 | ||||||
| Sequence conflict | 560 | 1 | I → T in AAA69517. Ref.1 | ||||||
| Sequence conflict | 653 | 1 | C → V in AAA69517. Ref.1 | ||||||
| Sequence conflict | 678 | 1 | E → EA in BAF84332. Ref.2 | ||||||
| Sequence conflict | 714 | 1 | I → N in AAA69517. Ref.1 | ||||||
| Sequence conflict | 786 | 1 | C → G in AAA69517. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | Li J.M., Sah J.H., Zhou Z.M. Submitted (DEC-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). Tissue: Testis. |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Placenta. |
| [3] | "DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. Dunham I.Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Eye. |
| [6] | "A novel cysteine-rich sequence-specific DNA-binding protein interacts with the conserved X-box motif of the human major histocompatibility complex class II genes via a repeated Cys-His domain and functions as a transcriptional repressor." Song Z., Krishna S., Thanos D., Strominger J.L., Ono S.J. J. Exp. Med. 180:1763-1774(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 48-1120 (ISOFORM 1). |
| [7] | "RING fingers mediate ubiquitin-conjugating enzyme (E2)-dependent ubiquitination." Lorick K.L., Jensen J.P., Fang S., Ong A.M., Hatakeyama S., Weissman A.M. Proc. Natl. Acad. Sci. U.S.A. 96:11364-11369(1999) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION AS AN E2-DEPENDENT UBIQUITIN-PROTEIN LIGASE. |
| [8] | "Identification of a novel telomerase repressor that interacts with the human papillomavirus type-16 E6/E6-AP complex." Gewin L., Myers H., Kiyono T., Galloway D.A. Genes Dev. 18:2269-2282(2004) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH HPV16 E6, FUNCTION. |
| [9] | "NFX1-123 and poly(A) binding proteins synergistically augment activation of telomerase in human papillomavirus type 16 E6-expressing cells." Katzenellenbogen R.A., Egelkrout E.M., Vliet-Gregg P., Gewin L.C., Gafken P.R., Galloway D.A. J. Virol. 81:3786-3796(2007) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH PABPC1 AND PABPC4, MUTAGENESIS OF PHE-20. |
| [10] | "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma. |
| [11] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-50, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [12] | "Large-scale proteomics analysis of the human kinome." Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H. Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [13] | "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF332009 mRNA. Translation: AAK16545.1. AK291643 mRNA. Translation: BAF84332.1. AL356472, AL356218 Genomic DNA. Translation: CAH72745.1. AL356472, AL356218 Genomic DNA. Translation: CAH72746.1. AL356472 Genomic DNA. Translation: CAH72747.3. AL356218, AL356472 Genomic DNA. Translation: CAI13304.1. AL356218, AL356472 Genomic DNA. Translation: CAI13305.1. CH471071 Genomic DNA. Translation: EAW58510.1. CH471071 Genomic DNA. Translation: EAW58511.1. BC012151 mRNA. Translation: AAH12151.1. U15306 mRNA. Translation: AAA69517.1. Frameshift. |
| IPI | IPI00158157. IPI00158159. IPI00843917. |
| PIR | I38869. |
| RefSeq | NP_002495.2. NM_002504.4. NP_667344.1. NM_147133.2. NP_667345.1. NM_147134.2. |
| UniGene | Hs.413074. |
3D structure databases | |
| ProteinModelPortal | Q12986. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q12986. 2 interactions. |
| STRING | 9606.ENSP00000368856. |
PTM databases | |
| PhosphoSite | Q12986. |
Polymorphism databases | |
| DMDM | 189047116. |
Proteomic databases | |
| PaxDb | Q12986. |
| PRIDE | Q12986. |
Protocols and materials databases | |
| DNASU | 4799. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000318524; ENSP00000317695; ENSG00000086102. ENST00000379521; ENSP00000368836; ENSG00000086102. ENST00000379540; ENSP00000368856; ENSG00000086102. |
| GeneID | 4799. |
| KEGG | hsa:4799. |
| UCSC | uc003zso.3. human. uc003zsp.2. human. uc003zsq.3. human. |
Organism-specific databases | |
| CTD | 4799. |
| GeneCards | GC09P033280. |
| HGNC | HGNC:7803. NFX1. |
| MIM | 603255. gene. |
| neXtProt | NX_Q12986. |
| PharmGKB | PA31608. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG12793. |
| HOGENOM | HOG000006942. |
| HOVERGEN | HBG003827. |
| InParanoid | Q12986. |
| KO | K12236. |
| OMA | LVRYCPC. |
| OrthoDB | EOG4KSPHZ. |
| PhylomeDB | Q12986. |
Gene expression databases | |
| Bgee | Q12986. |
| CleanEx | HS_NFX1. |
| Genevestigator | Q12986. |
| GermOnline | ENSG00000086102. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001374. R3H_ss-bd. IPR019786. Zinc_finger_PHD-type_CS. IPR000967. Znf_NFX1. IPR019787. Znf_PHD-finger. IPR001841. Znf_RING. [Graphical view] |
| Pfam | PF01424. R3H. 1 hit. PF01422. zf-NF-X1. 5 hits. [Graphical view] |
| SMART | SM00393. R3H. 1 hit. SM00184. RING. 1 hit. SM00438. ZnF_NFX. 9 hits. [Graphical view] |
| PROSITE | PS51061. R3H. 1 hit. PS00518. ZF_RING_1. False negative. PS50089. ZF_RING_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | NFX1. human. |
| GenomeRNAi | 4799. |
| NextBio | 18492. |
| SOURCE | Search... |
Entry information
| Entry name | NFX1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q12986 Secondary accession number(s): A8K6H8 Q9BXI1 | ||||||||
| Entry history |
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| Entry status | 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. | ||||||||
Relevant documents
| Human chromosome 9 Human chromosome 9: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
