P16383 (GCFC2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 126.
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: GC-rich sequence DNA-binding factor 2 Alternative name(s): GC-rich sequence DNA-binding factor Transcription factor 9 Short name=TCF-9 | ||||
| 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 | 781 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Factor that represses transcription. It binds to the GC-rich sequences (5'-GCGGGGC-3') present in the epidermal growth factor receptor, beta-actin, and calcium-dependent protease promoters. |
| Subcellular location | |
| Tissue specificity | Widely expressed in tissues and cell lines. |
| Sequence similarities | Belongs to the GCF family. |
| Sequence caution | The sequence AAA35598.1 differs from that shown. Reason: Frameshift at position 147. The sequence AAA35598.1 differs from that shown. Reason: Contaminating sequence. The N-terminus matches the 2q37.3 region. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Transcription Transcription regulation |
| Cellular component | Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil |
| Ligand | DNA-binding |
| Molecular function | Repressor |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | negative regulation of transcription, DNA-dependent Non-traceable author statement PubMed 10500253. Source: UniProtKB transcription, DNA-dependentInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular_component | nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular_function | DNA binding Inferred from electronic annotation. Source: UniProtKB-KW sequence-specific DNA binding transcription factor activityInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: P16383-1) 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: P16383-2) The sequence of this isoform differs from the canonical sequence as follows: 169-207: GMKRESEDDPESEPDDHEKRIPFTLRPQTLRQRMAEESI → V | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 781 | 781 | GC-rich sequence DNA-binding factor 2 | PRO_0000087441 | |||||
Regions | |||||||||
| Coiled coil | 267 – 312 | 46 | Potential | ||||||
| Compositional bias | 116 – 122 | 7 | Poly-Ser | ||||||
Amino acid modifications | |||||||||
| Modified residue | 16 | 1 | Phosphoserine Ref.5 Ref.6 Ref.9 | ||||||
| Modified residue | 17 | 1 | Phosphoserine Ref.5 Ref.6 Ref.9 | ||||||
| Modified residue | 19 | 1 | Phosphoserine Ref.5 Ref.6 Ref.9 | ||||||
| Modified residue | 96 | 1 | Phosphoserine Ref.7 Ref.9 | ||||||
| Modified residue | 97 | 1 | Phosphothreonine Ref.7 Ref.9 | ||||||
| Modified residue | 129 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 180 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 213 | 1 | Phosphothreonine Ref.5 Ref.6 | ||||||
| Modified residue | 214 | 1 | Phosphoserine Ref.5 Ref.6 | ||||||
| Modified residue | 217 | 1 | Phosphoserine Ref.5 Ref.6 | ||||||
Natural variations | |||||||||
| Alternative sequence | 169 – 207 | 39 | GMKRE…AEESI → V in isoform 2. | VSP_021798 | |||||
| Natural variant | 32 | 1 | P → A. Ref.2 Corresponds to variant rs7559767 [ dbSNP | Ensembl ]. | VAR_051005 | |||||
| Natural variant | 249 | 1 | N → S. Corresponds to variant rs7560262 [ dbSNP | Ensembl ]. | VAR_051006 | |||||
| Natural variant | 316 | 1 | Q → E. Corresponds to variant rs6742946 [ dbSNP | Ensembl ]. | VAR_051007 | |||||
| Natural variant | 594 | 1 | T → A. Corresponds to variant rs6722682 [ dbSNP | Ensembl ]. | VAR_051008 | |||||
| Natural variant | 724 | 1 | E → D. Corresponds to variant rs17690300 [ dbSNP | Ensembl ]. | VAR_051009 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Molecular cloning and characterization of a human DNA binding factor that represses transcription." Kageyama R., Pastan I. Cell 59:815-825(1989) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). |
| [2] | "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. Wilson R.K.Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ALA-32. |
| [3] | "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: Skin. |
| [4] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma. |
| [5] | "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-16; SER-17; SER-19; THR-213; SER-214 AND SER-217, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [6] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-16; SER-17; SER-19; THR-213; SER-214 AND SER-217, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [7] | "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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-96 AND THR-97, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [8] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [9] | "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-16; SER-17; SER-19; SER-96 AND THR-97, MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | M29204 mRNA. Translation: AAA35598.1. Sequence problems. AC005034 Genomic DNA. Translation: AAY14973.1. BC064559 mRNA. Translation: AAH64559.1. |
| IPI | IPI00418340. IPI00807475. |
| PIR | A33633. |
| RefSeq | NP_001188263.1. NM_001201334.1. NP_003194.3. NM_003203.4. |
| UniGene | Hs.303808. Hs.662279. Hs.710597. |
3D structure databases | |
| ProteinModelPortal | P16383. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | P16383. 4 interactions. |
| MINT | MINT-2863474. |
| STRING | 9606.ENSP00000318690. |
PTM databases | |
| PhosphoSite | P16383. |
Polymorphism databases | |
| DMDM | 118572650. |
Proteomic databases | |
| PaxDb | P16383. |
| PRIDE | P16383. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000321027; ENSP00000318690; ENSG00000005436. ENST00000409857; ENSP00000386552; ENSG00000005436. |
| GeneID | 6936. |
| KEGG | hsa:6936. |
| UCSC | uc002snn.3. human. |
Organism-specific databases | |
| CTD | 6936. |
| GeneCards | GC02M075880. |
| HGNC | HGNC:1317. GCFC2. |
| MIM | 189901. gene. |
| neXtProt | NX_P16383. |
| PharmGKB | PA25892. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG294271. |
| HOGENOM | HOG000112699. |
| HOVERGEN | HBG101878. |
| InParanoid | P16383. |
| KO | K09061. |
| OMA | QDTWEQQ. |
| OrthoDB | EOG415GDS. |
| PhylomeDB | P16383. |
Gene expression databases | |
| ArrayExpress | P16383. |
| Bgee | P16383. |
| CleanEx | HS_C2orf3. |
| Genevestigator | P16383. |
| GermOnline | ENSG00000005436. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR012890. GCFC. IPR022783. GCFC_dom. [Graphical view] |
| PANTHER | PTHR12214. PTHR12214. 1 hit. |
| Pfam | PF07842. GCFC. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 6936. |
| NextBio | 27141. |
| SOURCE | Search... |
Entry information
| Entry name | GCFC2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P16383 Secondary accession number(s): O95032, Q53TY0, Q6P2F2 | ||||||||
| 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 2 Human chromosome 2: 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
