Q96PN7 (TREF1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 89.
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-regulating factor 1 Alternative name(s): Breast cancer anti-estrogen resistance 2 Transcriptional-regulating protein 132 Zinc finger protein rapa Zinc finger transcription factor TReP-132 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1200 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Activates transcription of CYP11A1. Interaction with CREBBP and EP300 results in a synergistic transcriptional activation of CYP11A1. Ref.1 |
| Subunit structure | Interacts with CREBBP and EP300. Ref.1 |
| Subcellular location | |
| Tissue specificity | Highest expression was seen in thymus, testis and adrenal cortex, expressed also in the adrenal medulla, thyroid, and stomach. Highly expressed in steroidogenic JEG-3 and MCF-7 cells, low expression was seen in non-steroidogenic HepG2 and HK293 cells. Ref.1 |
| Sequence similarities | Contains 3 C2H2-type zinc fingers. Contains 1 ELM2 domain. Contains 1 SANT domain. |
| Sequence caution | The sequence BAA92082.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q96PN7-1) 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: Q96PN7-2) Also known as: Rapa-1; The sequence of this isoform differs from the canonical sequence as follows: 1-161: Missing. 546-628: Missing. | ||||||
| Isoform 3 (identifier: Q96PN7-3) Also known as: Rapa-2; The sequence of this isoform differs from the canonical sequence as follows: 1-161: Missing. 546-628: Missing. 1022-1022: A → ADCRCHVTPFLPQ | ||||||
| Isoform 4 (identifier: Q96PN7-4) The sequence of this isoform differs from the canonical sequence as follows: 546-628: Missing. | ||||||
| Note: Gene prediction based on EST data. | ||||||
| Isoform 5 (identifier: Q96PN7-5) The sequence of this isoform differs from the canonical sequence as follows: 546-628: Missing. 1022-1022: A → ADCRCHVTPFLPQ | ||||||
| Note: Gene prediction based on EST data. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1200 | 1200 | Transcriptional-regulating factor 1 | PRO_0000197134 | |||||
Regions | |||||||||
| Domain | 779 – 870 | 92 | ELM2 | ||||||
| Domain | 885 – 936 | 52 | SANT | ||||||
| Zinc finger | 512 – 534 | 23 | C2H2-type 1 | ||||||
| Zinc finger | 1013 – 1037 | 25 | C2H2-type 2 | ||||||
| Zinc finger | 1086 – 1108 | 23 | C2H2-type 3 | ||||||
| Region | 439 – 1200 | 762 | Interacts with CREBBP | ||||||
| Compositional bias | 202 – 417 | 216 | Gln-rich | ||||||
| Compositional bias | 553 – 749 | 197 | Pro-rich | ||||||
| Compositional bias | 956 – 982 | 27 | Glu-rich | ||||||
Amino acid modifications | |||||||||
| Modified residue | 491 | 1 | Phosphoserine Ref.6 | ||||||
| Modified residue | 767 | 1 | Phosphothreonine Ref.7 | ||||||
| Modified residue | 975 | 1 | Phosphoserine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 161 | 161 | Missing in isoform 2 and isoform 3. | VSP_015644 | |||||
| Alternative sequence | 546 – 628 | 83 | Missing in isoform 2, isoform 3, isoform 4 and isoform 5. | VSP_015645 | |||||
| Alternative sequence | 1022 | 1 | A → ADCRCHVTPFLPQ in isoform 3 and isoform 5. | VSP_015646 | |||||
| Natural variant | 431 | 1 | T → A. Corresponds to variant rs35162277 [ dbSNP | Ensembl ]. | VAR_050197 | |||||
| Natural variant | 766 | 1 | V → I. Corresponds to variant rs59159203 [ dbSNP | Ensembl ]. | VAR_061362 | |||||
| Natural variant | 834 | 1 | C → S. Corresponds to variant rs2295275 [ dbSNP | Ensembl ]. | VAR_050198 | |||||
| Natural variant | 1019 | 1 | N → T. Corresponds to variant rs35978318 [ dbSNP | Ensembl ]. | VAR_050199 | |||||
| Natural variant | 1187 | 1 | D → N. Corresponds to variant rs11751765 [ dbSNP | Ensembl ]. | VAR_050200 | |||||
Experimental info | |||||||||
| Sequence conflict | 658 | 1 | P → S in CAB88206. Ref.2 | ||||||
| Sequence conflict | 658 | 1 | P → S in CAB88207. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "A novel zinc finger protein TReP-132 interacts with CBP/p300 to regulate human CYP11A1 gene expression." Gizard F., Lavallee B., DeWitte F., Hum D.W. J. Biol. Chem. 276:33881-33892(2001) [PubMed: 11349124] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH CREBBP AND EP300. Tissue: Adrenal gland. |
| [2] | "The cDNA sequences of rapa-1 and -2, two zinc finger proteins with unique structural characteristics." Mauch S., Sedlacek R., Krawinkel U. Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3). |
| [3] | "Functional identification of genes causing estrogen independence of human breast cancer cells." van Agthoven T., Veldscholte J., Smid M., van Agthoven T.L., Vreede L., Broertjes M., de Vries I., de Jong D., Sarwari R., Dorssers L.C.J. Breast Cancer Res. Treat. 114:23-30(2009) [PubMed: 18351453] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [4] | "The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. Beck S.Nature 425:805-811(2003) [PubMed: 14574404] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 900-1200 (ISOFORMS 1/2/4). Tissue: Placenta. |
| [6] | "Large-scale characterization of HeLa cell nuclear phosphoproteins." Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-491, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [7] | "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: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-767, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF297872 mRNA. Translation: AAL01653.1. AJ277275 mRNA. Translation: CAB88206.1. AJ277276 mRNA. Translation: CAB88207.1. AM404259 mRNA. Translation: CAL49295.1. AM404183 mRNA. Translation: CAL49297.1. AL096814 Genomic DNA. Translation: CAD92526.1. AL096814 Genomic DNA. Translation: CAD92527.2. AL096814 Genomic DNA. Translation: CAD92528.2. AK002096 mRNA. Translation: BAA92082.1. Different initiation. |
| IPI | IPI00044583. IPI00376357. IPI00413735. IPI00853356. IPI00853414. |
| RefSeq | NP_277037.1. NM_033502.2. |
| UniGene | Hs.485392. |
3D structure databases | |
| ProteinModelPortal | Q96PN7. |
| SMR | Q96PN7. Positions 889-934, 1010-1108. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q96PN7. 2 interactions. |
| STRING | Q96PN7. |
PTM databases | |
| PhosphoSite | Q96PN7. |
Polymorphism databases | |
| DMDM | 74762683. |
Proteomic databases | |
| PRIDE | Q96PN7. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000372922; ENSP00000362013; ENSG00000124496. |
| GeneID | 55809. |
| KEGG | hsa:55809. |
| UCSC | uc003osb.1. human. uc003osc.1. human. uc003osd.1. human. |
Organism-specific databases | |
| CTD | 55809. |
| GeneCards | GC06M042192. |
| H-InvDB | HIX0005881. |
| HGNC | HGNC:18273. TRERF1. |
| MIM | 610322. gene. |
| neXtProt | NX_Q96PN7. |
| PharmGKB | PA134923539. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG08780. |
| GeneTree | ENSGT00530000063277. |
| HOVERGEN | HBG082398. |
| InParanoid | Q96PN7. |
| OMA | QIPQYYQ. |
| OrthoDB | EOG4VHK5R. |
| PhylomeDB | Q96PN7. |
Gene expression databases | |
| ArrayExpress | Q96PN7. |
| Bgee | Q96PN7. |
| CleanEx | HS_TRERF1. |
| Genevestigator | Q96PN7. |
| GermOnline | ENSG00000124496. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR000949. ELM2_dom. IPR009057. Homeodomain-like. IPR001005. SANT_DNA-bd. IPR017884. SANT_eukarya. IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view] |
| Gene3D | G3DSA:3.30.160.60. Znf_C2H2/integrase_DNA-bd. 2 hits. |
| Pfam | PF01448. ELM2. 1 hit. PF00096. zf-C2H2. 1 hit. [Graphical view] |
| SMART | SM00717. SANT. 1 hit. SM00355. ZnF_C2H2. 3 hits. [Graphical view] |
| SUPFAM | SSF46689. Homeodomain_like. 1 hit. |
| PROSITE | PS51156. ELM2. 1 hit. PS51293. SANT. 1 hit. PS00028. ZINC_FINGER_C2H2_1. 3 hits. PS50157. ZINC_FINGER_C2H2_2. 3 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 60969. |
| SOURCE | Search... |
Entry information
| Entry name | TREF1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96PN7 Secondary accession number(s): Q05GC6 Q9NUN9 | ||||||||
| 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 6 Human chromosome 6: 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