Reviewed,
UniProtKB/Swiss-Prot Q96T68 (SETB2_HUMAN)
Last modified
June 16, 2009.
Version 65.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Histone-lysine N-methyltransferase SETDB2 EC=2.1.1.43 Alternative name(s): SET domain bifurcated 2 Chronic lymphocytic leukemia deletion region gene 8 protein Lysine N-methyltransferase 1F | ||||
| 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 | 719 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Probable histone methyltransferase By similarity. |
| Catalytic activity | S-adenosyl-L-methionine + histone L-lysine = S-adenosyl-L-homocysteine + histone N(6)-methyl-L-lysine. |
| Subcellular location | Nucleus By similarity. |
| Tissue specificity | Ubiquitous. Highest expression in heart, testis and ovary. |
| Sequence similarities | Belongs to the histone-lysine methyltransferase family. Contains 1 MBD (methyl-CpG-binding) domain. Contains 1 pre-SET domain. Contains 1 SET domain. |
| Sequence caution | The sequence CAI10818.2 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Ligand | S-adenosyl-L-methionine |
| Molecular function | Chromatin regulator Methyltransferase Transferase |
| Gene Ontology (GO) | |
| Biological process | chromatin modification Inferred 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: InterPro histone-lysine N-methyltransferase activityInferred from electronic annotation. Source: EC zinc ion bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q96T68-1) 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: Q96T68-2) The sequence of this isoform differs from the canonical sequence as follows: 70-81: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q96T68-3) The sequence of this isoform differs from the canonical sequence as follows: 523-523: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 719 | 719 | Histone-lysine N-methyltransferase SETDB2 | PRO_0000186088 | |||||
Regions | |||||||||
| Domain | 157 – 229 | 73 | MBD | ||||||
| Domain | 291 – 364 | 74 | Pre-SET | ||||||
| Domain | 366 – 698 | 333 | SET | ||||||
Natural variations | |||||||||
| Alternative sequence | 70 – 81 | 12 | Missing in isoform 2. | VSP_008413 | |||||
| Alternative sequence | 523 | 1 | Missing in isoform 3. | VSP_024034 | |||||
| Natural variant | 117 | 1 | E → G: dbSNP rs7998427. Ref.1 Ref.5 | VAR_031282 | |||||
| Natural variant | 473 | 1 | V → M: dbSNP rs2057413. Ref.5 Ref.3 Ref.4 | VAR_016976 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning and characterization of CLLD6, CLLD7, and CLLD8, novel candidate genes for leukemogenesis at chromosome 13q14, a region commonly deleted in B-cell chronic lymphocytic leukemia." Mabuchi H., Fujii H., Calin G., Alder H., Negrini M., Rassenti L., Kipps T.J., Bullrich F., Croce C.M. Cancer Res. 61:2870-2877(2001) [PubMed: 11306461] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT GLY-117. |
| [2] | "The DNA sequence and analysis of human chromosome 13." Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. Ross M.T.Nature 428:522-528(2004) [PubMed: 15057823] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT MET-473. Tissue: Colon and Testis. |
| [4] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Blocker H., Heubner D., Hoerlein A., Michel G., Wedler H., Kohrer K., Ottenwalder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 332-719 (ISOFORM 3), VARIANT MET-473. Tissue: Amygdala. |
| [5] | "Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma." Zhang Y., Leaves N.I., Anderson G.G., Ponting C.P., Broxholme J., Holt R., Edser P., Bhattacharyya S., Dunham A., Adcock I.M., Pulleyn L., Barnes P.J., Harper J.I., Abecasis G., Cardon L., White M., Burton J., Matthews L. Cookson W.O.C.M.Nat. Genet. 34:181-186(2003) [PubMed: 12754510] [Abstract] Cited for: VARIANTS GLY-117 AND MET-473. |
Cross-references
Sequence databases | |
|---|---|
| AF334407 mRNA. Translation: AAK38373.1. AL139321, AL136218 Genomic DNA. Translation: CAH71048.1. AL136218, AL139321 Genomic DNA. Translation: CAI10817.1. AL136218 Genomic DNA. Translation: CAI10818.2. Sequence problems. BC017078 mRNA. Translation: AAH17078.1. BC047434 mRNA. Translation: AAH47434.1. AL831937 mRNA. Translation: CAH56265.1. Different termination. | |
| IPI | IPI00045922. IPI00375872. IPI00843770. |
| RefSeq | NP_114121.1. |
| UniGene | Hs.631789 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1ML9 based on UniProtKB Q8X225. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q96T68. |
Genome annotation databases | |
| Ensembl | ENSG00000136169. Homo sapiens. [Contig view] |
| GeneID | 83852. |
| KEGG | hsa:83852. |
Organism-specific databases | |
| GeneCards | GC13P048916. |
| HGNC | HGNC:20263. SETDB2. |
| HPA | CAB012190. |
| MIM | 607865. gene. |
| PharmGKB | PA134956285. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q96T68. |
| OMA | Q96T68. ESDVIDI. |
Enzyme and pathway databases | |
| BRENDA | 2.1.1.43. 247. |
Gene expression databases | |
| ArrayExpress | Q96T68. |
| Bgee | Q96T68. |
| CleanEx | HS_SETDB2. |
| GermOnline | ENSG00000136169. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001739. Methyl_CpG_DNA-bd. IPR007728. Pre-SET_Zn_bd. IPR001214. SET. [Graphical view] |
| Pfam | PF01429. MBD. 1 hit. PF05033. Pre-SET. 1 hit. PF00856. SET. 1 hit. [Graphical view] |
| SMART | SM00317. SET. 1 hit. [Graphical view] |
| PROSITE | PS50982. MBD. 1 hit. PS50867. PRE_SET. 1 hit. PS50280. SET. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 72831. |
| SOURCE | Search... |
Entry information
| Entry name | SETB2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96T68 Secondary accession number(s): Q5TC65 Q96AI6 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 13 Human chromosome 13: 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


