Reviewed,
UniProtKB/Swiss-Prot Q8BVE8 (NSD2_MOUSE)
Last modified
November 3, 2009.
Version 58.
History...
Clusters with 100%,
90%,
50% identity |
Documents (2) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Probable histone-lysine N-methyltransferase NSD2 EC=2.1.1.43 Alternative name(s): Nuclear SET domain-containing protein 2 Wolf-Hirschhorn syndrome candidate 1 protein homolog | ||||
| Gene names |
| ||||
| Organism | Mus musculus (Mouse) | ||||
| Taxonomic identifier | 10090 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus |
Protein attributes
| Sequence length | 1365 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at transcript 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 | Expressed preferentially in rapidly growing embryonic tissues. Ref.5 |
| Developmental stage | Ubiquitously expressed in early development. Ref.5 |
| Sequence similarities | Belongs to the histone-lysine methyltransferase family. SET2 subfamily. Contains 1 AWS domain. Contains 1 HMG box DNA-binding domain. Contains 4 PHD-type zinc fingers. Contains 1 post-SET domain. Contains 2 PWWP domains. Contains 1 SET domain. |
| Sequence caution | The sequence BAC37342.1 differs from that shown. Reason: Frameshift at positions 649 and 759. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Transcription Transcription regulation |
| Cellular component | Nucleus |
| Coding sequence diversity | Alternative splicing |
| Domain | Repeat Zinc-finger |
| Ligand | DNA-binding Metal-binding Zinc |
| Molecular function | Chromatin regulator Methyltransferase Transferase |
| PTM | Acetylation Phosphoprotein |
| Gene Ontology (GO) | |
| Biological process | chromatin modification Inferred from electronic annotation. Source: UniProtKB-KW regulation of transcriptionInferred from electronic annotation. Source: UniProtKB-KW transcriptionInferred 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 histone-lysine N-methyltransferase activityInferred from electronic annotation. Source: EC protein bindingInferred from electronic annotation. Source: InterPro zinc ion bindingInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8BVE8-1) 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: Q8BVE8-2) The sequence of this isoform differs from the canonical sequence as follows: 558-558: K → KQ | ||||||
| Isoform 3 (identifier: Q8BVE8-3) The sequence of this isoform differs from the canonical sequence as follows: 1-519: Missing. 520-522: NGN → MGM 558-558: K → KQ | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1365 | 1365 | Probable histone-lysine N-methyltransferase NSD2 | PRO_0000259520 | |||||
Regions | |||||||||
| Domain | 222 – 286 | 65 | PWWP 1 | ||||||
| Domain | 880 – 942 | 63 | PWWP 2 | ||||||
| Domain | 1011 – 1061 | 51 | AWS | ||||||
| Domain | 1062 – 1184 | 123 | SET | ||||||
| Domain | 1187 – 1203 | 17 | Post-SET | ||||||
| DNA binding | 453 – 521 | 69 | HMG box | ||||||
| Zinc finger | 667 – 713 | 47 | PHD-type 1 | ||||||
| Zinc finger | 714 – 770 | 57 | PHD-type 2 | ||||||
| Zinc finger | 831 – 875 | 45 | PHD-type 3 | ||||||
| Zinc finger | 1239 – 1286 | 48 | PHD-type 4; atypical | ||||||
Amino acid modifications | |||||||||
| Modified residue | 110 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 115 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 121 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 437 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 779 | 1 | N6-acetyllysine By similarity | ||||||
| Modified residue | 781 | 1 | N6-acetyllysine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 519 | 519 | Missing in isoform 3. | VSP_021424 | |||||
| Alternative sequence | 520 – 522 | 3 | NGN → MGM in isoform 3. | VSP_021425 | |||||
| Alternative sequence | 558 | 1 | K → KQ in isoform 2 and isoform 3. | VSP_021426 | |||||
Experimental info | |||||||||
| Sequence conflict | 757 | 1 | F → L in BAC37342. Ref.3 | ||||||
| Sequence conflict | 1345 | 1 | S → L in AAH53454. Ref.4 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Prediction of the coding sequences of mouse homologues of KIAA gene: III. The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries." Okazaki N., Kikuno R., Ohara R., Inamoto S., Koseki H., Hiraoka S., Saga Y., Nagase T., Ohara O., Koga H. DNA Res. 10:167-180(2003) [PubMed: 14621295] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Embryonic tail. |
| [2] | "Lineage-specific biology revealed by a finished genome assembly of the mouse." Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S. Ponting C.P.PLoS Biol. 7:E1000112-E1000112(2009) [PubMed: 19468303] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. Strain: C57BL/6J. |
| [3] | "The transcriptional landscape of the mammalian genome." Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. Hayashizaki Y.Science 309:1559-1563(2005) [PubMed: 16141072] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 446-1365 (ISOFORM 1). Strain: C57BL/6J. Tissue: Adrenal gland. |
| [4] | "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] OF 516-1365 (ISOFORM 2). Strain: FVB/N. Tissue: Limb and Mammary tumor. |
| [5] | "WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma." Stec I., Wright T.J., van Ommen G.-J.B., de Boer P.A., van Haeringen A., Moorman A.F.M., Altherr M.R., den Dunnen J.T. Hum. Mol. Genet. 7:1071-1082(1998) [PubMed: 9618163] [Abstract] Cited for: TISSUE SPECIFICITY, DEVELOPMENTAL STAGE. |
| [6] | Erratum Stec I., Wright T.J., van Ommen G.-J.B., de Boer P.A., van Haeringen A., Moorman A.F.M., Altherr M.R., den Dunnen J.T. Hum. Mol. Genet. 7:1527-1527(1998) |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AK129287 mRNA. Translation: BAC98097.1. Different initiation. AC163329 Genomic DNA. No translation available. AK078622 mRNA. Translation: BAC37342.1. Frameshift. BC046473 mRNA. Translation: AAH46473.1. BC053454 mRNA. Translation: AAH53454.1. | |
| IPI | IPI00107975. IPI00671804. IPI00762411. |
| UniGene | Mm.19892 Mm.332320 Mm.456405 Mm.460382 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1F62 based on UniProtKB Q9UIG0. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q8BVE8. |
PTM databases | |
| PhosphoSite | Q8BVE8. |
Proteomic databases | |
| PRIDE | Q8BVE8. |
Genome annotation databases | |
| Ensembl | ENSMUST00000058096; ENSMUSP00000058940; ENSMUSG00000057406; Mus musculus. [Genome view] ENSMUST00000066854; ENSMUSP00000067205; ENSMUSG00000057406; Mus musculus. [Genome view] ENSMUST00000075812; ENSMUSP00000075210; ENSMUSG00000057406; Mus musculus. [Genome view] |
| UCSC | uc008xbk.1. mouse. uc008xbm.1. mouse. |
Organism-specific databases | |
| MGI | MGI:1276574. Whsc1. |
| Rouge | Search... |
Phylogenomic databases | |
| HOVERGEN | Q8BVE8. |
| OMA | CWRRVTE. |
Enzyme and pathway databases | |
| BRENDA | 2.1.1.43. 244. |
Gene expression databases | |
| ArrayExpress | Q8BVE8. |
| Bgee | Q8BVE8. |
| CleanEx | MM_WHSC1. |
| Genevestigator | Q8BVE8. |
| GermOnline | ENSMUSG00000057406. Mus musculus. |
Family and domain databases | |
| InterPro | IPR006560. AWS. IPR000910. HMG_HMG1/HMG2. IPR003616. Post-SET_Zn_bd. IPR000313. PWWP. IPR001214. SET. IPR019786. Zinc_finger_PHD-type_CS. IPR001965. Znf_PHD. IPR019787. Znf_PHD-finger. IPR001841. Znf_RING. [Graphical view] |
| Gene3D | G3DSA:1.10.30.10. HMG-box. 1 hit. |
| Pfam | PF00505. HMG_box. 1 hit. PF00628. PHD. 3 hits. PF00855. PWWP. 2 hits. PF00856. SET. 1 hit. [Graphical view] |
| SMART | SM00570. AWS. 1 hit. SM00398. HMG. 1 hit. SM00249. PHD. 4 hits. SM00508. PostSET. 1 hit. SM00293. PWWP. 2 hits. SM00184. RING. 2 hits. SM00317. SET. 1 hit. [Graphical view] |
| PROSITE | PS51215. AWS. 1 hit. PS50118. HMG_BOX_2. 1 hit. PS50868. POST_SET. 1 hit. PS50812. PWWP. 2 hits. PS50280. SET. 1 hit. PS01359. ZF_PHD_1. 2 hits. PS50016. ZF_PHD_2. 2 hits. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| SOURCE | Search... |
Entry information
| Entry name | NSD2_MOUSE | ||||||||
| Accession | Primary (citable) accession number: Q8BVE8 Secondary accession number(s): Q6ZPY1, Q7TSF5, Q811F0 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| MGD cross-references Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


