Q8IYR2 (SMYD4_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 86.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: SET and MYND domain-containing protein 4 | ||||
| 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 | 804 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Sequence similarities | Contains 1 MYND-type zinc finger. Contains 1 SET domain. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Polymorphism |
| Domain | Zinc-finger |
| Ligand | Metal-binding Zinc |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Molecular_function | zinc ion binding Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 804 | 804 | SET and MYND domain-containing protein 4 | PRO_0000227784 | |||||
Regions | |||||||||
| Domain | 460 – 578 | 119 | SET | ||||||
| Zinc finger | 296 – 335 | 40 | MYND-type | ||||||
| Region | 112 – 114 | 3 | S-adenosyl-L-methionine binding By similarity | ||||||
| Region | 539 – 540 | 2 | S-adenosyl-L-methionine binding By similarity | ||||||
Sites | |||||||||
| Binding site | 427 | 1 | S-adenosyl-L-methionine By similarity | ||||||
| Binding site | 573 | 1 | S-adenosyl-L-methionine By similarity | ||||||
| Binding site | 595 | 1 | S-adenosyl-L-methionine By similarity | ||||||
Natural variations | |||||||||
| Natural variant | 101 | 1 | N → D. Corresponds to variant rs9907701 [ dbSNP | Ensembl ]. | VAR_057495 | |||||
| Natural variant | 131 | 1 | R → I. Ref.1 Ref.2 Corresponds to variant rs7224496 [ dbSNP | Ensembl ]. | VAR_025626 | |||||
| Natural variant | 236 | 1 | G → S. Corresponds to variant rs9913923 [ dbSNP | Ensembl ]. | VAR_057496 | |||||
| Natural variant | 374 | 1 | I → M. Corresponds to variant rs9890631 [ dbSNP | Ensembl ]. | VAR_057497 | |||||
| Natural variant | 382 | 1 | P → R. Corresponds to variant rs3809875 [ dbSNP | Ensembl ]. | VAR_057498 | |||||
| Natural variant | 562 | 1 | R → W. Ref.3 Corresponds to variant rs11549830 [ dbSNP | Ensembl ]. | VAR_025628 | |||||
| Natural variant | 601 | 1 | A → P Found in a renal cell carcinoma sample; somatic mutation. Ref.4 | VAR_064755 | |||||
| Natural variant | 727 | 1 | Y → C. Ref.1 Ref.2 Ref.3 Corresponds to variant rs9902398 [ dbSNP | Ensembl ]. | VAR_025627 | |||||
Experimental info | |||||||||
| Sequence conflict | 326 | 1 | A → V in AAH35077. Ref.2 | ||||||
| Sequence conflict | 511 | 1 | H → R in BAC04538. Ref.1 | ||||||
| Sequence conflict | 514 | 1 | P → S in BAC04538. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "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], VARIANTS ILE-131 AND CYS-727. Tissue: Cerebellum and Tongue. |
| [2] | "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], VARIANTS ILE-131 AND CYS-727. Tissue: Brain. |
| [3] | "Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins." Nagase T., Kikuno R., Ohara O. DNA Res. 8:179-187(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 197-754, VARIANTS TRP-562 AND CYS-727. Tissue: Brain. |
| [4] | "Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma." Varela I., Tarpey P., Raine K., Huang D., Ong C.K., Stephens P., Davies H., Jones D., Lin M.L., Teague J., Bignell G., Butler A., Cho J., Dalgliesh G.L., Galappaththige D., Greenman C., Hardy C., Jia M. Futreal P.A.Nature 469:539-542(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PRO-601. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AK057769 mRNA. Translation: BAB71564.1. AK095369 mRNA. Translation: BAC04538.1. BC035077 mRNA. Translation: AAH35077.1. AB067523 mRNA. Translation: BAB67829.1. |
| IPI | IPI00410192. |
| RefSeq | NP_443160.2. NM_052928.2. |
| UniGene | Hs.514602. |
3D structure databases | |
| ProteinModelPortal | Q8IYR2. |
| SMR | Q8IYR2. Positions 296-337, 490-617. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q8IYR2. 1 interaction. |
| STRING | 9606.ENSP00000304360. |
PTM databases | |
| PhosphoSite | Q8IYR2. |
Polymorphism databases | |
| DMDM | 296452956. |
Proteomic databases | |
| PaxDb | Q8IYR2. |
| PRIDE | Q8IYR2. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000305513; ENSP00000304360; ENSG00000186532. |
| GeneID | 114826. |
| KEGG | hsa:114826. |
| UCSC | uc002ftm.4. human. |
Organism-specific databases | |
| CTD | 114826. |
| GeneCards | GC17M001682. |
| H-InvDB | HIX0017748. |
| HGNC | HGNC:21067. SMYD4. |
| HPA | HPA030059. |
| neXtProt | NX_Q8IYR2. |
| PharmGKB | PA134925431. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG271719. |
| HOGENOM | HOG000118355. |
| HOVERGEN | HBG082493. |
| InParanoid | Q8IYR2. |
| OMA | SSVEMGH. |
| OrthoDB | EOG4MKNFM. |
| PhylomeDB | Q8IYR2. |
Gene expression databases | |
| ArrayExpress | Q8IYR2. |
| Bgee | Q8IYR2. |
| CleanEx | HS_SMYD4. |
| Genevestigator | Q8IYR2. |
| GermOnline | ENSG00000186532. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.25.40.10. 1 hit. |
| InterPro | IPR001214. SET_dom. IPR011990. TPR-like_helical. IPR002893. Znf_MYND. [Graphical view] |
| Pfam | PF00856. SET. 1 hit. PF01753. zf-MYND. 1 hit. [Graphical view] |
| SMART | SM00317. SET. 1 hit. [Graphical view] |
| PROSITE | PS50280. SET. 1 hit. PS01360. ZF_MYND_1. 1 hit. PS50865. ZF_MYND_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | SMYD4. human. |
| GenomeRNAi | 114826. |
| NextBio | 79327. |
Entry information
| Entry name | SMYD4_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8IYR2 Secondary accession number(s): Q8N1P2 Q96PV2 | ||||||||
| 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 17 Human chromosome 17: 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with
