Q8IZQ8 (MYCD_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 98.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Myocardin | ||||
| 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 | 938 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Smooth muscle cells (SM) and cardiac muscle cells-specific transcriptional factor which uses the canonical single or multiple CArG boxes DNA sequence. Acts as a cofactor of serum response factor (SRF) with the potential to modulate SRF-target genes. Plays a crucial role in cardiogenesis and differentiation of the smooth muscle cell lineage (myogenesis) By similarity. Ref.2 |
| Subunit structure | Homodimer. Interacts with SRF, its association does not depend on specific DNA sequences for ternary complex formation By similarity. Interacts with MLLT7/FOXO4. Interacts (via C-terminal) with EP300 (via the CREB-binding domain). Interacts with HDAC4 and HDAC5 By similarity. Interacts with MEF2C By similarity. Ref.8 |
| Subcellular location | Nucleus By similarity. |
| Tissue specificity | Expressed in heart, aorta, and in smooth muscle cell-containing tissues: stomach, bladder, small intestine, colon, lung, placenta and uterus. Very faint expression in prostate and skeletal muscle. Ref.2 Ref.9 |
| Induction | Up-regulated during heart failure. Ref.7 |
| Domain | The C-terminal region contains a general transcription activation domain. The N-terminal region, comprising a basic and a Gln-rich domain, confers transcriptional potency and specificity by mediating association with the MADS box of SRF. The basic domain may be required for nuclear localization. The SAP domain is important for transactivation and ternary complex formation By similarity. |
| Post-translational modification | Phosphorylation regulates negatively the intrinsic myocardin transcriptional activity By similarity. |
| Sequence similarities | Contains 3 RPEL repeats. Contains 1 SAP domain. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| SRF | P11831 | 2 | EBI-493384,EBI-493034 |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8IZQ8-1) Also known as: Myocardin-A; 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: Q8IZQ8-2) Also known as: Myocardin-C; The sequence of this isoform differs from the canonical sequence as follows: 1-96: Missing. 686-686: Q → QNSGAHDGHPPSFSPHSSSLHPPFSGAQADSSHGAGGNPCPKSPCVQQK 730-732: QMT → VTM 733-938: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q8IZQ8-3) Also known as: Myocardin-B; The sequence of this isoform differs from the canonical sequence as follows: 686-686: Q → QNSGAHDGHPPSFSPHSSSLHPPFSGAQADSSHGAGGNPCPKSPCVQQK |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 938 | 938 | Myocardin | PRO_0000126631 | |||||
Regions | |||||||||
| Repeat | 18 – 43 | 26 | RPEL 1 | ||||||
| Repeat | 62 – 87 | 26 | RPEL 2 | ||||||
| Repeat | 106 – 131 | 26 | RPEL 3 | ||||||
| Domain | 371 – 405 | 35 | SAP | ||||||
| Region | 153 – 205 | 53 | HDAC5-binding By similarity | ||||||
| Coiled coil | 516 – 561 | 46 | Potential | ||||||
| Motif | 12 – 27 | 16 | MEF2C-binding By similarity | ||||||
| Compositional bias | 291 – 322 | 32 | Gln-rich | ||||||
| Compositional bias | 435 – 508 | 74 | Ser-rich | ||||||
Amino acid modifications | |||||||||
| Modified residue | 451 | 1 | Phosphoserine; by GSK3-beta By similarity | ||||||
| Modified residue | 455 | 1 | Phosphoserine; by GSK3-beta By similarity | ||||||
| Modified residue | 459 | 1 | Phosphoserine; by GSK3-beta By similarity | ||||||
| Modified residue | 463 | 1 | Phosphoserine; by GSK3-beta By similarity | ||||||
| Modified residue | 626 | 1 | Phosphoserine; by GSK3-beta By similarity | ||||||
| Modified residue | 630 | 1 | Phosphoserine; by GSK3-beta By similarity | ||||||
| Modified residue | 634 | 1 | Phosphoserine; by GSK3-beta By similarity | ||||||
| Modified residue | 638 | 1 | Phosphoserine; by GSK3-beta By similarity | ||||||
| Modified residue | 815 | 1 | Phosphoserine; by MAPK1 AND MAPK3 By similarity | ||||||
| Modified residue | 862 | 1 | Phosphoserine; by MAPK1 and MAPK3 By similarity | ||||||
| Modified residue | 869 | 1 | Phosphoserine; by MAPK1 and MAPK3 By similarity | ||||||
| Modified residue | 896 | 1 | Phosphothreonine; by MAPK1 and MAPK3 By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 96 | 96 | Missing in isoform 2. | VSP_007658 | |||||
| Alternative sequence | 686 | 1 | Q → QNSGAHDGHPPSFSPHSSSL HPPFSGAQADSSHGAGGNPC PKSPCVQQK in isoform 2 and isoform 3. | VSP_007659 | |||||
| Alternative sequence | 730 – 732 | 3 | QMT → VTM in isoform 2. | VSP_007660 | |||||
| Alternative sequence | 733 – 938 | 206 | Missing in isoform 2. | VSP_007661 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Potentiation of serum response factor activity by a family of myocardin-related transcription factors." Wang D.-Z., Li S., Hockemeyer D., Sutherland L., Wang Z., Schratt G., Richardson J.A., Nordheim A., Olson E.N. Proc. Natl. Acad. Sci. U.S.A. 99:14855-14860(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [2] | "Myocardin is a critical serum response factor cofactor in the transcriptional program regulating smooth muscle cell differentiation." Du K.L., Ip H.S., Li J., Chen M., Dandre F., Yu W., Lu M.M., Owens G.K., Parmacek M.S. Mol. Cell. Biol. 23:2425-2437(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), FUNCTION, TISSUE SPECIFICITY. Tissue: Heart. |
| [3] | "Activation of cardiac and smooth muscle-specific genes in primary human cells after forced expression of human myocardin." van Tuyn J., Knaan-Shanzer S., van de Watering M.J., de Graaf M., van der Laarse A., Schalij M.J., van der Wall E.E., de Vries A.A., Atsma D.E. Cardiovasc. Res. 67:245-255(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3). |
| [4] | "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] (ISOFORMS 2 AND 3). Tissue: Testis. |
| [5] | "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. Nusbaum C.Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "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 3). |
| [7] | "Myocardin mRNA is augmented in the failing myocardium: expression profiling in the porcine model and human dilated cardiomyopathy." Torrado M., Lopez E., Centeno A., Medrano C., Castro-Beiras A., Mikhailov A.T. J. Mol. Med. 81:566-577(2003) [PubMed] [Europe PMC] [Abstract] Cited for: ALTERNATIVE SPLICING (ISOFORMS 1; 2 AND 3), INDUCTION. |
| [8] | "Phenotypic modulation of smooth muscle cells through interaction of Foxo4 and myocardin." Liu Z.-P., Wang Z., Yanagisawa H., Olson E.N. Dev. Cell 9:261-270(2005) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH MLLT7. |
| [9] | "Expression and functional activity of four myocardin isoforms." Imamura M., Long X., Nanda V., Miano J.M. Gene 464:1-10(2010) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY OF ISOFORMS. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF532596 mRNA. Translation: AAN33040.1. AY764180 mRNA. Translation: AAV33439.1. AK292885 mRNA. Translation: BAF85574.1. AK097821 mRNA. Translation: BAC05177.1. AC005358 Genomic DNA. No translation available. BC126307 mRNA. Translation: AAI26308.1. BC143391 mRNA. Translation: AAI43392.1. |
| IPI | IPI00167260. IPI00218055. IPI00333359. |
| RefSeq | NP_001139784.1. NM_001146312.1. NP_001139785.1. NM_001146313.1. NP_705832.1. NM_153604.2. |
| UniGene | Hs.567641. |
3D structure databases | |
| ProteinModelPortal | Q8IZQ8. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q8IZQ8. 2 interactions. |
| STRING | 9606.ENSP00000341835. |
PTM databases | |
| PhosphoSite | Q8IZQ8. |
Polymorphism databases | |
| DMDM | 32363335. |
Proteomic databases | |
| PaxDb | Q8IZQ8. |
| PRIDE | Q8IZQ8. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000343344; ENSP00000341835; ENSG00000141052. ENST00000395988; ENSP00000379311; ENSG00000141052. ENST00000425538; ENSP00000401678; ENSG00000141052. |
| GeneID | 93649. |
| KEGG | hsa:93649. |
| UCSC | uc002gnn.2. human. uc002gno.2. human. uc002gnp.1. human. |
Organism-specific databases | |
| CTD | 93649. |
| GeneCards | GC17P012569. |
| H-InvDB | HIX0027347. |
| HGNC | HGNC:16067. MYOCD. |
| HPA | CAB046485. |
| MIM | 606127. gene. |
| neXtProt | NX_Q8IZQ8. |
| PharmGKB | PA134946896. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG79803. |
| HOGENOM | HOG000038001. |
| HOVERGEN | HBG036493. |
| OMA | SFTESPW. |
| OrthoDB | EOG4640BZ. |
| PhylomeDB | Q8IZQ8. |
Gene expression databases | |
| ArrayExpress | Q8IZQ8. |
| Bgee | Q8IZQ8. |
| CleanEx | HS_MYOCD. |
| Genevestigator | Q8IZQ8. |
| GermOnline | ENSG00000141052. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.10.720.30. 1 hit. |
| InterPro | IPR004018. RPEL_repeat. IPR003034. SAP_dom. [Graphical view] |
| Pfam | PF02755. RPEL. 1 hit. PF02037. SAP. 1 hit. [Graphical view] |
| SMART | SM00707. RPEL. 3 hits. SM00513. SAP. 1 hit. [Graphical view] |
| PROSITE | PS51073. RPEL. 3 hits. PS50800. SAP. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 93649. |
| NextBio | 78180. |
| SOURCE | Search... |
Entry information
| Entry name | MYCD_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8IZQ8 Secondary accession number(s): Q5UBU5, Q8N7Q1 | ||||||||
| Entry history |
| ||||||||
| 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 |
| 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
