Q5U623 (MCAF2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 66.
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: Activating transcription factor 7-interacting protein 2 Short name=ATF7-interacting protein 2 Alternative name(s): MBD1-containing chromatin-associated factor 2 | ||||
| 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 | 682 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Recruiter that couples transcriptional factors to general transcription apparatus and thereby modulates transcription regulation and chromatin formation. Can both act as an activator or a repressor depending on the context. Mediates MBD1-dependent transcriptional repression, probably by recruiting complexes containing SETDB1. The complex formed with MBD1 and SETDB1 represses transcription and probably couples DNA methylation and histone H3 'Lys-9' trimethylation (H3K9me3) activity Probable. |
| Subunit structure | Interacts with MBD1, SETDB1 and SP1. Probably forms a complex with SETDB1 and MBD1. |
| Subcellular location | |
| Sequence similarities | Belongs to the MCAF family. Contains 1 fibronectin type-III domain. |
| Sequence caution | The sequence BAB14209.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Transcription Transcription regulation |
| Cellular component | Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil Repeat |
| Molecular function | Activator Repressor |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependentInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | cytoplasm Inferred from direct assay. Source: HPA nucleolusInferred from direct assay. Source: HPA |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q5U623-1) 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: Q5U623-2) The sequence of this isoform differs from the canonical sequence as follows: 495-543: AVQKKLDSII...KETTPLAQNA → KVQYPPWSHI...SQNHQHHYLN 544-682: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 682 | 682 | Activating transcription factor 7-interacting protein 2 | PRO_0000281784 | |||||
Regions | |||||||||
| Domain | 572 – 674 | 103 | Fibronectin type-III | ||||||
| Coiled coil | 328 – 378 | 51 | Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 488 | 1 | Phosphoserine Ref.6 | ||||||
Natural variations | |||||||||
| Alternative sequence | 495 – 543 | 49 | AVQKK…LAQNA → KVQYPPWSHIRKLLQTQRKQ PHWHKMQSRFLSPLSTCHLS QNHQHHYLN in isoform 2. | VSP_024042 | |||||
| Alternative sequence | 544 – 682 | 139 | Missing in isoform 2. | VSP_024043 | |||||
| Natural variant | 527 | 1 | S → L. Corresponds to variant rs34834862 [ dbSNP | Ensembl ]. | VAR_053872 | |||||
| Natural variant | 537 | 1 | T → I. Corresponds to variant rs9932051 [ dbSNP | Ensembl ]. | VAR_031286 | |||||
| Natural variant | 543 | 1 | A → T. Corresponds to variant rs9931441 [ dbSNP | Ensembl ]. | VAR_031287 | |||||
Experimental info | |||||||||
| Sequence conflict | 61 | 1 | Missing in AAT66299. Ref.1 | ||||||
| Sequence conflict | 61 | 1 | Missing in AAH33891. Ref.3 | ||||||
| Sequence conflict | 470 | 1 | I → T in BAB14209. Ref.2 | ||||||
| Sequence conflict | 555 | 1 | P → L in BAD97212. Ref.5 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Transcriptional repression and heterochromatin formation by MBD1 and MCAF/AM family proteins." Ichimura T., Watanabe S., Sakamoto Y., Aoto T., Fujita N., Nakao M. J. Biol. Chem. 280:13928-13935(2005) [PubMed: 15691849] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [2] | "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] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 339-682 (ISOFORM 1). Tissue: Teratocarcinoma and Testis. |
| [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 1). Tissue: Lung 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., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 19-398 (ISOFORM 1). Tissue: Stomach. |
| [5] | Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 324-681 (ISOFORM 1). |
| [6] | "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-488, MASS SPECTROMETRY. Tissue: Embryonic kidney. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY560615 mRNA. Translation: AAT66299.1. AK022730 mRNA. Translation: BAB14209.1. Different initiation. AK093414 mRNA. Translation: BAC04157.1. BC033891 mRNA. Translation: AAH33891.1. BC069713 mRNA. Translation: AAH69713.1. BC069730 mRNA. Translation: AAH69730.1. BC069695 mRNA. Translation: AAH69695.1. BC137079 mRNA. Translation: AAI37080.1. AL832987 mRNA. Translation: CAH56323.1. AK223492 mRNA. Translation: BAD97212.1. |
| IPI | IPI00167841. IPI00411827. |
| RefSeq | NP_079273.2. NM_024997.2. |
| UniGene | Hs.513343. |
3D structure databases | |
| ProteinModelPortal | Q5U623. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q5U623. |
Polymorphism databases | |
| DMDM | 143352739. |
Proteomic databases | |
| PRIDE | Q5U623. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000356427; ENSP00000348799; ENSG00000166669. ENST00000396560; ENSP00000379808; ENSG00000166669. |
| GeneID | 80063. |
| KEGG | hsa:80063. |
| UCSC | uc002czu.1. human. uc002czv.1. human. |
Organism-specific databases | |
| CTD | 80063. |
| GeneCards | GC16P010430. |
| H-InvDB | HIX0012811. |
| HGNC | HGNC:20397. ATF7IP2. |
| HPA | HPA041156. HPA041228. |
| MIM | 613645. gene. |
| neXtProt | NX_Q5U623. |
| PharmGKB | PA134988230. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG16404. |
| GeneTree | ENSGT00530000063707. |
| HOVERGEN | HBG094861. |
| InParanoid | Q5U623. |
| OMA | VPESFEH. |
| PhylomeDB | Q5U623. |
Gene expression databases | |
| ArrayExpress | Q5U623. |
| Bgee | Q5U623. |
| CleanEx | HS_ATF7IP2. |
| Genevestigator | Q5U623. |
Family and domain databases | |
| PROSITE | PS50853. FN3. False negative. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 70263. |
| SOURCE | Search... |
Entry information
| Entry name | MCAF2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q5U623 Secondary accession number(s): B2RNR2 Q9H9L6 | ||||||||
| 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 16 Human chromosome 16: 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