Reviewed,
UniProtKB/Swiss-Prot Q5U623 (MCAF2_HUMAN)
Last modified
November 24, 2009.
Version 50.
History...
Clusters with 100%,
90%,
50% identity |
Documents (4) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Activating transcription factor 7-interacting protein 2 Alternative name(s): MBD1-containing chromatin-associated factor 2 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Complete 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 | 682 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| 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 'Lys-9' trimethylation 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. |
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 |
| Gene Ontology (GO) | |
| Biological process | regulation of transcription Inferred from electronic annotation. Source: UniProtKB-KW transcriptionInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell |
| 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 | ||||||
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: dbSNP rs34834862. | VAR_053872 | |||||
| Natural variant | 537 | 1 | T → I: dbSNP rs9932051. | VAR_031286 | |||||
| Natural variant | 543 | 1 | A → T: dbSNP rs9931441. | 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
| [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. |
Cross-references
Sequence databases | |
|---|---|
| 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. |
| UniGene | Hs.513343 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q5U623. |
Proteomic databases | |
| PRIDE | Q5U623. |
Genome annotation databases | |
| Ensembl | ENST00000356427; ENSP00000348799; ENSG00000166669; Homo sapiens. [Genome view] ENST00000396560; ENSP00000379808; ENSG00000166669; Homo sapiens. [Genome view] |
| 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. |
| PharmGKB | PA134988230. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q5U623. |
| OMA | FLCHENS |
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 Resources | |
| NextBio | 70263. |
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 project | HPI (Human Proteome Initiative) | ||||||||
| 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 |
| SIMILARITY comments Index of protein domains and families |

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