Q13137 (CACO2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 96.
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: Calcium-binding and coiled-coil domain-containing protein 2 Alternative name(s): Antigen nuclear dot 52 kDa protein Nuclear domain 10 protein NDP52 Short name=Nuclear domain 10 protein 52 Nuclear dot protein 52 | ||||
| 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 | 446 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | May play a role in ruffle formation and actin cytoskeleton organization. Seems to negatively regulate constitutive secretion. Ref.10 |
| Subunit structure | Part of a complex consisting of CALCOCO2, TAX1BP1 and MYO6. Interacts with GEMIN4. Ref.9 Ref.10 |
| Subcellular location | Cytoplasm › perinuclear region. Golgi apparatus. Cytoplasm › cytoskeleton. Note: According to Ref.1, localizes to nuclear dots. According to Ref.8 and Ref.9, it is not a nuclear dot-associated protein but localizes predominantly in the cytoplasm with a coarse-grained distribution preferentially close to the nucleus. Ref.1 Ref.8 Ref.9 |
| Tissue specificity | Expressed in all tissues tested with highest expression in skeletal muscle and lowest in brain. Ref.1 |
| Miscellaneous | According to Ref.1, HSV-1 infection removes CALCOCO2 from the nucleus, however, it remains faintly in areas shown to be domains, containing splicing components. Treatment with IFNB1/IFN-beta and IFNG/IFN-gamma show an increase in number and size of CALCOCO2-specific dots and partial redistribution to the cytoplasm. According to Ref.8, IFNG/IFN-gamma increases gene expression only slightly and IFNB does not increase expression. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm Cytoskeleton Golgi apparatus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil |
| Technical term | 3D-structure Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | response to interferon-gamma Inferred from direct assay Ref.8. Source: BHF-UCL viral reproductionTraceable author statement Ref.1. Source: ProtInc |
| Cellular_component | Golgi apparatus Inferred from electronic annotation. Source: UniProtKB-SubCell cytoskeletonInferred from electronic annotation. Source: UniProtKB-SubCell nucleusInferred from direct assay. Source: HPA perinuclear region of cytoplasmInferred from direct assay Ref.8. Source: BHF-UCL |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| MAVS | Q7Z434 | 3 | EBI-739580,EBI-995373 | |
| MTPAP | Q9NVV4 | 2 | EBI-739580,EBI-2556166 | |
| TBK1 | Q9UHD2 | 5 | EBI-739580,EBI-356402 |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q13137-1) 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: Q13137-2) The sequence of this isoform differs from the canonical sequence as follows: 139-180: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 446 | 446 | Calcium-binding and coiled-coil domain-containing protein 2 | PRO_0000312337 | |||||
Regions | |||||||||
| Region | 395 – 446 | 52 | Interaction with MYO6 | ||||||
| Coiled coil | 137 – 349 | 213 | Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 139 – 180 | 42 | Missing in isoform 2. | VSP_044728 | |||||
| Natural variant | 140 | 1 | G → E. Corresponds to variant rs550510 [ dbSNP | Ensembl ]. | VAR_037489 | |||||
| Natural variant | 227 | 1 | G → R. Corresponds to variant rs2303016 [ dbSNP | Ensembl ]. | VAR_037490 | |||||
| Natural variant | 248 | 1 | V → A. Ref.2 Ref.3 Corresponds to variant rs2303015 [ dbSNP | Ensembl ]. | VAR_037491 | |||||
| Natural variant | 273 | 1 | T → A. Ref.7 Corresponds to variant rs17849804 [ dbSNP | Ensembl ]. | VAR_037492 | |||||
| Natural variant | 389 | 1 | P → A. Ref.4 Ref.6 Corresponds to variant rs10278 [ dbSNP | Ensembl ]. | VAR_037493 | |||||
Experimental info | |||||||||
| Mutagenesis | 400 | 1 | C → A: Loss of interaction with MYO6. Ref.10 | ||||||
| Mutagenesis | 425 | 1 | C → A: No effect on interaction with MYO6. Ref.10 | ||||||
| Sequence conflict | 102 | 1 | D → Y in BAG64382. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Molecular characterization of NDP52, a novel protein of the nuclear domain 10, which is redistributed upon virus infection and interferon treatment." Korioth F., Gieffers C., Maul G.G., Frey J. J. Cell Biol. 130:1-13(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE SPECIFICITY. |
| [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT ALA-248. Tissue: Thymus. |
| [3] | "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ALA-248. |
| [4] | Suzuki Y., Sugano S., 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] (ISOFORM 1), VARIANT ALA-389. Tissue: Brain and Gastric mucosa. |
| [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] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ALA-389. |
| [7] | "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 1), VARIANT ALA-273. Tissue: Kidney and Skin. |
| [8] | "Cellular localization, expression, and structure of the nuclear dot protein 52." Sternsdorf T., Jensen K., Zuchner D., Will H. J. Cell Biol. 138:435-448(1997) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION. |
| [9] | "HCC-associated protein HCAP1, a variant of GEMIN4, interacts with zinc-finger proteins." Di Y., Li J., Zhang Y., He X., Lu H., Xu D., Ling J., Huo K., Wan D., Li Y.Y., Gu J. J. Biochem. 133:713-718(2003) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH GEMIN4, SUBCELLULAR LOCATION. |
| [10] | "T6BP and NDP52 are myosin VI binding partners with potential roles in cytokine signalling and cell adhesion." Morriswood B., Ryzhakov G., Puri C., Arden S.D., Roberts R., Dendrou C., Kendrick-Jones J., Buss F. J. Cell Sci. 120:2574-2585(2007) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH TAX1BP1 AND MYO6, MUTAGENESIS OF CYS-400 AND CYS-425. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | U22897 mRNA. Translation: AAA75297.1. AK303313 mRNA. Translation: BAG64382.1. AK314796 mRNA. Translation: BAG37327.1. CR456763 mRNA. Translation: CAG33044.1. AK222666 mRNA. Translation: BAD96386.1. AK223227 mRNA. Translation: BAD96947.1. AC068531 Genomic DNA. No translation available. CH471109 Genomic DNA. Translation: EAW94707.1. BC004130 mRNA. Translation: AAH04130.1. BC015893 mRNA. Translation: AAH15893.1. | ||||||||||||||||||
| IPI | IPI00908968. IPI00965684. | ||||||||||||||||||
| PIR | A56733. | ||||||||||||||||||
| RefSeq | NP_001248322.1. NM_001261393.1. NP_005822.1. NM_005831.4. | ||||||||||||||||||
| UniGene | Hs.514920. | ||||||||||||||||||
3D structure databases | |||||||||||||||||||
| PDBe RCSB PDB PDBj |
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| ProteinModelPortal | Q13137. | ||||||||||||||||||
| ModBase | Search... | ||||||||||||||||||
Protein-protein interaction databases | |||||||||||||||||||
| DIP | DIP-57534N. | ||||||||||||||||||
| IntAct | Q13137. 64 interactions. | ||||||||||||||||||
| MINT | MINT-270155. | ||||||||||||||||||
| STRING | 9606.ENSP00000258947. | ||||||||||||||||||
PTM databases | |||||||||||||||||||
| PhosphoSite | Q13137. | ||||||||||||||||||
Polymorphism databases | |||||||||||||||||||
| DMDM | 74735623. | ||||||||||||||||||
Proteomic databases | |||||||||||||||||||
| PaxDb | Q13137. | ||||||||||||||||||
| PRIDE | Q13137. | ||||||||||||||||||
Protocols and materials databases | |||||||||||||||||||
| DNASU | 10241. | ||||||||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||||||||
Genome annotation databases | |||||||||||||||||||
| Ensembl | ENST00000258947; ENSP00000258947; ENSG00000136436. ENST00000416445; ENSP00000406974; ENSG00000136436. | ||||||||||||||||||
| GeneID | 10241. | ||||||||||||||||||
| KEGG | hsa:10241. | ||||||||||||||||||
| UCSC | uc002iof.3. human. | ||||||||||||||||||
Organism-specific databases | |||||||||||||||||||
| CTD | 10241. | ||||||||||||||||||
| GeneCards | GC17P046908. | ||||||||||||||||||
| H-InvDB | HIX0013950. | ||||||||||||||||||
| HGNC | HGNC:29912. CALCOCO2. | ||||||||||||||||||
| HPA | HPA022989. HPA023019. HPA023195. | ||||||||||||||||||
| MIM | 604587. gene. | ||||||||||||||||||
| neXtProt | NX_Q13137. | ||||||||||||||||||
| PharmGKB | PA143485407. | ||||||||||||||||||
| GenAtlas | Search... | ||||||||||||||||||
Phylogenomic databases | |||||||||||||||||||
| eggNOG | NOG87904. | ||||||||||||||||||
| HOGENOM | HOG000050230. | ||||||||||||||||||
| HOVERGEN | HBG104102. | ||||||||||||||||||
| InParanoid | Q13137. | ||||||||||||||||||
| PhylomeDB | Q13137. | ||||||||||||||||||
Gene expression databases | |||||||||||||||||||
| ArrayExpress | Q13137. | ||||||||||||||||||
| Bgee | Q13137. | ||||||||||||||||||
| CleanEx | HS_CALCOCO2. | ||||||||||||||||||
| Genevestigator | Q13137. | ||||||||||||||||||
Family and domain databases | |||||||||||||||||||
| InterPro | IPR012852. CoCoA. [Graphical view] | ||||||||||||||||||
| Pfam | PF07888. CALCOCO1. 1 hit. [Graphical view] | ||||||||||||||||||
| ProtoNet | Search... | ||||||||||||||||||
Other | |||||||||||||||||||
| ChiTaRS | CALCOCO2. human. | ||||||||||||||||||
| GenomeRNAi | 10241. | ||||||||||||||||||
| NextBio | 38796. | ||||||||||||||||||
| SOURCE | Search... | ||||||||||||||||||
Entry information
| Entry name | CACO2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q13137 Secondary accession number(s): B2RBT0 Q9BTF7 | ||||||||
| 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 |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |

Clusters with
