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UniProtKB/Swiss-Prot Q9ULD2 (MTUS1_HUMAN)
Last modified
November 4, 2008.
Version 42.
History...
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90%,
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Names and origin
| Protein names | Recommended name: Mitochondrial tumor suppressor 1 Alternative name(s): Angiotensin-II type 2 receptor-interacting protein | ||||
| 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 | 1270 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Cooperates with AGTR2 to inhibit ERK2 activation and cell proliferation. May be required for AGTR2 cell surface expression. Together with PTPN6, induces UBE2V2 expression upon angiotensin-II stimulation. |
| Subunit structure | Homodimer. Interacts with AGTR2. Interacts with PTPN6 By similarity. |
| Subcellular location | Mitochondrion. Golgi apparatusBy similarity. Cell membraneBy similarity. NucleusBy similarity. Note= In neurons, translocates into the nucleus after treatment with angiotensin-II By similarity. |
| Tissue specificity | Ubiquitously expressed (at protein level). Highly expressed in brain. Down-regulated in ovarian carcinoma, pancreas carcinoma, colon carcinoma and head and neck squamous cell carcinoma (HNSCC). |
| Involvement in disease | Defects in MTUS1 may be a cause of hepatocellular carcinoma (HCC) [MIM:114550]. |
| Sequence similarities | Belongs to the MTUS1 family. |
| Sequence caution | The sequence AAH07328.1 differs from that shown. Reason: Miscellaneous discrepancy. Contaminating sequence. Potential poly-A sequence. |
Ontologies
Keywords | |
|---|---|
| Biological process | Cell cycle |
| Cellular component | Cell membrane Golgi apparatus Membrane Mitochondrion Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Disease mutation |
| Domain | Coiled coil |
| Molecular function | Anti-oncogene |
| PTM | Phosphoprotein |
Gene Ontology (GO) | |
| Biological process | negative regulation of cell cycle Inferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | Golgi apparatus Inferred from electronic annotation. Source: UniProtKB-KW mitochondrionInferred from electronic annotation. Source: UniProtKB-KW nucleusInferred from electronic annotation. Source: UniProtKB-KW plasma membraneInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 6 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9ULD2-1) Also known as: ATIP3a; 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. | ||||||
| Notes: Major in most peripheral tissues. | ||||||
| Isoform 2 (identifier: Q9ULD2-2) Also known as: ATIP3b; The sequence of this isoform differs from the canonical sequence as follows: 763-817: GKPTSLKTAQSSWVNLPRPLPKSKASLKSPALRRTGSTPSIASTHSELSTYSNNS → A | ||||||
| Notes: Abundant in most peripheral tissues. | ||||||
| Isoform 3 (identifier: Q9ULD2-3) Also known as: ATIP1; The sequence of this isoform differs from the canonical sequence as follows: 1-834: Missing. 835-874: QNGSSGSFYL...RKNLFTALNA → MLLSPKFSLS...FRRSTVVFHT | ||||||
| Notes: Major in brain, female reproductive tissues, thyroid and heart. Within brain, highly expressed in corpus callosum and pons. | ||||||
| Isoform 4 (identifier: Q9ULD2-4) The sequence of this isoform differs from the canonical sequence as follows: 1-928: Missing. 929-946: GNTKFEALTVVIQHLLSE → MGCPSSKLCLYSPCAATR | ||||||
| Isoform 5 (identifier: Q9ULD2-5) Also known as: ATIP2; The sequence of this isoform differs from the canonical sequence as follows: 763-770: GKPTSLKT → VLPKAAFS 771-1270: Missing. | ||||||
| Notes: Expressed at very low levels in most tissues. | ||||||
| Isoform 6 (identifier: Q9ULD2-6) Also known as: ATIP4; The sequence of this isoform differs from the canonical sequence as follows: 1-753: Missing. 754-817: QRIRRVSSSG...SELSTYSNNS → MTVPGGFRSC...LLATFTGKKT | ||||||
| Notes: Brain-specific. Major in cerebellum and fetal brain. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1270 | 1270 | Mitochondrial tumor suppressor 1 | PRO_0000305197 | |||||
Regions | |||||||||
| Coiled coil | 940 – 1231 | 292 | Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 381 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 443 | 1 | Phosphoserine | ||||||
| Modified residue | 620 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1245 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1255 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1264 | 1 | Phosphoserine | ||||||
| Modified residue | 1266 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1268 | 1 | Phosphoserine | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 928 | 928 | Missing in isoform 4. | VSP_028270 | |||||
| Alternative sequence | 1 – 834 | 834 | Missing in isoform 3. | VSP_028271 | |||||
| Alternative sequence | 1 – 753 | 753 | Missing in isoform 6. | VSP_028272 | |||||
| Alternative sequence | 754 – 817 | 64 | QRIRR…YSNNS → MTVPGGFRSCTETDISSKIF INSTLTPPAGSERHYDATLL TLLVVGSYSLCIIPLLATFT GKKT in isoform 6. | VSP_028273 | |||||
| Alternative sequence | 763 – 817 | 55 | GKPTS…YSNNS → A in isoform 2. | VSP_028274 | |||||
| Alternative sequence | 763 – 770 | 8 | GKPTSLKT → VLPKAAFS in isoform 5. | VSP_028275 | |||||
| Alternative sequence | 771 – 1270 | 500 | Missing in isoform 5. | VSP_028276 | |||||
| Alternative sequence | 835 – 874 | 40 | QNGSS…TALNA → MLLSPKFSLSTIHIRLTAKG LLRNLRLPSGFRRSTVVFHT in isoform 3. | VSP_028277 | |||||
| Alternative sequence | 929 – 946 | 18 | GNTKF…HLLSE → MGCPSSKLCLYSPCAATR in isoform 4. | VSP_028278 | |||||
| Natural variant | 75 | 1 | Q → K in HCC. | VAR_035173 | |||||
| Natural variant | 148 | 1 | C → R: dbSNP rs3739407. | VAR_035174 | |||||
| Natural variant | 186 | 1 | T → S in HNSCC cell lines. | VAR_035175 | |||||
| Natural variant | 425 | 1 | T → M | VAR_035176 | |||||
| Natural variant | 453 | 1 | K → T: dbSNP rs17690844. | VAR_035177 | |||||
| Natural variant | 563 | 1 | A → S in HCC. | VAR_035178 | |||||
| Natural variant | 575 | 1 | H → R: dbSNP rs209569. | VAR_035179 | |||||
| Natural variant | 873 | 1 | N → H in HCC. | VAR_035180 | |||||
| Natural variant | 911 | 1 | K → T | VAR_035181 | |||||
| Natural variant | 1063 | 1 | K → T: dbSNP rs17853231. | VAR_035182 | |||||
| Natural variant | 1105 | 1 | E → Q | VAR_035183 | |||||
| Natural variant | 1201 | 1 | Q → R in HCC. | VAR_035184 | |||||
Experimental info | |||||||||
| Sequence conflict | 266 | 1 | C → G in CAB50791. Ref.5 | ||||||
| Sequence conflict | 999 | 1 | E → G in CAH56128. Ref.5 | ||||||
| Sequence conflict | 1149 | 1 | I → T in BAB14894. Ref.4 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Molecular cloning and characterization of two novel genes on chromosome 8p21.3." Kinjo T., Isomura M., Iwamasa T., Nakamura Y. J. Hum. Genet. 45:12-17(2000) [PubMed: 10697957] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, SUBCELLULAR LOCATION. |
| [2] | "Identification of a new tumor suppressor gene located at chromosome 8p21.3-22." Seibold S., Rudroff C., Weber M., Galle J., Wanner C., Marx M. FASEB J. 17:1180-1182(2003) [PubMed: 12692079] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION. |
| [3] | "Trans-inactivation of receptor tyrosine kinases by novel angiotensin II AT2 receptor-interacting protein, ATIP." Nouet S., Amzallag N., Li J.-M., Louis S., Seitz I., Cui T.-X., Alleaume A.-M., Di Benedetto M., Boden C., Masson M., Strosberg A.D., Horiuchi M., Couraud P.-O., Nahmias C. J. Biol. Chem. 279:28989-28997(2004) [PubMed: 15123706] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), ALTERNATIVE SPLICING (ISOFORMS 1; 5 AND 6), SUBUNIT, TISSUE SPECIFICITY. Tissue: Lung. |
| [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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 875-1270 (ISOFORM 1). Tissue: Fetal brain and Placenta. |
| [5] | The German cDNA consortium Submitted (SEP-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 266-1270 (ISOFORM 5). Tissue: Salivary gland and Uterus. |
| [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 681-1270 (ISOFORM 1), VARIANT THR-1063. Tissue: Ovary and Skin. |
| [7] | "Differential expression in normal trophoblast and gestational tumors." Abadie P.A., Genti-Raimondi S. Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-891 (ISOFORM 2), VARIANTS ARG-148 AND ARG-575. |
| [8] | "Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O. DNA Res. 6:337-345(1999) [PubMed: 10574462] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 26-1270 (ISOFORM 1). Tissue: Brain. |
| [9] | "Five genes from chromosomal band 8p22 are significantly down-regulated in ovarian carcinoma: N33 and EFA6R have a potential impact on overall survival." Pils D., Horak P., Gleiss A., Sax C., Fabjani G., Moebus V.J., Zielinski C., Reinthaller A., Zeillinger R., Krainer M. Cancer 104:2417-2429(2005) [PubMed: 16270321] [Abstract] Cited for: TISSUE SPECIFICITY. |
| [10] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., |

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