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Reviewed, UniProtKB/Swiss-Prot Q9ULD2 (MTUS1_HUMAN)

Last modified November 4, 2008. Version 42. Feed History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Mitochondrial tumor suppressor 1
Alternative name(s):
    Angiotensin-II type 2 receptor-interacting protein
Gene names
Name: MTUS1
Synonyms: ATIP, GK1, KIAA1288, MTSG1
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1270 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence 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 processCell cycle
   Cellular componentCell membrane
Golgi apparatus
Membrane
Mitochondrion
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
   DomainCoiled coil
   Molecular functionAnti-oncogene
   PTMPhosphoprotein

Gene Ontology (GO)

   Biological processnegative regulation of cell cycle

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular componentGolgi apparatus

Inferred from electronic annotation. Source: UniProtKB-KW

mitochondrion

Inferred from electronic annotation. Source: UniProtKB-KW

nucleus

Inferred from electronic annotation. Source: UniProtKB-KW

plasma membrane

Inferred 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 12701270Mitochondrial tumor suppressor 1
PRO_0000305197

Regions

Coiled coil940 – 1231292 Potential

Amino acid modifications

Modified residue3811Phosphoserine By similarity
Modified residue4431Phosphoserine
Modified residue6201Phosphoserine By similarity
Modified residue12451Phosphoserine By similarity
Modified residue12551Phosphoserine By similarity
Modified residue12641Phosphoserine
Modified residue12661Phosphoserine By similarity
Modified residue12681Phosphoserine

Natural variations

Alternative sequence1 – 928928Missing in isoform 4.
VSP_028270
Alternative sequence1 – 834834Missing in isoform 3.
VSP_028271
Alternative sequence1 – 753753Missing in isoform 6.
VSP_028272
Alternative sequence754 – 81764QRIRR…YSNNS → MTVPGGFRSCTETDISSKIF INSTLTPPAGSERHYDATLL TLLVVGSYSLCIIPLLATFT GKKT in isoform 6.
VSP_028273
Alternative sequence763 – 81755GKPTS…YSNNS → A in isoform 2.
VSP_028274
Alternative sequence763 – 7708GKPTSLKT → VLPKAAFS in isoform 5.
VSP_028275
Alternative sequence771 – 1270500Missing in isoform 5.
VSP_028276
Alternative sequence835 – 87440QNGSS…TALNA → MLLSPKFSLSTIHIRLTAKG LLRNLRLPSGFRRSTVVFHT in isoform 3.
VSP_028277
Alternative sequence929 – 94618GNTKF…HLLSE → MGCPSSKLCLYSPCAATR in isoform 4.
VSP_028278
Natural variant751Q → K in HCC.
VAR_035173
Natural variant1481C → R: dbSNP rs3739407.
VAR_035174
Natural variant1861T → S in HNSCC cell lines.
VAR_035175
Natural variant4251T → M
VAR_035176
Natural variant4531K → T: dbSNP rs17690844.
VAR_035177
Natural variant5631A → S in HCC.
VAR_035178
Natural variant5751H → R: dbSNP rs209569.
VAR_035179
Natural variant8731N → H in HCC.
VAR_035180
Natural variant9111K → T
VAR_035181
Natural variant10631K → T: dbSNP rs17853231.
VAR_035182
Natural variant11051E → Q
VAR_035183
Natural variant12011Q → R in HCC.
VAR_035184

Experimental info

Sequence conflict2661C → G in CAB50791. Ref.5
Sequence conflict9991E → G in CAH56128. Ref.5
Sequence conflict11491I → T in BAB14894. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (ATIP3a) [UniParc].

Last modified October 2, 2007. Version 2.
Checksum: 2EAE962F627BFFE3

FASTA1,270141,397
        10         20         30         40         50         60 
MTDDNSDDKI EDELQTFFTS DKDGNTHAYN PKSPPTQNSS ASSVNWNSAN PDDMVVDYET 

        70         80         90        100        110        120 
DPAVVTGENI SLSLQGVEVF GHEKSSSDFI SKQVLDMHKD SICQCPALVG TEKPKYLQHS 

       130        140        150        160        170        180 
CHSLEAVEGQ SVEPSLPFVW KPNDNLNCAG YCDALELNQT FDMTVDKVNC TFISHHAIGK 

       190        200        210        220        230        240 
SQSFHTAGSL PPTGRRSGST SSLSYSTWTS SHSDKTHARE TTYDRESFEN PQVTPSEAQD 

       250        260        270        280        290        300 
MTYTAFSDVV MQSEVFVSDI GNQCACSSGK VTSEYTDGSQ QRLVGEKETQ ALTPVSDGME 

       310        320        330        340        350        360 
VPNDSALQEF FCLSHDESNS EPHSQSSYRH KEMGQNLRET VSYCLIDDEC PLMVPAFDKS 

       370        380        390        400        410        420 
EAQVLNPEHK VTETEDTQMV SKGKDLGTQN HTSELILSSP PGQKVGSSFG LTWDANDMVI 

       430        440        450        460        470        480 
STDKTMCMST PVLEPTKVTF SVSPIEATEK CKKVEKGNRG LKNIPDSKEA PVNLCKPSLG 

       490        500        510        520        530        540 
KSTIKTNTPI GCKVRKTEII SYPRPNFKNV KAKVMSRAVL QPKDAALSKV TPRPQQTSAS 

       550        560        570        580        590        600 
SPSSVNSRQQ TVLSRTPRSD LNADKKAEIL INKTHKQQFN KLITSQAVHV TTHSKNASHR 

       610        620        630        640        650        660 
VPRTTSAVKS NQEDVDKASS SNSACETGSV SALFQKIKGI LPVKMESAEC LEMTYVPNID 

       670        680        690        700        710        720 
RISPEKKGEK ENGTSMEKQE LKQEIMNETF EYGSLFLGSA SKTTTTSGRN ISKPDSCGLR 

       730        740        750        760        770        780 
QIAAPKAKVG PPVSCLRRNS DNRNPSADRA VSPQRIRRVS SSGKPTSLKT AQSSWVNLPR 

       790        800        810        820        830        840 
PLPKSKASLK SPALRRTGST PSIASTHSEL STYSNNSGNA AVIKYEEKPP KPAFQNGSSG 

       850        860        870        880        890        900 
SFYLKPLVSR AHVHLMKTPP KGPSRKNLFT ALNAVEKSRQ KNPRSLCIQP QTAPDALPPE 

       910        920        930        940        950        960 
KTLELTQYKT KCENQSGFIL QLKQLLACGN TKFEALTVVI QHLLSEREEA LKQHKTLSQE 

       970        980        990       1000       1010       1020 
LVNLRGELVT ASTTCEKLEK ARNELQTVYE AFVQQHQAEK TERENRLKEF YTREYEKLRD 

      1030       1040       1050       1060       1070       1080 
TYIEEAEKYK MQLQEQFDNL NAAHETSKLE IEASHSEKLE LLKKAYEASL SEIKKGHEIE 

      1090       1100       1110       1120       1130       1140 
KKSLEDLLSE KQESLEKQIN DLKSENDALN EKLKSEEQKR RAREKANLKN PQIMYLEQEL 

      1150       1160       1170       1180       1190       1200 
ESLKAVLEIK NEKLHQQDIK LMKMEKLVDN NTALVDKLKR FQQENEELKA RMDKHMAISR 

      1210       1220       1230       1240       1250       1260 
QLSTEQAVLQ ESLEKESKVN KRLSMENEEL LWKLHNGDLC SPKRSPTSSA IPLQSPRNSG 

      1270 
SFPSPSISPR 

« Hide

Isoform 2 (ATIP3b) [UniParc].

Checksum: ECC10DC1CA22BF72
Show »

1,216135,661
Isoform 3 (ATIP1) [UniParc].

Checksum: 196002F8C8D9A6DD
Show »

43650,544
Isoform 4 [UniParc].

Checksum: 20C0995FFE927E24
Show »

34239,775
Isoform 5 (ATIP2) [UniParc].

Checksum: 46E8EA82686165D8
Show »

77084,252
Isoform 6 (ATIP4) [UniParc].

Checksum: 43755CC4B064F012
Show »

51758,988

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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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.,