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Q8TC05

- MDM1_HUMAN

UniProt

Q8TC05 - MDM1_HUMAN

Protein

Nuclear protein MDM1

Gene

MDM1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 88 (01 Oct 2014)
      Sequence version 2 (21 Aug 2007)
      Previous versions | rss
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    Functioni

    GO - Biological processi

    1. retina development in camera-type eye Source: Ensembl

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Nuclear protein MDM1
    Gene namesi
    Name:MDM1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:29917. MDM1.

    Subcellular locationi

    Nucleus By similarity

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134879752.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 714714Nuclear protein MDM1PRO_0000299059Add
    BLAST

    Proteomic databases

    PaxDbiQ8TC05.
    PRIDEiQ8TC05.

    PTM databases

    PhosphoSiteiQ8TC05.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8TC05.
    BgeeiQ8TC05.
    CleanExiHS_MDM1.
    GenevestigatoriQ8TC05.

    Organism-specific databases

    HPAiHPA040411.
    HPA041594.

    Interactioni

    Protein-protein interaction databases

    BioGridi121220. 1 interaction.
    IntActiQ8TC05. 2 interactions.
    STRINGi9606.ENSP00000302537.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8TC05.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the MDM1 family.Curated

    Phylogenomic databases

    eggNOGiNOG72701.
    HOGENOMiHOG000113507.
    HOVERGENiHBG108124.
    InParanoidiQ8TC05.
    KOiK17886.
    OMAiHQRLGKV.
    OrthoDBiEOG7P2XVF.
    PhylomeDBiQ8TC05.
    TreeFamiTF331015.

    Family and domain databases

    InterProiIPR029136. MDM1.
    [Graphical view]
    PfamiPF15501. MDM1. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8TC05-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MPVRFKGLSE YQRNFLWKKS YLSESCNSSV GRKYPWAGLR SDQLGITKEP    50
    SFISKRRVPY HDPQISKSLE WNGAISESNV VASPEPEAPE TPKSQEAEQK 100
    DVTQERVHSL EASRVPKRTR SHSADSRAEG ASDVENNEGV TNHTPVNENV 150
    ELEHSTKVLS ENVDNGLDRL LRKKAGLTVV PSYNALRNSE YQRQFVWKTS 200
    KETAPAFAAN QVFHNKSQFV PPFKGNSVIH ETEYKRNFKG LSPVKEPKLR 250
    NDLRENRNLE TVSPERKSNK IDDRLKLEAE MELKDLHQPK RKLTPWKHQR 300
    LGKVNSEYRA KFLSPAQYLY KAGAWTHVKG NMPNQVKELR EKAEFYRKRV 350
    QGTHFSRDHL NQILSDSNCC WDVSSTTSSE GTVSSNIRAL DLAGDPTSHK 400
    TLQKCPSTEP EEKGNIVEEQ PQKNTTEKLG VSAPTIPVRR RLAWDTENTS 450
    EDVQKQPGEK EEEDDNEEEG DRKTGKQAFM GEQEKLDVRE KSKADKMKEG 500
    SDSSVSSEKG GRLPTPKLRE LGGIQRTHHD LTTPAVGGAV LVSPSKMKPP 550
    APEQRKRMTS QDCLETSKND FTKKESRAVS LLTSPAAGIK TVDPLPLRED 600
    SEDNIHKFAE ATLPVSKIPK YPTNPPGQLP SPPHVPSYWH PSRRIQGSLR 650
    DPEFQHNVGK ARMNNLQLPQ HEAFNDEDED RLSEISARSA ASSLRAFQTL 700
    ARAKKRKENF WGKT 714
    Length:714
    Mass (Da):80,735
    Last modified:August 21, 2007 - v2
    Checksum:i301E3A89A5BFF13B
    GO
    Isoform 2 (identifier: Q8TC05-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         167-222: LDRLLRKKAG...FHNKSQFVPP → VGIFTAFLFK...NRLLTLVIVN
         223-714: Missing.

    Show »
    Length:222
    Mass (Da):25,069
    Checksum:i0CC6F35EADC1F98D
    GO
    Isoform 3 (identifier: Q8TC05-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         46-69: ITKEPSFISKRRVPYHDPQISKSL → NQGRCRTKIQHSDISSLLILVCST
         70-714: Missing.

    Show »
    Length:69
    Mass (Da):7,926
    Checksum:i51190BA06D5CD344
    GO
    Isoform 4 (identifier: Q8TC05-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         167-211: Missing.
         335-335: Q → QGSLNAMWYAE

    Note: No experimental confirmation available.

    Show »
    Length:679
    Mass (Da):76,709
    Checksum:i0C31971CCCC30AFD
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti42 – 421D → Y in BAG59777. (PubMed:14702039)Curated
    Sequence conflicti458 – 4581G → E in BAG59777. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti103 – 1031T → I.1 Publication
    Corresponds to variant rs962976 [ dbSNP | Ensembl ].
    VAR_034782
    Natural varianti383 – 3831V → I.
    Corresponds to variant rs17224810 [ dbSNP | Ensembl ].
    VAR_034783
    Natural varianti489 – 4891R → H.2 Publications
    Corresponds to variant rs2306393 [ dbSNP | Ensembl ].
    VAR_034784
    Natural varianti552 – 5521P → L.1 Publication
    Corresponds to variant rs2306392 [ dbSNP | Ensembl ].
    VAR_034785

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei46 – 6924ITKEP…ISKSL → NQGRCRTKIQHSDISSLLIL VCST in isoform 3. 1 PublicationVSP_027544Add
    BLAST
    Alternative sequencei70 – 714645Missing in isoform 3. 1 PublicationVSP_027545Add
    BLAST
    Alternative sequencei167 – 22256LDRLL…QFVPP → VGIFTAFLFKSIEFFIGFIV ISVILHFVFQNFPLLFSCLM SIRIVDNRLLTLVIVN in isoform 2. 1 PublicationVSP_027546Add
    BLAST
    Alternative sequencei167 – 21145Missing in isoform 4. 1 PublicationVSP_046400Add
    BLAST
    Alternative sequencei223 – 714492Missing in isoform 2. 1 PublicationVSP_027547Add
    BLAST
    Alternative sequencei335 – 3351Q → QGSLNAMWYAE in isoform 4. 1 PublicationVSP_046401

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF267851 mRNA. Translation: AAF78952.1.
    AK297311 mRNA. Translation: BAG59777.1.
    AC022511 Genomic DNA. No translation available.
    BC022042 mRNA. Translation: AAH22042.1.
    BC028355 mRNA. Translation: AAH28355.1.
    AF007130 mRNA. Translation: AAC19149.1.
    CCDSiCCDS44938.1. [Q8TC05-2]
    CCDS55841.1. [Q8TC05-4]
    CCDS55842.1. [Q8TC05-3]
    CCDS8983.1. [Q8TC05-1]
    RefSeqiNP_001191957.1. NM_001205028.1. [Q8TC05-4]
    NP_001191958.1. NM_001205029.1. [Q8TC05-3]
    NP_059136.2. NM_017440.4. [Q8TC05-1]
    NP_064513.1. NM_020128.2. [Q8TC05-2]
    UniGeneiHs.655702.

    Genome annotation databases

    GeneIDi56890.
    KEGGihsa:56890.
    UCSCiuc001stz.2. human. [Q8TC05-1]
    uc001sua.4. human. [Q8TC05-2]
    uc010std.2. human. [Q8TC05-3]

    Polymorphism databases

    DMDMi156632525.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF267851 mRNA. Translation: AAF78952.1 .
    AK297311 mRNA. Translation: BAG59777.1 .
    AC022511 Genomic DNA. No translation available.
    BC022042 mRNA. Translation: AAH22042.1 .
    BC028355 mRNA. Translation: AAH28355.1 .
    AF007130 mRNA. Translation: AAC19149.1 .
    CCDSi CCDS44938.1. [Q8TC05-2 ]
    CCDS55841.1. [Q8TC05-4 ]
    CCDS55842.1. [Q8TC05-3 ]
    CCDS8983.1. [Q8TC05-1 ]
    RefSeqi NP_001191957.1. NM_001205028.1. [Q8TC05-4 ]
    NP_001191958.1. NM_001205029.1. [Q8TC05-3 ]
    NP_059136.2. NM_017440.4. [Q8TC05-1 ]
    NP_064513.1. NM_020128.2. [Q8TC05-2 ]
    UniGenei Hs.655702.

    3D structure databases

    ProteinModelPortali Q8TC05.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121220. 1 interaction.
    IntActi Q8TC05. 2 interactions.
    STRINGi 9606.ENSP00000302537.

    PTM databases

    PhosphoSitei Q8TC05.

    Polymorphism databases

    DMDMi 156632525.

    Proteomic databases

    PaxDbi Q8TC05.
    PRIDEi Q8TC05.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    GeneIDi 56890.
    KEGGi hsa:56890.
    UCSCi uc001stz.2. human. [Q8TC05-1 ]
    uc001sua.4. human. [Q8TC05-2 ]
    uc010std.2. human. [Q8TC05-3 ]

    Organism-specific databases

    CTDi 56890.
    GeneCardsi GC12M068688.
    HGNCi HGNC:29917. MDM1.
    HPAi HPA040411.
    HPA041594.
    MIMi 613813. gene.
    neXtProti NX_Q8TC05.
    PharmGKBi PA134879752.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG72701.
    HOGENOMi HOG000113507.
    HOVERGENi HBG108124.
    InParanoidi Q8TC05.
    KOi K17886.
    OMAi HQRLGKV.
    OrthoDBi EOG7P2XVF.
    PhylomeDBi Q8TC05.
    TreeFami TF331015.

    Miscellaneous databases

    GenomeRNAii 56890.
    NextBioi 62299.
    PROi Q8TC05.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8TC05.
    Bgeei Q8TC05.
    CleanExi HS_MDM1.
    Genevestigatori Q8TC05.

    Family and domain databases

    InterProi IPR029136. MDM1.
    [Graphical view ]
    Pfami PF15501. MDM1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning, mapping and characterization of a novel human MDM1 protein."
      Yang Q.S., Ying K., Wu H., Xia F., Xie Y., Mao Y.M.
      Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    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.
      , 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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
      Tissue: Brain.
    3. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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] (ISOFORMS 1 AND 3), VARIANTS ILE-103; HIS-489 AND LEU-552.
      Tissue: Prostate and Testis.
    5. Yu W., Sarginson J., Gibbs R.A.
      Submitted (JUN-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 462-714 (ISOFORM 1), VARIANT HIS-489.
      Tissue: Brain.

    Entry informationi

    Entry nameiMDM1_HUMAN
    AccessioniPrimary (citable) accession number: Q8TC05
    Secondary accession number(s): B4DM65
    , E7EPQ3, O43406, Q8WTV9, Q9NR04
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 21, 2007
    Last sequence update: August 21, 2007
    Last modified: October 1, 2014
    This is version 88 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3