Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

O60936

- NOL3_HUMAN

UniProt

O60936 - NOL3_HUMAN

Protein

Nucleolar protein 3

Gene

NOL3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 121 (01 Oct 2014)
      Sequence version 1 (01 Aug 1998)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Isoform 1 may be involved in RNA splicing.
    Isoform 2 may inhibit apoptosis.

    GO - Molecular functioni

    1. identical protein binding Source: IntAct
    2. protein binding Source: UniProtKB
    3. RNA binding Source: ProtInc

    GO - Biological processi

    1. apoptotic process Source: UniProtKB-KW
    2. mRNA processing Source: UniProtKB-KW
    3. negative regulation of apoptotic process Source: ProtInc
    4. RNA splicing Source: ProtInc

    Keywords - Biological processi

    Apoptosis, mRNA processing, mRNA splicing

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Nucleolar protein 3
    Alternative name(s):
    Apoptosis repressor with CARD
    Muscle-enriched cytoplasmic protein
    Short name:
    Myp
    Nucleolar protein of 30 kDa
    Short name:
    Nop30
    Gene namesi
    Name:NOL3
    Synonyms:ARC, NOP
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:7869. NOL3.

    Subcellular locationi

    Isoform 1 : Nucleusnucleolus
    Note: The SR-rich C-terminus mediates nuclear localization.

    GO - Cellular componenti

    1. cytosol Source: ProtInc
    2. mitochondrion Source: UniProtKB
    3. nucleolus Source: ProtInc
    4. sarcoplasm Source: Ensembl

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Myoclonus, familial cortical (FCM) [MIM:614937]: An autosomal dominant neurologic condition characterized by adult onset of cortical myoclonus manifest as involuntary jerks or movements affecting the face and limbs. Affected individuals can also experience falls without seizure activity or loss of consciousness.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti21 – 211E → Q in FCM; the mutation may alter post-translational modification of the protein. 1 Publication
    VAR_069731

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi614937. phenotype.
    Orphaneti319189. Familial cortical myoclonus.
    PharmGKBiPA31673.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 219219Nucleolar protein 3PRO_0000144099Add
    BLAST

    Proteomic databases

    MaxQBiO60936.
    PaxDbiO60936.
    PeptideAtlasiO60936.
    PRIDEiO60936.

    Expressioni

    Tissue specificityi

    Highly expressed in heart and skeletal muscle. Detected at low levels in placenta, liver, kidney and pancreas.

    Gene expression databases

    ArrayExpressiO60936.
    BgeeiO60936.
    CleanExiHS_ARC.
    HS_NOL3.
    GenevestigatoriO60936.

    Organism-specific databases

    HPAiCAB009208.

    Interactioni

    Subunit structurei

    Interacts with TFPT By similarity. Isoform 1 oligomerizes and binds to SFRS9/SRp30C and also interacts with NPM1. Isoform 2 binds CASP2/caspase-2 and CASP8/caspase-8 and inhibits caspase-8 activity.By similarity2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    itself2EBI-740992,EBI-740992
    CASP8Q147903EBI-740992,EBI-78060

    Protein-protein interaction databases

    BioGridi114477. 36 interactions.
    DIPiDIP-29940N.
    IntActiO60936. 5 interactions.
    MINTiMINT-1462750.
    STRINGi9606.ENSP00000268605.

    Structurei

    3D structure databases

    ProteinModelPortaliO60936.
    SMRiO60936. Positions 10-86.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini4 – 9592CARDPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 CARD domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG44360.
    HOGENOMiHOG000113820.
    PhylomeDBiO60936.
    TreeFamiTF336957.

    Family and domain databases

    Gene3Di1.10.533.10. 1 hit.
    InterProiIPR001315. CARD.
    IPR011029. DEATH-like_dom.
    [Graphical view]
    PfamiPF00619. CARD. 1 hit.
    [Graphical view]
    SMARTiSM00114. CARD. 1 hit.
    [Graphical view]
    SUPFAMiSSF47986. SSF47986. 1 hit.
    PROSITEiPS50209. CARD. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O60936-1) [UniParc]FASTAAdd to Basket

    Also known as: Nop30

    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

    MGNAQERPSE TIDRERKRLV ETLQADSGLL LDALLARGVL TGPEYEALDA    50
    LPDAERRVRR LLLLVQGKGE AACQELLRCA QRTAGAPDPA WDWQHATGTA 100
    AMTLHAQATG RRRHPARGPH APGCPELQTL TRPGALRAPR RCNPGPRRSQ 150
    SQSWKLRPLK RLNRSRSQSQ SWNPRLKQNQ SRNWSQNRTQ SPSPTSRKGT 200
    SPKIPEGQSS DRRCPAHAG 219
    Length:219
    Mass (Da):24,327
    Last modified:August 1, 1998 - v1
    Checksum:iB1CCCB199D4FEE09
    GO
    Isoform 2 (identifier: O60936-2) [UniParc]FASTAAdd to Basket

    Also known as: Myp

    The sequence of this isoform differs from the canonical sequence as follows:
         96-219: ATGTAAMTLH...SDRRCPAHAG → VGPGYRDRSY...FEERDESEDS

    Show »
    Length:208
    Mass (Da):22,629
    Checksum:i239EF1A143EF6168
    GO
    Isoform 3 (identifier: O60936-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MPVLGKAGEERRATADAWGQKEEPEEETGQSVWRGRRTPSSPCWPPGPVLAEPSGGWDRAPTM
         96-208: ATGTAAMTLH...GTSPKIPEGQ → VGPGYRDRSY...FEERDESEDS
         209-219: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:270
    Mass (Da):29,355
    Checksum:iACA253B5CD21348B
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti21 – 211E → Q in FCM; the mutation may alter post-translational modification of the protein. 1 Publication
    VAR_069731

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MPVLGKAGEERRATADAWGQ KEEPEEETGQSVWRGRRTPS SPCWPPGPVLAEPSGGWDRA PTM in isoform 3. 1 PublicationVSP_054607
    Alternative sequencei96 – 219124ATGTA…PAHAG → VGPGYRDRSYDPPCPGHWTP EAPGSGTTCPGLPRASDPDE AGGPEGSEAVQSGTPEEPEP ELEAEASKEAEPEPEPEPEL EPEAEAEPEPELEPEPDPEP EPDFEERDESEDS in isoform 2. 3 PublicationsVSP_000789Add
    BLAST
    Alternative sequencei96 – 208113ATGTA…IPEGQ → VGPGYRDRSYDPPCPGHWTP EAPGSGTTCPGLPRASDPDE AGGPEGSEAVQSGTPEEPEP ELEAEASKEAEPEPEPEPEL EPEAEAEPEPELEPEPDPEP EPDFEERDESEDS in isoform 3. 1 PublicationVSP_054608Add
    BLAST
    Alternative sequencei209 – 21911Missing in isoform 3. 1 PublicationVSP_054609Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF043244 mRNA. Translation: AAC34993.1.
    AF064598 Genomic DNA. Translation: AAC18590.1.
    AF064598 Genomic DNA. Translation: AAC18591.1.
    AF064599 mRNA. Translation: AAC18593.1.
    AF064600 mRNA. Translation: AAC18594.1.
    AK294145 mRNA. Translation: BAG57471.1.
    AC074143 Genomic DNA. No translation available.
    CH471092 Genomic DNA. Translation: EAW83087.1.
    BC012798 mRNA. Translation: AAH12798.1.
    CCDSiCCDS42176.1. [O60936-2]
    CCDS58473.1. [O60936-1]
    CCDS61960.1. [O60936-3]
    RefSeqiNP_001171986.1. NM_001185057.2. [O60936-1]
    NP_001263236.1. NM_001276307.1. [O60936-2]
    NP_001263238.1. NM_001276309.1. [O60936-2]
    NP_001263240.1. NM_001276311.1.
    NP_001263241.1. NM_001276312.1. [O60936-2]
    NP_001263248.1. NM_001276319.1. [O60936-3]
    NP_003937.1. NM_003946.6. [O60936-2]
    XP_006721385.1. XM_006721322.1. [O60936-3]
    UniGeneiHs.513667.

    Genome annotation databases

    EnsembliENST00000268605; ENSP00000268605; ENSG00000140939. [O60936-2]
    ENST00000564053; ENSP00000457243; ENSG00000140939. [O60936-3]
    ENST00000568146; ENSP00000454598; ENSG00000140939. [O60936-1]
    GeneIDi8996.
    KEGGihsa:8996.
    UCSCiuc010vjd.3. human. [O60936-1]
    uc031qwm.1. human.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF043244 mRNA. Translation: AAC34993.1 .
    AF064598 Genomic DNA. Translation: AAC18590.1 .
    AF064598 Genomic DNA. Translation: AAC18591.1 .
    AF064599 mRNA. Translation: AAC18593.1 .
    AF064600 mRNA. Translation: AAC18594.1 .
    AK294145 mRNA. Translation: BAG57471.1 .
    AC074143 Genomic DNA. No translation available.
    CH471092 Genomic DNA. Translation: EAW83087.1 .
    BC012798 mRNA. Translation: AAH12798.1 .
    CCDSi CCDS42176.1. [O60936-2 ]
    CCDS58473.1. [O60936-1 ]
    CCDS61960.1. [O60936-3 ]
    RefSeqi NP_001171986.1. NM_001185057.2. [O60936-1 ]
    NP_001263236.1. NM_001276307.1. [O60936-2 ]
    NP_001263238.1. NM_001276309.1. [O60936-2 ]
    NP_001263240.1. NM_001276311.1.
    NP_001263241.1. NM_001276312.1. [O60936-2 ]
    NP_001263248.1. NM_001276319.1. [O60936-3 ]
    NP_003937.1. NM_003946.6. [O60936-2 ]
    XP_006721385.1. XM_006721322.1. [O60936-3 ]
    UniGenei Hs.513667.

    3D structure databases

    ProteinModelPortali O60936.
    SMRi O60936. Positions 10-86.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114477. 36 interactions.
    DIPi DIP-29940N.
    IntActi O60936. 5 interactions.
    MINTi MINT-1462750.
    STRINGi 9606.ENSP00000268605.

    Proteomic databases

    MaxQBi O60936.
    PaxDbi O60936.
    PeptideAtlasi O60936.
    PRIDEi O60936.

    Protocols and materials databases

    DNASUi 8996.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000268605 ; ENSP00000268605 ; ENSG00000140939 . [O60936-2 ]
    ENST00000564053 ; ENSP00000457243 ; ENSG00000140939 . [O60936-3 ]
    ENST00000568146 ; ENSP00000454598 ; ENSG00000140939 . [O60936-1 ]
    GeneIDi 8996.
    KEGGi hsa:8996.
    UCSCi uc010vjd.3. human. [O60936-1 ]
    uc031qwm.1. human.

    Organism-specific databases

    CTDi 8996.
    GeneCardsi GC16P067207.
    HGNCi HGNC:7869. NOL3.
    HPAi CAB009208.
    MIMi 605235. gene.
    614937. phenotype.
    neXtProti NX_O60936.
    Orphaneti 319189. Familial cortical myoclonus.
    PharmGKBi PA31673.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG44360.
    HOGENOMi HOG000113820.
    PhylomeDBi O60936.
    TreeFami TF336957.

    Miscellaneous databases

    ChiTaRSi NOL3. human.
    GeneWikii NOL3.
    GenomeRNAii 8996.
    NextBioi 33735.
    PROi O60936.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O60936.
    Bgeei O60936.
    CleanExi HS_ARC.
    HS_NOL3.
    Genevestigatori O60936.

    Family and domain databases

    Gene3Di 1.10.533.10. 1 hit.
    InterProi IPR001315. CARD.
    IPR011029. DEATH-like_dom.
    [Graphical view ]
    Pfami PF00619. CARD. 1 hit.
    [Graphical view ]
    SMARTi SM00114. CARD. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47986. SSF47986. 1 hit.
    PROSITEi PS50209. CARD. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "ARC, an inhibitor of apoptosis expressed in skeletal muscle and heart that interacts selectively with caspases."
      Koseki T., Inohara N., Chen S., Nunez G.
      Proc. Natl. Acad. Sci. U.S.A. 95:5156-5160(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), INTERACTION WITH CASP2; CASP8; NPM1 AND SFRS9.
    2. "Alternative splicing determines the intracellular localization of the novel nuclear protein Nop30 and its interaction with the splicing factor SRp30c."
      Stoss O., Schwaiger F.-W., Cooper T.A., Stamm S.
      J. Biol. Chem. 274:10951-10962(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), SUBCELLULAR LOCATION, SUBUNIT, INTERACTION WITH SFRS9.
      Tissue: Cervix carcinoma.
    3. "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 3).
      Tissue: Brain cortex.
    4. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
      , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
      Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Kidney.
    7. Cited for: VARIANT FCM GLN-21, CHARACTERIZATION OF VARIANT FCM GLN-21.

    Entry informationi

    Entry nameiNOL3_HUMAN
    AccessioniPrimary (citable) accession number: O60936
    Secondary accession number(s): B4DFL0, O60937
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 2, 2002
    Last sequence update: August 1, 1998
    Last modified: October 1, 2014
    This is version 121 of the entry and version 1 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 16
      Human chromosome 16: 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