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Q99608

- NECD_HUMAN

UniProt

Q99608 - NECD_HUMAN

Protein

Necdin

Gene

NDN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 118 (01 Oct 2014)
      Sequence version 1 (01 May 1997)
      Previous versions | rss
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    Functioni

    Growth suppressor that facilitates the entry of the cell into cell cycle arrest. Functionally similar to the retinoblastoma protein it binds to and represses the activity of cell-cycle-promoting proteins such as SV40 large T antigen, adenovirus E1A, and the transcription factor E2F. Necdin also interacts with p53 and works in an additive manner to inhibit cell growth. Functions also as transcription factor and binds directly to specific guanosine-rich DNA sequences By similarity.By similarity

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB-KW

    GO - Biological processi

    1. axonal fasciculation Source: Ensembl
    2. axon extension Source: Ensembl
    3. central nervous system development Source: Ensembl
    4. genetic imprinting Source: Ensembl
    5. glial cell migration Source: Ensembl
    6. multicellular organismal homeostasis Source: Ensembl
    7. negative regulation of cell proliferation Source: ProtInc
    8. nervous system development Source: ProtInc
    9. neuron migration Source: Ensembl
    10. neurotrophin TRK receptor signaling pathway Source: Ensembl
    11. post-embryonic development Source: Ensembl
    12. regulation of growth Source: UniProtKB-KW
    13. regulation of transcription, DNA-templated Source: UniProtKB-KW
    14. respiratory system process Source: Ensembl
    15. sensory perception of pain Source: Ensembl
    16. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Biological processi

    Growth regulation, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Necdin
    Gene namesi
    Name:NDN
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:7675. NDN.

    Subcellular locationi

    Perikaryon. Nucleus
    Note: Neural perikarya, translocates to the nucleus of postmitotic neurons and interacts with the nuclear matrix.

    GO - Cellular componenti

    1. cell projection Source: Ensembl
    2. centrosome Source: Ensembl
    3. cytosol Source: Ensembl
    4. nucleus Source: UniProtKB-SubCell
    5. perikaryon Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    MIMi176270. phenotype.
    Orphaneti177910. Prader-Willi syndrome due to imprinting mutation.
    98754. Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15.
    177901. Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1.
    177904. Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2.
    PharmGKBiPA31479.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 321321NecdinPRO_0000156740Add
    BLAST

    Proteomic databases

    MaxQBiQ99608.
    PaxDbiQ99608.
    PRIDEiQ99608.

    PTM databases

    PhosphoSiteiQ99608.

    Expressioni

    Tissue specificityi

    Almost ubiquitous. Detected in fetal brain, lung, liver and kidney; in adult heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine and colon. Not detected in peripheral blood leukocytes. In brain, restricted to post-mitotic neurons.

    Gene expression databases

    BgeeiQ99608.
    CleanExiHS_NDN.
    GenevestigatoriQ99608.

    Interactioni

    Subunit structurei

    Binds to the transactivation domains of E2F1 and p53. Binds also SV40 large T antigen and adenovirus E1A. Interacts with nucleobindin 1 and 2 By similarity.By similarity

    Protein-protein interaction databases

    BioGridi110772. 30 interactions.
    IntActiQ99608. 10 interactions.
    MINTiMINT-1382170.
    STRINGi9606.ENSP00000332643.

    Structurei

    3D structure databases

    ProteinModelPortaliQ99608.
    SMRiQ99608. Positions 91-303.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini98 – 297200MAGEPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 MAGE domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG316283.
    HOGENOMiHOG000231161.
    HOVERGENiHBG098101.
    InParanoidiQ99608.
    OMAiKRMIIWF.
    OrthoDBiEOG75F4GM.
    PhylomeDBiQ99608.
    TreeFamiTF328505.

    Family and domain databases

    InterProiIPR002190. MAGE.
    [Graphical view]
    PANTHERiPTHR11736. PTHR11736. 1 hit.
    PfamiPF01454. MAGE. 1 hit.
    [Graphical view]
    PROSITEiPS50838. MAGE. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q99608-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSEQSKDLSD PNFAAEAPNS EVHSSPGVSE GVPPSATLAE PQSPPLGPTA    50
    APQAAPPPQA PNDEGDPKAL QQAAEEGRAH QAPSAAQPGP APPAPAQLVQ 100
    KAHELMWYVL VKDQKKMIIW FPDMVKDVIG SYKKWCRSIL RRTSLILARV 150
    FGLHLRLTSL HTMEFALVKA LEPEELDRVA LSNRMPMTGL LLMILSLIYV 200
    KGRGARESAV WNVLRILGLR PWKKHSTFGD VRKLITEEFV QMNYLKYQRV 250
    PYVEPPEYEF FWGSRASREI TKMQIMEFLA RVFKKDPQAW PSRYREALEE 300
    ARALREANPT AHYPRSSVSE D 321
    Length:321
    Mass (Da):36,086
    Last modified:May 1, 1997 - v1
    Checksum:i5068FE121308BFAF
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti318 – 3181V → A.1 Publication
    Corresponds to variant rs114077338 [ dbSNP | Ensembl ].
    VAR_065889

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U35139 mRNA. Translation: AAB39469.1.
    AB007828 Genomic DNA. Translation: BAA22660.1.
    AK312779 mRNA. Translation: BAG35642.1.
    BC008750 mRNA. Translation: AAH08750.1.
    CCDSiCCDS10014.1.
    RefSeqiNP_002478.1. NM_002487.2.
    UniGeneiHs.50130.

    Genome annotation databases

    EnsembliENST00000331837; ENSP00000332643; ENSG00000182636.
    GeneIDi4692.
    KEGGihsa:4692.
    UCSCiuc001ywk.3. human.

    Polymorphism databases

    DMDMi17380142.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U35139 mRNA. Translation: AAB39469.1 .
    AB007828 Genomic DNA. Translation: BAA22660.1 .
    AK312779 mRNA. Translation: BAG35642.1 .
    BC008750 mRNA. Translation: AAH08750.1 .
    CCDSi CCDS10014.1.
    RefSeqi NP_002478.1. NM_002487.2.
    UniGenei Hs.50130.

    3D structure databases

    ProteinModelPortali Q99608.
    SMRi Q99608. Positions 91-303.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110772. 30 interactions.
    IntActi Q99608. 10 interactions.
    MINTi MINT-1382170.
    STRINGi 9606.ENSP00000332643.

    PTM databases

    PhosphoSitei Q99608.

    Polymorphism databases

    DMDMi 17380142.

    Proteomic databases

    MaxQBi Q99608.
    PaxDbi Q99608.
    PRIDEi Q99608.

    Protocols and materials databases

    DNASUi 4692.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000331837 ; ENSP00000332643 ; ENSG00000182636 .
    GeneIDi 4692.
    KEGGi hsa:4692.
    UCSCi uc001ywk.3. human.

    Organism-specific databases

    CTDi 4692.
    GeneCardsi GC15M023931.
    GeneReviewsi NDN.
    HGNCi HGNC:7675. NDN.
    MIMi 176270. phenotype.
    602117. gene.
    neXtProti NX_Q99608.
    Orphaneti 177910. Prader-Willi syndrome due to imprinting mutation.
    98754. Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15.
    177901. Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1.
    177904. Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2.
    PharmGKBi PA31479.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG316283.
    HOGENOMi HOG000231161.
    HOVERGENi HBG098101.
    InParanoidi Q99608.
    OMAi KRMIIWF.
    OrthoDBi EOG75F4GM.
    PhylomeDBi Q99608.
    TreeFami TF328505.

    Miscellaneous databases

    GeneWikii NDN_(gene).
    GenomeRNAii 4692.
    NextBioi 18094.
    PROi Q99608.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q99608.
    CleanExi HS_NDN.
    Genevestigatori Q99608.

    Family and domain databases

    InterProi IPR002190. MAGE.
    [Graphical view ]
    PANTHERi PTHR11736. PTHR11736. 1 hit.
    Pfami PF01454. MAGE. 1 hit.
    [Graphical view ]
    PROSITEi PS50838. MAGE. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region."
      Jay P., Rougeulle C., Massacrier A., Moncla A., Mattei M.-G., Malzac P., Roeckel N., Taviaux S., Lefranc J.-L.B., Cau P., Berta P., Lalande M., Muscatelli F.
      Nat. Genet. 17:357-360(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Embryo.
    2. "The human chromosomal gene for necdin, a neuronal growth suppressor, in the Prader-Willi syndrome deletion region."
      Nakada Y., Taniura H., Uetsuki T., Inazawa J., Yoshikawa K.
      Gene 213:65-72(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    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].
      Tissue: Testis.
    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].
      Tissue: Skin.
    5. "Mutational analysis of the necdin gene in patients with congenital isolated hypogonadotropic hypogonadism."
      Beneduzzi D., Iyer A.K., Trarbach E.B., Silveira-Neto A.P., Silveira L.G., Tusset C., Yip K., Mendonca B.B., Mellon P.L., Latronico A.C.
      Eur. J. Endocrinol. 165:145-150(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ALA-318.

    Entry informationi

    Entry nameiNECD_HUMAN
    AccessioniPrimary (citable) accession number: Q99608
    Secondary accession number(s): B2R6Z5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 18, 2001
    Last sequence update: May 1, 1997
    Last modified: October 1, 2014
    This is version 118 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

    Miscellaneous

    Located in the Prader-Willi syndrome (PWS) chromosome region. Prader-Willi syndrome is a contiguous gene syndrome resulting from deletion of the paternal copies of the imprinted SNRPN gene, the necdin gene, and possibly other genes within the chromosome region 15q11-q13.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: 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