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Q99608

- NECD_HUMAN

UniProt

Q99608 - NECD_HUMAN

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Protein

Necdin

Gene

NDN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli

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
Complete GO annotation...

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-KW
Complete GO annotation...

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.
ExpressionAtlasiQ99608. baseline and differential.
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. 56 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 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MSEQSKDLSD PNFAAEAPNS EVHSSPGVSE GVPPSATLAE PQSPPLGPTA
60 70 80 90 100
APQAAPPPQA PNDEGDPKAL QQAAEEGRAH QAPSAAQPGP APPAPAQLVQ
110 120 130 140 150
KAHELMWYVL VKDQKKMIIW FPDMVKDVIG SYKKWCRSIL RRTSLILARV
160 170 180 190 200
FGLHLRLTSL HTMEFALVKA LEPEELDRVA LSNRMPMTGL LLMILSLIYV
210 220 230 240 250
KGRGARESAV WNVLRILGLR PWKKHSTFGD VRKLITEEFV QMNYLKYQRV
260 270 280 290 300
PYVEPPEYEF FWGSRASREI TKMQIMEFLA RVFKKDPQAW PSRYREALEE
310 320
ARALREANPT AHYPRSSVSE D
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. 56 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.
ExpressionAtlasi Q99608. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 119 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