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Q99608 (NECD_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 117. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Necdin
Gene names
Name:NDN
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length321 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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.

Subunit structure

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.

Subcellular location

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

Tissue specificity

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.

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.

Sequence similarities

Contains 1 MAGE domain.

Ontologies

Keywords
   Biological processGrowth regulation
Transcription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   LigandDNA-binding
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processaxon extension

Inferred from electronic annotation. Source: Ensembl

axonal fasciculation

Inferred from electronic annotation. Source: Ensembl

central nervous system development

Inferred from electronic annotation. Source: Ensembl

genetic imprinting

Inferred from electronic annotation. Source: Ensembl

glial cell migration

Inferred from electronic annotation. Source: Ensembl

multicellular organismal homeostasis

Inferred from electronic annotation. Source: Ensembl

negative regulation of cell proliferation

Traceable author statement Ref.2. Source: ProtInc

nervous system development

Traceable author statement Ref.2. Source: ProtInc

neuron migration

Inferred from electronic annotation. Source: Ensembl

neurotrophin TRK receptor signaling pathway

Inferred from electronic annotation. Source: Ensembl

post-embryonic development

Inferred from electronic annotation. Source: Ensembl

regulation of growth

Inferred from electronic annotation. Source: UniProtKB-KW

regulation of transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

respiratory system process

Inferred from electronic annotation. Source: Ensembl

sensory perception of pain

Inferred from electronic annotation. Source: Ensembl

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentcell projection

Inferred from electronic annotation. Source: Ensembl

centrosome

Inferred from electronic annotation. Source: Ensembl

cytosol

Inferred from electronic annotation. Source: Ensembl

nucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

perikaryon

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 321321Necdin
PRO_0000156740

Regions

Domain98 – 297200MAGE

Natural variations

Natural variant3181V → A. Ref.5
Corresponds to variant rs114077338 [ dbSNP | Ensembl ].
VAR_065889

Sequences

Sequence LengthMass (Da)Tools
Q99608 [UniParc].

Last modified May 1, 1997. Version 1.
Checksum: 5068FE121308BFAF

FASTA32136,086
        10         20         30         40         50         60 
MSEQSKDLSD PNFAAEAPNS EVHSSPGVSE GVPPSATLAE PQSPPLGPTA APQAAPPPQA 

        70         80         90        100        110        120 
PNDEGDPKAL QQAAEEGRAH QAPSAAQPGP APPAPAQLVQ KAHELMWYVL VKDQKKMIIW 

       130        140        150        160        170        180 
FPDMVKDVIG SYKKWCRSIL RRTSLILARV FGLHLRLTSL HTMEFALVKA LEPEELDRVA 

       190        200        210        220        230        240 
LSNRMPMTGL LLMILSLIYV KGRGARESAV WNVLRILGLR PWKKHSTFGD VRKLITEEFV 

       250        260        270        280        290        300 
QMNYLKYQRV PYVEPPEYEF FWGSRASREI TKMQIMEFLA RVFKKDPQAW PSRYREALEE 

       310        320 
ARALREANPT AHYPRSSVSE D 

« Hide

References

« Hide 'large scale' references
[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. 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] [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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U35139 mRNA. Translation: AAB39469.1.
AB007828 Genomic DNA. Translation: BAA22660.1.
AK312779 mRNA. Translation: BAG35642.1.
BC008750 mRNA. Translation: AAH08750.1.
CCDSCCDS10014.1.
RefSeqNP_002478.1. NM_002487.2.
UniGeneHs.50130.

3D structure databases

ProteinModelPortalQ99608.
SMRQ99608. Positions 91-303.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110772. 30 interactions.
IntActQ99608. 10 interactions.
MINTMINT-1382170.
STRING9606.ENSP00000332643.

PTM databases

PhosphoSiteQ99608.

Polymorphism databases

DMDM17380142.

Proteomic databases

MaxQBQ99608.
PaxDbQ99608.
PRIDEQ99608.

Protocols and materials databases

DNASU4692.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000331837; ENSP00000332643; ENSG00000182636.
GeneID4692.
KEGGhsa:4692.
UCSCuc001ywk.3. human.

Organism-specific databases

CTD4692.
GeneCardsGC15M023931.
GeneReviewsNDN.
HGNCHGNC:7675. NDN.
MIM176270. phenotype.
602117. gene.
neXtProtNX_Q99608.
Orphanet177910. 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.
PharmGKBPA31479.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG316283.
HOGENOMHOG000231161.
HOVERGENHBG098101.
InParanoidQ99608.
OMAKRMIIWF.
OrthoDBEOG75F4GM.
PhylomeDBQ99608.
TreeFamTF328505.

Gene expression databases

BgeeQ99608.
CleanExHS_NDN.
GenevestigatorQ99608.

Family and domain databases

InterProIPR002190. MAGE.
[Graphical view]
PANTHERPTHR11736. PTHR11736. 1 hit.
PfamPF01454. MAGE. 1 hit.
[Graphical view]
PROSITEPS50838. MAGE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiNDN_(gene).
GenomeRNAi4692.
NextBio18094.
PROQ99608.
SOURCESearch...

Entry information

Entry nameNECD_HUMAN
AccessionPrimary (citable) accession number: Q99608
Secondary accession number(s): B2R6Z5
Entry history
Integrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: May 1, 1997
Last modified: July 9, 2014
This is version 117 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM