Q99608 (NECD_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Necdin

Gene names

Name:

NDN

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	321 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Growth regulation Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Ligand	DNA-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	axonal fasciculation Inferred from electronic annotation. Source: Compara central nervous system development Inferred from electronic annotation. Source: Compara genetic imprinting Inferred from electronic annotation. Source: Compara glial cell migration Inferred from electronic annotation. Source: Compara multicellular organismal homeostasis Inferred from electronic annotation. Source: Compara negative regulation of cell proliferation Traceable author statement Ref.2. Source: ProtInc nerve growth factor receptor signaling pathway Inferred from electronic annotation. Source: Compara nervous system development Traceable author statement Ref.2. Source: ProtInc neuron migration Inferred from electronic annotation. Source: Compara post-embryonic development Inferred from electronic annotation. Source: Compara regulation of growth Inferred from electronic annotation. Source: UniProtKB-KW regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW respiratory system process Inferred from electronic annotation. Source: Compara sensory perception of pain Inferred from electronic annotation. Source: Compara transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	cell projection Inferred from electronic annotation. Source: Compara centrosome Inferred from electronic annotation. Source: Compara cytosol Inferred from electronic annotation. Source: Compara nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell perikaryon Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 321	321	Necdin		PRO_0000156740
Regions
	Domain	98 – 297	200	MAGE
Natural variations
	Natural variant	318	1	V → A. Ref.5		VAR_065889

Sequences

	Sequence		Length	Mass (Da)
	Q99608 [UniParc]. Last modified May 1, 1997. Version 1. Checksum: 5068FE121308BFAF	FASTA	321	36,086
	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

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00001102.
RefSeq	NP_002478.1. NM_002487.2.
UniGene	Hs.50130.
3D structure databases
ProteinModelPortal	Q99608.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q99608. 10 interactions.
MINT	MINT-1382170.
STRING	9606.ENSP00000332643.
PTM databases
PhosphoSite	Q99608.
Polymorphism databases
DMDM	17380142.
Proteomic databases
PaxDb	Q99608.
PRIDE	Q99608.
Protocols and materials databases
DNASU	4692.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000331837; ENSP00000332643; ENSG00000182636.
GeneID	4692.
KEGG	hsa:4692.
UCSC	uc001ywk.3. human.
Organism-specific databases
CTD	4692.
GeneCards	GC15M023931.
HGNC	HGNC:7675. NDN.
MIM	176270. phenotype. 602117. gene.
neXtProt	NX_Q99608.
Orphanet	739. Prader-Willi syndrome.
PharmGKB	PA31479.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG316283.
HOGENOM	HOG000231161.
HOVERGEN	HBG098101.
InParanoid	Q99608.
OMA	EFSLVKA.
OrthoDB	EOG4GQQ5P.
PhylomeDB	Q99608.
Enzyme and pathway databases
Pathway_Interaction_DB	p75ntrpathway. p75(NTR)-mediated signaling.
Gene expression databases
Bgee	Q99608.
CleanEx	HS_NDN.
Genevestigator	Q99608.
GermOnline	ENSG00000182636. Homo sapiens.
Family and domain databases
InterPro	IPR002190. MAGE. [Graphical view]
PANTHER	PTHR11736. PTHR11736. 1 hit.
Pfam	PF01454. MAGE. 1 hit. [Graphical view]
PROSITE	PS50838. MAGE. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	4692.
NextBio	18094.
SOURCE	Search...

Entry information

Entry name

NECD_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 106 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.