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O60936 (NOL3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 119. 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·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:NOL3
Synonyms:ARC, NOP
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length219 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Isoform 1 may be involved in RNA splicing.

Isoform 2 may inhibit apoptosis.

Subunit structure

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. Ref.1 Ref.2

Subcellular location

Isoform 1: Nucleusnucleolus. Note: The SR-rich C-terminus mediates nuclear localization. Ref.2

Isoform 2: Cytoplasm Ref.2.

Isoform 3: Cytoplasm Probable Ref.2.

Tissue specificity

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

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

Contains 1 CARD domain.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

itself2EBI-740992,EBI-740992
CASP8Q147903EBI-740992,EBI-78060

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O60936-1)

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.
Isoform 2 (identifier: O60936-2)

Also known as: Myp;

The sequence of this isoform differs from the canonical sequence as follows:
     96-219: ATGTAAMTLH...SDRRCPAHAG → VGPGYRDRSY...FEERDESEDS
Isoform 3 (identifier: O60936-3)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 219219Nucleolar protein 3
PRO_0000144099

Regions

Domain4 – 9592CARD

Natural variations

Alternative sequence11M → MPVLGKAGEERRATADAWGQ KEEPEEETGQSVWRGRRTPS SPCWPPGPVLAEPSGGWDRA PTM in isoform 3.
VSP_054607
Alternative sequence96 – 219124ATGTA…PAHAG → VGPGYRDRSYDPPCPGHWTP EAPGSGTTCPGLPRASDPDE AGGPEGSEAVQSGTPEEPEP ELEAEASKEAEPEPEPEPEL EPEAEAEPEPELEPEPDPEP EPDFEERDESEDS in isoform 2.
VSP_000789
Alternative sequence96 – 208113ATGTA…IPEGQ → VGPGYRDRSYDPPCPGHWTP EAPGSGTTCPGLPRASDPDE AGGPEGSEAVQSGTPEEPEP ELEAEASKEAEPEPEPEPEL EPEAEAEPEPELEPEPDPEP EPDFEERDESEDS in isoform 3.
VSP_054608
Alternative sequence209 – 21911Missing in isoform 3.
VSP_054609
Natural variant211E → Q in FCM; the mutation may alter post-translational modification of the protein. Ref.7
VAR_069731

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Nop30) [UniParc].

Last modified August 1, 1998. Version 1.
Checksum: B1CCCB199D4FEE09

FASTA21924,327
        10         20         30         40         50         60 
MGNAQERPSE TIDRERKRLV ETLQADSGLL LDALLARGVL TGPEYEALDA LPDAERRVRR 

        70         80         90        100        110        120 
LLLLVQGKGE AACQELLRCA QRTAGAPDPA WDWQHATGTA AMTLHAQATG RRRHPARGPH 

       130        140        150        160        170        180 
APGCPELQTL TRPGALRAPR RCNPGPRRSQ SQSWKLRPLK RLNRSRSQSQ SWNPRLKQNQ 

       190        200        210 
SRNWSQNRTQ SPSPTSRKGT SPKIPEGQSS DRRCPAHAG 

« Hide

Isoform 2 (Myp) [UniParc].

Checksum: 239EF1A143EF6168
Show »

FASTA20822,629
Isoform 3 [UniParc].

Checksum: ACA253B5CD21348B
Show »

FASTA27029,355

References

« Hide 'large scale' references
[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. 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] (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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"Familial cortical myoclonus with a mutation in NOL3."
Russell J.F., Steckley J.L., Coppola G., Hahn A.F., Howard M.A., Kornberg Z., Huang A., Mirsattari S.M., Merriman B., Klein E., Choi M., Lee H.Y., Kirk A., Nelson-Williams C., Gibson G., Baraban S.C., Lifton R.P., Geschwind D.H., Fu Y.H., Ptacek L.J.
Ann. Neurol. 72:175-183(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT FCM GLN-21, CHARACTERIZATION OF VARIANT FCM GLN-21.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS42176.1. [O60936-2]
CCDS58473.1. [O60936-1]
RefSeqNP_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]
UniGeneHs.513667.

3D structure databases

ProteinModelPortalO60936.
SMRO60936. Positions 10-86.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114477. 36 interactions.
DIPDIP-29940N.
IntActO60936. 5 interactions.
MINTMINT-1462750.
STRING9606.ENSP00000268605.

Proteomic databases

MaxQBO60936.
PaxDbO60936.
PeptideAtlasO60936.
PRIDEO60936.

Protocols and materials databases

DNASU8996.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000268605; ENSP00000268605; ENSG00000140939. [O60936-2]
ENST00000432069; ENSP00000399831; ENSG00000140939. [O60936-2]
ENST00000564053; ENSP00000457243; ENSG00000140939.
ENST00000568146; ENSP00000454598; ENSG00000140939. [O60936-1]
GeneID8996.
KEGGhsa:8996.
UCSCuc010vjd.3. human. [O60936-1]

Organism-specific databases

CTD8996.
GeneCardsGC16P067207.
HGNCHGNC:7869. NOL3.
HPACAB009208.
MIM605235. gene.
614937. phenotype.
neXtProtNX_O60936.
Orphanet319189. Familial cortical myoclonus.
PharmGKBPA31673.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG44360.
HOGENOMHOG000113820.
PhylomeDBO60936.
TreeFamTF336957.

Gene expression databases

ArrayExpressO60936.
BgeeO60936.
CleanExHS_ARC.
HS_NOL3.
GenevestigatorO60936.

Family and domain databases

Gene3D1.10.533.10. 1 hit.
InterProIPR001315. CARD.
IPR011029. DEATH-like_dom.
[Graphical view]
PfamPF00619. CARD. 1 hit.
[Graphical view]
SMARTSM00114. CARD. 1 hit.
[Graphical view]
SUPFAMSSF47986. SSF47986. 1 hit.
PROSITEPS50209. CARD. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSNOL3. human.
GeneWikiNOL3.
GenomeRNAi8996.
NextBio33735.
PROO60936.
SOURCESearch...

Entry information

Entry nameNOL3_HUMAN
AccessionPrimary (citable) accession number: O60936
Secondary accession number(s): B4DFL0, O60937
Entry history
Integrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: August 1, 1998
Last modified: July 9, 2014
This is version 119 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 16

Human chromosome 16: entries, gene names and cross-references to MIM