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Protein

Nucleolar protein 3

Gene

NOL3

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

Functioni

Isoform 1 may be involved in RNA splicing.
Isoform 2 may inhibit apoptosis.

GO - Molecular functioni

  1. identical protein binding Source: IntAct
  2. RNA binding Source: ProtInc

GO - Biological processi

  1. apoptotic process Source: UniProtKB-KW
  2. mRNA processing Source: UniProtKB-KW
  3. negative regulation of apoptotic process Source: ProtInc
  4. regulation of gene expression Source: Ensembl
  5. response to hypoxia Source: Ensembl
  6. response to injury involved in regulation of muscle adaptation Source: Ensembl
  7. RNA splicing Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Apoptosis, mRNA processing, mRNA splicing

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:NOL3
Synonyms:ARC, NOP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:7869. NOL3.

Subcellular locationi

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

GO - Cellular componenti

  1. cytosol Source: ProtInc
  2. mitochondrion Source: UniProtKB
  3. nucleolus Source: ProtInc
  4. sarcoplasm Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Myoclonus, familial cortical1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn 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.

See also OMIM:614937
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti21 – 211E → Q in FCM; the mutation may alter post-translational modification of the protein. 1 Publication
VAR_069731

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi614937. phenotype.
Orphaneti319189. Familial cortical myoclonus.
PharmGKBiPA31673.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 219219Nucleolar protein 3PRO_0000144099Add
BLAST

Proteomic databases

MaxQBiO60936.
PaxDbiO60936.
PeptideAtlasiO60936.
PRIDEiO60936.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiO60936.
CleanExiHS_ARC.
HS_NOL3.
ExpressionAtlasiO60936. baseline and differential.
GenevestigatoriO60936.

Organism-specific databases

HPAiCAB009208.

Interactioni

Subunit structurei

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.By similarity2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself2EBI-740992,EBI-740992
CASP8Q147903EBI-740992,EBI-78060

Protein-protein interaction databases

BioGridi114477. 36 interactions.
DIPiDIP-29940N.
IntActiO60936. 5 interactions.
MINTiMINT-1462750.
STRINGi9606.ENSP00000268605.

Structurei

3D structure databases

ProteinModelPortaliO60936.
SMRiO60936. Positions 10-86.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini4 – 9592CARDPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 CARD domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG44360.
GeneTreeiENSGT00510000049353.
HOGENOMiHOG000113820.
InParanoidiO60936.
OMAiAPTMGNA.
PhylomeDBiO60936.
TreeFamiTF336957.

Family and domain databases

Gene3Di1.10.533.10. 1 hit.
InterProiIPR001315. CARD.
IPR011029. DEATH-like_dom.
[Graphical view]
PfamiPF00619. CARD. 1 hit.
[Graphical view]
SMARTiSM00114. CARD. 1 hit.
[Graphical view]
SUPFAMiSSF47986. SSF47986. 1 hit.
PROSITEiPS50209. CARD. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O60936-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MGNAQERPSE TIDRERKRLV ETLQADSGLL LDALLARGVL TGPEYEALDA
60 70 80 90 100
LPDAERRVRR LLLLVQGKGE AACQELLRCA QRTAGAPDPA WDWQHATGTA
110 120 130 140 150
AMTLHAQATG RRRHPARGPH APGCPELQTL TRPGALRAPR RCNPGPRRSQ
160 170 180 190 200
SQSWKLRPLK RLNRSRSQSQ SWNPRLKQNQ SRNWSQNRTQ SPSPTSRKGT
210
SPKIPEGQSS DRRCPAHAG
Length:219
Mass (Da):24,327
Last modified:August 1, 1998 - v1
Checksum:iB1CCCB199D4FEE09
GO
Isoform 2 (identifier: O60936-2) [UniParc]FASTAAdd to Basket

Also known as: Myp

The sequence of this isoform differs from the canonical sequence as follows:
     96-219: ATGTAAMTLH...SDRRCPAHAG → VGPGYRDRSY...FEERDESEDS

Show »
Length:208
Mass (Da):22,629
Checksum:i239EF1A143EF6168
GO
Isoform 3 (identifier: O60936-3) [UniParc]FASTAAdd to Basket

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.

Show »
Length:270
Mass (Da):29,355
Checksum:iACA253B5CD21348B
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti21 – 211E → Q in FCM; the mutation may alter post-translational modification of the protein. 1 Publication
VAR_069731

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MPVLGKAGEERRATADAWGQ KEEPEEETGQSVWRGRRTPS SPCWPPGPVLAEPSGGWDRA PTM in isoform 3. 1 PublicationVSP_054607
Alternative sequencei96 – 219124ATGTA…PAHAG → VGPGYRDRSYDPPCPGHWTP EAPGSGTTCPGLPRASDPDE AGGPEGSEAVQSGTPEEPEP ELEAEASKEAEPEPEPEPEL EPEAEAEPEPELEPEPDPEP EPDFEERDESEDS in isoform 2. 3 PublicationsVSP_000789Add
BLAST
Alternative sequencei96 – 208113ATGTA…IPEGQ → VGPGYRDRSYDPPCPGHWTP EAPGSGTTCPGLPRASDPDE AGGPEGSEAVQSGTPEEPEP ELEAEASKEAEPEPEPEPEL EPEAEAEPEPELEPEPDPEP EPDFEERDESEDS in isoform 3. 1 PublicationVSP_054608Add
BLAST
Alternative sequencei209 – 21911Missing in isoform 3. 1 PublicationVSP_054609Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS42176.1. [O60936-2]
CCDS58473.1. [O60936-1]
CCDS61960.1. [O60936-3]
RefSeqiNP_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]
UniGeneiHs.513667.

Genome annotation databases

EnsembliENST00000268605; ENSP00000268605; ENSG00000140939. [O60936-2]
ENST00000564053; ENSP00000457243; ENSG00000140939. [O60936-3]
ENST00000568146; ENSP00000454598; ENSG00000140939. [O60936-1]
GeneIDi8996.
KEGGihsa:8996.
UCSCiuc010vjd.3. human. [O60936-1]
uc031qwm.1. human.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS42176.1. [O60936-2]
CCDS58473.1. [O60936-1]
CCDS61960.1. [O60936-3]
RefSeqiNP_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]
UniGeneiHs.513667.

3D structure databases

ProteinModelPortaliO60936.
SMRiO60936. Positions 10-86.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114477. 36 interactions.
DIPiDIP-29940N.
IntActiO60936. 5 interactions.
MINTiMINT-1462750.
STRINGi9606.ENSP00000268605.

Proteomic databases

MaxQBiO60936.
PaxDbiO60936.
PeptideAtlasiO60936.
PRIDEiO60936.

Protocols and materials databases

DNASUi8996.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000268605; ENSP00000268605; ENSG00000140939. [O60936-2]
ENST00000564053; ENSP00000457243; ENSG00000140939. [O60936-3]
ENST00000568146; ENSP00000454598; ENSG00000140939. [O60936-1]
GeneIDi8996.
KEGGihsa:8996.
UCSCiuc010vjd.3. human. [O60936-1]
uc031qwm.1. human.

Organism-specific databases

CTDi8996.
GeneCardsiGC16P067207.
HGNCiHGNC:7869. NOL3.
HPAiCAB009208.
MIMi605235. gene.
614937. phenotype.
neXtProtiNX_O60936.
Orphaneti319189. Familial cortical myoclonus.
PharmGKBiPA31673.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG44360.
GeneTreeiENSGT00510000049353.
HOGENOMiHOG000113820.
InParanoidiO60936.
OMAiAPTMGNA.
PhylomeDBiO60936.
TreeFamiTF336957.

Miscellaneous databases

ChiTaRSiNOL3. human.
GeneWikiiNOL3.
GenomeRNAii8996.
NextBioi33735.
PROiO60936.
SOURCEiSearch...

Gene expression databases

BgeeiO60936.
CleanExiHS_ARC.
HS_NOL3.
ExpressionAtlasiO60936. baseline and differential.
GenevestigatoriO60936.

Family and domain databases

Gene3Di1.10.533.10. 1 hit.
InterProiIPR001315. CARD.
IPR011029. DEATH-like_dom.
[Graphical view]
PfamiPF00619. CARD. 1 hit.
[Graphical view]
SMARTiSM00114. CARD. 1 hit.
[Graphical view]
SUPFAMiSSF47986. SSF47986. 1 hit.
PROSITEiPS50209. CARD. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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. Cited for: VARIANT FCM GLN-21, CHARACTERIZATION OF VARIANT FCM GLN-21.

Entry informationi

Entry nameiNOL3_HUMAN
AccessioniPrimary (citable) accession number: O60936
Secondary accession number(s): B4DFL0, O60937
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: August 1, 1998
Last modified: January 7, 2015
This is version 123 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.