NOL3 nucleolar protein 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NOL3provided by HGNC
Official Full Name: nucleolar protein 3provided by HGNC
Primary source: HGNC:HGNC:7869
See related: Ensembl:ENSG00000140939 MIM:605235; AllianceGenome:HGNC:7869
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ARC; FCM; MYP; NOP; NOP30; MYOCL1
Summary: This gene encodes an anti-apoptotic protein that has been shown to down-regulate the enzyme activities of caspase 2, caspase 8 and tumor protein p53. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
Expression: Ubiquitous expression in skin (RPKM 15.7), prostate (RPKM 15.6) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q22.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (67170538..67175737)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (72964831..72970031)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (67204441..67209640)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expression of apoptosis repressor with caspase recruitment domain (ARC) in familial adenomatous polyposis (FAP) adenomas and its correlation with DNA mismatch repair proteins, p53, Bcl-2, COX-2 and beta-catenin.
Title: Expression of apoptosis repressor with caspase recruitment domain (ARC) in familial adenomatous polyposis (FAP) adenomas and its correlation with DNA mismatch repair proteins, p53, Bcl-2, COX-2 and beta-catenin.
Apoptosis repressor with caspase recruitment domain promotes cell proliferation and phenotypic modulation through 14-3-3epsilon/YAP signaling in vascular smooth muscle cells.
Title: Apoptosis repressor with caspase recruitment domain promotes cell proliferation and phenotypic modulation through 14-3-3ε/YAP signaling in vascular smooth muscle cells.
ARC Is a Critical Protector against Inflammatory Bowel Disease (IBD) and IBD-Associated Colorectal Tumorigenesis.
Title: ARC Is a Critical Protector against Inflammatory Bowel Disease (IBD) and IBD-Associated Colorectal Tumorigenesis.
Results show that in response to DNA damage, p53 total levels increase proportionally to the strength of the damage; however, p53 tetramers are formed at a constant rate under the control of ARC protein.
Title: Constant rate of p53 tetramerization in response to DNA damage controls the p53 response.
role of apoptosis repressor with a CARD domain (ARC) in the therapeutic resistance of renal cell carcinoma
Title: The role of apoptosis repressor with a CARD domain (ARC) in the therapeutic resistance of renal cell carcinoma (RCC): the crucial role of ARC in the inhibition of extrinsic and intrinsic apoptotic signalling.
a novel genetic primary myelofibrosis-like mouse model and identify a tumor suppressor role for NOL3 in the pathogenesis of myeloid malignancies.
Title: A myeloid tumor suppressor role for NOL3.
Increased ARC expression is associated with liver metastasis of colorectal cancer.
Title: Expression of the apoptosis repressor with caspase recruitment domain (ARC) in liver metastasis of colorectal cancer and its correlation with DNA mismatch repair proteins and p53.
RUNX3, miR-185 and ARC regulate the sensitivity of gastric cancer cells to chemotherapy.
Title: MicroRNA-185 regulates chemotherapeutic sensitivity in gastric cancer by targeting apoptosis repressor with caspase recruitment domain.
ARC is regulated via BIRC2/MAP3K14 signalling and its overexpression in AML or MSCs can function as a resistant factor to birinapant-induced leukaemia cell death.
Title: Apoptosis repressor with caspase recruitment domain modulates second mitochondrial-derived activator of caspases mimetic-induced cell death through BIRC2/MAP3K14 signalling in acute myeloid leukaemia.
high expression of ARC plays an important role in the pathogenesis of nasopharyngeal carcinoma and leads to X-radiation and cisplatin resistance in nasopharyngeal carcinoma.
Title: ARC is highly expressed in nasopharyngeal carcinoma and confers X-radiation and cisplatin resistance.

Submit: New GeneRIF Correction See all GeneRIFs (33)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Myoclonus, familial, 1 MedGen: C3539916 OMIM: 614937 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of nucleolar protein 3, apoptosis repressor with CARD domain (NOL3) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

D16S3308 (e-PCR)
- UniSTS:43320

RH47869 (e-PCR)
- UniSTS:40524

RH41857 (e-PCR)
- UniSTS:52321

WI-20202 (e-PCR)
- UniSTS:38870

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	TAS Traceable Author Statement more info	PubMed
enables calcium ion binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables caspase binding	IBA Inferred from Biological aspect of Ancestor more info
enables caspase binding	IPI Inferred from Physical Interaction more info	PubMed
enables cysteine-type endopeptidase inhibitor activity involved in apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
enables cysteine-type endopeptidase inhibitor activity involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
enables death effector domain binding	IBA Inferred from Biological aspect of Ancestor more info
enables death receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA splicing	TAS Traceable Author Statement more info	PubMed
involved_in blood vessel remodeling	IEA Inferred from Electronic Annotation more info
involved_in cardiac muscle cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in inhibition of cysteine-type endopeptidase activity involved in apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in inhibition of cysteine-type endopeptidase activity involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in intrinsic apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in mRNA splice site recognition	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cardiac muscle cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of extrinsic apoptotic signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of extrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of intrinsic apoptotic signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of mitochondrial membrane permeability involved in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of muscle atrophy	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of programmed necrotic cell death	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of release of cytochrome c from mitochondria	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of release of cytochrome c from mitochondria	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of tumor necrosis factor-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in protein complex oligomerization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of non-canonical NF-kappaB signal transduction	IEA Inferred from Electronic Annotation more info
involved_in release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to injury involved in regulation of muscle adaptation	IEA Inferred from Electronic Annotation more info
involved_in response to ischemia	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in sarcoplasmic reticulum	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: nucleolar protein 3

Names: muscle-enriched cytoplasmic protein; nucleolar protein 3 (apoptosis repressor with CARD domain); nucleolar protein of 30 kDa

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029566.1 RefSeqGene

Range

8352..10236

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001185057.3 → NP_001171986.1 nucleolar protein 3 isoform Nop30

See identical proteins and their annotated locations for NP_001171986.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) originates from a different promoter, has a shorter 5' UTR, and uses an alternate splice site in the CDS, compared to variant 1. This transcript and protein were described by Stoss et al. (PMID: 10196175). The resulting protein (Nop30) has the same N-terminus and then is frameshifted resulting in a distinct C-terminus, compared to isoform MYP.

Source sequence(s)

AC074143

Consensus CDS

CCDS58473.1

UniProtKB/TrEMBL

H3BQJ5

Related

ENSP00000454598.1, ENST00000568146.1

Conserved Domains (1) summary

cl14633
Location:5 → 92

DD; Death Domain Superfamily of protein-protein interaction domains
NM_001276307.3 → NP_001263236.1 nucleolar protein 3 isoform MYP

See identical proteins and their annotated locations for NP_001263236.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 4, and 5 encode the same protein (isoform MYP).

Source sequence(s)

AC074143

Consensus CDS

CCDS42176.1

UniProtKB/Swiss-Prot

B4DFL0, O60936, O60937

UniProtKB/TrEMBL

Q5TZN6

Conserved Domains (1) summary

cl14633
Location:5 → 92

DD; Death Domain Superfamily of protein-protein interaction domains
NM_001276309.3 → NP_001263238.1 nucleolar protein 3 isoform MYP

See identical proteins and their annotated locations for NP_001263238.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1, 2, 4, and 5 encode the same protein (isoform MYP).

Source sequence(s)

AC074143

Consensus CDS

CCDS42176.1

UniProtKB/Swiss-Prot

B4DFL0, O60936, O60937

UniProtKB/TrEMBL

Q5TZN6

Related

ENSP00000457720.2, ENST00000564992.2

Conserved Domains (1) summary

cl14633
Location:5 → 92

DD; Death Domain Superfamily of protein-protein interaction domains
NM_001276311.2 → NP_001263240.1 nucleolar protein 3 isoform C

Status: REVIEWED

Description

Transcript Variant: This variant (6) uses an alternate splice site in the CDS compared to variant 1. The resulting protein has the same N-terminus and then is frame-shifted resulting in a distinct C-terminus, compared to isoform MYP.

Source sequence(s)

AC074143

UniProtKB/TrEMBL

H3BQJ5

Related

ENSP00000455808.1, ENST00000566871.5

Conserved Domains (2) summary

cl00281
Location:30 → 115

metallo-dependent_hydrolases; Superfamily of metallo-dependent hydrolases (also called amidohydrolase superfamily) is a large group of proteins that show conservation in their 3-dimensional fold (TIM barrel) and in details of their active site. The vast majority of the members have a ...

cl14633
Location:5 → 58

DD; Death Domain Superfamily of protein-protein interaction domains
NM_001276312.3 → NP_001263241.1 nucleolar protein 3 isoform MYP

See identical proteins and their annotated locations for NP_001263241.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform. Variants 1, 2, 4, and 5 encode the same protein (isoform MYP).

Source sequence(s)

AC074143

Consensus CDS

CCDS42176.1

UniProtKB/Swiss-Prot

B4DFL0, O60936, O60937

UniProtKB/TrEMBL

Q5TZN6

Related

ENSP00000457243.2, ENST00000564053.5

Conserved Domains (1) summary

cl14633
Location:5 → 92

DD; Death Domain Superfamily of protein-protein interaction domains
NM_001394973.1 → NP_001381902.1 nucleolar protein 3 isoform MYP

Status: REVIEWED

Source sequence(s)

AC074143

Consensus CDS

CCDS42176.1

UniProtKB/Swiss-Prot

B4DFL0, O60936, O60937

UniProtKB/TrEMBL

Q5TZN6

Conserved Domains (1) summary

cl14633
Location:5 → 92

DD; Death Domain Superfamily of protein-protein interaction domains
NM_001394974.1 → NP_001381903.1 nucleolar protein 3 isoform C

Status: REVIEWED

Source sequence(s)

AC074143

UniProtKB/TrEMBL

H3BQJ5

Conserved Domains (2) summary

cl00281
Location:30 → 115

metallo-dependent_hydrolases; Superfamily of metallo-dependent hydrolases (also called amidohydrolase superfamily) is a large group of proteins that show conservation in their 3-dimensional fold (TIM barrel) and in details of their active site. The vast majority of the members have a ...

cl14633
Location:5 → 58

DD; Death Domain Superfamily of protein-protein interaction domains
NM_001394975.1 → NP_001381904.1 nucleolar protein 3 isoform C

Status: REVIEWED

Source sequence(s)

AC074143

UniProtKB/TrEMBL

H3BQJ5

Conserved Domains (2) summary

cl00281
Location:30 → 115

metallo-dependent_hydrolases; Superfamily of metallo-dependent hydrolases (also called amidohydrolase superfamily) is a large group of proteins that show conservation in their 3-dimensional fold (TIM barrel) and in details of their active site. The vast majority of the members have a ...

cl14633
Location:5 → 58

DD; Death Domain Superfamily of protein-protein interaction domains
NM_001394976.1 → NP_001381905.1 nucleolar protein 3 isoform C

Status: REVIEWED

Source sequence(s)

AC074143

UniProtKB/TrEMBL

H3BQJ5

Conserved Domains (2) summary

cl00281
Location:30 → 115

metallo-dependent_hydrolases; Superfamily of metallo-dependent hydrolases (also called amidohydrolase superfamily) is a large group of proteins that show conservation in their 3-dimensional fold (TIM barrel) and in details of their active site. The vast majority of the members have a ...

cl14633
Location:5 → 58

DD; Death Domain Superfamily of protein-protein interaction domains
NM_001394977.1 → NP_001381906.1 nucleolar protein 3 isoform Nop30

Status: REVIEWED

Source sequence(s)

AC074143

Consensus CDS

CCDS58473.1

UniProtKB/TrEMBL

H3BQJ5

Conserved Domains (1) summary

cl14633
Location:5 → 92

DD; Death Domain Superfamily of protein-protein interaction domains
NM_001394978.1 → NP_001381907.1 nucleolar protein 3 isoform Nop30

Status: REVIEWED

Source sequence(s)

AC074143

Consensus CDS

CCDS58473.1

UniProtKB/TrEMBL

H3BQJ5

Conserved Domains (1) summary

cl14633
Location:5 → 92

DD; Death Domain Superfamily of protein-protein interaction domains
NM_001394979.1 → NP_001381908.1 nucleolar protein 3 isoform E

Status: REVIEWED

Source sequence(s)

AC074143

Conserved Domains (1) summary

cl14633
Location:5 → 92

DD; Death Domain Superfamily of protein-protein interaction domains
NM_003946.7 → NP_003937.1 nucleolar protein 3 isoform MYP

See identical proteins and their annotated locations for NP_003937.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) originates from a different promoter and has a shorter 5' UTR, compared to variant 1. This transcript and protein were described by Stoss et al. (PMID: 10196175). Variants 1, 2, 4 and 5 encode the same protein (isoform MYP).

Source sequence(s)

AC074143

Consensus CDS

CCDS42176.1

UniProtKB/Swiss-Prot

B4DFL0, O60936, O60937

UniProtKB/TrEMBL

Q5TZN6

Related

ENST00000568503.1

Conserved Domains (1) summary

cl14633
Location:5 → 92

DD; Death Domain Superfamily of protein-protein interaction domains

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

67170538..67175737

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047434851.1 → XP_047290807.1 nucleolar protein 3 isoform X2
XM_047434852.1 → XP_047290808.1 nucleolar protein 3 isoform X3

UniProtKB/Swiss-Prot

B4DFL0, O60936, O60937

UniProtKB/TrEMBL

Q5TZN6
XM_047434850.1 → XP_047290806.1 nucleolar protein 3 isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

72964831..72970031

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054314289.1 → XP_054170264.1 nucleolar protein 3 isoform X2
XM_054314290.1 → XP_054170265.1 nucleolar protein 3 isoform X3

UniProtKB/Swiss-Prot

B4DFL0, O60936, O60937

UniProtKB/TrEMBL

Q5TZN6
XM_054314288.1 → XP_054170263.1 nucleolar protein 3 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001185058.1: Suppressed sequence

Description

NM_001185058.1: This RefSeq has been replaced by NM_001276312.1.
NM_001276319.2: Suppressed sequence

Description

NM_001276319.2: This RefSeq was removed because currently there is support for the transcript but not for the protein.