C1QTNF3 C1q and TNF related 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: C1QTNF3provided by HGNC
Official Full Name: C1q and TNF related 3provided by HGNC
Primary source: HGNC:HGNC:14326
See related: Ensembl:ENSG00000082196 MIM:612045; AllianceGenome:HGNC:14326
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CORS; CORCS; CTRP3; CORS26; C1ATNF3; CORS-26
Summary: Enables identical protein binding activity. Involved in several processes, including intracellular triglyceride homeostasis; negative regulation of non-canonical NF-kappaB signal transduction; and regulation of cytokine production. Acts upstream of or within negative regulation of gluconeogenesis. Located in extracellular exosome and membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in esophagus (RPKM 12.4), urinary bladder (RPKM 10.0) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5p13.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (34017858..34244724, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (34139780..34489333, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (34017963..34244829, complement)

Chromosome 5 - NC_000005.10 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?

The relationships between biological novel biomarkers Lp-PLA2 and CTRP-3 and CVD in patients with type 2 diabetes mellitus.
Title: The relationships between biological novel biomarkers Lp-PLA(2) and CTRP-3 and CVD in patients with type 2 diabetes mellitus.
Decreased circulating CTRP3 levels in acute and chronic cardiovascular patients.
Title: Decreased circulating CTRP3 levels in acute and chronic cardiovascular patients.
Clinical Significance of Serum CTRP3 Level in the Prediction of Cardiac and Intestinal Mucosal Barrier Dysfunction in Patients with Severe Acute Pancreatitis.
Title: Clinical Significance of Serum CTRP3 Level in the Prediction of Cardiac and Intestinal Mucosal Barrier Dysfunction in Patients with Severe Acute Pancreatitis.
FOXO6 transcription inhibition of CTRP3 promotes OGD/R-triggered cardiac microvascular endothelial barrier disruption via SIRT1/Nrf2 signalling.
Title: FOXO6 transcription inhibition of CTRP3 promotes OGD/R-triggered cardiac microvascular endothelial barrier disruption via SIRT1/Nrf2 signalling.
CTRP3 attenuates inflammation, oxidative and cell death in cisplatin induced HK-2 cells.
Title: CTRP3 attenuates inflammation, oxidative and cell death in cisplatin induced HK-2 cells.
KLF10 knockdown negatively regulates CTRP3 to improve OGD/R-induced brain microvascular endothelial cell injury and barrier dysfunction through Nrf2/HO-1 signaling pathway.
Title: KLF10 knockdown negatively regulates CTRP3 to improve OGD/R-induced brain microvascular endothelial cell injury and barrier dysfunction through Nrf2/HO-1 signaling pathway.
Clinical Diagnostic Values of C1q/TNF-Related Protein-3 for Polycystic Ovary Syndrome Women with Insulin Resistance.
Title: Clinical Diagnostic Values of C1q/TNF-Related Protein-3 for Polycystic Ovary Syndrome Women with Insulin Resistance.
Adipokine C1q/Tumor Necrosis Factor- Related Protein 3 (CTRP3) Attenuates Intestinal Inflammation Via Sirtuin 1/NF-kappaB Signaling.
Title: Adipokine C1q/Tumor Necrosis Factor- Related Protein 3 (CTRP3) Attenuates Intestinal Inflammation Via Sirtuin 1/NF-κB Signaling.
CTRP3 as a novel biomarker in the plasma of Saudi children with autism.
Title: CTRP3 as a novel biomarker in the plasma of Saudi children with autism.
Exenatide increases CTRP3 gene expression in adipose cells by inhibiting adipogenesis and induces apoptosis.
Title: Exenatide increases CTRP3 gene expression in adipose cells by inhibiting adipogenesis and induces apoptosis.

Submit: New GeneRIF Correction See all GeneRIFs (63)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

G42361 (e-PCR)
- UniSTS:94220

WI-22131 (e-PCR)
- UniSTS:72304

STS-AA025644 (e-PCR)
- UniSTS:1427

GDB:335751 (e-PCR)
- UniSTS:156601

Readthrough C1QTNF3-AMACR

Readthrough gene: C1QTNF3-AMACR, Included gene: AMACR

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 fat cell differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in intracellular triglyceride homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of gluconeogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of gluconeogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of interleukin-6 production	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of monocyte chemotactic protein-1 production	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of non-canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of adiponectin secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cytokine production	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of collagen trimer	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: complement C1q tumor necrosis factor-related protein 3

Names: C1q and tumor necrosis factor related protein 3; cartonectin; collagenous repeat-containing sequence 26 kDa protein; collagenous repeat-containing sequence of 26-kDa; secretory protein CORS26

NP_112207.1

EC 5.1.99.4

NP_852100.3

EC 5.1.99.4

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.

mRNA and Protein(s)

NM_030945.4 → NP_112207.1 complement C1q tumor necrosis factor-related protein 3 isoform a precursor

See identical proteins and their annotated locations for NP_112207.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shortest transcript and encodes the shorter isoform (a).

Source sequence(s)

AC139783, AF329837, AK295968, BX640995

Consensus CDS

CCDS3904.1

UniProtKB/Swiss-Prot

Q0VAN4, Q542Y2, Q6MZN1, Q96KY1, Q9BXJ4

Related

ENSP00000231338.7, ENST00000231338.7

Conserved Domains (2) summary

pfam01391
Location:71 → 113

Collagen; Collagen triple helix repeat (20 copies)

pfam00386
Location:119 → 242

C1q; C1q domain
NM_181435.6 → NP_852100.3 complement C1q tumor necrosis factor-related protein 3 isoform b precursor

See identical proteins and their annotated locations for NP_852100.3

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site that results in an additional segment in the 5' coding region, compared to variant 1. The encoded isoform (b) is longer than isoform a.

Source sequence(s)

AC139783, AK295968, BX640995

Consensus CDS

CCDS34141.1

UniProtKB/Swiss-Prot

Q9BXJ4

Related

ENSP00000371497.3, ENST00000382065.8

Conserved Domains (2) summary

pfam01391
Location:144 → 186

Collagen; Collagen triple helix repeat (20 copies)

pfam00386
Location:192 → 315

C1q; C1q domain

RNA

NR_146599.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses a different 5' exon structure compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.

Source sequence(s)

AC138409, AC139783, AC139792