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C1QTNF1 C1q and TNF related 1 [ Homo sapiens (human) ]

Gene ID: 114897, updated on 2-Nov-2024

Summary

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Official Symbol
C1QTNF1provided by HGNC
Official Full Name
C1q and TNF related 1provided by HGNC
Primary source
HGNC:HGNC:14324
See related
Ensembl:ENSG00000173918 MIM:610365; AllianceGenome:HGNC:14324
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
GIP; CTRP1; ZSIG37
Summary
Enables collagen binding activity. Involved in several processes, including negative regulation of platelet aggregation; positive regulation of aldosterone secretion; and positive regulation of cytosolic calcium ion concentration. Located in extracellular space and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in fat (RPKM 33.8), placenta (RPKM 15.4) and 21 other tissues See more
Orthologs
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Genomic context

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See C1QTNF1 in Genome Data Viewer
Location:
17q25.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (79022934..79049788)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (79917861..79944721)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (77019016..77045870)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 6708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76972258-76972941 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76976039-76977031 Neighboring gene galectin 3 binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9078 Neighboring gene C1QTNF1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77040047-77040547 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:77042736-77043935 Neighboring gene calcium activated nucleotidase 1 Neighboring gene Sharpr-MPRA regulatory region 5335 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9079 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77094193-77094906 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77099175-77100160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77112846-77113750 Neighboring gene endo-beta-N-acetylglucosaminidase Neighboring gene RNA binding fox-1 homolog 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77157651-77158151 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:77173286-77173965 Neighboring gene uncharacterized LOC124904069 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77179359-77180239

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. CTRP1: A novel player in cardiovascular and metabolic diseases. Wang Y, et al. Cytokine, 2023 Apr. PMID 36812667
  2. An intracellular role for the C1q-globular domain. Innamorati G, et al. Cell Signal, 2006 Jun. PMID 16386877
  3. Development of a novel enzyme-linked immunosorbent assay (ELISA) for measurement of serum CTRP1: a pilot study: measurement of serum CTRP1 in healthy donors and patients with metabolic syndrome. Chalupova L, et al. Clin Biochem, 2013 Jan. PMID 23000311
  4. Circulating complement-C1q TNF-related protein 1 levels are increased in patients with type 2 diabetes and are associated with insulin sensitivity in Chinese subjects. Pan X, et al. PLoS One, 2014. PMID 24827430, Free PMC Article
  5. Association of circulating C1q/TNF-related protein 1 levels with coronary artery disease in men. Yuasa D, et al. PLoS One, 2014. PMID 24945145, Free PMC Article

See all (51) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The association between complement C1q tumour necrosis factor-related protein-1 (CTRP-1) level and metabolic syndrome.
    Title: The association between complement C1q tumour necrosis factor-related protein-1 (CTRP-1) level and metabolic syndrome.
  2. CTRP1: A novel player in cardiovascular and metabolic diseases.
    Title: CTRP1: A novel player in cardiovascular and metabolic diseases.
  3. CTRP1 prevents high fat diet-induced obesity and improves glucose homeostasis in obese and STZ-induced diabetic mice.
    Title: CTRP1 prevents high fat diet-induced obesity and improves glucose homeostasis in obese and STZ-induced diabetic mice.
  4. Novel Adipokines CTRP1, CTRP9, and FGF21 in Pediatric Type 1 and Type 2 Diabetes: A Cross-Sectional Analysis.
    Title: Novel Adipokines CTRP1, CTRP9, and FGF21 in Pediatric Type 1 and Type 2 Diabetes: A Cross-Sectional Analysis.
  5. C1q Tumor Necrosis Factor-Related Protein 1: A Promising Therapeutic Target for Atherosclerosis.
    Title: C1q Tumor Necrosis Factor-Related Protein 1: A Promising Therapeutic Target for Atherosclerosis.
  6. C1q/TNF-related protein-1: Potential biomarker for early diagnosis of autism spectrum disorder.
    Title: C1q/TNF-related protein-1: Potential biomarker for early diagnosis of autism spectrum disorder.
  7. CTRP1 decreases ABCA1 expression and promotes lipid accumulation through the miR-424-5p/FoxO1 pathway in THP-1 macrophage-derived foam cells.
    Title: CTRP1 decreases ABCA1 expression and promotes lipid accumulation through the miR-424-5p/FoxO1 pathway in THP-1 macrophage-derived foam cells.
  8. Hypomethylation of C1q/tumor necrosis factor-related protein-1 promoter region in whole blood and risks for coronary artery aneurysms in Kawasaki disease.
    Title: Hypomethylation of C1q/tumor necrosis factor-related protein-1 promoter region in whole blood and risks for coronary artery aneurysms in Kawasaki disease.
  9. CTRP-1 levels are related to insulin resistance in pregnancy and gestational diabetes mellitus.
    Title: CTRP-1 levels are related to insulin resistance in pregnancy and gestational diabetes mellitus.
  10. Methylation of CpG sites in C1QTNF1 (C1q and tumor necrosis factor related protein 1) differs by gender in acute coronary syndrome in Han population: a case-control study.
    Title: Methylation of CpG sites in C1QTNF1 (C1q and tumor necrosis factor related protein 1) differs by gender in acute coronary syndrome in Han population: a case-control study.
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

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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Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of C1q and tumor necrosis factor related protein 1 (C1QTNF1) in peptide-treated PBMCs 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

Homology

Clone Names

  • FLJ90694

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables collagen binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of platelet activation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of platelet aggregation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of MAPK cascade IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of aldosterone secretion IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of cytosolic calcium ion concentration IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of gene expression IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of glucose metabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of collagen trimer IEA
Inferred from Electronic Annotation
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
complement C1q tumor necrosis factor-related protein 1
Names
C1q and tumor necrosis factor related protein 1
G protein coupled receptor interacting protein
g protein-coupled receptor-interacting protein

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)

  1. NM_030968.5 → NP_112230.1  complement C1q tumor necrosis factor-related protein 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_112230.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1. Variants 1-3 encode the same protein.
    Source sequence(s)
    AC073624, AY358424
    Consensus CDS
    CCDS11761.1
    UniProtKB/Swiss-Prot
    Q6ZMH6, Q96NF2, Q9BXJ1, Q9GZR4
    UniProtKB/TrEMBL
    A8K7L9
    Related
    ENSP00000463922.1, ENST00000579760.6
    Conserved Domains (2) summary
    pfam01391
    Location:99 → 140
    Collagen; Collagen triple helix repeat (20 copies)
    pfam00386
    Location:147 → 275
    C1q; C1q domain

  2. NM_153372.3 → NP_699203.1  complement C1q tumor necrosis factor-related protein 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_699203.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and represents the use of an alternate promoter, compared to variant 1. Variants 1-3 encode the same protein.
    Source sequence(s)
    AC073624, AY358424, DA877694
    Consensus CDS
    CCDS11761.1
    UniProtKB/Swiss-Prot
    Q6ZMH6, Q96NF2, Q9BXJ1, Q9GZR4
    UniProtKB/TrEMBL
    A8K7L9
    Related
    ENSP00000343230.4, ENST00000354124.7
    Conserved Domains (2) summary
    pfam01391
    Location:99 → 140
    Collagen; Collagen triple helix repeat (20 copies)
    pfam00386
    Location:147 → 275
    C1q; C1q domain

  3. NM_198593.4 → NP_940995.1  complement C1q tumor necrosis factor-related protein 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_940995.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and represents the use of an alternate promoter, compared to variant 1. Variants 1-3 encode the same protein.
    Source sequence(s)
    AY358424, DB126803
    Consensus CDS
    CCDS11761.1
    UniProtKB/Swiss-Prot
    Q6ZMH6, Q96NF2, Q9BXJ1, Q9GZR4
    UniProtKB/TrEMBL
    A8K7L9
    Related
    ENSP00000462481.2, ENST00000581774.5
    Conserved Domains (2) summary
    pfam01391
    Location:99 → 140
    Collagen; Collagen triple helix repeat (20 copies)
    pfam00386
    Location:147 → 275
    C1q; C1q domain

  4. NM_198594.4 → NP_940996.1  complement C1q tumor necrosis factor-related protein 1 isoform 2

    See identical proteins and their annotated locations for NP_940996.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an exon in the 5' coding region, compared to variant 1, which results in the use of an in-frame downstream start codon. This variant encodes a protein (isoform 2) with a shorter N-terminus that is predicted to lack a signal peptide, compared to isoform 1.
    Source sequence(s)
    AY358424, BC021553, DA938689, HY047084
    Consensus CDS
    CCDS11762.1
    UniProtKB/TrEMBL
    A0A0C4DFP7
    Related
    ENSP00000311265.4, ENST00000311661.4
    Conserved Domains (2) summary
    pfam01391
    Location:17 → 58
    Collagen; Collagen triple helix repeat (20 copies)
    pfam00386
    Location:65 → 193
    C1q; C1q domain

RNA

  1. NR_049769.3 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and represents the use of an alternate promoter, compared to variant 1. It is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC073624, AK292034, AY358424, DA875119

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    79022934..79049788
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047435297.1 → XP_047291253.1  complement C1q tumor necrosis factor-related protein 1 isoform X4

    UniProtKB/Swiss-Prot
    Q6ZMH6, Q96NF2, Q9BXJ1, Q9GZR4

  2. XM_047435296.1 → XP_047291252.1  complement C1q tumor necrosis factor-related protein 1 isoform X2

  3. XM_006721664.2 → XP_006721727.1  complement C1q tumor necrosis factor-related protein 1 isoform X3

    UniProtKB/TrEMBL
    A8K7L9
    Conserved Domains (2) summary
    pfam01391
    Location:148 → 189
    Collagen; Collagen triple helix repeat (20 copies)
    pfam00386
    Location:196 → 324
    C1q; C1q domain

  4. XM_024450561.2 → XP_024306329.1  complement C1q tumor necrosis factor-related protein 1 isoform X4

    UniProtKB/Swiss-Prot
    Q6ZMH6, Q96NF2, Q9BXJ1, Q9GZR4
    UniProtKB/TrEMBL
    A8K7L9
    Conserved Domains (2) summary
    pfam01391
    Location:99 → 140
    Collagen; Collagen triple helix repeat (20 copies)
    pfam00386
    Location:147 → 275
    C1q; C1q domain

  5. XM_047435295.1 → XP_047291251.1  complement C1q tumor necrosis factor-related protein 1 isoform X2

  6. XM_006721666.2 → XP_006721729.1  complement C1q tumor necrosis factor-related protein 1 isoform X2

    See identical proteins and their annotated locations for XP_006721729.1

    UniProtKB/TrEMBL
    A8K7L9
    Conserved Domains (2) summary
    pfam01391
    Location:109 → 150
    Collagen; Collagen triple helix repeat (20 copies)
    pfam00386
    Location:157 → 285
    C1q; C1q domain

  7. XM_006721663.1 → XP_006721726.1  complement C1q tumor necrosis factor-related protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006721726.1

    UniProtKB/TrEMBL
    A0A3B0J271
    Conserved Domains (2) summary
    pfam01391
    Location:197 → 238
    Collagen; Collagen triple helix repeat (20 copies)
    pfam00386
    Location:245 → 373
    C1q; C1q domain

  8. XM_017024126.1 → XP_016879615.1  complement C1q tumor necrosis factor-related protein 1 isoform X5

    UniProtKB/TrEMBL
    A0A0C4DFP7
    Conserved Domains (2) summary
    pfam01391
    Location:17 → 58
    Collagen; Collagen triple helix repeat (20 copies)
    pfam00386
    Location:65 → 193
    C1q; C1q domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    79917861..79944721
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054314952.1 → XP_054170927.1  complement C1q tumor necrosis factor-related protein 1 isoform X4

    UniProtKB/Swiss-Prot
    Q6ZMH6, Q96NF2, Q9BXJ1, Q9GZR4

  2. XM_054314951.1 → XP_054170926.1  complement C1q tumor necrosis factor-related protein 1 isoform X2

  3. XM_054314949.1 → XP_054170924.1  complement C1q tumor necrosis factor-related protein 1 isoform X3

  4. XM_054314953.1 → XP_054170928.1  complement C1q tumor necrosis factor-related protein 1 isoform X4

    UniProtKB/Swiss-Prot
    Q6ZMH6, Q96NF2, Q9BXJ1, Q9GZR4

  5. XM_054314950.1 → XP_054170925.1  complement C1q tumor necrosis factor-related protein 1 isoform X2

  6. XM_054314948.1 → XP_054170923.1  complement C1q tumor necrosis factor-related protein 1 isoform X2

  7. XM_054314947.1 → XP_054170922.1  complement C1q tumor necrosis factor-related protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A3B0J271

  8. XM_054314954.1 → XP_054170929.1  complement C1q tumor necrosis factor-related protein 1 isoform X5

    UniProtKB/TrEMBL
    A0A0C4DFP7
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BXJ1.1 GenPept UniProtKB/Swiss-Prot:Q9BXJ1

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