Aliases for C1QTNF1 Gene

Aliases for C1QTNF1 Gene

  • C1q And TNF Related 1 2 3 5
  • Complement C1q Tumor Necrosis Factor-Related Protein 1 3 4
  • C1q And Tumor Necrosis Factor Related Protein 1 2 3
  • G Protein-Coupled Receptor-Interacting Protein 3 4
  • G Protein Coupled Receptor Interacting Protein 2 3
  • CTRP1 3 4
  • GIP 3 4
  • ZSIG37 3

External Ids for C1QTNF1 Gene

Previous GeneCards Identifiers for C1QTNF1 Gene

  • GC17U990301
  • GC17M080159
  • GC17P077481
  • GC17P077627
  • GC17P077617
  • GC17P074531
  • GC17P077020
  • GC17P072443

Summaries for C1QTNF1 Gene

GeneCards Summary for C1QTNF1 Gene

C1QTNF1 (C1q And TNF Related 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include collagen binding. An important paralog of this gene is C1QTNF8.

Gene Wiki entry for C1QTNF1 Gene

Additional gene information for C1QTNF1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C1QTNF1 Gene

Genomics for C1QTNF1 Gene

GeneHancer (GH) Regulatory Elements for C1QTNF1 Gene

Promoters and enhancers for C1QTNF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J079022 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 764.8 +2.7 2705 6.5 CTCF LCORL MLX RBPJ POLR2A NR2F6 CREB1 MIXL1 NFYC HLF C1QTNF1 lnc-ENGASE-2 ENGASE CANT1 C1QTNF1-AS1
GH17J079033 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 771.7 +13.7 13687 9 POLR2A USF2 RELA HLF ZNF121 ZIC2 CEBPA ZBTB8A CEBPB JUN C1QTNF1 CANT1 ENGASE BIRC5 CYTH1 USP36 C1QTNF1-AS1 HSALNG0119091
GH17J079072 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 21.6 +51.7 51701 3.8 ZNF24 SP1 ZBTB6 RBPJ POLR2A TCF7L2 NFYC L3MBTL2 SREBF1 MNT ENGASE C1QTNF1 USP36 CANT1 piR-44582
GH17J079007 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 16.7 -12.7 -12724 5.2 ZBTB40 SIX5 LCORL MLX POLR2A HCFC1 MIXL1 ZNF362 NFYC ELF1 CANT1 lnc-LGALS3BP-4 USP36 C1QTNF1 TMEM235 TIMP2 ENGASE
GH17J078265 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 16.4 -753.1 -753061 9.3 SIN3A SMARCE1 CC2D1A L3MBTL2 DACH1 MNT TEAD4 ZNF652 ZKSCAN8 ZNF148 USP36 C1QTNF1 PGS1 ENGASE TMEM235 ENSG00000200063 TIMP2 CANT1 TMC8 TMC6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C1QTNF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C1QTNF1 gene promoter:
  • Sp1

Genomic Locations for C1QTNF1 Gene

Genomic Locations for C1QTNF1 Gene
chr17:79,022,814-79,049,788
(GRCh38/hg38)
Size:
26,975 bases
Orientation:
Plus strand
chr17:77,018,896-77,045,870
(GRCh37/hg19)
Size:
26,975 bases
Orientation:
Plus strand

Genomic View for C1QTNF1 Gene

Genes around C1QTNF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C1QTNF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C1QTNF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C1QTNF1 Gene

Proteins for C1QTNF1 Gene

  • Protein details for C1QTNF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXJ1-C1QT1_HUMAN
    Recommended name:
    Complement C1q tumor necrosis factor-related protein 1
    Protein Accession:
    Q9BXJ1
    Secondary Accessions:
    • Q6ZMH6
    • Q96NF2
    • Q9GZR4

    Protein attributes for C1QTNF1 Gene

    Size:
    281 amino acids
    Molecular mass:
    31743 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAG44303.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAC20425.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for C1QTNF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C1QTNF1 Gene

Post-translational modifications for C1QTNF1 Gene

  • Glycosylation at Asn93
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for C1QTNF1 Gene

Domains & Families for C1QTNF1 Gene

Gene Families for C1QTNF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for C1QTNF1 Gene

GenScript: Design optimal peptide antigens:
  • G protein-coupled receptor-interacting protein (C1QT1_HUMAN)
genes like me logo Genes that share domains with C1QTNF1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C1QTNF1 Gene

Function for C1QTNF1 Gene

Phenotypes From GWAS Catalog for C1QTNF1 Gene

Gene Ontology (GO) - Molecular Function for C1QTNF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12409230
GO:0005518 collagen binding IDA 16195328
genes like me logo Genes that share ontologies with C1QTNF1: view
genes like me logo Genes that share phenotypes with C1QTNF1: view

Animal Models for C1QTNF1 Gene

MGI Knock Outs for C1QTNF1:

Animal Model Products

  • Taconic Biosciences Mouse Models for C1QTNF1

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for C1QTNF1 Gene

Localization for C1QTNF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C1QTNF1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C1QTNF1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
lysosome 0

Gene Ontology (GO) - Cellular Components for C1QTNF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005581 collagen trimer IEA --
GO:0005615 extracellular space IDA 18171693
GO:0005887 integral component of plasma membrane IDA 12409230
genes like me logo Genes that share ontologies with C1QTNF1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C1QTNF1 Gene

Pathways & Interactions for C1QTNF1 Gene

PathCards logo

SuperPathways for C1QTNF1 Gene

No Data Available

Interacting Proteins for C1QTNF1 Gene

Gene Ontology (GO) - Biological Process for C1QTNF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007204 positive regulation of cytosolic calcium ion concentration IDA 18171693
GO:0010544 negative regulation of platelet activation IDA 16195328
GO:0010628 positive regulation of gene expression IDA 18171693
GO:0010906 regulation of glucose metabolic process IEA --
GO:0043410 positive regulation of MAPK cascade IEA --
genes like me logo Genes that share ontologies with C1QTNF1: view

No data available for Pathways by source and SIGNOR curated interactions for C1QTNF1 Gene

Drugs & Compounds for C1QTNF1 Gene

No Compound Related Data Available

Transcripts for C1QTNF1 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C1QTNF1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d · 9e · 9f · 9g
SP1: - - -
SP2: - - - - - - - - - -
SP3: - -
SP4: - - - - - - -
SP5: - - - - -
SP6: -
SP7: - - - -
SP8: - - - - - - - - -
SP9: - - - - - - -
SP10:

Relevant External Links for C1QTNF1 Gene

GeneLoc Exon Structure for
C1QTNF1
ECgene alternative splicing isoforms for
C1QTNF1

Expression for C1QTNF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C1QTNF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C1QTNF1 Gene

This gene is overexpressed in Artery - Coronary (x6.2), Artery - Tibial (x5.5), Heart - Atrial Appendage (x4.7), and Artery - Aorta (x4.0).

Protein differential expression in normal tissues from HIPED for C1QTNF1 Gene

This gene is overexpressed in Milk (57.1) and Placenta (11.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C1QTNF1 Gene



Protein tissue co-expression partners for C1QTNF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of C1QTNF1 Gene:

C1QTNF1

SOURCE GeneReport for Unigene cluster for C1QTNF1 Gene:

Hs.201398

Evidence on tissue expression from TISSUES for C1QTNF1 Gene

  • Intestine(4.2)
  • Skin(4.2)
  • Heart(2.1)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with C1QTNF1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C1QTNF1 Gene

Orthologs for C1QTNF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C1QTNF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C1QTNF1 33 32
  • 90.74 (n)
OneToOne
dog
(Canis familiaris)
Mammalia C1QTNF1 33 32
  • 86.81 (n)
OneToOne
cow
(Bos Taurus)
Mammalia C1QTNF1 33 32
  • 86.26 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia C1qtnf1 32
  • 82.8 (n)
mouse
(Mus musculus)
Mammalia C1qtnf1 17 33 32
  • 81.97 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C1QTNF1 33
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C1QTNF1 33
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1QTNF1 32
  • 77.17 (n)
-- 33
  • 54 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia C1QTNF1 33
  • 65 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC100538079 32
  • 71.77 (n)
c1qtnf1 33 33
  • 61 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 15 (a)
OneToMany
Species where no ortholog for C1QTNF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C1QTNF1 Gene

ENSEMBL:
Gene Tree for C1QTNF1 (if available)
TreeFam:
Gene Tree for C1QTNF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for C1QTNF1: view image

Paralogs for C1QTNF1 Gene

(4) SIMAP similar genes for C1QTNF1 Gene using alignment to 2 proteins:

  • C1QT1_HUMAN
  • Q6ZMH6_HUMAN
genes like me logo Genes that share paralogs with C1QTNF1: view

Variants for C1QTNF1 Gene

Sequence variations from dbSNP and Humsavar for C1QTNF1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000052875 -- 79,029,233(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000147926 -- 79,034,630(+) T/A genic_upstream_transcript_variant, intron_variant
rs1000263656 -- 79,033,762(+) C/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000310947 -- 79,040,173(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000356766 -- 79,049,130(+) C/A 3_prime_UTR_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for C1QTNF1 Gene

Variant ID Type Subtype PubMed ID
dgv1825e59 CNV duplication 20981092
esv3641342 CNV loss 21293372
esv3641343 CNV loss 21293372
nsv1057193 CNV gain 25217958
nsv2156 CNV deletion 18451855
nsv470610 CNV loss 18288195
nsv470611 CNV gain 18288195
nsv521186 CNV loss 19592680
nsv523650 CNV loss 19592680
nsv833556 CNV loss 17160897

Variation tolerance for C1QTNF1 Gene

Residual Variation Intolerance Score: 40.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.03; 21.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C1QTNF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C1QTNF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C1QTNF1 Gene

Disorders for C1QTNF1 Gene

Additional Disease Information for C1QTNF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for C1QTNF1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C1QTNF1 Gene

Publications for C1QTNF1 Gene

  1. Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study. (PMID: 18842294) Ennis S … Lotery A (Lancet (London, England) 2008) 3 43 56
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 56
  5. GIP, a G-protein-coupled receptor interacting protein. (PMID: 12409230) Innamorati G … Birnbaumer M (Regulatory peptides 2002) 2 3 56

Products for C1QTNF1 Gene

Sources for C1QTNF1 Gene