The human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the serum complement system. The protein encoded by this gene is known to bind to the globular heads of C1q molecules and inhibit C1 activation. This protein has also been identified as the p32 subunit of pre-mRNA splicing factor SF2, as well as a hyaluronic acid-binding p... See more...

Aliases for C1QBP Gene

Aliases for C1QBP Gene

  • Complement C1q Binding Protein 2 3 5
  • Hyaluronan-Binding Protein 1 2 3 4
  • Complement Component 1 Q Subcomponent-Binding Protein, Mitochondrial 3 4
  • Complement Component 1, Q Subcomponent Binding Protein 2 3
  • Splicing Factor SF2-Associated Protein 2 3
  • C1q Globular Domain-Binding Protein 2 3
  • Mitochondrial Matrix Protein P32 3 4
  • ASF/SF2-Associated Protein P32 3 4
  • Glycoprotein GC1qBP 3 4
  • SF2AP32 3 4
  • GC1QBP 3 4
  • SF2p32 2 3
  • GC1Q-R 2 3
  • HABP1 3 4
  • GC1qR 2 3
  • P32 2 3
  • P33 3 4
  • GC1q-R Protein 4
  • COXPD33 3
  • SF2P32 4
  • C1QBP 5
  • C1qBP 4

External Ids for C1QBP Gene

Previous HGNC Symbols for C1QBP Gene

  • HABP1

Previous GeneCards Identifiers for C1QBP Gene

  • GC17M005721
  • GC17M005675
  • GC17M005280
  • GC17M005536
  • GC17M005276
  • GC17M005226
  • GC17M005336

Summaries for C1QBP Gene

Entrez Gene Summary for C1QBP Gene

  • The human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the serum complement system. The protein encoded by this gene is known to bind to the globular heads of C1q molecules and inhibit C1 activation. This protein has also been identified as the p32 subunit of pre-mRNA splicing factor SF2, as well as a hyaluronic acid-binding protein. [provided by RefSeq, Jul 2008]

GeneCards Summary for C1QBP Gene

C1QBP (Complement C1q Binding Protein) is a Protein Coding gene. Diseases associated with C1QBP include Combined Oxidative Phosphorylation Deficiency 33 and Rubella. Among its related pathways are Immune response Lectin induced complement pathway and Formation of Fibrin Clot (Clotting Cascade). Gene Ontology (GO) annotations related to this gene include transcription factor binding and mRNA binding.

UniProtKB/Swiss-Prot Summary for C1QBP Gene

  • Is believed to be a multifunctional and multicompartmental protein involved in inflammation and infection processes, ribosome biogenesis, protein synthesis in mitochondria, regulation of apoptosis, transcriptional regulation and pre-mRNA splicing. At the cell surface is thought to act as an endothelial receptor for plasma proteins of the complement and kallikrein-kinin cascades. Putative receptor for C1q; specifically binds to the globular 'heads' of C1q thus inhibiting C1; may perform the receptor function through a complex with C1qR/CD93. In complex with cytokeratin-1/KRT1 is a high affinity receptor for kininogen-1/HMWK. Can also bind other plasma proteins, such as coagulation factor XII leading to its autoactivation. May function to bind initially fluid kininogen-1 to the cell membrane. The secreted form may enhance both extrinsic and intrinsic coagulation pathways. It is postulated that the cell surface form requires docking with transmembrane proteins for downstream signaling which might be specific for a cell-type or response. By acting as C1q receptor is involved in chemotaxis of immature dendritic cells and neutrophils and is proposed to signal through CD209/DC-SIGN on immature dendritic cells, through integrin alpha-4/beta-1 during trophoblast invasion of the decidua, and through integrin beta-1 during endothelial cell adhesion and spreading. Signaling involved in inhibition of innate immune response is implicating the PI3K-AKT/PKB pathway. Required for protein synthesis in mitochondria (PubMed:28942965). In mitochondrial translation may be involved in formation of functional 55S mitoribosomes; the function seems to involve its RNA-binding activity. May be involved in the nucleolar ribosome maturation process; the function may involve the exchange of FBL for RRP1 in the association with pre-ribosome particles. Involved in regulation of RNA splicing by inhibiting the RNA-binding capacity of SRSF1 and its phosphorylation. Is required for the nuclear translocation of splicing factor U2AF1L4. Involved in regulation of CDKN2A- and HRK-mediated apoptosis. Stabilizes mitochondrial CDKN2A isoform smARF. May be involved in regulation of FOXC1 transcriptional activity and NFY/CCAAT-binding factor complex-mediated transcription. May play a role in antibacterial defense as it can bind to cell surface hyaluronan and inhibit Streptococcus pneumoniae hyaluronate lyase. May be involved in modulation of the immune response; ligation by HCV core protein is resulting in suppression of interleukin-12 production in monocyte-derived dendritic cells. Involved in regulation of antiviral response by inhibiting DDX58- and IFIH1-mediated signaling pathways probably involving its association with MAVS after viral infection.
  • (Microbial infection) Involved in HIV-1 replication, presumably by contributing to splicing of viral RNA.
  • (Microbial infection) In infection processes acts as an attachment site for microbial proteins, including Listeria monocytogenes internalin B (InlB) and Staphylococcus aureus protein A.
  • (Microbial infection) Involved in replication of Rubella virus.

Gene Wiki entry for C1QBP Gene

Additional gene information for C1QBP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C1QBP Gene

Genomics for C1QBP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C1QBP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C1QBP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C1QBP

Top Transcription factor binding sites by QIAGEN in the C1QBP gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • SRF
  • SRF (504 AA)

Genomic Locations for C1QBP Gene

Genomic Locations for C1QBP Gene
chr17:5,432,777-5,448,830
(GRCh38/hg38)
Size:
16,054 bases
Orientation:
Minus strand
chr17:5,336,097-5,352,150
(GRCh37/hg19)
Size:
16,054 bases
Orientation:
Minus strand

Genomic View for C1QBP Gene

Genes around C1QBP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C1QBP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C1QBP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C1QBP Gene

Proteins for C1QBP Gene

  • Protein details for C1QBP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q07021-C1QBP_HUMAN
    Recommended name:
    Complement component 1 Q subcomponent-binding protein, mitochondrial
    Protein Accession:
    Q07021
    Secondary Accessions:
    • Q2HXR8
    • Q9NNY8

    Protein attributes for C1QBP Gene

    Size:
    282 amino acids
    Molecular mass:
    31362 Da
    Quaternary structure:
    • Homotrimer; three monomers form a donut-shaped structure with an unusually asymmetric charge distribution on the surface. Interacts with CDK13, HRK, VTN, NFYB, ADRA1B, FOXC1, DDX21, DDX50, NCL, SRSF1, SRSF9 and CDKN2A isoform smARF. Interacts with CD93; the association may represent a cell surface C1q receptor. Interacts with KRT1; the association represents a cell surface kininogen receptor. Interacts with CD209; the interaction is indicative for a C1q:C1QBP:CD209 signaling complex. Interacts with FBL and RRP1; the respective interactions with C1QBP are competetive. Probably associates with the mitoribosome. Interacts with MAVS; the interaction occurs upon viral transfection. Interacts with PPIF. Interacts with U2AF1L4. Interacts with PLEKHN1 (PubMed:18191643). Interacts with VGF-derived peptide TLQP-21 (By similarity).
    • (Microbial infection) Interacts with Rubella virus capsid protein; the interaction occurs in mitochondria (PubMed:10823864, PubMed:12034482). Interacts with Rubella virus protease/methyltransferase p150 (PubMed:22238231).
    • (Microbial infection) Interacts with Staphylococcus aureus protein A/spa.
    • (Microbial infection) Interacts with Staphylococcus aureus protein A/spa, HIV-1 Tat and HCV core protein.
    • (Microbial infection) Interacts with HIV-1 Tat and HCV core protein.
    • (Microbial infection) Interacts with L.monocytogenes internalin B.

    Three dimensional structures from OCA and Proteopedia for C1QBP Gene

neXtProt entry for C1QBP Gene

Post-translational modifications for C1QBP Gene

  • Ubiquitination at Lys104
  • Modification sites at PhosphoSitePlus

Other Protein References for C1QBP Gene

Antibody Products

  • Abcam antibodies for C1QBP

No data available for DME Specific Peptides for C1QBP Gene

Domains & Families for C1QBP Gene

Gene Families for C1QBP Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Transporters

Protein Domains for C1QBP Gene

InterPro:
Blocks:
  • Mitochondrial glycoprotein
ProtoNet:

Suggested Antigen Peptide Sequences for C1QBP Gene

GenScript: Design optimal peptide antigens:
  • p33 (C1QBP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q07021

UniProtKB/Swiss-Prot:

C1QBP_HUMAN :
  • Belongs to the MAM33 family.
Family:
  • Belongs to the MAM33 family.
genes like me logo Genes that share domains with C1QBP: view

Function for C1QBP Gene

Molecular function for C1QBP Gene

UniProtKB/Swiss-Prot Function:
Is believed to be a multifunctional and multicompartmental protein involved in inflammation and infection processes, ribosome biogenesis, protein synthesis in mitochondria, regulation of apoptosis, transcriptional regulation and pre-mRNA splicing. At the cell surface is thought to act as an endothelial receptor for plasma proteins of the complement and kallikrein-kinin cascades. Putative receptor for C1q; specifically binds to the globular 'heads' of C1q thus inhibiting C1; may perform the receptor function through a complex with C1qR/CD93. In complex with cytokeratin-1/KRT1 is a high affinity receptor for kininogen-1/HMWK. Can also bind other plasma proteins, such as coagulation factor XII leading to its autoactivation. May function to bind initially fluid kininogen-1 to the cell membrane. The secreted form may enhance both extrinsic and intrinsic coagulation pathways. It is postulated that the cell surface form requires docking with transmembrane proteins for downstream signaling which might be specific for a cell-type or response. By acting as C1q receptor is involved in chemotaxis of immature dendritic cells and neutrophils and is proposed to signal through CD209/DC-SIGN on immature dendritic cells, through integrin alpha-4/beta-1 during trophoblast invasion of the decidua, and through integrin beta-1 during endothelial cell adhesion and spreading. Signaling involved in inhibition of innate immune response is implicating the PI3K-AKT/PKB pathway. Required for protein synthesis in mitochondria (PubMed:28942965). In mitochondrial translation may be involved in formation of functional 55S mitoribosomes; the function seems to involve its RNA-binding activity. May be involved in the nucleolar ribosome maturation process; the function may involve the exchange of FBL for RRP1 in the association with pre-ribosome particles. Involved in regulation of RNA splicing by inhibiting the RNA-binding capacity of SRSF1 and its phosphorylation. Is required for the nuclear translocation of splicing factor U2AF1L4. Involved in regulation of CDKN2A- and HRK-mediated apoptosis. Stabilizes mitochondrial CDKN2A isoform smARF. May be involved in regulation of FOXC1 transcriptional activity and NFY/CCAAT-binding factor complex-mediated transcription. May play a role in antibacterial defense as it can bind to cell surface hyaluronan and inhibit Streptococcus pneumoniae hyaluronate lyase. May be involved in modulation of the immune response; ligation by HCV core protein is resulting in suppression of interleukin-12 production in monocyte-derived dendritic cells. Involved in regulation of antiviral response by inhibiting DDX58- and IFIH1-mediated signaling pathways probably involving its association with MAVS after viral infection.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Involved in HIV-1 replication, presumably by contributing to splicing of viral RNA.
UniProtKB/Swiss-Prot Function:
(Microbial infection) In infection processes acts as an attachment site for microbial proteins, including Listeria monocytogenes internalin B (InlB) and Staphylococcus aureus protein A.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Involved in replication of Rubella virus.
UniProtKB/Swiss-Prot Induction:
Enhanced cell surface expression upon platelet and monocyte activation.
GENATLAS Biochemistry:
multifunctional protein,C1q globular binding protein,33kDa,cell surface hyaluronic acid-binding protein 1,hyaladherin family,pre-mRNA splicing factor SP2 p32 subunit,localized predominantly in mitochondrial matrix,putatively involved in nucleus-mitochondrion interactions,see C1Q@

Phenotypes From GWAS Catalog for C1QBP Gene

Gene Ontology (GO) - Molecular Function for C1QBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001849 complement component C1q binding IDA 8195709
GO:0003714 transcription corepressor activity IDA 15243141
GO:0003729 mRNA binding IBA,ISS --
GO:0005080 protein kinase C binding IEA --
GO:0005515 protein binding IPI 8710908
genes like me logo Genes that share ontologies with C1QBP: view
genes like me logo Genes that share phenotypes with C1QBP: view

Human Phenotype Ontology for C1QBP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for C1QBP Gene

MGI Knock Outs for C1QBP:

Animal Model Products

  • Taconic Biosciences Mouse Models for C1QBP

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C1QBP

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for C1QBP Gene

Localization for C1QBP Gene

Subcellular locations from UniProtKB/Swiss-Prot for C1QBP Gene

Mitochondrion matrix. Nucleus. Cell membrane. Peripheral membrane protein. Extracellular side. Secreted. Cytoplasm. Nucleus, nucleolus. Note=Seems to be predominantly localized to mitochondria. Secreted by activated lymphocytes.

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 C1QBP gene
Compartment Confidence
plasma membrane 5
mitochondrion 5
nucleus 5
cytosol 5
extracellular 3
cytoskeleton 2
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for C1QBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA --
GO:0005634 nucleus IBA,IDA 15243141
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with C1QBP: view

Pathways & Interactions for C1QBP Gene

genes like me logo Genes that share pathways with C1QBP: view

Pathways by source for C1QBP Gene

1 Sino Biological pathway for C1QBP Gene
2 BioSystems pathways for C1QBP Gene
1 Qiagen pathway for C1QBP Gene
  • Internalin Pathway
2 Cell Signaling Technology pathways for C1QBP Gene

SIGNOR curated interactions for C1QBP Gene

Activates:

Gene Ontology (GO) - Biological Process for C1QBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 15243141
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0006397 mRNA processing IEA --
GO:0006915 apoptotic process IEA --
genes like me logo Genes that share ontologies with C1QBP: view

Drugs & Compounds for C1QBP Gene

(8) Drugs for C1QBP Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 249
Hyaluronic acid Approved, Vet_approved Pharma Target, binder 717

(5) Additional Compounds for C1QBP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with C1QBP: view

Transcripts for C1QBP Gene

mRNA/cDNA for C1QBP Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C1QBP

Alternative Splicing Database (ASD) splice patterns (SP) for C1QBP Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c
SP1: - - - -
SP2: - -
SP3: - - - - -
SP4: - - - - -
SP5: - - -
SP6:

Relevant External Links for C1QBP Gene

GeneLoc Exon Structure for
C1QBP

Expression for C1QBP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C1QBP Gene

Protein differential expression in normal tissues from HIPED for C1QBP Gene

This gene is overexpressed in Peripheral blood mononuclear cells (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C1QBP Gene



Protein tissue co-expression partners for C1QBP Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C1QBP

SOURCE GeneReport for Unigene cluster for C1QBP Gene:

Hs.555866

mRNA Expression by UniProt/SwissProt for C1QBP Gene:

Q07021-C1QBP_HUMAN
Tissue specificity: Expressed on cell surface of peripheral blood cells (at protein level); Surface expression is reported for macrophages and monocyte-derived dendritic cells.

Evidence on tissue expression from TISSUES for C1QBP Gene

  • Liver(4.7)
  • Lung(4.6)
  • Nervous system(4.4)
  • Intestine(3.5)
  • Eye(3.4)
  • Heart(3.4)
  • Skin(3.3)
  • Kidney(3.2)
  • Spleen(3.2)
  • Muscle(3)
  • Lymph node(3)
  • Bone marrow(2.7)
  • Blood(2.7)
  • Adrenal gland(2.6)
  • Thyroid gland(2.5)
  • Stomach(2.4)
  • Pancreas(2.2)
genes like me logo Genes that share expression patterns with C1QBP: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for C1QBP Gene

Orthologs for C1QBP Gene

This gene was present in the common ancestor of animals.

Orthologs for C1QBP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C1QBP 30 31
  • 99.53 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia C1QBP 30 31
  • 84.48 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia C1qbp 30 17 31
  • 84.35 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia C1qbp 30
  • 83.75 (n)
Dog
(Canis familiaris)
Mammalia C1QBP 30 31
  • 82.35 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia C1QBP 31
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C1QBP 30 31
  • 74.88 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C1QBP 31
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia c1qbp 30
  • 74.67 (n)
Str.6517 30
African clawed frog
(Xenopus laevis)
Amphibia LOC398432 30
Zebrafish
(Danio rerio)
Actinopterygii c1qbp 30 31
  • 66.16 (n)
OneToOne
sbcb785 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8453 30
Fruit Fly
(Drosophila melanogaster)
Insecta P32 30 31
  • 49.46 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003987 30
  • 46.85 (n)
Worm
(Caenorhabditis elegans)
Secernentea cri-3 30 31
  • 42.65 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5581 31
  • 38 (a)
OneToOne
Species where no ortholog for C1QBP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for C1QBP Gene

ENSEMBL:
Gene Tree for C1QBP (if available)
TreeFam:
Gene Tree for C1QBP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for C1QBP: view image

Paralogs for C1QBP Gene

Pseudogenes.org Pseudogenes for C1QBP Gene

genes like me logo Genes that share paralogs with C1QBP: view

No data available for Paralogs for C1QBP Gene

Variants for C1QBP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C1QBP Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
711527 Benign: not provided 5,433,172(-) G/T INTRON_VARIANT
712205 Benign: not provided 5,438,945(-) G/A SYNONYMOUS_VARIANT
rs1394499137 Pathogenic: Combined oxidative phosphorylation deficiency 33 5,433,125(-) C/A MISSENSE_VARIANT
rs1555532483 Pathogenic: Combined oxidative phosphorylation deficiency 33. Combined oxidative phosphorylation deficiency 33 (COXPD33) [MIM:617713] 5,433,040(-) A/Gp.Leu275Pro MISSENSE_VARIANT
rs1555532484 Pathogenic: Combined oxidative phosphorylation deficiency 33. Combined oxidative phosphorylation deficiency 33 (COXPD33) [MIM:617713] 5,433,041(-) G/Ap.Leu275Phe MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for C1QBP Gene

Structural Variations from Database of Genomic Variants (DGV) for C1QBP Gene

Variant ID Type Subtype PubMed ID
esv2673035 CNV deletion 23128226
esv3639815 CNV loss 21293372
nsv574273 CNV gain 21841781

Variation tolerance for C1QBP Gene

Residual Variation Intolerance Score: 59.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.82; 34.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C1QBP Gene

Human Gene Mutation Database (HGMD)
C1QBP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C1QBP

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C1QBP Gene

Disorders for C1QBP Gene

MalaCards: The human disease database

(16) MalaCards diseases for C1QBP Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 33
  • coxpd33
rubella
  • german measles
brain malformations with or without urinary tract defects
  • brmutd
cryoglobulinemia
  • cryoimmunoglobulinaemia
congenital aphakia
  • aphakia, congenital primary
- elite association - COSMIC cancer census association via MalaCards
Search C1QBP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

C1QBP_HUMAN
  • Combined oxidative phosphorylation deficiency 33 (COXPD33) [MIM:617713]: An autosomal recessive disorder caused by multiple mitochondrial respiratory chain defects and impaired mitochondrial energy metabolism. Clinical manifestations are highly variable. Affected infants present with cardiomyopathy accompanied by multisystemic features involving liver, kidney, and brain. Death in infancy is observed in some patients. Children and adults present with myopathy and progressive external ophthalmoplegia. {ECO:0000269 PubMed:28942965}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for C1QBP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with C1QBP: view

No data available for Genatlas for C1QBP Gene

Publications for C1QBP Gene

  1. Molecular cloning of human fibroblast hyaluronic acid-binding protein confirms its identity with P-32, a protein co-purified with splicing factor SF2. Hyaluronic acid-binding protein as P-32 protein, co-purified with splicing factor SF2. (PMID: 8567680) Deb TB … Datta K (The Journal of biological chemistry 1996) 2 3 4 23
  2. Inhibition of RIG-I and MDA5-dependent antiviral response by gC1qR at mitochondria. (PMID: 19164550) Xu L … Gu J (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 23
  3. Evidence for inhibitory interaction of hyaluronan-binding protein 1 (HABP1/p32/gC1qR) with Streptococcus pneumoniae hyaluronidase. (PMID: 19004836) Yadav G … Datta K (The Journal of biological chemistry 2009) 3 4 23
  4. HCV core protein interaction with gC1q receptor inhibits Th1 differentiation of CD4+ T cells via suppression of dendritic cell IL-12 production. (PMID: 17881511) Waggoner SN … Hahn YS (Journal of leukocyte biology 2007) 3 4 23
  5. Chemotaxis of human monocyte-derived dendritic cells to complement component C1q is mediated by the receptors gC1qR and cC1qR. (PMID: 16140380) Vegh Z … Ghebrehiwet B (Molecular immunology 2006) 3 4 23

Products for C1QBP Gene

  • Addgene plasmids for C1QBP

Sources for C1QBP Gene