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Aliases for C1QBP Gene

Aliases for C1QBP Gene

  • Complement Component 1, Q Subcomponent Binding Protein 2 3 5
  • Hyaluronan-Binding Protein 1 2 3 4
  • 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
  • SF2p32 3 4
  • GC1QBP 3 4
  • HABP1 3 4
  • P33 3 4
  • GC1q-R Protein 4
  • GC1Q-R 3
  • GC1qR 3
  • C1qBP 4
  • P32 3

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 Component 1, Q Subcomponent Binding Protein) is a Protein Coding gene. Diseases associated with C1QBP include Rubella and Chromosome 1P32-P31 Deletion Syndrome. Among its related pathways are Formation of Fibrin Clot (Clotting Cascade) and Glucose / Energy Metabolism. GO annotations related to this gene include transcription factor binding and mRNA binding.

UniProtKB/Swiss-Prot for C1QBP Gene

  • Is believed to be a multifunctional and multicompartmental protein involved in inflammation and infection processes, ribosome biogenesis, 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. 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. In infection processes acts as an attachment site for microbial proteins, including Listeria monocytogenes internalin B and Staphylococcus aureus protein A. May play a role in antibacterial defense as it can bind to cell surface hyaluronan and inhibit Streptococcus pneumoniae hyaluronate lyase. Involved in replication of Rubella virus. May be involved in modulation of the immune response; ligation by HCV core protein is resulting in suppresion 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. Involved in HIV-1 replication, presumably by contributing to splicing of viral RNA.

Gene Wiki entry for C1QBP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C1QBP Gene

Genomics for C1QBP Gene

Regulatory Elements for C1QBP Gene

Enhancers for C1QBP Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around C1QBP on UCSC Golden Path with GeneCards custom track

Genomic Location for C1QBP Gene

Chromosome:
17
Start:
5,432,777 bp from pter
End:
5,448,830 bp from pter
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 Rubella virus capsid protein; the interaction occurs in mitochondria. Interacts with Rubella virus protease p150, Staphylococcus aureus protein A/spa, HIV-1 Tat and HCV core protein. Interacts with U2AF1L4.

    Three dimensional structures from OCA and Proteopedia for C1QBP Gene

neXtProt entry for C1QBP Gene

Proteomics data for C1QBP Gene at MOPED

Post-translational modifications for C1QBP Gene

  • Ubiquitination at Lys 104
  • Modification sites at PhosphoSitePlus

Other Protein References for C1QBP Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for C1QBP (C1QBP)

No data available for DME Specific Peptides for C1QBP Gene

Domains & Families for C1QBP Gene

Protein Domains for C1QBP Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for C1QBP Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for C1QBP Gene

Function for C1QBP Gene

Molecular function for C1QBP Gene

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@
UniProtKB/Swiss-Prot Function:
Is believed to be a multifunctional and multicompartmental protein involved in inflammation and infection processes, ribosome biogenesis, 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. 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. In infection processes acts as an attachment site for microbial proteins, including Listeria monocytogenes internalin B and Staphylococcus aureus protein A. May play a role in antibacterial defense as it can bind to cell surface hyaluronan and inhibit Streptococcus pneumoniae hyaluronate lyase. Involved in replication of Rubella virus. May be involved in modulation of the immune response; ligation by HCV core protein is resulting in suppresion 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. Involved in HIV-1 replication, presumably by contributing to splicing of viral RNA.
UniProtKB/Swiss-Prot Induction:
Enhanced cell surface expression upon platelet and monocyte activation.

Gene Ontology (GO) - Molecular Function for C1QBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003729 mRNA binding ISS --
GO:0005080 protein kinase C binding IEA --
genes like me logo Genes that share ontologies with C1QBP: view
genes like me logo Genes that share phenotypes with C1QBP: view

Animal Models for C1QBP Gene

MGI Knock Outs for C1QBP:

Animal Model Products

  • Taconic Biosciences Mouse Models for C1QBP

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Jensen Localization Image for C1QBP Gene COMPARTMENTS Subcellular localization image for C1QBP gene
Compartment Confidence
cytosol 5
extracellular 5
mitochondrion 5
nucleus 5
plasma membrane 5
vacuole 1

Gene Ontology (GO) - Cellular Components for C1QBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 11083468
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 Cell Signaling Technology pathways for C1QBP Gene
1 KEGG pathway for C1QBP Gene
1 Qiagen pathway for C1QBP Gene

Gene Ontology (GO) - Biological Process for C1QBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 15243141
GO:0006397 mRNA processing IEA --
GO:0006955 immune response TAS 8195709
GO:0006958 complement activation, classical pathway IEA --
GO:0007597 blood coagulation, intrinsic pathway TAS --
genes like me logo Genes that share ontologies with C1QBP: view

No data available for SIGNOR curated interactions for C1QBP Gene

Drugs & Compounds for C1QBP Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hyaluronan Approved Pharma Target, binder 411

(7) 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

Unigene Clusters for C1QBP Gene

Complement component 1, q subcomponent binding protein:
Representative Sequences:

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
ECgene alternative splicing isoforms for
C1QBP

Expression for C1QBP Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for C1QBP Gene



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.
genes like me logo Genes that share expression patterns with C1QBP: view

Protein tissue co-expression partners for C1QBP Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia C1QBP 35
  • 84.48 (n)
  • 85.92 (a)
C1QBP 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C1QBP 35
  • 82.35 (n)
  • 87.87 (a)
C1QBP 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia C1qbp 35
  • 84.35 (n)
  • 86.38 (a)
C1qbp 16
C1qbp 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C1QBP 35
  • 99.53 (n)
  • 99.65 (a)
C1QBP 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia C1qbp 35
  • 83.75 (n)
  • 86.74 (a)
oppossum
(Monodelphis domestica)
Mammalia C1QBP 36
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1QBP 35
  • 74.88 (n)
  • 83.25 (a)
C1QBP 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C1QBP 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c1qbp 35
  • 74.67 (n)
  • 81.86 (a)
Str.6517 35
African clawed frog
(Xenopus laevis)
Amphibia LOC398432 35
zebrafish
(Danio rerio)
Actinopterygii c1qbp 35
  • 66.16 (n)
  • 66.54 (a)
sbcb785 35
c1qbp 36
  • 61 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8453 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003987 35
  • 46.85 (n)
  • 33.07 (a)
fruit fly
(Drosophila melanogaster)
Insecta P32 35
  • 49.46 (n)
  • 37.1 (a)
P32 36
  • 32 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea cri-3 35
  • 42.65 (n)
  • 29.81 (a)
cri-3 36
  • 27 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5581 36
  • 38 (a)
OneToOne
Species with no ortholog for C1QBP:
  • A. gosspyii yeast (Ashbya 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 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)

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 from dbSNP and Humsavar for C1QBP Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs980406 -- 5,435,463(+) GGAGG(C/G)TGCCT intron-variant
rs980407 -- 5,435,498(+) GGAAC(C/G)GGGAA intron-variant
rs980408 -- 5,435,670(+) AATTC(C/T)TGGGA intron-variant
rs1805429 -- 5,438,554(+) AACTA(C/T)GCTAT intron-variant
rs1805435 -- 5,438,429(+) ATACC(A/G)TAATA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2673035 CNV Deletion 23128226

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for C1QBP Gene

Disorders for C1QBP Gene

MalaCards: The human disease database

(6) MalaCards diseases for C1QBP Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
rubella
  • german measles
chromosome 1p32-p31 deletion syndrome
  • 1p31p32 microdeletion syndrome
hiv-1
  • aids, slow progression to
multilocular clear cell renal cell carcinoma
  • cystadenocarcinoma of kidney
progesterone-receptor positive breast cancer
- elite association - COSMIC cancer census association via MalaCards
Search C1QBP in MalaCards View complete list of genes associated with diseases

Relevant External Links for C1QBP

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

No data available for UniProtKB/Swiss-Prot and 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 T.B. … Datta K. (J. Biol. Chem. 1996) 2 3 4 23 67
  2. Evidence for inhibitory interaction of hyaluronan-binding protein 1 (HABP1/p32/gC1qR) with Streptococcus pneumoniae hyaluronidase. (PMID: 19004836) Yadav G. … Datta K. (J. Biol. Chem. 2009) 3 23 25
  3. Inhibition of RIG-I and MDA5-dependent antiviral response by gC1qR at mitochondria. (PMID: 19164550) Xu L. … Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 23
  4. Frequency of gC1qR+CD4+ T cells increases during acute hepatitis C virus infection and remains elevated in patients with chronic infection. (PMID: 19473882) Cummings K.L. … Hahn Y.S. (Clin. Immunol. 2009) 3 23
  5. Increased expression of hyaluronic acid binding protein 1 is correlated with poor prognosis in patients with breast cancer. (PMID: 19565630) Chen Y.B. … Pang D. (J Surg Oncol 2009) 3 23

Products for C1QBP Gene

Sources for C1QBP Gene

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