Atlas of Genetics and Cytogenetics in Oncology and Haematology


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C1QBP (complement component 1, q subcomponent binding protein)

Identity

Alias_namesHABP1
complement component 1
Alias_symbol (synonym)gC1Q-R
gC1qR
p32
SF2p32
Other aliasGC1QBP
HGNC (Hugo) C1QBP
LocusID (NCBI) 708
Atlas_Id 50394
Location 17p13.2  [Link to chromosome band 17p13]
Location_base_pair Starts at 5336099 and ends at 5342471 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
KDM5C (Xp11.22) / C1QBP (17p13.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)C1QBP   1243
Cards
Entrez_Gene (NCBI)C1QBP  708  complement component 1, q subcomponent binding protein
AliasesGC1QBP; HABP1; SF2p32; gC1Q-R; 
gC1qR; p32
GeneCards (Weizmann)C1QBP
Ensembl hg19 (Hinxton)ENSG00000108561 [Gene_View]  chr17:5336099-5342471 [Contig_View]  C1QBP [Vega]
Ensembl hg38 (Hinxton)ENSG00000108561 [Gene_View]  chr17:5336099-5342471 [Contig_View]  C1QBP [Vega]
ICGC DataPortalENSG00000108561
TCGA cBioPortalC1QBP
AceView (NCBI)C1QBP
Genatlas (Paris)C1QBP
WikiGenes708
SOURCE (Princeton)C1QBP
Genetics Home Reference (NIH)C1QBP
Genomic and cartography
GoldenPath hg19 (UCSC)C1QBP  -     chr17:5336099-5342471 -  17p13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)C1QBP  -     17p13.2   [Description]    (hg38-Dec_2013)
EnsemblC1QBP - 17p13.2 [CytoView hg19]  C1QBP - 17p13.2 [CytoView hg38]
Mapping of homologs : NCBIC1QBP [Mapview hg19]  C1QBP [Mapview hg38]
OMIM601269   
Gene and transcription
Genbank (Entrez)AF275902 AJ297362 AK291516 BC000435 BC013731
RefSeq transcript (Entrez)NM_001212
RefSeq genomic (Entrez)NC_000017 NC_018928 NT_010718 NW_004929405
Consensus coding sequences : CCDS (NCBI)C1QBP
Cluster EST : UnigeneHs.555866 [ NCBI ]
CGAP (NCI)Hs.555866
Alternative Splicing GalleryENSG00000108561
Gene ExpressionC1QBP [ NCBI-GEO ]   C1QBP [ EBI - ARRAY_EXPRESS ]   C1QBP [ SEEK ]   C1QBP [ MEM ]
Gene Expression Viewer (FireBrowse)C1QBP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)708
GTEX Portal (Tissue expression)C1QBP
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ07021   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ07021  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ07021
Splice isoforms : SwissVarQ07021
PhosPhoSitePlusQ07021
Domains : Interpro (EBI)MAM33   
Domain families : Pfam (Sanger)MAM33 (PF02330)   
Domain families : Pfam (NCBI)pfam02330   
Conserved Domain (NCBI)C1QBP
DMDM Disease mutations708
Blocks (Seattle)C1QBP
PDB (SRS)1P32    3RPX   
PDB (PDBSum)1P32    3RPX   
PDB (IMB)1P32    3RPX   
PDB (RSDB)1P32    3RPX   
Structural Biology KnowledgeBase1P32    3RPX   
SCOP (Structural Classification of Proteins)1P32    3RPX   
CATH (Classification of proteins structures)1P32    3RPX   
SuperfamilyQ07021
Human Protein AtlasENSG00000108561
Peptide AtlasQ07021
HPRD03168
IPIIPI00014230   IPI00816622   
Protein Interaction databases
DIP (DOE-UCLA)Q07021
IntAct (EBI)Q07021
FunCoupENSG00000108561
BioGRIDC1QBP
STRING (EMBL)C1QBP
ZODIACC1QBP
Ontologies - Pathways
QuickGOQ07021
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  complement component C1q binding  transcription corepressor activity  mRNA binding  protein kinase C binding  protein binding  hyaluronic acid binding  extracellular space  nucleus  nucleolus  cytoplasm  mitochondrion  mitochondrial matrix  cytosol  plasma membrane  transcription, DNA-templated  mRNA processing  apoptotic process  immune response  complement activation, classical pathway  blood coagulation, intrinsic pathway  transcription factor binding  RNA splicing  cell surface  phosphatidylinositol 3-kinase signaling  membrane  viral process  regulation of complement activation  kininogen binding  adrenergic receptor binding  negative regulation of interferon-gamma production  negative regulation of interleukin-12 production  negative regulation of MDA-5 signaling pathway  negative regulation of RIG-I signaling pathway  mature ribosome assembly  positive regulation of apoptotic process  innate immune response  positive regulation of cell adhesion  negative regulation of mRNA splicing, via spliceosome  negative regulation of defense response to virus  positive regulation of protein kinase B signaling  positive regulation of mitochondrial translation  positive regulation of neutrophil chemotaxis  mitochondrial ribosome binding  positive regulation of substrate adhesion-dependent cell spreading  positive regulation of trophoblast cell migration  positive regulation of dendritic cell chemotaxis  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  complement component C1q binding  transcription corepressor activity  mRNA binding  protein kinase C binding  protein binding  hyaluronic acid binding  extracellular space  nucleus  nucleolus  cytoplasm  mitochondrion  mitochondrial matrix  cytosol  plasma membrane  transcription, DNA-templated  mRNA processing  apoptotic process  immune response  complement activation, classical pathway  blood coagulation, intrinsic pathway  transcription factor binding  RNA splicing  cell surface  phosphatidylinositol 3-kinase signaling  membrane  viral process  regulation of complement activation  kininogen binding  adrenergic receptor binding  negative regulation of interferon-gamma production  negative regulation of interleukin-12 production  negative regulation of MDA-5 signaling pathway  negative regulation of RIG-I signaling pathway  mature ribosome assembly  positive regulation of apoptotic process  innate immune response  positive regulation of cell adhesion  negative regulation of mRNA splicing, via spliceosome  negative regulation of defense response to virus  positive regulation of protein kinase B signaling  positive regulation of mitochondrial translation  positive regulation of neutrophil chemotaxis  mitochondrial ribosome binding  positive regulation of substrate adhesion-dependent cell spreading  positive regulation of trophoblast cell migration  positive regulation of dendritic cell chemotaxis  
Pathways : KEGGHerpes simplex infection   
NDEx NetworkC1QBP
Atlas of Cancer Signalling NetworkC1QBP
Wikipedia pathwaysC1QBP
Orthology - Evolution
OrthoDB708
GeneTree (enSembl)ENSG00000108561
Phylogenetic Trees/Animal Genes : TreeFamC1QBP
HOVERGENQ07021
HOGENOMQ07021
Homologs : HomoloGeneC1QBP
Homology/Alignments : Family Browser (UCSC)C1QBP
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC1QBP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C1QBP
dbVarC1QBP
ClinVarC1QBP
1000_GenomesC1QBP 
Exome Variant ServerC1QBP
ExAC (Exome Aggregation Consortium)C1QBP (select the gene name)
Genetic variants : HAPMAP708
Genomic Variants (DGV)C1QBP [DGVbeta]
DECIPHER (Syndromes)17:5336099-5342471  ENSG00000108561
CONAN: Copy Number AnalysisC1QBP 
Mutations
ICGC Data PortalC1QBP 
TCGA Data PortalC1QBP 
Broad Tumor PortalC1QBP
OASIS PortalC1QBP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC1QBP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC1QBP
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch C1QBP
DgiDB (Drug Gene Interaction Database)C1QBP
DoCM (Curated mutations)C1QBP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C1QBP (select a term)
intoGenC1QBP
Cancer3DC1QBP(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601269   
Orphanet
MedgenC1QBP
Genetic Testing Registry C1QBP
NextProtQ07021 [Medical]
TSGene708
GENETestsC1QBP
Huge Navigator C1QBP [HugePedia]
snp3D : Map Gene to Disease708
BioCentury BCIQC1QBP
ClinGenC1QBP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD708
Chemical/Pharm GKB GenePA25624
Clinical trialC1QBP
Miscellaneous
canSAR (ICR)C1QBP (select the gene name)
Probes
Litterature
PubMed174 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC1QBP
EVEXC1QBP
GoPubMedC1QBP
iHOPC1QBP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 12:58:07 CET 2017

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