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C1QBP complement C1q binding protein [ Homo sapiens (human) ]

Gene ID: 708, updated on 27-Nov-2024

Summary

Official Symbol
C1QBPprovided by HGNC
Official Full Name
complement C1q binding proteinprovided by HGNC
Primary source
HGNC:HGNC:1243
See related
Ensembl:ENSG00000108561 MIM:601269; AllianceGenome:HGNC:1243
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
p32; HABP1; gC1qR; GC1QBP; SF2p32; gC1Q-R; COXPD33; SF2AP32
Summary
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]
Expression
Ubiquitous expression in colon (RPKM 56.9), kidney (RPKM 48.1) and 25 other tissues See more
Orthologs
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Genomic context

See C1QBP in Genome Data Viewer
Location:
17p13.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (5432777..5439155, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (5326513..5332892, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (5336097..5342475, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene rabaptin, RAB GTPase binding effector protein 1 Neighboring gene uncharacterized LOC105371505 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:5265177-5265872 Neighboring gene nucleoporin 88 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:5316624-5317823 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:5322619-5323156 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:5323157-5323694 Neighboring gene RPA interacting protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8069 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8070 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:5342450-5342632 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11573 Neighboring gene DEAH-box helicase 33 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:5371354-5371936 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11575 Neighboring gene DHX33 divergent transcript

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Combined oxidative phosphorylation deficiency 33
MedGen: C4540209 OMIM: 617713 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
EBI GWAS Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of C1q globular domain-binding protein in umbilical cord blood mononuclear cells PubMed
Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 S3 motif engages gC1qR on CD4+ T cells to induce the expression of an NK ligand (NKp44L) through the PIP3/H2O2 pathway PubMed
Rev rev Human p32 protein relieves a post-transcriptional block to HIV-1 replication in murine cells by restoring HIV-1 Rev function PubMed
rev Rev binding to p32 is associated with the function of Rev in inhibiting the splicing of HIV-1 mRNA by splicing factors ASF/SF2 PubMed
rev Rev bridges the association of p32 with RRE RNA PubMed
rev p32 binds to the basic domain of HIV-1 Rev (amino acids 35-50) PubMed
Tat tat Splicing factor SF2-associated protein p32 preferentially binds acetylated HIV-1 Tat and co-localizes with Tat in HIV-1 infected cells PubMed
tat Using a yeast two-hybrid system, the splicing factor SF2-associated protein p32 has been shown to bind to the basic domain of HIV-1 Tat (amino acids 47-59), suggesting a role for p32 in mediating the biological activity of Tat during HIV-1 replication PubMed
Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of complement component 1, q subcomponent binding protein (C1QBP) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables C5-methylcytidine-containing RNA reader activity IDA
Inferred from Direct Assay
more info
PubMed 
enables adrenergic receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables complement component C1q complex binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables complement component C1q complex binding IDA
Inferred from Direct Assay
more info
PubMed 
enables deoxyribonuclease inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables enzyme inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables hyaluronic acid binding IDA
Inferred from Direct Assay
more info
PubMed 
enables kininogen binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables kininogen binding IDA
Inferred from Direct Assay
more info
PubMed 
enables mRNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables mitochondrial ribosome binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transcription corepressor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables transcription corepressor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables transcription factor binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in DNA damage response IEA
Inferred from Electronic Annotation
more info
 
involved_in RNA splicing IEA
Inferred from Electronic Annotation
more info
 
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in complement activation, classical pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in cytosolic ribosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cytosolic ribosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in immune response TAS
Traceable Author Statement
more info
PubMed 
involved_in innate immune response IEA
Inferred from Electronic Annotation
more info
 
involved_in mRNA processing IEA
Inferred from Electronic Annotation
more info
 
involved_in mitochondrial RNA catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of MDA-5 signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of RIG-I signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of defense response to virus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of double-strand break repair via homologous recombination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of interleukin-12 production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in negative regulation of mRNA splicing, via spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of type II interferon production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of dendritic cell chemotaxis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of mitochondrial translation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of neutrophil chemotaxis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of substrate adhesion-dependent cell spreading IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of trophoblast cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of complement activation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in regulation of complement activation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
is_active_in cell surface IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cell surface IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 
located_in mitochondrion HTP PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleolus IEA
Inferred from Electronic Annotation
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
complement component 1 Q subcomponent-binding protein, mitochondrial
Names
ASF/SF2-associated protein p32
C1q globular domain-binding protein
complement component 1, q subcomponent binding protein
glycoprotein gC1qBP
hyaluronan-binding protein 1
mitochondrial matrix protein p32
p33
splicing factor SF2-associated 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_001212.4NP_001203.1  complement component 1 Q subcomponent-binding protein, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001203.1

    Status: REVIEWED

    Source sequence(s)
    AC004148, L04636
    Consensus CDS
    CCDS11071.1
    UniProtKB/Swiss-Prot
    Q07021, Q2HXR8, Q9NNY8
    UniProtKB/TrEMBL
    A8K651
    Related
    ENSP00000225698.4, ENST00000225698.8
    Conserved Domains (1) summary
    pfam02330
    Location:89273
    MAM33; Mitochondrial glycoprotein

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
    5432777..5439155 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    5326513..5332892 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)