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

Gene ID: 708, updated on 4-Jan-2025

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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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
Compare labs

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

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables C5-methylcytidine-containing RNA reader activity PubMed 
enables adrenergic receptor binding  
enables complement component C1q complex binding  
enables complement component C1q complex binding PubMed 
enables deoxyribonuclease inhibitor activity PubMed 
enables enzyme inhibitor activity PubMed 
enables hyaluronic acid binding PubMed 
enables kininogen binding  
enables kininogen binding PubMed 
enables mRNA binding  
enables mitochondrial ribosome binding  
enables protein binding PubMed 
enables transcription corepressor activity  
enables transcription corepressor activity PubMed 
enables transcription factor binding PubMed 
Items 1 - 25 of 30
Process Evidence Code Pubs
involved_in DNA damage response  
involved_in RNA splicing  
involved_in apoptotic process  
involved_in complement activation, classical pathway  
involved_in cytosolic ribosome assembly  
involved_in cytosolic ribosome assembly PubMed 
involved_in immune response PubMed 
involved_in innate immune response  
involved_in mRNA processing  
involved_in mitochondrial RNA catabolic process PubMed 
involved_in negative regulation of MDA-5 signaling pathway PubMed 
involved_in negative regulation of RIG-I signaling pathway PubMed 
involved_in negative regulation of defense response to virus PubMed 
involved_in negative regulation of double-strand break repair via homologous recombination PubMed 
involved_in negative regulation of interleukin-12 production PubMed 
involved_in negative regulation of mRNA splicing, via spliceosome  
involved_in negative regulation of mRNA splicing, via spliceosome PubMed 
involved_in negative regulation of transcription by RNA polymerase II PubMed 
involved_in negative regulation of type II interferon production PubMed 
involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction PubMed 
involved_in positive regulation of apoptotic process PubMed 
involved_in positive regulation of cell adhesion PubMed 
involved_in positive regulation of dendritic cell chemotaxis PubMed 
involved_in positive regulation of mitochondrial translation  
involved_in positive regulation of neutrophil chemotaxis PubMed 
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction PubMed 
involved_in positive regulation of substrate adhesion-dependent cell spreading PubMed 
involved_in positive regulation of trophoblast cell migration PubMed 
involved_in regulation of complement activation  
involved_in regulation of complement activation PubMed 
Items 1 - 25 of 30
Component Evidence Code Pubs
is_active_in cell surface  
located_in cell surface PubMed 
located_in cytoplasm  
located_in cytosol PubMed 
located_in cytosol  
located_in extracellular region  
located_in membrane PubMed 
located_in mitochondrial matrix PubMed 
located_in mitochondrial matrix  
located_in mitochondrion PubMed 
located_in mitochondrion PubMed 
located_in nucleolus  
is_active_in nucleus  
located_in nucleus PubMed 
is_active_in plasma membrane  
located_in plasma membrane  
located_in plasma membrane  

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)
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