Human Gene C1QBP (uc002gby.1) Description and Page Index
Description: Homo sapiens complement component 1, q subcomponent binding protein (C1QBP), nuclear gene encoding mitochondrial protein, mRNA. RefSeq Summary (NM_001212): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.675649.1, SRR1163655.239161.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03267753, SAMN03267760 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000225698.8/ ENSP00000225698.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr17:5,336,099-5,342,471 Size: 6,373 Total Exon Count: 6 Strand: - Coding Region Position: hg19 chr17:5,336,335-5,342,393 Size: 6,059 Coding Exon Count: 6
ID:C1QBP_HUMAN DESCRIPTION: RecName: Full=Complement component 1 Q subcomponent-binding protein, mitochondrial; AltName: Full=GC1q-R protein; AltName: Full=Glycoprotein gC1qBP; Short=C1qBP; AltName: Full=Hyaluronan-binding protein 1; AltName: Full=Mitochondrial matrix protein p32; AltName: Full=p33; Flags: Precursor; FUNCTION: Binds to the globular "heads" of C1Q thus inhibiting C1 activation. SUBUNIT: Interacts with Rubella virus capsid protein. Interacts with HIV-1 Tat. Interacts with CDK13. Interacts with HRK. SUBCELLULAR LOCATION: Mitochondrion matrix. Nucleus. Note=Might also be nuclear in some cell types. SIMILARITY: Belongs to the MAM33 family. CAUTION: Was originally (PubMed:1830244 and PubMed:8262387) thought to be a pre-mRNA splicing factor SF2 p32 subunit and to play a role in preventing exon skipping, ensuring the accuracy of splicing and regulating alternative splicing. WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/c1qbp/";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): C1QBP CDC HuGE Published Literature: C1QBP
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q07021
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.