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 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr17:5,336,099-5,342,471)mRNA (may differ from genome)Protein (282 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
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="";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): C1QBP
CDC HuGE Published Literature: C1QBP

-  MalaCards Disease Associations
  MalaCards Gene Search: C1QBP
Diseases sorted by gene-association score: rubella (12), chromosome 1p32-p31 deletion syndrome (3), hiv-1 (2), muscular dystrophy, congenital, 1b (2), multilocular clear cell renal cell carcinoma (2), dilated cardiomyopathy 1b (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 142.50 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 1784.98 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -28.3078-0.363 Picture PostScript Text
3' UTR -48.53236-0.206 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003428 - MAM33

Pfam Domains:
PF02330 - Mitochondrial glycoprotein

SCOP Domains:
54529 - Acidic mitochondrial matrix protein p32

Protein Data Bank (PDB) 3-D Structure
MuPIT help

- X-ray

- X-ray MuPIT

ModBase Predicted Comparative 3D Structure on Q07021
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 Protein SequenceProtein SequenceProtein SequenceProtein Sequence 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001849 complement component C1q binding
GO:0003714 transcription corepressor activity
GO:0003729 mRNA binding
GO:0005080 protein kinase C binding
GO:0005515 protein binding
GO:0005540 hyaluronic acid binding
GO:0008134 transcription factor binding
GO:0030984 kininogen binding
GO:0031690 adrenergic receptor binding
GO:0097177 mitochondrial ribosome binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0002250 adaptive immune response
GO:0002376 immune system process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006397 mRNA processing
GO:0006915 apoptotic process
GO:0006955 immune response
GO:0006958 complement activation, classical pathway
GO:0007597 blood coagulation, intrinsic pathway
GO:0008380 RNA splicing
GO:0014065 phosphatidylinositol 3-kinase signaling
GO:0016032 viral process
GO:0030449 regulation of complement activation
GO:0032689 negative regulation of interferon-gamma production
GO:0032695 negative regulation of interleukin-12 production
GO:0039534 negative regulation of MDA-5 signaling pathway
GO:0039536 negative regulation of RIG-I signaling pathway
GO:0042254 ribosome biogenesis
GO:0042256 mature ribosome assembly
GO:0043065 positive regulation of apoptotic process
GO:0045087 innate immune response
GO:0045785 positive regulation of cell adhesion
GO:0048025 negative regulation of mRNA splicing, via spliceosome
GO:0050687 negative regulation of defense response to virus
GO:0051897 positive regulation of protein kinase B signaling
GO:0070131 positive regulation of mitochondrial translation
GO:0090023 positive regulation of neutrophil chemotaxis
GO:1900026 positive regulation of substrate adhesion-dependent cell spreading
GO:1901165 positive regulation of trophoblast cell migration
GO:2000510 positive regulation of dendritic cell chemotaxis

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0016020 membrane

-  Descriptions from all associated GenBank mRNAs
  LF209177 - JP 2014500723-A/16680: Polycomb-Associated Non-Coding RNAs.
LF209178 - JP 2014500723-A/16681: Polycomb-Associated Non-Coding RNAs.
BC013731 - Homo sapiens complement component 1, q subcomponent binding protein, mRNA (cDNA clone MGC:9242 IMAGE:3862881), complete cds.
AK291516 - Homo sapiens cDNA FLJ75700 complete cds, highly similar to Homo sapiens complement component 1, q subcomponent binding protein (C1QBP), nuclear gene encoding mitochondrial protein, mRNA.
AF275902 - Homo sapiens hyaluronan-binding protein precursor (HABP1) mRNA, partial cds.
HH837087 - Sequence 14 from Patent EP2231168.
HI214728 - Sequence 14 from Patent EP2076526.
HV601530 - JP 2011500003-A/14: Novel siRNA Structures.
HV856603 - JP 2010507387-A/14: Novel siRNAs and Methods of Use Thereof.
HW165090 - JP 2013102767-A/14: Novel siRNA's and Use Thereof.
HW675598 - JP 2014210789-A/14: Novel siRNA Structures.
HW835286 - JP 2015051004-A/14: Novel siRNA's and Use Thereof.
JA482096 - Sequence 79 from Patent WO2011072091.
JA538129 - Sequence 14 from Patent EP2371958.
JB251949 - Sequence 16 from Patent EP2440214.
JE980388 - Sequence 79 from Patent EP2862929.
L04636 - Homo sapiens pre-mRNA splicing factor 2 p32 subunit (SF2p32) mRNA, complete cds.
LP764848 - Sequence 16 from Patent EP3276004.
M69039 - Human pre-mRNA splicing factor SF2p32, complete sequence.
BC000435 - Homo sapiens complement component 1, q subcomponent binding protein, mRNA (cDNA clone MGC:8368 IMAGE:2820039), complete cds.
LF326585 - JP 2014500723-A/134088: Polycomb-Associated Non-Coding RNAs.
X75913 - H.sapiens mRNA for gCIq-R.
JD449506 - Sequence 430530 from Patent EP1572962.
JD295657 - Sequence 276681 from Patent EP1572962.
BT019898 - Homo sapiens complement component 1, q subcomponent binding protein mRNA, complete cds.
BT019899 - Homo sapiens complement component 1, q subcomponent binding protein mRNA, complete cds.
DQ891331 - Synthetic construct clone IMAGE:100003961; FLH171149.01X; RZPDo839F08100D complement component 1, q subcomponent binding protein (C1QBP) gene, encodes complete protein.
DQ893366 - Synthetic construct clone IMAGE:100005996; FLH196637.01X; RZPDo839F01156D complement component 1, q subcomponent binding protein (C1QBP) gene, encodes complete protein.
KJ896515 - Synthetic construct Homo sapiens clone ccsbBroadEn_05909 C1QBP gene, encodes complete protein.
DQ894514 - Synthetic construct Homo sapiens clone IMAGE:100008974; FLH171145.01L; RZPDo839F0899D complement component 1, q subcomponent binding protein (C1QBP) gene, encodes complete protein.
DQ896683 - Synthetic construct Homo sapiens clone IMAGE:100011143; FLH196633.01L; RZPDo839F01155D complement component 1, q subcomponent binding protein (C1QBP) gene, encodes complete protein.
AB590234 - Synthetic construct DNA, clone: pFN21AE1430, Homo sapiens C1QBP gene for complement component 1, q subcomponent binding protein, without stop codon, in Flexi system.
LF326586 - JP 2014500723-A/134089: Polycomb-Associated Non-Coding RNAs.
CU680662 - Synthetic construct Homo sapiens gateway clone IMAGE:100023270 5' read C1QBP mRNA.
LF326587 - JP 2014500723-A/134090: Polycomb-Associated Non-Coding RNAs.
LF326590 - JP 2014500723-A/134093: Polycomb-Associated Non-Coding RNAs.
AJ297362 - Homo sapiens partial mRNA for hypothetical protein (ORF1), RZPD clone MPMGp800F10260Q003.
JD460976 - Sequence 442000 from Patent EP1572962.
MA562162 - JP 2018138019-A/134088: Polycomb-Associated Non-Coding RNAs.
MA562163 - JP 2018138019-A/134089: Polycomb-Associated Non-Coding RNAs.
MA562164 - JP 2018138019-A/134090: Polycomb-Associated Non-Coding RNAs.
MA562167 - JP 2018138019-A/134093: Polycomb-Associated Non-Coding RNAs.
MA444754 - JP 2018138019-A/16680: Polycomb-Associated Non-Coding RNAs.
MA444755 - JP 2018138019-A/16681: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q07021 (Reactome details) participates in the following event(s):

R-HSA-158354 kininogen + C1q binding protein tetramer -> kininogen:C1q binding protein tetramer
R-HSA-158218 prekallikrein + kininogen:C1q binding protein tetramer -> prekallikrein:kininogen:C1q binding protein tetramer
R-HSA-158311 kallikrein:kininogen:C1q binding protein tetramer -> kallikrein + activated kininogen:C1q binding protein tetramer + bradykinin
R-HSA-158251 prekallikrein:kininogen:C1q binding protein tetramer -> kallikrein:kininogen:C1q binding protein tetramer
R-HSA-158313 factor XII -> factor XIIa
R-HSA-140837 Intrinsic Pathway of Fibrin Clot Formation
R-HSA-140877 Formation of Fibrin Clot (Clotting Cascade)
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: C1QBP_HUMAN, GC1QBP, HABP1, NM_001212, NP_001203, Q07021, Q2HXR8, Q9NNY8, SF2P32
UCSC ID: uc002gby.1
RefSeq Accession: NM_001212
Protein: Q07021 (aka C1QBP_HUMAN)
CCDS: CCDS11071.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_001212.3
exon count: 6CDS single in 3' UTR: no RNA size: 1163
ORF size: 849CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1895.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.