Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	708
Gene name Gene Name - the full gene name approved by the HGNC.	Complement C1q binding protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	C1QBP
Synonyms (NCBI Gene) Gene synonyms aliases	COXPD33, GC1QBP, HABP1, SF2AP32, SF2p32, gC1Q-R, gC1qR, p32
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17p13.2
Summary Summary of gene provided in NCBI Entrez Gene.	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. Thi

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SNP ID	Visualize variation	Clinical significance	Consequence
rs748497469	C>G	Pathogenic	Coding sequence variant, missense variant
rs755568057	AAT>-	Pathogenic	Coding sequence variant, inframe deletion

Show/Hide all(71)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001752	hsa-miR-375	Microarray	20215506
MIRT001752	hsa-miR-375	Reporter assay	15806104
MIRT049921	hsa-miR-30a-3p	CLASH	23622248
MIRT048001	hsa-miR-30c-5p	CLASH	23622248
MIRT046146	hsa-miR-30b-5p	CLASH	23622248
MIRT044216	hsa-miR-301a-3p	CLASH	23622248
MIRT043977	hsa-miR-378a-5p	CLASH	23622248
MIRT041959	hsa-miR-484	CLASH	23622248
MIRT038789	hsa-miR-93-3p	CLASH	23622248
MIRT728117	hsa-miR-193a-3p	HITS-CLIP	22473208
MIRT728116	hsa-miR-193b-3p	HITS-CLIP	22473208
MIRT842141	hsa-miR-1265	CLIP-seq
MIRT842142	hsa-miR-193b	CLIP-seq
MIRT842143	hsa-miR-2392	CLIP-seq
MIRT842144	hsa-miR-3145-3p	CLIP-seq
MIRT842145	hsa-miR-3159	CLIP-seq
MIRT842146	hsa-miR-330-3p	CLIP-seq
MIRT842147	hsa-miR-361-3p	CLIP-seq
MIRT842148	hsa-miR-3679-3p	CLIP-seq
MIRT842149	hsa-miR-3682-3p	CLIP-seq
MIRT842150	hsa-miR-3926	CLIP-seq
MIRT842151	hsa-miR-4420	CLIP-seq
MIRT842152	hsa-miR-4446-5p	CLIP-seq
MIRT842153	hsa-miR-4659a-5p	CLIP-seq
MIRT842154	hsa-miR-4659b-5p	CLIP-seq
MIRT842155	hsa-miR-4722-3p	CLIP-seq
MIRT842156	hsa-miR-4738-3p	CLIP-seq
MIRT842157	hsa-miR-4763-5p	CLIP-seq
MIRT842158	hsa-miR-4769-3p	CLIP-seq
MIRT842159	hsa-miR-548s	CLIP-seq
MIRT842160	hsa-miR-596	CLIP-seq
MIRT842161	hsa-miR-607	CLIP-seq
MIRT842162	hsa-miR-651	CLIP-seq
MIRT842163	hsa-miR-759	CLIP-seq
MIRT842141	hsa-miR-1265	CLIP-seq
MIRT842142	hsa-miR-193b	CLIP-seq
MIRT842143	hsa-miR-2392	CLIP-seq
MIRT842149	hsa-miR-3682-3p	CLIP-seq
MIRT842150	hsa-miR-3926	CLIP-seq
MIRT842151	hsa-miR-4420	CLIP-seq
MIRT842153	hsa-miR-4659a-5p	CLIP-seq
MIRT842154	hsa-miR-4659b-5p	CLIP-seq
MIRT842155	hsa-miR-4722-3p	CLIP-seq
MIRT842156	hsa-miR-4738-3p	CLIP-seq
MIRT842157	hsa-miR-4763-5p	CLIP-seq
MIRT842158	hsa-miR-4769-3p	CLIP-seq
MIRT842159	hsa-miR-548s	CLIP-seq
MIRT842160	hsa-miR-596	CLIP-seq
MIRT842162	hsa-miR-651	CLIP-seq
MIRT842142	hsa-miR-193b	CLIP-seq
MIRT842145	hsa-miR-3159	CLIP-seq
MIRT842146	hsa-miR-330-3p	CLIP-seq
MIRT842150	hsa-miR-3926	CLIP-seq
MIRT842151	hsa-miR-4420	CLIP-seq
MIRT842153	hsa-miR-4659a-5p	CLIP-seq
MIRT842154	hsa-miR-4659b-5p	CLIP-seq
MIRT842155	hsa-miR-4722-3p	CLIP-seq
MIRT842156	hsa-miR-4738-3p	CLIP-seq
MIRT842157	hsa-miR-4763-5p	CLIP-seq
MIRT842158	hsa-miR-4769-3p	CLIP-seq
MIRT842159	hsa-miR-548s	CLIP-seq
MIRT842160	hsa-miR-596	CLIP-seq
MIRT842161	hsa-miR-607	CLIP-seq
MIRT842163	hsa-miR-759	CLIP-seq
MIRT2385125	hsa-miR-135a	CLIP-seq
MIRT2385126	hsa-miR-135b	CLIP-seq
MIRT842142	hsa-miR-193b	CLIP-seq
MIRT2385127	hsa-miR-3119	CLIP-seq
MIRT2385128	hsa-miR-4291	CLIP-seq
MIRT842151	hsa-miR-4420	CLIP-seq
MIRT842156	hsa-miR-4738-3p	CLIP-seq

Transcription factors

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Transcription factor	Regulation	Reference
SP1	Unknown	11278463

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	15243141
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	29670289, 30612738
GO:0000957	Process	Mitochondrial RNA catabolic process	IDA	19509288
GO:0000957	Process	Mitochondrial RNA catabolic process	IDA	39019044
GO:0001849	Function	Complement component C1q complex binding	IBA
GO:0001849	Function	Complement component C1q complex binding	IDA	8195709
GO:0001849	Function	Complement component C1q complex binding	IEA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0003714	Function	Transcription corepressor activity	IBA
GO:0003714	Function	Transcription corepressor activity	IDA	15243141
GO:0003729	Function	MRNA binding	ISS
GO:0004857	Function	Enzyme inhibitor activity	IDA	31353207
GO:0005080	Function	Protein kinase C binding	IEA
GO:0005515	Function	Protein binding	IPI	8710908, 8900153, 10831594, 11086025, 12034482, 15031724, 16721827, 17486078, 18191643, 18676636, 19164550, 21653829, 22118625, 22238231, 23986595, 24955142, 25497084, 25852190, 26184334, 26816005, 27499296, 28018340, 28514442, 28565870, 31980649, 32296183, 32958672, 33961781, 34804
GO:0005540	Function	Hyaluronic acid binding	IDA	8567680
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	15243141
GO:0005634	Component	Nucleus	IEA
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	11083468, 19164550
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IDA	9305894, 39019044
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IDA	15243141
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8195709
GO:0006397	Process	MRNA processing	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006955	Process	Immune response	TAS	8195709
GO:0006958	Process	Complement activation, classical pathway	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0008134	Function	Transcription factor binding	IDA	15243141
GO:0008380	Process	RNA splicing	IEA
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IDA	17881511
GO:0016020	Component	Membrane	IDA	8662673, 11290596
GO:0016020	Component	Membrane	IEA
GO:0030449	Process	Regulation of complement activation	IBA
GO:0030449	Process	Regulation of complement activation	IDA	8195709
GO:0030984	Function	Kininogen binding	IBA
GO:0030984	Function	Kininogen binding	IDA	8662673
GO:0031690	Function	Adrenergic receptor binding	IEA
GO:0031690	Function	Adrenergic receptor binding	ISS
GO:0032689	Process	Negative regulation of type II interferon production	IDA	17881511
GO:0032695	Process	Negative regulation of interleukin-12 production	IDA	16177118, 17881511
GO:0039534	Process	Negative regulation of MDA-5 signaling pathway	IDA	19164550
GO:0039536	Process	Negative regulation of RIG-I signaling pathway	IDA	19164550
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0042256	Process	Cytosolic ribosome assembly	IBA
GO:0042256	Process	Cytosolic ribosome assembly	IMP	21536856
GO:0043065	Process	Positive regulation of apoptotic process	IMP	15031724
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	16177118
GO:0045087	Process	Innate immune response	IEA
GO:0045785	Process	Positive regulation of cell adhesion	IMP	20810993
GO:0048025	Process	Negative regulation of mRNA splicing, via spliceosome	IBA
GO:0048025	Process	Negative regulation of mRNA splicing, via spliceosome	IDA	10022843
GO:0048786	Component	Presynaptic active zone	IEA
GO:0050687	Process	Negative regulation of defense response to virus	IMP	19164550
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	16177118
GO:0060703	Function	Deoxyribonuclease inhibitor activity	IDA	31353207
GO:0062153	Function	C5-methylcytidine-containing RNA reader activity	IDA	39019044
GO:0070131	Process	Positive regulation of mitochondrial translation	ISS
GO:0090023	Process	Positive regulation of neutrophil chemotaxis	IDA	9461517
GO:0097177	Function	Mitochondrial ribosome binding	ISS
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:1900026	Process	Positive regulation of substrate adhesion-dependent cell spreading	IMP	11859136
GO:1901165	Process	Positive regulation of trophoblast cell migration	IMP	20810993
GO:2000042	Process	Negative regulation of double-strand break repair via homologous recombination	IDA	31353207
GO:2000510	Process	Positive regulation of dendritic cell chemotaxis	IMP	16140380

MIM	HGNC	e!Ensembl
601269	1243	ENSG00000108561

Protein

UniProt ID

Q07021

Protein name

Complement component 1 Q subcomponent-binding protein, mitochondrial (ASF/SF2-associated protein p32) (Glycoprotein gC1qBP) (C1qBP) (Hyaluronan-binding protein 1) (Mitochondrial matrix protein p32) (gC1q-R protein) (p33) (SF2AP32)

Protein function

Multifunctional and multicompartmental protein involved in inflammation and infection processes, ribosome biogenesis, protein synthesis in mitochondria, regulation of apoptosis, transcriptional regulation and pre-mRNA splicing (PubMed:10022843,

PDB

1P32 , 3RPX , 6SZW , 7TE3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02330	MAM33	86 → 279	Mitochondrial glycoprotein	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed on cell surface of peripheral blood cells (at protein level); Surface expression is reported for macrophages and monocyte-derived dendritic cells. {ECO:0000269|PubMed:12574814, ECO:0000269|PubMed:8662673}.

Sequence

MLPLLRCVPRVLGSSVAGLRAAAPASPFRQLLQPAPRLCTRPFGLLSVRAGSERRPGLLR
PRGPCACGCGCGSLHTDGDKAFVDFLSDEIKEERKIQKHKTLPKMSGGWELELNGTEAKL
VRKVAGEKITVTFNINNSIPPTFDGEEEPSQGQKVEEQEPELTSTPNFVVEVIKNDDGKK
ALVLDCHYPEDEVGQEDEAESDIFSIREVSFQSTGESEWKDTNYTLNTDSLDWALYDHLM
DFLADRGVDNTFADELVELSTALEHQEYITFLEDLKSFVKSQ

Sequence length

282

Interactions

View interactions

	Reactome
			Apoptotic factor-mediated response Intrinsic Pathway of Fibrin Clot Formation Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
combined oxidative phosphorylation deficiency	combined oxidative phosphorylation deficiency 33	rs767427194, rs1555532483, rs1394499137, rs1555532484	N/A
Fatal Mitochondrial Disease	Mitochondrial disease	rs767427194	N/A

Show/Hide Text Mining Associations (56)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Arrhythmias Cardiac	Associate	34003581
Arthritis Psoriatic	Associate	3190747
Arthritis Rheumatoid	Associate	3190747
Atherosclerosis	Associate	36705413
Atypical Squamous Cells of the Cervix	Associate	23268996, 23651874
Atypical Squamous Cells of the Cervix	Inhibit	25288439
Blood Coagulation Disorders	Associate	36705413
Breast Neoplasms	Associate	25573962, 28108744, 36674861
Breast Neoplasms	Stimulate	28108744
Carcinogenesis	Associate	33472357
Carcinoma Hepatocellular	Associate	40429658
Carcinoma Ovarian Epithelial	Associate	23929393
Carcinoma Renal Cell	Associate	35693733
Carcinoma Squamous Cell	Inhibit	23268996
Carcinoma Squamous Cell	Associate	23651874
Cardiomyopathies	Associate	34003581, 34419324
Cerebral Infarction	Associate	39290696
Congenital Abnormalities	Associate	23268996
Cryoglobulinemia Familial Mixed	Stimulate	19828637
Death	Associate	30306260
Death Sudden	Associate	34003581
Endometrial Neoplasms	Stimulate	25355598
Fetal Growth Retardation	Inhibit	24874554
Hereditary Breast and Ovarian Cancer Syndrome	Associate	36674861
Hypercholesterolemia	Associate	33766078
Hypoxia Brain	Associate	18757437
Inflammation	Associate	24083701, 36705413, 37658353
Influenza Human	Associate	33766078
Leukemia Myeloid Acute	Associate	33472357, 37798266
Low Tension Glaucoma	Associate	22960332
Lymphatic Metastasis	Stimulate	23929393, 25355598
Lymphoma	Associate	24746816
Lymphoma Primary Effusion	Associate	21792887
Malaria	Associate	27835682
Mesothelioma Malignant	Associate	37334363
Mitochondrial Diseases	Inhibit	23268996
Mitochondrial Diseases	Associate	24746816, 24874554
Mitochondrial Diseases	Stimulate	25288439, 32878596
Multiple Myeloma	Associate	32760394
Neoplasm Metastasis	Associate	25355598
Neoplasms	Associate	18757437, 21205079, 24746816, 25061661, 25355598, 25794640, 26646247, 31293051, 35693733
Neoplasms	Stimulate	25573962, 32760394
Neurodegenerative Diseases	Associate	22960332
Ophthalmoplegia Chronic Progressive External	Associate	34419324
Peritonitis	Stimulate	23929393
Pneumonia	Associate	21737555
Prostatic Neoplasms	Associate	21205079
Prostatitis	Associate	21205079
Stroke	Associate	39290696
Tertiary Lymphoid Structures	Associate	23929393
Thrombocytopenia	Associate	33472357
Thrombosis	Associate	36705413
Triple Negative Breast Neoplasms	Associate	25794640, 36674861
Urinary Bladder Neoplasms	Associate	24083701
Vascular System Injuries	Associate	19828637
Ventricular Fibrillation	Associate	34003581

C1QBP (complement C1q binding protein)