Biomarker: HABP1

Histology type: endometrial carcinoma

Country: China

Region: Harbin

Followed up time :

Subgroup 1 name : Low

Subgroup 1 number: 38

Subgroup 2 name: High

Subgroup 2 number: 150

Conclusion: Our results indicated that overexpression of HABP1 may serve as a new biomarker to predict the progression and prognosis of endometrial cancer.

Sample type : tissue

Sample method: Western blot

Expression pattern : Overexpression(>4,the final score (0–9) was calculated multiplying the positive proportion score by the staining intensity score)

Expression elevation: The proportion of positive cells was classified according to the following criteria: 0 (no positive tumor cell), 1 (<10 % positive tumor cells), 2 (10–50 % positive tumor cells), and 3 (>50 % positive tumor cells). Staining intensity was scored as follows: 0 (no staining), 1 (weak), 2 (moderate), and 3 (strong). The final score (0–9) was calculated multiplying the positive proportion score by the staining intensity score. A final staining score of less than 4 was considered low expression, whereas a score equal to or more than 4 was defined as high expression

Statictics: cutoff<55;cutoff>55

Cohort age: 103;85

Subgroup 1 age: 20;18

Subgroup 2 age: 83;67

Funtion Uniprot: Is believed to be a 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. At the cell surface is thought to act as an endothelial receptor for plasma proteins of the complement and kallikrein-kinin cascades. Putative receptor for C1q; specifically binds to the globular 'heads' of C1q thus inhibiting C1; may perform the receptor function through a complex with C1qR/CD93. In complex with cytokeratin-1/KRT1 is a high affinity receptor for kininogen-1/HMWK. Can also bind other plasma proteins, such as coagulation factor XII leading to its autoactivation. May function to bind initially fluid kininogen-1 to the cell membrane. The secreted form may enhance both extrinsic and intrinsic coagulation pathways. It is postulated that the cell surface form requires docking with transmembrane proteins for downstream signaling which might be specific for a cell-type or response. By acting as C1q receptor is involved in chemotaxis of immature dendritic cells and neutrophils and is proposed to signal through CD209/DC-SIGN on immature dendritic cells, through integrin alpha-4/beta-1 during trophoblast invasion of the decidua, and through integrin beta-1 during endothelial cell adhesion and spreading. Signaling involved in inhibition of innate immune response is implicating the PI3K-AKT/PKB pathway. Required for protein synthesis in mitochondria (PubMed:28942965). In mitochondrial translation may be involved in formation of functional 55S mitoribosomes; the function seems to involve its RNA-binding activity. May be involved in the nucleolar ribosome maturation process; the function may involve the exchange of FBL for RRP1 in the association with pre-ribosome particles. Involved in regulation of RNA splicing by inhibiting the RNA-binding capacity of SRSF1 and its phosphorylation. Is required for the nuclear translocation of splicing factor U2AF1L4. Involved in regulation of CDKN2A- and HRK-mediated apoptosis. Stabilizes mitochondrial CDKN2A isoform smARF. May be involved in regulation of FOXC1 transcriptional activity and NFY/CCAAT-binding factor complex-mediated transcription. May play a role in antibacterial defense as it can bind to cell surface hyaluronan and inhibit Streptococcus pneumoniae hyaluronate lyase. May be involved in modulation of the immune response; ligation by HCV core protein is resulting in suppression of interleukin-12 production in monocyte-derived dendritic cells. Involved in regulation of antiviral response by inhibiting DDX58- and IFIH1-mediated signaling pathways probably involving its association with MAVS after viral infection.(Microbial infection) Involved in HIV-1 replication, presumably by contributing to splicing of viral RNA.(Microbial infection) In infection processes acts as an attachment site for microbial proteins, including Listeria monocytogenes internalin B (InlB) and Staphylococcus aureus protein A.(Microbial infection) Involved in replication of Rubella virus.

UniProt ID: Q07021

UniProt Link: https://www.uniprot.org/uniprotkb/Q07021/entry

Biological function from UniProt: #Adaptive immunity #Apoptosis #Complement pathway #Host-virus interaction #Immunity

Molecular function from UniProt:

Tissue specificity from UniProt: Expressed on cell surface of peripheral blood cells (at protein level); Surface expression is reported for macrophages and monocyte-derived dendritic cells.

Subcellular UniProt: #Cell membrane #Cytoplasm #Membrane #Mitochondrion #Nucleus #Secreted

Alternative name from UniProt:

Caution: The subcellular location has been matter of debate. After being reported to be exclusively localized to mitochondria, demonstrations of promiscuous associations and locations were considered as artifactual due to the extremely acidic character and the use of different tagged versions of the protein (PubMed:9305894, PubMed:11493647). However, its location to multiple compartments linked to diverse functions is now accepted. The N-termini of the surface and secreted forms are identical to the reported processed mitochondrial form

Recommended name: Complement component 1 Q subcomponent-binding protein, mitochondrial

Gene name from HGNC: C1QBP (gC1Q-R, gC1qR, HABP1, p32, SF2p32)

HPA class: Cancer-related genes Disease related genes Human disease related genes Plasma proteins Potential drug targets Transporters

AlphaFold DB: Q07021

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/Q07021

Induction: Enhanced cell surface expression upon platelet and monocyte activation.

HPA link: https://www.proteinatlas.org/ENSG00000108561-C1QBP

Tissue specificity RNA from HPA: Low tissue specificity

Tissue expression from HPA: Ubiquitous cytoplasmic expression with a granular pattern.

Single cell type specificity Low cell type specificity

Immune cell specificity: Low immune cell specificity

Subcellular summary HPA Located in Plasma membrane, Mitochondria

Cancer prognostic summary HPA Gene product is not prognostic

Pathology link: https://www.proteinatlas.org/ENSG00000108561-C1QBP/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000108561-C1QBP/pathology/endometrial+cancer

Phenotype ID: 617713

Disease: Combined oxidative phosphorylation deficiency 33 (COXPD33)

Note1: The disease is caused by variants affecting the gene represented in this entry

Note2: A number sign (#) is used with this entry because of evidence that combined oxidative phosphorylation deficiency-33 (COXPD33) is caused by homozygous or compound heterozygous mutation in the C1QBP gene (601269) on chromosome 17p13.

OMIM: 601269;617713

OMIM link1: https://www.omim.org/entry/617713

OMIM link2: https://alphafold.ebi.ac.uk/entry/Q07021;https://www.omim.org/entry/617713;

Phenotype: Combined oxidative phosphorylation deficiency 33

HGNC ID: HGNC:50294

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:50294