Human Gene CST3 (ENST00000398411.5) from GENCODE V44
Description: Homo sapiens cystatin C (CST3), transcript variant 2, mRNA. (from RefSeq NM_001288614) RefSeq Summary (NM_001288614): The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes the most abundant extracellular inhibitor of cysteine proteases, which is found in high concentrations in biological fluids and is expressed in virtually all organs of the body. A mutation in this gene has been associated with amyloid angiopathy. Expression of this protein in vascular wall smooth muscle cells is severely reduced in both atherosclerotic and aneurysmal aortic lesions, establishing its role in vascular disease. In addition, this protein has been shown to have an antimicrobial function, inhibiting the replication of herpes simplex virus. Alternative splicing results in multiple transcript variants encoding a single protein. [provided by RefSeq, Nov 2014]. Gencode Transcript: ENST00000398411.5 Gencode Gene: ENSG00000101439.9 Transcript (Including UTRs) Position: hg38 chr20:23,626,706-23,637,945 Size: 11,240 Total Exon Count: 4 Strand: - Coding Region Position: hg38 chr20:23,633,916-23,637,862 Size: 3,947 Coding Exon Count: 3
ID:CYTC_HUMAN DESCRIPTION: RecName: Full=Cystatin-C; AltName: Full=Cystatin-3; AltName: Full=Gamma-trace; AltName: Full=Neuroendocrine basic polypeptide; AltName: Full=Post-gamma-globulin; Flags: Precursor; FUNCTION: As an inhibitor of cysteine proteinases, this protein is thought to serve an important physiological role as a local regulator of this enzyme activity. SUBUNIT: Homodimer. SUBCELLULAR LOCATION: Secreted. TISSUE SPECIFICITY: Expressed in submandibular and sublingual saliva but not in parotid saliva (at protein level). Expressed in various body fluids, such as the cerebrospinal fluid and plasma. Expressed in highest levels in the epididymis, vas deferens, brain, thymus, and ovary and the lowest in the submandibular gland. PTM: The Thr-25 variant is O-glycosylated with a core 1 or possibly core 8 glycan. The signal peptide of the O-glycosylated Thr-25 variant is cleaved between Ala-20 and Val-21. MASS SPECTROMETRY: Mass=13334.5829; Mass_error=0.0140; Method=Electrospray; Range=27-146; Source=PubMed:20189825; DISEASE: Defects in CST3 are the cause of amyloidosis type 6 (AMYL6) [MIM:105150]; also known as hereditary cerebral hemorrhage with amyloidosis (HCHWA), cerebral amyloid angiopathy (CAA) or cerebroarterial amyloidosis Icelandic type. AMYL6 is a hereditary generalized amyloidosis due to cystatin C amyloid deposition. Cystatin C amyloid accumulates in the walls of arteries, arterioles, and sometimes capillaries and veins of the brain, and in various organs including lymphoid tissue, spleen, salivary glands, and seminal vesicles. Amyloid deposition in the cerebral vessels results in cerebral amyloid angiopathy, cerebral hemorrhage and premature stroke. Cystatin C levels in the cerebrospinal fluid are abnormally low. DISEASE: Genetic variations in CST3 are associated with age- related macular degeneration type 11 (ARMD11) [MIM:611953]. ARMD is a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. MISCELLANEOUS: Potential cerebrospinal fluid marker for the diagnosis of Creutzfeldt-Jakob disease. SIMILARITY: Belongs to the cystatin family.
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 P01034
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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.
Biological Process: GO:0001654 eye development GO:0001666 response to hypoxia GO:0001775 cell activation GO:0006915 apoptotic process GO:0006952 defense response GO:0006979 response to oxidative stress GO:0007420 brain development GO:0007431 salivary gland development GO:0007566 embryo implantation GO:0008284 positive regulation of cell proliferation GO:0008584 male gonad development GO:0009636 response to toxic substance GO:0009743 response to carbohydrate GO:0010035 response to inorganic substance GO:0010466 negative regulation of peptidase activity GO:0010711 negative regulation of collagen catabolic process GO:0010716 negative regulation of extracellular matrix disassembly GO:0014070 response to organic cyclic compound GO:0031667 response to nutrient levels GO:0032355 response to estradiol GO:0034103 regulation of tissue remodeling GO:0034599 cellular response to oxidative stress GO:0042493 response to drug GO:0042747 circadian sleep/wake cycle, REM sleep GO:0043067 regulation of programmed cell death GO:0043312 neutrophil degranulation GO:0043687 post-translational protein modification GO:0044267 cellular protein metabolic process GO:0045740 positive regulation of DNA replication GO:0045861 negative regulation of proteolysis GO:0048678 response to axon injury GO:0060009 Sertoli cell development GO:0060311 negative regulation of elastin catabolic process GO:0060313 negative regulation of blood vessel remodeling GO:0060548 negative regulation of cell death GO:0070301 cellular response to hydrogen peroxide GO:0097435 supramolecular fiber organization GO:2000117 negative regulation of cysteine-type endopeptidase activity
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