Human Gene CSTL1 (uc002wte.3) Description and Page Index
Description: Homo sapiens cystatin-like 1 (CSTL1), mRNA. RefSeq Summary (NM_138283): 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. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located at the telomeric end of the cystatin locus and encodes a type 2 cystatin-like protein. The specific function of this protein has not been determined. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AY707749.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2151119 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr20:23,420,322-23,425,567 Size: 5,246 Total Exon Count: 4 Strand: + Coding Region Position: hg19 chr20:23,420,905-23,425,515 Size: 4,611 Coding Exon Count: 3
ID:CST1L_HUMAN DESCRIPTION: RecName: Full=Cystatin-like 1; AltName: Full=RCET11; Flags: Precursor; SUBCELLULAR LOCATION: Secreted (Potential). SIMILARITY: Belongs to the cystatin family.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): CSTL1 CDC HuGE Published Literature: CSTL1 Positive Disease Associations: Parkinson Disease Related Studies:
Parkinson Disease Demetrius M Maraganore et al. American journal of human genetics 2005, High-resolution whole-genome association study of Parkinson disease., American journal of human genetics.
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 Q9H114
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.