CSTL1

CSTL1
Identifiers
Aliases	CSTL1 , CTES1, RCET11, dJ322G13.4, cystatin like 1
External IDs	MGI: 2652834; HomoloGene: 16283; GeneCards: CSTL1; OMA:CSTL1 - orthologs
Gene location (Human) Chr. Chromosome 20 (human) [1] Band 20p11.21 Start 23,439,685 bp [1] End 23,444,930 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2|2 G3 Start 148,592,278 bp [2] End 148,597,353 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle right testis left testis gonad right lobe of liver skin of leg right uterine tube upper respiratory tract face sensory organ Top expressed in spermatid testicle embryo embryo primary oocyte secondary oocyte spermatocyte zygote superior frontal gyrus primary visual cortex More reference expression data BioGPS n/a
Gene ontology Molecular function peptidase inhibitor activity protease binding cysteine-type endopeptidase inhibitor activity Cellular component extracellular region extracellular space Biological process negative regulation of peptidase activity negative regulation of cysteine-type endopeptidase activity negative regulation of endopeptidase activity Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 128817 228756 Ensembl ENSG00000125823 ENSMUSG00000055177 UniProt Q9H114 Q80Y72 RefSeq (mRNA) NM_138283 NM_177655 NM_001362207 RefSeq (protein) NP_612140 NP_808323 NP_001349136 Location (UCSC) Chr 20: 23.44 – 23.44 Mb Chr 2: 148.59 – 148.6 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Cystatin-like 1 is a protein that in humans is encoded by the CSTL1 gene. ^[5]

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. ^[5]

References

1. GRCh38: Ensembl release 89: ENSG00000125823 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000055177 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: CSTL1 cystatin-like 1".

External links

• Human CSTL1 genome location and CSTL1 gene details page in the UCSC Genome Browser .

Further reading

• Brown WM, Dziegielewska KM (1997). "Friends and relations of the cystatin superfamily--new members and their evolution". Protein Sci. 6 (1): 5–12. doi:10.1002/pro.5560060102. PMC   2143511 . PMID   9007972.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. Bibcode:2001Natur.414..865D. doi: 10.1038/414865a . PMID   11780052.
• Thiesse M, Millar SJ, Dickinson DP (1994). "The human type 2 cystatin gene family consists of eight to nine members, with at least seven genes clustered at a single locus on human chromosome 20". DNA Cell Biol. 13 (2): 97–116. doi:10.1089/dna.1994.13.97. PMID   8179826.
• Dickinson DP, Zhao Y, Thiesse M, Siciliano MJ (1995). "Direct mapping of seven genes encoding human type 2 cystatins to a single site located at 20p11.2". Genomics. 24 (1): 172–5. doi:10.1006/geno.1994.1595. PMID   7896273.
• Dickinson DP, Thiesse M, Dempsey LD, Millar SJ (1993). "Genomic cloning, physical mapping, and expression of human type 2 cystatin genes". Crit. Rev. Oral Biol. Med. 4 (3–4): 573–80. doi:10.1177/10454411930040034401. PMID   7690606.
• Saitoh E, Isemura S, Sanada K, et al. (1989). "Cystatin superfamily. Evidence that family II cystatin genes are evolutionarily related to family III cystatin genes". Biol. Chem. Hoppe-Seyler. 369 Suppl: 191–7. PMID   3202964.