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 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr20:23,420,322-23,425,567)mRNA (may differ from genome)Protein (145 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
Stanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
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:
  1. 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. [PubMed 16252231]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.20 RPKM in Testis
Total median expression: 4.37 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -80.60246-0.328 Picture PostScript Text
3' UTR -7.8052-0.150 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000010 - Prot_inh_cystat

Pfam Domains:
PF00031 - Cystatin domain

SCOP Domains:
54403 - Cystatin/monellin

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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0002020 protease binding
GO:0004869 cysteine-type endopeptidase inhibitor activity
GO:0030414 peptidase inhibitor activity

Biological Process:
GO:0010466 negative regulation of peptidase activity
GO:2000117 negative regulation of cysteine-type endopeptidase activity

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space

-  Descriptions from all associated GenBank mRNAs
  AY707749 - Homo sapiens RCET11 mRNA, complete cds.
JD211400 - Sequence 192424 from Patent EP1572962.
JD051907 - Sequence 32931 from Patent EP1572962.
JD266814 - Sequence 247838 from Patent EP1572962.
JD053815 - Sequence 34839 from Patent EP1572962.
BC144010 - Homo sapiens cDNA clone IMAGE:9052529, with apparent retained intron.
BC117396 - Homo sapiens cystatin-like 1, mRNA (cDNA clone MGC:151005 IMAGE:40125947), complete cds.
BC144013 - Homo sapiens cDNA clone IMAGE:9052533, with apparent retained intron.
JD170718 - Sequence 151742 from Patent EP1572962.
HQ258073 - Synthetic construct Homo sapiens clone IMAGE:100072382 cystatin-like 1 (CSTL1) gene, encodes complete protein.
KJ900122 - Synthetic construct Homo sapiens clone ccsbBroadEn_09516 CSTL1 gene, encodes complete protein.
FJ895879 - Homo sapiens cystatin-like 1 testis transcript 1 (CSTL1) pseudogene mRNA, partial sequence.
FJ895880 - Homo sapiens cystatin-like 1 testis transcript 2 (CSTL1) pseudogene mRNA, partial sequence.

-  Other Names for This Gene
  Alternate Gene Symbols: CST1L_HUMAN, NM_138283, NP_612140, Q17RA8, Q64FF7, Q9H114
UCSC ID: uc002wte.3
RefSeq Accession: NM_138283
Protein: Q9H114 (aka CST1L_HUMAN or CSTL_HUMAN)
CCDS: CCDS13153.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_138283.1
exon count: 4CDS single in 3' UTR: no RNA size: 736
ORF size: 438CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 960.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.