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CSTL1 Gene

protein-coding   GIFtS: 46
GCID: GC20P023368

Cystatin-Like 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Cystatin-Like 11 2
RCET112 3
CTES12
dJ322G13.42

External Ids:    HGNC: 159581   Entrez Gene: 1288172   Ensembl: ENSG000001258237   UniProtKB: Q9H1143   
ORGUL members:         

Export aliases for CSTL1 gene to outside databases

Previous GC identifers: GC20P023408 GC20P023415


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CSTL1 Gene:
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)

GeneCards Summary for CSTL1 Gene:
CSTL1 (cystatin-like 1) is a protein-coding gene. Diseases associated with CSTL1 include cerebritis, and parkinson's disease. GO annotations related to this gene include cysteine-type endopeptidase inhibitor activity. An important paralog of this gene is CST4.

Gene Wiki entry for CSTL1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000020.11  NC_018931.2  NT_011387.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the CSTL1 gene promoter:
         STAT1   AML1a   RREB-1   STAT1beta   RelA   STAT1alpha   PPAR-alpha   AREB6   ATF6   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCSTL1 promoter sequence
   Search Chromatin IP Primers for CSTL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CSTL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p11.21   Ensembl cytogenetic band:  20p11.21   HGNC cytogenetic band: 20p11.21

CSTL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CSTL1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P023368:  view genomic region     (about GC identifiers)

Start:
23,420,322 bp from pter      End:
23,425,567 bp from pter
Size:
5,246 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CST1L_HUMAN, Q9H114 (See protein sequence)
Recommended Name: Cystatin-like 1 precursor  
Size: 145 amino acids; 16989 Da
Secondary accessions: Q17RA8 Q64FF7

Explore the universe of human proteins at neXtProt for CSTL1: NX_Q9H114

Explore proteomics data for CSTL1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn42, Asn54, Asn57, Asn94, Asn98, Asn131

  • See CSTL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_612140.1  
    ENSEMBL proteins: 
     ENSP00000246020   ENSP00000344907  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR000010 Prot_inh_cystat
     IPR027214 Cystatin

    Graphical View of Domain Structure for InterPro Entry Q9H114

    ProtoNet protein and cluster: Q9H114

    2 Blocks protein domains:
    IPB000010 Cysteine protease inhibitor
    IPB003243 Proteinase inhibitor I25A and I25B


    UniProtKB/Swiss-Prot: CST1L_HUMAN, Q9H114
    Similarity: Belongs to the cystatin family


    CSTL1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004869cysteine-type endopeptidase inhibitor activity IEA--
         
    CSTL1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Cstl1 (no phenotypes)

    CSTL1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cstl1tm1Lex for CSTL1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CST1L_HUMAN, Q9H114: Secreted (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--

    CSTL1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CSTL1
    Interactions:

        Search GeneGlobe Interaction Network for CSTL1

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
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    Browse Tocris compounds for CSTL1 (CST1L)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CSTL1 gene: 
    NM_138283.1  

    Unigene Cluster for CSTL1:

    Cystatin-like 1
    Hs.352134  [show with all ESTs]
    Unigene Representative Sequence: BI544560
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000472140 ENST00000246020 ENST00000485969 ENST00000347397(uc002wte.3 uc010zsu.2 uc010zsv.2)

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      QuantiTect SYBR Green Assays in human, mouse, rat CSTL1
      QuantiFast Probe-based Assays in human, mouse, rat CSTL1

    Additional mRNA sequence: 

    AY707749.1 BC117396.1 BC144010.1 BC144013.1 FJ895879.1 FJ895880.1 

    3 DOTS entries:

    DT.40130202  DT.120832641  DT.40130203 

    6 AceView cDNA sequences:

    AY707749 NM_138283 AA861184 AA897433 BI560738 BI544560 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CSTL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGGCAGAAA
    CSTL1 Expression
    About this image

    CSTL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CSTL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.352134
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CSTL1 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cstl11 , 5 cystatin-like 11, 5 80.51(n)1
    74.58(a)1
      2 (73.53 cM)5
    2287561  NM_177655.31  NP_808323.11 
     1487503585 
    chicken
    (Gallus gallus)
    Aves gga-mir-35266
    Gallus gallus cystatin C (CST3), mRNA.
    25(a)
    1 → many
    3(14928612-14932913)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    26(a)
    1 → many
    4(82204275-82217421)
    zebrafish
    (Danio rerio)
    Actinopterygii cst36
    cystatin C (amyloid angiopathy and cerebral hemorr...
    24(a)
    many ↔ many
    13(33900031-33908388) ENSDARG00000007795


    ENSEMBL Gene Tree for CSTL1 (if available)
    TreeFam Gene Tree for CSTL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CSTL1 gene
    CST42  CST22  CST82  CST12  CST32  CST52  CST112  
    10 SIMAP similar genes for CSTL1 using alignment to 1 protein entry:     CST1L_HUMAN:
    CST7    CST6    CST2    CST11    CST3    CST8
    CST1    CST4    CST5    CST9L

    CSTL1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CSTL1 (see all 194)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1407303831,2
    --23418326(+) TTCCAC/TGGAAA 1 -- us2k10--------
    rs1174922131,2
    C,F--23418327(+) TCCACG/AGAAAT 1 -- us2k11Minor allele frequency- A:0.02NA 120
    rs1445951651,2
    --23418411(+) CTGTCA/GCCCAG 1 -- us2k10--------
    rs61379501,2
    C--23418722(+) CATATT/ATTTTT 1 -- us2k1 trp33Minor allele frequency- A:0.19NA EA 242
    rs789613691,2
    C,F--23418826(+) CTGTGG/ACATAG 1 -- us2k12Minor allele frequency- A:0.08CSA WA 120
    rs791411061,2
    F--23418885(+) TTTTCC/GTCTTT 1 -- us2k11Minor allele frequency- G:0.05WA 118
    rs1139425351,2
    C--23418946(+) TTGAGC/TCCCAC 1 -- us2k12Minor allele frequency- T:0.04NA 122
    rs1385404261,2
    --23419050(+) TGAGAC/TGGCAC 1 -- us2k10--------
    rs1416303341,2
    C--23419051(+) GAGACG/TGCACA 1 -- us2k10--------
    rs60831241,2
    C,H--23419057(+) GCACAG/TGTCTG 1 -- us2k1 tfbs34Minor allele frequency- T:0.00NS NA 224

    HapMap Linkage Disequilibrium report for CSTL1 (23420322 - 23425567 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CSTL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv4559n71CNV Gain21882294
    nsv470544CNV Gain18288195
    nsv912820CNV Gain+Loss21882294

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    2 diseases for CSTL1:    
    About MalaCards
    cerebritis    parkinson's disease


    CSTL1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CSTL1

    Export disorders for CSTL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CSTL1 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with CSTL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Evolution and human tissue expression of the Cres/Testatin subgroup genes, a reproductive tissue specific subgroup of the type 2 cystatins. (PubMed id 20565543)1, 3 Frygelius J....TAPhAPnen V. (amp 2010)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    4. High-resolution whole-genome association study of Parkinson disease. (PubMed id 16252231)4 Maraganore D.M....Ballinger D.G. (Am. J. Hum. Genet. 2005)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    6. Friends and relations of the cystatin superfamily--new members and their evolution. (PubMed id 9007972)1 Brown W.M. and Dziegielewska K.M. (Protein Sci. 1997)
    7. 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. (PubMed id 8179826)1 Thiesse M....Dickinson D.P. (DNA Cell Biol. 1994)
    8. Direct mapping of seven genes encoding human type 2 cystatins to a single site located at 20p11.2. (PubMed id 7896273)1 Dickinson D.P....Siciliano M.J. (Genomics 1994)
    9. Genomic cloning, physical mapping, and expression of human type 2 cystatin genes. (PubMed id 7690606)1 Dickinson D.P....Millar S.J. (Crit. Rev. Oral Biol. Med. 1993)
    10. Cystatin superfamily. Evidence that family II cystatin genes are evolutionarily related to family III cystatin genes. (PubMed id 3202964)1 Saitoh E.... Maeda N. (Biol. Chem. Hoppe-Seyler 1988)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 128817 HGNC: 15958 AceView: CSTL1 Ensembl:ENSG00000125823 euGenes: HUgn128817
    ECgene: CSTL1 H-InvDB: CSTL1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CSTL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CSTL1 gene:
    Search GeneIP for patents involving CSTL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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