CSTL1 Gene
protein-coding GIFtS: 41
GCID: GC20P023368
|
|
cystatin-like 1
| |
Aliases
for CSTL1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Cystatin-Like 11 2 | | CTES11 2 | | DJ322G13.41 | | RCET112 3 |
Export aliases for CSTL1 gene to outside databasesPrevious GC identifers: GC20P023408 GC20P023415 |
Summaries
for CSTL1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for CSTL1:
The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members areactive cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. Thereare three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and thekininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of humanfluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes andpseudogenes. This gene is located at the telomeric end of the cystatin locus and encodes a type 2 cystatin-likeprotein. The specific function of this protein has not been determined. (provided by RefSeq, Jul 2008)
Gene Wiki entry for CSTL1
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000020.10 NC_018931.1 NT_011387.8
Regulatory elements:
 SABiosciences 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
Search SABiosciences Chromatin IP Primers for CSTL1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 20p11.21CSTL1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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:
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plus strand |
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Proteins
for CSTL1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: CST1L_HUMAN, Q9H114 (See
protein sequence)Recommended Name: Cystatin-like 1 precursor Size: 145 amino acids; 16989 Da
Subcellular location: Secreted (Potential)
Secondary accessions: Q17RA8 Q64FF7Explore the universe of human proteins at neXtProt for CSTL1: NX_Q9H114
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9H114
CSTL1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_612140.1
ENSEMBL proteins: ENSP00000246020 ENSP00000344907
Human Recombinant Protein Products for CSTL1:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005576 | extracellular region |
IEA | -- |
CSTL1 for ontologies About GeneDecksing
CSTL1 Antibody Products:
Assay Products for CSTL1: |
Protein
Domains /
Families
for CSTL1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CSTL1 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9H114ProtoNet protein and cluster: Q9H114 2 Blocks protein families: IPB000010 Cysteine protease inhibitor IPB003243 Proteinase inhibitor I25A and I25B
UniProtKB/Swiss-Prot: CST1L_HUMAN, Q9H114Similarity: Belongs to the cystatin family |
Function
for CSTL1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004869 | cysteine-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:
Mouse knock-out Cstl1tm1Lex for CSTL1
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CSTL1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CSTL1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CSTL1 |
|
Pathways & Interactions
for CSTL1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CSTL1
|
Drugs & Compounds
for CSTL1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for CSTL1
Search CenterWatch for drugs/clinical trials and news about CSTL1 / CST1L
|
Transcripts
for CSTL1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for CSTL1 gene: NM_138283.1 Unigene Cluster for CSTL1: Cystatin-like 1 Hs.352134 [show with all ESTs]Unigene Representative Sequence: BI5445604 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000472140 ENST00000246020 ENST00000485969 ENST00000347397(uc002wte.3 uc010zsu.2 uc010zsv.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CSTL1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CSTL1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: CSTL1 (NM_138283) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CSTL1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CSTL1 |
Additional cDNA 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: NM_138283 AY707749 AA861184 AA897433 BI560738 BI544560
GeneLoc Exon Structure
|
Expression
for CSTL1 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| CSTL1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGGGCAGAAA
About this image
See CSTL1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CSTL1
SOURCE GeneReport for Unigene cluster: Hs.352134
SABiosciences Custom PCR Arrays for CSTL1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CSTL1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CSTL1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CSTL1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CSTL1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CSTL1 |
Orthologs
for CSTL1 gene
(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)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for CSTL1 gene from 1/6 species (see all 6) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
zebrafish
(Danio rerio) |
Actinopterygii |
cst36zgc:1630306 |
zgc:163030 |
25(a)24(a) |
many ↔ manymany ↔ many |
13(33900031-33908388) 13(33894411-33896169) |
ENSEMBL Gene Tree for CSTL1 (if available)
TreeFam Gene Tree for CSTL1 (if available) |
Paralogs
for CSTL1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CSTL1 gene
- CST42 CST22 CST82 CST72 CST12 CST32 CST52 CST112
- CST62
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
|
Genomic Variants
for CSTL1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 20 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CSTL1 (23420322 - 23425567 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CSTL1: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CSTL1 |
|
Disorders
/ Diseases
for CSTL1 gene
(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.)
About This Section
|
CSTL1 for disorders About GeneDecksing
2  diseases for CSTL1: About MalaCardscerebral hemorrhage cerebritis
Export disorders for CSTL1 gene to outside databases
|
Publications
for CSTL1 gene (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)
About This Section
|
PubMed articles for CSTL1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with CSTL1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Evolution and human tissue expression of the Cres/Tes tatin subgroup genes, a reproductive tissue specific subgroup of the type 2 cys tatins. (PubMed id 20565543)1, 3 Frygelius J....TAPhAPnen V. (2010)
- 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. (2004)
- The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
- 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. (2002)
- Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)
- Friends and relations of the cystatin superfamily--new members and their evolution. (PubMed id 9007972)1 Brown W.M. and Dziegielewska K.M. (1997)
- 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. (1994)
- 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. (1994)
- Genomic cloning, physical mapping, and expression of human type 2 cystatin genes. (PubMed id 7690606)1 Dickinson D.P....Millar S.J. (1993)
- Cystatin superfamily. Evidence that family II cystatin genes are evolutionarily related to family III cystatin genes. (PubMed id 3202964)1 Saitoh E.... Maeda N. (1988)
|
External Searches for CSTL1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing CSTL1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CSTL1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CSTL1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for CSTL1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| 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
|
Products
for CSTL1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for CSTL1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CSTL1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CSTL1 | | | OriGene Protein Over-expression Lysate for CSTL1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for CSTL1 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CSTL1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CSTL1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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 | | | CSTL1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CSTL1 |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CSTL1 |
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