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 cysta... See more...

Aliases for CSTL1 Gene

Aliases for CSTL1 Gene

  • Cystatin Like 1 2 3 5
  • Cystatin-Like 1 2 3 4
  • RCET11 3 4
  • DJ322G13.4 3
  • CTES1 3

External Ids for CSTL1 Gene

Previous GeneCards Identifiers for CSTL1 Gene

  • GC20P023408
  • GC20P023415
  • GC20P023368

Summaries for CSTL1 Gene

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. Gene Ontology (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

Additional gene information for CSTL1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CSTL1 Gene

Genomics for CSTL1 Gene

GeneHancer (GH) Regulatory Elements for CSTL1 Gene

Promoters and enhancers for CSTL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J023181 Enhancer 1.2 FANTOM5 Ensembl ENCODE 42.7 -260.0 -260038 3.2 CTCF REST CTBP1 MYC NR2F2 NFIC GABPA NCOR1 MAX ZNF592 piR-39807-010 CST8 CST9L CSTL1 NAPB CD93 LOC100505664 ENSG00000234832 NXT1 piR-61101-407
GH20J023356 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11 -79.4 -79438 8.4 EP300 FOXK2 ZNF217 SIN3A TCF12 NRF1 MYC POLR2G USF1 SP1 GZF1 LINC01431 lnc-NAPB-6 NXT1 NAPB CSTL1
GH20J023348 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.1 -88.9 -88860 4.4 ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 TCF12 POLR2G SP1 NCOR1 NXT1 ENSG00000234832 NXT1-AS1 piR-54193 NAPB CSTL1
GH20J023419 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.4 -18.9 -18938 3.4 ZNF217 CTCF NRF1 POLR2G PHF8 SIX5 ZIC2 POLR2A ZBTB26 CUX1 NAPB HSALNG0129256 CSTL1
GH20J023658 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.2 +220.7 220748 4 EP300 FOXK2 ZNF300 POLR2G NCOR1 NONO ZNF354C ZIC2 KDM6A TCF7 piR-56580-025 CST9 NAPB CSTL1 CST3 LOC105372573 CST4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CSTL1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CSTL1

Top Transcription factor binding sites by QIAGEN in the CSTL1 gene promoter:
  • AML1a
  • AREB6
  • ATF6
  • En-1
  • PPAR-alpha
  • RelA
  • RREB-1
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for CSTL1 Gene

Genomic Locations for CSTL1 Gene
chr20:23,439,639-23,461,091
(GRCh38/hg38)
Size:
21,453 bases
Orientation:
Plus strand
chr20:23,420,322-23,425,567
(GRCh37/hg19)
Size:
5,246 bases
Orientation:
Plus strand

Genomic View for CSTL1 Gene

Genes around CSTL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CSTL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CSTL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CSTL1 Gene

Proteins for CSTL1 Gene

  • Protein details for CSTL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H114-CSTL1_HUMAN
    Recommended name:
    Cystatin-like 1
    Protein Accession:
    Q9H114
    Secondary Accessions:
    • Q17RA8
    • Q64FF7

    Protein attributes for CSTL1 Gene

    Size:
    145 amino acids
    Molecular mass:
    16989 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CSTL1 Gene

Post-translational modifications for CSTL1 Gene

  • Glycosylation at Asn42
  • Modification sites at PhosphoSitePlus

Other Protein References for CSTL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CSTL1 Gene

Domains & Families for CSTL1 Gene

Gene Families for CSTL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for CSTL1 Gene

Blocks:
  • Cysteine protease inhibitor
  • Proteinase inhibitor I25A and I25B, type 2 and phytocystatins
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CSTL1 Gene

GenScript: Design optimal peptide antigens:
  • RCET11 (CST1L_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H114

UniProtKB/Swiss-Prot:

CSTL1_HUMAN :
  • Belongs to the cystatin family.
Family:
  • Belongs to the cystatin family.
genes like me logo Genes that share domains with CSTL1: view

Function for CSTL1 Gene

Phenotypes From GWAS Catalog for CSTL1 Gene

Gene Ontology (GO) - Molecular Function for CSTL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004869 cysteine-type endopeptidase inhibitor activity IEA --
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with CSTL1: view
genes like me logo Genes that share phenotypes with CSTL1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for CSTL1

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CSTL1 Gene

Localization for CSTL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CSTL1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CSTL1 gene
Compartment Confidence
extracellular 4
lysosome 1

Gene Ontology (GO) - Cellular Components for CSTL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with CSTL1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CSTL1 Gene

Pathways & Interactions for CSTL1 Gene

PathCards logo

SuperPathways for CSTL1 Gene

No Data Available

Interacting Proteins for CSTL1 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000344907 Q9H114-CSTL1_HUMAN for CSTL1 Gene via STRING IID

;

Gene Ontology (GO) - Biological Process for CSTL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010466 negative regulation of peptidase activity IEA --
GO:0010951 negative regulation of endopeptidase activity IEA --
genes like me logo Genes that share ontologies with CSTL1: view

No data available for Pathways by source and SIGNOR curated interactions for CSTL1 Gene

Drugs & Compounds for CSTL1 Gene

No Compound Related Data Available

Transcripts for CSTL1 Gene

mRNA/cDNA for CSTL1 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CSTL1 Gene

No ASD Table

Relevant External Links for CSTL1 Gene

GeneLoc Exon Structure for
CSTL1

Expression for CSTL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CSTL1 Gene

mRNA differential expression in normal tissues according to GTEx for CSTL1 Gene

This gene is overexpressed in Testis (x44.5).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CSTL1

SOURCE GeneReport for Unigene cluster for CSTL1 Gene:

Hs.352134
genes like me logo Genes that share expression patterns with CSTL1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CSTL1 Gene

Orthologs for CSTL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CSTL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CSTL1 31 30
  • 98.8 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CSTL1 31 30
  • 82.24 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cstl1 17 31 30
  • 80.51 (n)
rat
(Rattus norvegicus)
Mammalia Cstl1 30
  • 79.94 (n)
cow
(Bos Taurus)
Mammalia CSTL1 31 30
  • 69.98 (n)
OneToOne
chicken
(Gallus gallus)
Aves gga-mir-3526 31
  • 25 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 26 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii cst3 31
  • 24 (a)
ManyToMany
Species where no ortholog for CSTL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CSTL1 Gene

ENSEMBL:
Gene Tree for CSTL1 (if available)
TreeFam:
Gene Tree for CSTL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CSTL1: view image

Paralogs for CSTL1 Gene

Paralogs for CSTL1 Gene

(10) SIMAP similar genes for CSTL1 Gene using alignment to 1 proteins:

  • CST1L_HUMAN
genes like me logo Genes that share paralogs with CSTL1: view

Variants for CSTL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CSTL1 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs16985357 - p.Tyr62Phe
rs17757442 - p.Arg66Lys
rs3746736 - p.Trp88Arg
rs3746737 - p.Thr96Met
rs7361799 - p.Thr59Ala

Additional dbSNP identifiers (rs#s) for CSTL1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CSTL1 Gene

Variant ID Type Subtype PubMed ID
esv3645524 CNV gain 21293372
esv3645525 CNV gain 21293372
nsv1063655 CNV gain 25217958
nsv1065390 CNV loss 25217958
nsv470544 CNV gain 18288195
nsv585722 CNV loss 21841781

Variation tolerance for CSTL1 Gene

Residual Variation Intolerance Score: 91.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.58; 72.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CSTL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CSTL1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CSTL1 Gene

Disorders for CSTL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CSTL1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cerebritis
- elite association - COSMIC cancer census association via MalaCards
Search CSTL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CSTL1

genes like me logo Genes that share disorders with CSTL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CSTL1 Gene

Publications for CSTL1 Gene

  1. Evolution and human tissue expression of the Cres/Testatin subgroup genes, a reproductive tissue specific subgroup of the type 2 cystatins. (PMID: 20565543) Frygelius J … Töhönen V (Evolution & development 2010) 2 3 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 54
  4. High-resolution whole-genome association study of Parkinson disease. (PMID: 16252231) Maraganore DM … Ballinger DG (American journal of human genetics 2005) 41 54
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 54

Products for CSTL1 Gene

Sources for CSTL1 Gene