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Aliases for CSTL1 Gene

Aliases for CSTL1 Gene

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

External Ids for CSTL1 Gene

Previous GeneCards Identifiers for CSTL1 Gene

  • GC20P023408
  • GC20P023415

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. GO annotations related to this gene include cysteine-type endopeptidase inhibitor activity.

Gene Wiki entry for CSTL1 Gene

Additional gene information for CSTL1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CSTL1 Gene

Genomics for CSTL1 Gene

Regulatory Elements for CSTL1 Gene

Enhancers for CSTL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20H023179 1.3 FANTOM5 Ensembl ENCODE 42.7 -259.1 -259142 1.4 PKNOX1 ATF1 NR4A1 ETV1 NR2F2 GABPA ZNF592 TFDP1 NFIC EGR1 CST8 CST9L CSTL1 CD93 NXT1 ENSG00000234832 ENSG00000230387 ENSG00000275179
GH20H023658 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.2 +220.7 220651 3.9 HDGF FOXA2 MLX ZFP64 ARID4B YBX1 DMAP1 SLC30A9 ZNF207 PAF1 NXT1 ENSG00000230908 CST13P ENSG00000260202 CST8 CST12P CST11 POM121L3P LOC100419956 CST9
GH20H023356 1.4 ENCODE dbSUPER 11 -79.5 -79513 7.6 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC PPARGC1A NXT1 NAPB CSTL1 GZF1 LINC01431
GH20H023407 0.8 Ensembl ENCODE 17.6 -31.1 -31086 1.7 PKNOX1 POLR2A RUNX3 RELA NAPB CSTL1 ENSG00000234832 NXT1 CST9 GC20M023381 RNA5SP479
GH20H023348 1.4 ENCODE dbSUPER 10 -89.1 -89111 3.9 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 NAPB NXT1 CSTL1 PIR48192
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CSTL1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CSTL1 Gene

Genomic Locations for CSTL1 Gene
21,453 bases
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:
    Recommended name:
    Cystatin-like 1
    Protein Accession:
    Secondary Accessions:
    • Q17RA8
    • Q64FF7

    Protein attributes for CSTL1 Gene

    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 posLast=4242, posLast=5454, posLast=5757, posLast=9494, isoforms=98, and isoforms=131
  • 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

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

Suggested Antigen Peptide Sequences for CSTL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the cystatin 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:0002020 protease binding IBA --
GO:0004869 cysteine-type endopeptidase inhibitor activity IBA,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

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


Subcellular locations from

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 5

Gene Ontology (GO) - Cellular Components for CSTL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA --
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

SuperPathways for CSTL1 Gene

No Data Available

Interacting Proteins for CSTL1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
Selected Interacting proteins: ENSP00000246020 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 --
GO:2000117 negative regulation of cysteine-type endopeptidase activity IBA --
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 :
(6) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CSTL1 Gene

Cystatin-like 1:
Representative Sequences:

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
ECgene alternative splicing isoforms for

Expression for CSTL1 Gene

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

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

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

NURSA nuclear receptor signaling pathways regulating expression of CSTL1 Gene:


SOURCE GeneReport for Unigene cluster for CSTL1 Gene:

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
(Pan troglodytes)
Mammalia CSTL1 33 34
  • 98.8 (n)
(Canis familiaris)
Mammalia CSTL1 33 34
  • 82.24 (n)
(Mus musculus)
Mammalia Cstl1 33 16 34
  • 80.51 (n)
(Rattus norvegicus)
Mammalia Cstl1 33
  • 79.94 (n)
(Bos Taurus)
Mammalia CSTL1 33 34
  • 69.98 (n)
(Gallus gallus)
Aves gga-mir-3526 34
  • 25 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 26 (a)
(Danio rerio)
Actinopterygii cst3 34
  • 24 (a)
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

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

Paralogs for CSTL1 Gene

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

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

No data available for Paralogs for CSTL1 Gene

Variants for CSTL1 Gene

Sequence variations from dbSNP and Humsavar for CSTL1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1000436925 -- 23,438,481(+) TGGCC(C/T)TCGGC upstream-variant-2KB
rs1000549848 -- 23,442,286(+) GCTGC(C/T)AGGTG intron-variant
rs1000648510 -- 23,445,060(+) ACCCT(C/T)ACACT downstream-variant-500B
rs1001125831 -- 23,438,901(+) GCACG(A/C)TACTC upstream-variant-2KB
rs1001610805 -- 23,443,449(+) AATGG(A/C)AAATG intron-variant

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

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

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)

Relevant External Links for CSTL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for CSTL1 Gene

Relevant External Links for CSTL1

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for CSTL1 Gene.

No data available for MalaCards , 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 60
  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 60
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 60
  4. High-resolution whole-genome association study of Parkinson disease. (PMID: 16252231) Maraganore DM … Ballinger DG (American journal of human genetics 2005) 45 60
  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 60

Products for CSTL1 Gene

Sources for CSTL1 Gene

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