Aliases for CST9L Gene
Aliases for CST9L Gene
External Ids for CST9L Gene
- HGNC: 16233
- Entrez Gene: 128821
- Ensembl: ENSG00000101435
- OMIM: 616536
- UniProtKB: Q9H4G1
Previous GeneCards Identifiers for CST9L Gene
- GC20M023533
- GC20M023493
- GC20M023540
- GC20M023506
Summaries for CST9L 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 in the cystatin locus and encodes a protein similar to mouse cystatin 9. Based on its testis-specific expression, it is likely to have a role in tissue reorganization during early testis development. [provided by RefSeq, Jul 2008]
GeneCards Summary for CST9L Gene
CST9L (Cystatin 9-Like) is a Protein Coding gene. GO annotations related to this gene include cysteine-type endopeptidase inhibitor activity. An important paralog of this gene is CST9.
No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CST9L Gene
Genomics for CST9L Gene
Regulatory Elements for CST9L Gene
Enhancers for CST9L Gene
| GeneHancer Identifier | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
Enhancers around CST9L on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the CST9L gene promoter:
Regulatory Element Products
Genomic Location for CST9L Gene
- Chromosome:
- 20
- Start:
- 23,564,732 bp from pter
- End:
- 23,568,749 bp from pter
- Size:
- 4,018 bases
- Orientation:
- Minus strand
Genomic View for CST9L Gene
Genes around CST9L on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20p11.21 by Ensembl
- 20p11.21 by Entrez Gene
- 20p11.21 by HGNC
CST9L Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CST9L Gene
Proteins for CST9L Gene
-
Protein details for CST9L Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9H4G1-CST9L_HUMAN
- Recommended name:
- Cystatin-9-like
- Protein Accession:
- Q9H4G1
- B2R5A1
Protein attributes for CST9L Gene
- Size:
- 147 amino acids
- Molecular mass:
- 17276 Da
- Quaternary structure:
- No Data Available
- Miscellaneous:
-
- Lacks critical consensus sites important for cysteine protease inhibition.
Protein Expression for CST9L Gene
Post-translational modifications for CST9L Gene
Other Protein References for CST9L Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CST9L
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-
Santa Cruz Biotechnology (SCBT) Antibodies for CST9L
Protein Products
-
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- antibodies-online Proteins for CST9L: See all 4
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- Abcam proteins for CST9L
Assay Products
- antibodies-online Kits for CST9L: See all 3
No data available for DME Specific Peptides for CST9L Gene
Domains & Families for CST9L Gene
Gene Families for CST9L Gene
- HGNC:
Protein Domains for CST9L Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for CST9L Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9H4G1- Family:
-
- Belongs to the cystatin family.
Function for CST9L Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 25416956 |
Phenotypes for CST9L Gene
- MGI mutant phenotypes for CST9L:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for CST9L:
Animal Model Products
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-
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-
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CRISPR Products
-
OriGene CRISPR knockouts for CST9L
-
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miRNA for CST9L Gene
- miRTarBase miRNAs that target CST9L
miRNA Products
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Inhibitory RNA Products
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-
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-
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-
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-
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No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CST9L Gene
Localization for CST9L Gene
Subcellular locations from UniProtKB/Swiss-Prot for CST9L Gene
- Secreted.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
No data available for Gene Ontology (GO) - Cellular Components for CST9L Gene
Pathways & Interactions for CST9L Gene
More details on SuperPathways for CST9L
No Data Available
Interacting Proteins for CST9L Gene
Selected Interacting proteins:
ENSP00000366178
Q9H4G1-CST9L_HUMAN
for CST9L Gene via
STRING
UniProtKB
No data available for Pathways by source and SIGNOR curated interactions for CST9L Gene
Transcripts for CST9L Gene
mRNA/cDNA for CST9L Gene
- (1) REFSEQ mRNAs :
- (3) Additional mRNA sequences :
- (32) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for CST9L
-
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-
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Expression for CST9L Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Testis (Reproductive System)
- Pre-Sertoli Cells Testis Cord
- Testicular Interstitial Cells Testis Interstitium
- Mature Sertoli Cells Seminiferous Tubules
- XY Germ Cells Testis Cord
-
Gonad
- XY Germ Cells Testis Cord
mRNA differential expression in normal tissues according to GTEx for CST9L Gene
This gene is overexpressed in Testis (x52.6).
This gene is overexpressed in Ovary (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CST9L Gene
SOURCE GeneReport for Unigene cluster for CST9L Gene Hs.121554
mRNA Expression by UniProt/SwissProt for CST9L Gene
Q9H4G1-CST9L_HUMAN
Tissue specificity:
Specifically espressed in testis.
- Elite partner
Primer Products
-
OriGene qPCR primer pairs and template standards for CST9L
-
OriGene qPCR primer pairs for CST9L
Orthologs for CST9L Gene
This gene was present in the common ancestor of mammals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | LOC505033 35 |
|
||
| -- 36 |
|
OneToMany | |||
| -- 36 |
|
OneToMany | |||
| dog (Canis familiaris) |
Mammalia | CST9 35 |
|
||
| CST9L 36 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Cst9 35 |
|
||
| Cst9 16 |
|
||||
| 9230104L09Rik 36 |
|
ManyToMany | |||
| chimpanzee (Pan troglodytes) |
Mammalia | LOC740314 35 |
|
||
| CST9L 36 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Cst9l 35 |
|
- Species with no ortholog for CST9L:
-
- 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)
- chicken (Gallus gallus)
- 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)
- lizard (Anolis carolinensis)
- 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)
- zebrafish (Danio rerio)
Paralogs for CST9L Gene
(5) SIMAP similar genes for CST9L Gene using alignment to 1 proteins:
Pseudogenes.org Pseudogenes for CST9L Gene
Variants for CST9L Gene
| SNP ID | Clin | Chr 20 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs2295564 | - | 23,566,002(+) | GGAAA(A/G/T)GGCAG | reference, missense | |
| rs1054613 | -- | 23,564,922(-) | TGTCC(A/C/G)TGTGC | utr-variant-3-prime | |
| rs1966183 | -- | 23,570,094(+) | cctcc(A/G)cctcc | upstream-variant-2KB | |
| rs1973958 | -- | 23,570,095(+) | ctccg(C/T)ctccc | upstream-variant-2KB | |
| rs1973959 | -- | 23,570,183(+) | TTTGT(A/G)TTTTT | upstream-variant-2KB |
Residual Variation Intolerance Score:
80.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.10;
50.99% of all genes are more intolerant (likely to be disease-causing)
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for CST9L Gene
Disorders for CST9L Gene
Relevant External Links for CST9L
No disorders were found for CST9L Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CST9L Gene
Publications for CST9L Gene
- 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. … TAPhAPnen V. (Evol. Dev. 2010) 2 3 4 67
- A new subgroup of the family 2 cystatins. (PMID: 12644294) Cornwall G.A. … Hsia N. (Mol. Cell. Endocrinol. 2003) 3 23
- Isolation of the human testatin gene and analysis in patients with abnormal gonadal development. (PMID: 11756564) Eriksson A. … Nordqvist K. (Mol. Hum. Reprod. 2002) 3 23
- A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
- Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J. … Yang X. (Mol. Syst. Biol. 2011) 3
Products for CST9L Gene
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Sources for CST9L Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
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- (25) DrugBank
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- (29) RNAdb
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- (32) GeneAnnot
- (33) SAGE
- (34) SOURCE
- (35) HomoloGene
- (36) PanEnsembl
- (37) euGenes
- (38) SGD
- (39) FlyBase
- (40) WormBase
- (41) Pseudogene
- (42) DGV
- (43) dbSNP
- (44) HapMap
- (45) GenAtlas
- (46) GeneTests
- (47) HGMD
- (48) GAD
- (49) LSDB
- (50) BGMUT
- (51) HuGE
- (52) eBioscience
- (53) Atlas
- (54) Cell Signaling Technology
- (55) GenBank
- (56) H-invDB
- (57) HORDE
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- (64) Nature
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- (69) Salk
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- (78) Sino Biological
- (79) GenScript
- (80) Qiagen
- (81) Cloud-Clone Corp.
- (82) Enzo Life Sciences
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- (84) Proteopedia
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- (86) SPIRE
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- (88) Reactome
- (89) GeneGo (Thomson Reuters)
- (90) fRNAdb
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