CST7 cystatin F [Homo sapiens (human)] - Gene

Summary

Official Symbol: CST7provided by HGNC
Official Full Name: cystatin Fprovided by HGNC
Primary source: HGNC:HGNC:2479
See related: Ensembl:ENSG00000077984 MIM:603253; AllianceGenome:HGNC:2479
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CMAP
Summary: 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. This gene encodes a glycosylated cysteine protease inhibitor with a putative role in immune regulation through inhibition of a unique target in the hematopoietic system. Expression of the protein has been observed in various human cancer cell lines established from malignant tumors. [provided by RefSeq, Jul 2008]
Expression: Biased expression in bone marrow (RPKM 321.5), spleen (RPKM 27.1) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 20p11.21

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (24949269..24959928)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (25013382..25024201)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (24929905..24940564)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cystatin F acts as a mediator of immune suppression in glioblastoma.
Title: Cystatin F acts as a mediator of immune suppression in glioblastoma.
Transcriptomic Profiling Identifies Neutrophil-Specific Upregulation of Cystatin F as a Marker of Acute Inflammation in Humans.
Title: Transcriptomic Profiling Identifies Neutrophil-Specific Upregulation of Cystatin F as a Marker of Acute Inflammation in Humans.
Exploring the factors underlying remyelination arrest by studying the post-transcriptional regulatory mechanisms of cystatin F gene.
Title: Exploring the factors underlying remyelination arrest by studying the post-transcriptional regulatory mechanisms of cystatin F gene.
Cystatin F was identified as the key subunit of family 2 cystatins in survival analysis. Pancreatic ductal adenocarcinoma (PDAC) patients who harbored a higher expression level of CST7 had a lower risk in overall survival. The prognostic nomogram indicated that the CST7 expression model effectively predicted the outcomes of patients with earlystage PDAC.
Title: Cystatin F as a key family 2 cystatin subunit and prognostic biomarker for early‑stage pancreatic ductal adenocarcinoma.
during monocyte to macrophage differentiation, the endosomal/lysosomal proteolytic activity can be regulated by cystatin F whose expression is under the control of transcriptional factor C/EBP alpha.
Title: The transcription factor C/EBP α controls the role of cystatin F during the differentiation of monocytes to macrophages.
Regulation of cathepsins S and L by cystatin F during maturation of dendritic cells.
Title: Regulation of cathepsins S and L by cystatin F during maturation of dendritic cells.
Transgenic cystatin F is expressed in model mice only during demyelination; in chronic demyelination, remyelinating ability is lost.
Title: Microglial cystatin F expression is a sensitive indicator for ongoing demyelination with concurrent remyelination.
Data demonstrate the addition of N-linked sugars to an Asn-X-Cys motif in cystatin F and suggest that the mannose 6-phosphate sorting machinery is used to divert cystatin F from the secretory pathway and to mediate its uptake from extracellular pools.
Title: Glycosylation directs targeting and activation of cystatin f from intracellular and extracellular sources.
A latent protease inhibitor which is itself regulated by proteolysis in the endocytic pathway.
Title: Cystatin F is a cathepsin C-directed protease inhibitor regulated by proteolysis.
analysis of reduction-dependent activation of human cystatin F
Title: Structural basis of reduction-dependent activation of human cystatin F.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cysteine-type endopeptidase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables endopeptidase inhibitor activity	TAS Traceable Author Statement more info	PubMed
enables peptidase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in immune response	IEA Inferred from Electronic Annotation more info
involved_in inhibition of cysteine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of microglial cell activation	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of peptidase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of myelination	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
is_active_in late endosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in lysosome	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in multivesicular body	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cystatin-F

Names: cystatin-7; cystatin-like metastasis-associated protein; leukocystatin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.