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CST1 cystatin SN [ Homo sapiens (human) ]

Gene ID: 1469, updated on 3-May-2025
Official Symbol
CST1provided by HGNC
Official Full Name
cystatin SNprovided by HGNC
Primary source
HGNC:HGNC:2473
See related
Ensembl:ENSG00000170373 MIM:123855; AllianceGenome:HGNC:2473
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
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, where they appear to provide protective functions. 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 cysteine proteinase inhibitor found in saliva, tears, urine, and seminal fluid. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward salivary gland (RPKM 7300.7) See more
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See CST1 in Genome Data Viewer
Location:
20p11.21
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (23747562..23750935, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (23807126..23810499, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (23728199..23731572, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372574 Neighboring gene uncharacterized LOC124904966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:23732812-23733326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:23733327-23733840 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:23737199-23737949 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:23745064-23745928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:23756477-23756977 Neighboring gene cystatin pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12735 Neighboring gene uncharacterized LOC107985432

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
Products Interactant Other Gene Complex Source Pubs Description

Markers

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 cysteine-type endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
enables cysteine-type endopeptidase inhibitor activity TAS
Traceable Author Statement
more info
PubMed 
enables peptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular space HDA 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 vesicle IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
cystatin-SN
Names
cystain-SA-I
cystatin 1
cystatin SA-I
cysteine proteinase inhibitor, type 2 family
salivary cystatin-SA-1

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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.

mRNA and Protein(s)

  1. NM_001898.3NP_001889.2  cystatin-SN precursor

    See identical proteins and their annotated locations for NP_001889.2

    Status: REVIEWED

    Source sequence(s)
    AL591074, BC021225
    Consensus CDS
    CCDS13160.1
    UniProtKB/Swiss-Prot
    P01037, Q96LE6, Q9UCQ6
    Related
    ENSP00000305731.2, ENST00000304749.7
    Conserved Domains (1) summary
    smart00043
    Location:30139
    CY; Cystatin-like domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    23747562..23750935 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    23807126..23810499 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)