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CST1 cystatin SN [ Homo sapiens (human) ]

Gene ID: 1469, updated on 24-Nov-2020

Summary

Official Symbol
CST1provided by HGNC
Official Full Name
cystatin SNprovided by HGNC
Primary source
HGNC:HGNC:2473
See related
Ensembl:ENSG00000170373 MIM:123855
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

Genomic context

See CST1 in Genome Data Viewer
Location:
20p11.21
Exon count:
3
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (23747562..23750935, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (23728190..23731574, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene cystatin SA pseudogene 1 Neighboring gene uncharacterized LOC105372574 Neighboring gene cystatin pseudogene 2 Neighboring gene uncharacterized LOC107985432

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

Preferred Names
cystatin-SN
Names
cystain-SA-I
cystatin 1
cystatin SA-I
cysteine proteinase inhibitor, type 2 family
salivary cystatin-SA-1

NCBI Reference Sequences (RefSeq)

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
    Related
    ENSP00000305731.2, ENST00000304749.6
    Conserved Domains (1) summary
    smart00043
    Location:30139
    CY; Cystatin-like domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

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