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CST5 cystatin D [ Homo sapiens (human) ]

Gene ID: 1473, updated on 10-Dec-2024

Summary

Official Symbol
CST5provided by HGNC
Official Full Name
cystatin Dprovided by HGNC
Primary source
HGNC:HGNC:2477
See related
Ensembl:ENSG00000170367 MIM:123858; AllianceGenome:HGNC:2477
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. 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 found in saliva and tears. The encoded protein may play a protective role against proteinases present in the oral cavity. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward salivary gland (RPKM 368.3) See more
Orthologs
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Genomic context

See CST5 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 (23875934..23879748, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (23935655..23939469, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (23856571..23860385, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372575 Neighboring gene cystatin SA Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:23841460-23842268 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:23847423-23847950 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:23848499-23849324 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:23849325-23850150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:23859878-23860707 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:23870192-23870692 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:23898319-23899110 Neighboring gene cystatin pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:23918707-23919207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:23965513-23966509 Neighboring gene gamma-glutamyltransferase light chain 1

Genomic regions, transcripts, and products

Expression

  • 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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis.
EBI GWAS Catalog

Pathways from PubChem

Interactions

General gene information

Clone Names

  • MGC71922

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in cytoplasm  
located_in extracellular exosome PubMed 
located_in extracellular region PubMed 
is_active_in extracellular space  
is_active_in vesicle  

General protein information

Preferred Names
cystatin-D
Names
cystatin 5
cysteine-proteinase inhibitor

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.

mRNA and Protein(s)

  1. NM_001900.5NP_001891.2  cystatin-D precursor

    See identical proteins and their annotated locations for NP_001891.2

    Status: REVIEWED

    Source sequence(s)
    AL591074, BC062678, CB985957
    Consensus CDS
    CCDS13162.1
    UniProtKB/Swiss-Prot
    P28325, Q5JRF5, Q9UCA0
    Related
    ENSP00000307132.4, ENST00000304710.5
    Conserved Domains (1) summary
    smart00043
    Location:29139
    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
    23875934..23879748 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    23935655..23939469 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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