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CSTB cystatin B [ Homo sapiens (human) ]

Gene ID: 1476, updated on 19-Sep-2021

Summary

Official Symbol
CSTBprovided by HGNC
Official Full Name
cystatin Bprovided by HGNC
Primary source
HGNC:HGNC:2482
See related
Ensembl:ENSG00000160213 MIM:601145
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
PME; ULD; CST6; EPM1; STFB; CPI-B; EPM1A
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 kininogens. This gene encodes a stefin that functions as an intracellular thiol protease inhibitor. The protein is able to form a dimer stabilized by noncovalent forces, inhibiting papain and cathepsins l, h and b. The protein is thought to play a role in protecting against the proteases leaking from lysosomes. Evidence indicates that mutations in this gene are responsible for the primary defects in patients with progressive myoclonic epilepsy (EPM1). One type of mutation responsible for EPM1 is the expansion in the promoter region of this gene of a CCCCGCCCCGCG repeat from 2-3 copies to 30-78 copies. [provided by RefSeq, Jul 2016]
Expression
Biased expression in esophagus (RPKM 2096.4) and urinary bladder (RPKM 80.5) See more
Orthologs
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Genomic context

See CSTB in Genome Data Viewer
Location:
21q22.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (43773950..43776308, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (45193831..45196189, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene pyridoxal kinase Neighboring gene uncharacterized LOC105372824 Neighboring gene PDXK-CSTB intergenic CAGE-defined low expression enhancer Neighboring gene cystatin B upstream repeat instability region Neighboring gene uncharacterized LOC105372825

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?

HIV-1 interactions

Replication interactions

Interaction Pubs
HIV-1 infection upregulates cathepsin B, cystatin B, and cystatin C in the frontal white matter of patients with HIV-Associated Neurocognitive Disorders PubMed
HIV-1 infection upregulates cystatin B (CSTB) in microglia PubMed
HIV-1 replication requires CSTB (cystatin B) expression as shown through siRNA knockdown PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

General protein information

Preferred Names
cystatin-B
Names
cystatin B (stefin B)
epididymis secretory sperm binding protein
liver thiol 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.

Genomic

  1. NG_011545.1 RefSeqGene

    Range
    5004..7714
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_485

mRNA and Protein(s)

  1. NM_000100.4NP_000091.1  cystatin-B

    See identical proteins and their annotated locations for NP_000091.1

    Status: REVIEWED

    Source sequence(s)
    BC003370
    Consensus CDS
    CCDS13701.1
    UniProtKB/Swiss-Prot
    P04080
    UniProtKB/TrEMBL
    Q76LA1
    Related
    ENSP00000291568.6, ENST00000291568.7
    Conserved Domains (1) summary
    pfam00031
    Location:492
    Cystatin; Cystatin domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    43773950..43776308 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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