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    CSTB cystatin B [ Homo sapiens (human) ]

    Gene ID: 1476, updated on 31-Mar-2024

    Summary

    Official Symbol
    CSTBprovided by HGNC
    Official Full Name
    cystatin Bprovided by HGNC
    Primary source
    HGNC:HGNC:2482
    See related
    Ensembl:ENSG00000160213 MIM:601145; AllianceGenome:HGNC:2482
    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
    NEW
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    Genomic context

    See CSTB in Genome Data Viewer
    Location:
    21q22.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (43773950..43776308, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (42129562..42131920, complement)
    105.20220307 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 uncharacterized LOC124905032 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18546 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13364 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13365 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45139703-45140612 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18547 Neighboring gene pyridoxal kinase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45146555-45147396 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45148239-45149080 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45149081-45149922 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45151396-45151896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45152891-45153850 Neighboring gene uncharacterized LOC105372824 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45157073-45157572 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45159504-45160242 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45160243-45160981 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45183829-45184574 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45184575-45185320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45186633-45187246 Neighboring gene PDXK-CSTB intergenic CAGE-defined low expression enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45189831-45190753 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45190754-45191675 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13368 Neighboring gene cystatin B upstream repeat instability region Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45198401-45199200 Neighboring gene uncharacterized LOC105372825 Neighboring gene transmembrane protein 97 pseudogene 1

    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

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in adult locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 

    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)

    NEW Try the new Transcript table

    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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      42129562..42131920 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)