Format

Send to:

Choose Destination

CST8 cystatin 8 [ Homo sapiens (human) ]

Gene ID: 10047, updated on 11-Jun-2021

Summary

Official Symbol
CST8provided by HGNC
Official Full Name
cystatin 8provided by HGNC
Primary source
HGNC:HGNC:2480
See related
Ensembl:ENSG00000125815 MIM:608683
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
CRES; CTES5
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 similar to type 2 cystatins. The encoded protein exhibits highly tissue-specific expression in the reproductive tract, suggesting implicit roles in reproduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Expression
Restricted expression toward testis (RPKM 2.7) See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See CST8 in Genome Data Viewer
Location:
20p11.21
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (23491077..23507124)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (23471754..23476647)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene cystatin like 1 Neighboring gene cystatin 11 Neighboring gene cystatin 12, pseudogene Neighboring gene cystatin 13, pseudogene Neighboring gene cystatin 9-like 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?

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cysteine-type endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cell surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in extracellular region IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
cystatin-8
Names
cystatin 8 (cystatin-related epididymal specific)
cystatin-related epididymal spermatogenic protein
epididymis secretory sperm binding protein

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.

mRNA and Protein(s)

  1. NM_001281730.2NP_001268659.1  cystatin-8 precursor

    See identical proteins and their annotated locations for NP_001268659.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AA436982, AL109954, AW665128, BX096109
    Consensus CDS
    CCDS13156.1
    UniProtKB/Swiss-Prot
    O60676
    Related
    ENSP00000399144.1, ENST00000449810.5
    Conserved Domains (1) summary
    smart00043
    Location:35140
    CY; Cystatin-like domain
  2. NM_005492.4NP_005483.1  cystatin-8 precursor

    See identical proteins and their annotated locations for NP_005483.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AA436982, AF059244, AL109954, AW665128
    Consensus CDS
    CCDS13156.1
    UniProtKB/Swiss-Prot
    O60676
    Related
    ENSP00000246012.1, ENST00000246012.2
    Conserved Domains (1) summary
    smart00043
    Location:35140
    CY; Cystatin-like 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_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    23491077..23507124
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_937016.2 RNA Sequence

  2. XR_937015.2 RNA Sequence

  3. XR_937018.2 RNA Sequence

  4. XR_001754109.1 RNA Sequence

  5. XR_937017.2 RNA Sequence

  6. XR_937019.2 RNA Sequence

Support Center