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CST11 cystatin 11 [ Homo sapiens (human) ]

Gene ID: 140880, updated on 1-Jun-2020

Summary

Official Symbol
CST11provided by HGNC
Official Full Name
cystatin 11provided by HGNC
Primary source
HGNC:HGNC:15959
See related
Ensembl:ENSG00000125831 MIM:609731
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
SC13; CST8L; CTES2; dJ322G13.6
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 an epididymal-specific protein shown to have antimicrobial activity against E. coli. Alternative splicing yields two variants encoding distinct isoforms. [provided by RefSeq, Sep 2014]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See CST11 in Genome Data Viewer
Location:
20p11.21
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (23450412..23452876, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (23431041..23433482, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 479 Neighboring gene NSF attachment protein beta Neighboring gene cystatin like 1 Neighboring gene cystatin 12, pseudogene Neighboring gene cystatin 8

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cysteine-type endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
androgen receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
defense response to Gram-negative bacterium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
defense response to Gram-negative bacterium IDA
Inferred from Direct Assay
more info
PubMed 
killing of cells of other organism IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IMP
Inferred from Mutant Phenotype
more info
PubMed 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
sperm flagellum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sperm flagellum IDA
Inferred from Direct Assay
more info
PubMed 
sperm head IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sperm head IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
cystatin-11
Names
SC13delta
cystatin-related epididymal-specific protein
epididymis secretory sperm binding protein

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_080830.3NP_543020.2  cystatin-11 isoform 2 precursor

    See identical proteins and their annotated locations for NP_543020.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal exon, compared to variant 1. The encoded isoform (2) is missing an internal segment, which results in a C-terminal truncation of the cystatin domain compared to isoform 1.
    Source sequence(s)
    AF335481, AL096677
    Consensus CDS
    CCDS13154.1
    UniProtKB/Swiss-Prot
    Q9H112
    Related
    ENSP00000366206.3, ENST00000377007.3
    Conserved Domains (1) summary
    cl09238
    Location:3678
    CY; Cystatin-like domain; Cystatins are a family of cysteine protease inhibitors that occur mainly as single domain proteins. However some extracellular proteins such as kininogen, His-rich glycoprotein and fetuin also contain these domains.
  2. NM_130794.2NP_570612.1  cystatin-11 isoform 1 precursor

    See identical proteins and their annotated locations for NP_570612.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longest transcript, encoding the full-length isoform (1).
    Source sequence(s)
    AF335480, AL096677
    Consensus CDS
    CCDS13155.1
    UniProtKB/Swiss-Prot
    Q9H112
    Related
    ENSP00000366208.3, ENST00000377009.8
    Conserved Domains (1) summary
    smart00043
    Location:53135
    CY; Cystatin-like domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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
    23450412..23452876 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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