U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

CST11 cystatin 11 [ Homo sapiens (human) ]

Gene ID: 140880, updated on 10-Dec-2024

Summary

Go to the top of the page Help
Official Symbol
CST11provided by HGNC
Official Full Name
cystatin 11provided by HGNC
Primary source
HGNC:HGNC:15959
See related
Ensembl:ENSG00000125831 MIM:609731; AllianceGenome:HGNC:15959
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
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See CST11 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 (23450412..23452876, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (23509944..23512411, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (23431049..23433513, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12727 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17636 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12728 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17637 Neighboring gene GDNF inducible zinc finger protein 1 Neighboring gene RNA, 5S ribosomal pseudogene 479 Neighboring gene NSF attachment protein beta Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:23372358-23372897 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17638 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17639 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12729 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12730 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17640 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:23406421-23407128 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:23423063-23423642 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12731 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12732 Neighboring gene cystatin like 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:23453588-23454206 Neighboring gene Sharpr-MPRA regulatory region 1881 Neighboring gene cystatin 12, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:23471218-23471718 Neighboring gene cystatin 8

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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 androgen receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in defense response to Gram-negative bacterium IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in defense response to Gram-negative bacterium IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in killing of cells of another organism IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
is_active_in sperm flagellum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in sperm flagellum IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in sperm head IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in sperm head IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
cystatin-11
Names
SC13delta
cystatin-related epididymal-specific protein
epididymis secretory sperm binding protein

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_080830.3 → NP_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:36 → 78
    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_130794.2 → NP_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
    Q0VAF2, Q0VAF3, Q8WXU5, Q8WXU6, Q9H112, Q9H113
    UniProtKB/TrEMBL
    A0A384P5Z6
    Related
    ENSP00000366208.3, ENST00000377009.8
    Conserved Domains (1) summary
    smart00043
    Location:53 → 135
    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
    23450412..23452876 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    23509944..23512411 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H112.2 GenPept UniProtKB/Swiss-Prot:Q9H112

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools