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CSTL1 cystatin like 1 [ Homo sapiens (human) ]

Gene ID: 128817, updated on 24-Nov-2020

Summary

Official Symbol
CSTL1provided by HGNC
Official Full Name
cystatin like 1provided by HGNC
Primary source
HGNC:HGNC:15958
See related
Ensembl:ENSG00000125823
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
CTES1; RCET11; dJ322G13.4
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 at the telomeric end of the cystatin locus and encodes a type 2 cystatin-like protein. The specific function of this protein has not been determined. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward testis (RPKM 1.9) See more
Orthologs

Genomic context

See CSTL1 in Genome Data Viewer
Location:
20p11.21
Exon count:
10
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (23439670..23461209)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (23420322..23425567)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene GDNF inducible zinc finger protein 1 Neighboring gene RNA, 5S ribosomal pseudogene 479 Neighboring gene NSF attachment protein beta Neighboring gene cystatin 11 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

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
negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular region IEA
Inferred from Electronic Annotation
more info
 

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_138283.1NP_612140.1  cystatin-like 1 precursor

    See identical proteins and their annotated locations for NP_612140.1

    Status: REVIEWED

    Source sequence(s)
    AY707749
    Consensus CDS
    CCDS13153.1
    UniProtKB/Swiss-Prot
    Q9H114
    Related
    ENSP00000344907.1, ENST00000347397.5
    Conserved Domains (1) summary
    cd00042
    Location:45134
    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.

RNA

  1. NR_170937.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL096677
  2. NR_170938.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL096677
  3. NR_170939.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL096677, AL109954
  4. NR_170940.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL096677, AL109954
  5. NR_170941.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL096677, AL109954

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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
    23439670..23461209
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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