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    CSTL1 cystatin like 1 [ Homo sapiens (human) ]

    Gene ID: 128817, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CSTL1provided by HGNC
    Official Full Name
    cystatin like 1provided by HGNC
    Primary source
    HGNC:HGNC:15958
    See related
    Ensembl:ENSG00000125823 AllianceGenome:HGNC:15958
    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
    mouse all
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    Genomic context

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    See CSTL1 in Genome Data Viewer
    Location:
    20p11.21
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (23439670..23461209)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (23499204..23520744)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (23420307..23441846)

    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 11 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Genomic cloning, physical mapping, and expression of human type 2 cystatin genes. Dickinson DP, et al. Crit Rev Oral Biol Med, 1993. PMID 7690606
    2. Evolution and human tissue expression of the Cres/Testatin subgroup genes, a reproductive tissue specific subgroup of the type 2 cystatins. Frygelius J, et al. Evol Dev, 2010 May-Jun. PMID 20565543
    3. Direct mapping of seven genes encoding human type 2 cystatins to a single site located at 20p11.2. Dickinson DP, et al. Genomics, 1994 Nov 1. PMID 7896273
    4. Cystatin superfamily. Evidence that family II cystatin genes are evolutionarily related to family III cystatin genes. Saitoh E, et al. Biol Chem Hoppe Seyler, 1988 May. PMID 3202964
    5. Friends and relations of the cystatin superfamily--new members and their evolution. Brown WM, et al. Protein Sci, 1997 Jan. PMID 9007972, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cysteine-type endopeptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cysteine-type peptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in signaling receptor ligand precursor processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    cystatin-like 1

    NCBI Reference Sequences (RefSeq)

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    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_138283.1 → NP_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
      Q17RA8, Q64FF7, Q9H114
      Related
      ENSP00000344907.1, ENST00000347397.5
      Conserved Domains (1) summary
      cd00042
      Location:45 → 134
      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: 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_000020.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047439889.1 → XP_047295845.1  cystatin-like 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      23499204..23520744
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322968.1 → XP_054178943.1  cystatin-like 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H114.2 GenPept UniProtKB/Swiss-Prot:Q9H114

    Gene LinkOut

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

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