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CST9L cystatin 9 like [ Homo sapiens (human) ]

Gene ID: 128821, updated on 18-Sep-2024

Summary

Official Symbol
CST9Lprovided by HGNC
Official Full Name
cystatin 9 likeprovided by HGNC
Primary source
HGNC:HGNC:16233
See related
Ensembl:ENSG00000101435 MIM:616536; AllianceGenome:HGNC:16233
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
CTES7B; bA218C14.1
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 mouse cystatin 9. Based on its testis-specific expression, it is likely to have a role in tissue reorganization during early testis development. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward testis (RPKM 37.7) See more
Orthologs
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Genomic context

See CST9L 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 (23564732..23568484, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (23624266..23628019, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (23545369..23549121, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene cystatin 13, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17642 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:23513598-23514559 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:23515257-23515934 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:23515935-23516610 Neighboring gene cystatin 9-like pseudogene 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:23570170-23570774 Neighboring gene cystatin 9-like pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:23583003-23583504 Neighboring gene cystatin 9

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

Phenotypes

EBI GWAS Catalog

Description
A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study.
EBI GWAS Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of cystatin 9-like (CST9L) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Clone Names

  • FLJ92394

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cysteine-type endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in antimicrobial humoral response IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in negative regulation of peptidase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
cystatin-9-like
Names
testatin
testicular tissue protein Li 45

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_080610.3NP_542177.1  cystatin-9-like precursor

    See identical proteins and their annotated locations for NP_542177.1

    Status: REVIEWED

    Source sequence(s)
    BC029656
    Consensus CDS
    CCDS13157.1
    UniProtKB/Swiss-Prot
    B2R5A1, Q9H4G1
    UniProtKB/TrEMBL
    A0A140VJH1
    Related
    ENSP00000366178.3, ENST00000376979.4
    Conserved Domains (1) summary
    smart00043
    Location:51143
    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
    23564732..23568484 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    23624266..23628019 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)