CSTL1 cystatin like 1 [Homo sapiens (human)] - Gene

Summary

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

Location:: 20p11.21

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (23439670..23461209)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (23499204..23520744)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (23420307..23441846)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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	IBA Inferred from Biological aspect of Ancestor more info
enables cysteine-type peptidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in negative regulation of peptidase activity	IEA Inferred from Electronic Annotation more info
involved_in signaling receptor ligand precursor processing	IBA Inferred from Biological aspect of Ancestor more info
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)

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

NR_170937.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL096677
NR_170938.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL096677
NR_170939.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL096677, AL109954
NR_170940.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL096677, AL109954
NR_170941.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL096677, AL109954