TSKU tsukushi, small leucine rich proteoglycan [Homo sapiens (human)] - Gene

Summary

Official Symbol: TSKUprovided by HGNC
Official Full Name: tsukushi, small leucine rich proteoglycanprovided by HGNC
Primary source: HGNC:HGNC:28850
See related: Ensembl:ENSG00000182704 MIM:608015; AllianceGenome:HGNC:28850
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TSK; E2IG4; LRRC54
Summary: Predicted to enable transforming growth factor beta binding activity. Predicted to be involved in several processes, including cholesterol efflux; cholesterol homeostasis; and nervous system development. Predicted to act upstream of or within several processes, including ciliary body morphogenesis; negative regulation of Wnt signaling pathway; and telencephalon development. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in liver (RPKM 39.4), fat (RPKM 26.7) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.5

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (76782280..76798144)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (76712593..76728455)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (76493324..76509188)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Tsukushi and TSKU genotype in obesity and related metabolic disorders.
Title: Tsukushi and TSKU genotype in obesity and related metabolic disorders.
Novel roles of Tsukushi in signaling pathways and multiple disease processes.
Title: Novel roles of Tsukushi in signaling pathways and multiple disease processes.
Gastric banding-associated weight loss diminishes hepatic Tsukushi expression.
Title: Gastric banding-associated weight loss diminishes hepatic Tsukushi expression.
Elevated Serum Tsukushi Levels in Patients With Hyperthyroidism.
Title: Elevated Serum Tsukushi Levels in Patients With Hyperthyroidism.
The hepatokine Tsukushi is released in response to NAFLD and impacts cholesterol homeostasis.
Title: The hepatokine Tsukushi is released in response to NAFLD and impacts cholesterol homeostasis.
in lung cancer cells, TSK is expressed more highly than the other small leucine-rich repeat proteoglycan family members, and regulates the epithelial-mesenchymal transition and cell proliferation
Title: Significance of Tsukushi in lung cancer.
Among its predicted target genes down-regulated by miR-2110, knockdown of Tsukushi (TSKU) expression showed the most potent effect in inducing cell differentiation and reducing cell survival, suggesting that TSKU protein plays a key role in mediating the functions of miR-2110. Low tumor miR-2110 levels were significantly correlated with high tumor TSKU mRNA levels.
Title: microRNA-2110 functions as an onco-suppressor in neuroblastoma by directly targeting Tsukushi.
TSK controls the hair cycle by regulating TGF-beta1 signaling.
Title: Tsukushi controls the hair cycle by regulating TGF-β1 signaling.
The spatio-temporal expression of Decorin, Semaphorin6D, SPARC, Spry-1 and Tsukushi in developing prostate is described and observed similar mesenchymal expression patterns in rat and human.
Title: Stromal expression of decorin, Semaphorin6D, SPARC, Sprouty1 and Tsukushi in developing prostate and decreased levels of decorin in prostate cancer.

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Phenotypes

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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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Markers

D1S3693 (e-PCR)
- UniSTS:474271

RH36843 (e-PCR)
- UniSTS:85940

STS-AA009735 (e-PCR)
- UniSTS:32486

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables transforming growth factor beta binding	IBA Inferred from Biological aspect of Ancestor more info
enables transforming growth factor beta binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within anterior commissure morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in bone growth	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within camera-type eye development	ISS Inferred from Sequence or Structural Similarity more info
involved_in cholesterol efflux	ISS Inferred from Sequence or Structural Similarity more info
involved_in cholesterol homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cholesterol metabolic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within ciliary body morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in corpus callosum morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in energy homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in growth plate cartilage chondrocyte development	ISS Inferred from Sequence or Structural Similarity more info
involved_in hippocampus development	ISS Inferred from Sequence or Structural Similarity more info
involved_in immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in inner ear receptor cell stereocilium organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in lateral ventricle development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of Wnt signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of myofibroblast differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of neuron projection development	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transforming growth factor beta1 production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of hair cycle	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in transforming growth factor beta receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in wound healing	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: tsukushi

Names: E2-induced gene 4 protein; leucine rich repeat containing 54; leucine-rich repeat-containing protein 54; tsukushi homolog; tsukushi small leucine rich proteoglycan homolog; tsukushin

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_001258210.2 → NP_001245139.1 tsukushi isoform b precursor

See identical proteins and their annotated locations for NP_001245139.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 3. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 1, 2, 4, and 5 all encode isoform b.

Source sequence(s)

AP003119, BC020975, DB199776

Consensus CDS

CCDS8246.1

UniProtKB/Swiss-Prot

B3KQT7, Q6UXK1, Q8WUA8, Q9UG10, Q9UJX9

UniProtKB/TrEMBL

B3KRF9

Related

ENSP00000482145.1, ENST00000612930.1

Conserved Domains (3) summary

cd00116
Location:38 → 291

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00033
Location:62 → 85

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:89 → 143

LRR_8; Leucine rich repeat
NM_001318477.2 → NP_001305406.1 tsukushi isoform a precursor

Status: VALIDATED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes the longer isoform (a).

Source sequence(s)

AK126536, AP003119, BC020975

UniProtKB/TrEMBL

B3KRF9

Conserved Domains (3) summary

cd00116
Location:52 → 305

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00033
Location:76 → 99

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:103 → 157

LRR_8; Leucine rich repeat
NM_001318478.2 → NP_001305407.1 tsukushi isoform b precursor

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 3. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 1, 2, 4, and 5 all encode isoform b.

Source sequence(s)

BC020975, DA623614

Consensus CDS

CCDS8246.1

UniProtKB/Swiss-Prot

B3KQT7, Q6UXK1, Q8WUA8, Q9UG10, Q9UJX9

UniProtKB/TrEMBL

B3KRF9

Conserved Domains (3) summary

cd00116
Location:38 → 291

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00033
Location:62 → 85

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:89 → 143

LRR_8; Leucine rich repeat
NM_001318479.2 → NP_001305408.1 tsukushi isoform b precursor

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 3. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 1, 2, 4, and 5 all encode isoform b.

Source sequence(s)

BC020975, DA879213

Consensus CDS

CCDS8246.1

UniProtKB/Swiss-Prot

B3KQT7, Q6UXK1, Q8WUA8, Q9UG10, Q9UJX9

UniProtKB/TrEMBL

B3KRF9

Related

ENSP00000434847.1, ENST00000527881.1

Conserved Domains (3) summary

cd00116
Location:38 → 291

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00033
Location:62 → 85

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:89 → 143

LRR_8; Leucine rich repeat
NM_015516.4 → NP_056331.2 tsukushi isoform b precursor

See identical proteins and their annotated locations for NP_056331.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) differs in the 5' UTR and coding sequence compared to variant 3. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 1, 2, 4, and 5 all encode isoform b.

Source sequence(s)

AK091475, BC020975

Consensus CDS

CCDS8246.1

UniProtKB/Swiss-Prot

B3KQT7, Q6UXK1, Q8WUA8, Q9UG10, Q9UJX9

UniProtKB/TrEMBL

B3KRF9

Related

ENSP00000332668.4, ENST00000333090.5

Conserved Domains (3) summary

cd00116
Location:38 → 291

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00033
Location:62 → 85

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:89 → 143

LRR_8; Leucine rich repeat