TUSC1 tumor suppressor candidate 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TUSC1provided by HGNC
Official Full Name: tumor suppressor candidate 1provided by HGNC
Primary source: HGNC:HGNC:31010
See related: Ensembl:ENSG00000198680 MIM:610529; AllianceGenome:HGNC:31010
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: TSG9; TSG-9; CCDC89B
Summary: This gene is located within the region of chromosome 9p that harbors tumor suppressor genes critical in carcinogenesis. It is an intronless gene which is downregulated in non-small-cell lung cancer and small-cell lung cancer cell lines, suggesting that it may play a role in lung tumorigenesis. [provided by RefSeq, Jul 2008]
Orthologs: mouse all
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Genomic context

Location:: 9p21.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (25676969..25678444, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (25687486..25688961, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (25676967..25678442, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Circular RNA circ_0065378 upregulates tumor suppressor candidate 1 by competitively binding with miR-4701-5p to alleviate colorectal cancer progression.
Title: Circular RNA circ_0065378 upregulates tumor suppressor candidate 1 by competitively binding with miR-4701-5p to alleviate colorectal cancer progression.
TUSC1 single nucleotide polymorphisms were significantly correlated with azoospermia and/or oligozoospermia in a Japanese population.
Title: Association of TUSC1 and DPF3 gene polymorphisms with male infertility.
The expression of TUSC1 is significantly decreased in glioblastoma brain tumor tissues.
Title: Tumor Suppressor Candidate 1 Suppresses Cell Growth and Predicts Better Survival in Glioblastoma.
TUSC1 is a candidate tumor suppressor gene and intragenic hypermethylation is one of the suppressive mechanisms that regulate TUSC1 transcription in hepatocellular carcinoma.
Title: Identification of intragenic methylation in the TUSC1 gene as a novel prognostic marker of hepatocellular carcinoma.
Results suggested that reduced expression of TUSC1 mRNA was related to poor prognosis and TUSC1 is a putative tumor suppressor gene that is suppressed through intragenic hypermethylation in gastric cancer.
Title: Clinical significance of expression and epigenetic profiling of TUSC1 in gastric cancer.
Results support TUSC1 has tumor suppressor activity as a candidate tumor suppressor gene located on chromosome 9p.
Title: TUSC1, a putative tumor suppressor gene, reduces tumor cell growth in vitro and tumor growth in vivo.
Observational study of gene-disease association. (HuGE Navigator)
Title: Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations.
TUSC1 may play a role in lung tumorigenesis
Title: Identifying novel homozygous deletions by microsatellite analysis and characterization of tumor suppressor candidate 1 gene, TUSC1, on chromosome 9p in human lung cancer.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of sleep habits and insomnia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies candidate genes for male fertility traits in humans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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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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General protein information

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Preferred Names: tumor suppressor candidate gene 1 protein

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.

Genomic

NG_012031.1 RefSeqGene

Range

5415..6890

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001004125.3 → NP_001004125.2 tumor suppressor candidate gene 1 protein

Status: REVIEWED

Source sequence(s)

AL590322

Consensus CDS

CCDS34999.2

UniProtKB/Swiss-Prot

A0PJ78, Q2TAM9, Q67GI3, Q86SS1, Q8TAH8

Related

ENSP00000350716.4, ENST00000358022.6

Conserved Domains (1) summary

cl19252
Location:61 → 115

MreC; rod shape-determining protein MreC