FAM107A (family with sequence similarity 107, member A)
2011-04-01 Kenji Kadomatsu , Ping Mu AffiliationDepartment of Biochemistry, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan
DNA/RNA
Description
FAM107A DNA contains 17742 bps (genomic size), on negative strand.
Transcription
FAM107A has two transcript variants. FAM107A transcript variant 1 mRNA contains 3465 bps and 5 exons. FAM107A transcript variant 2 mRNA contains 3367 bps and 4 exons. These two transcript variants encode for the same protein.
Proteins
Description
144 amino acids, 17,5 kDa.
FAM107A protein includes a nuclear localization signal (NLS) and a coiled domain (Yamato et al., 1999; Wang et al., 2000).
FAM107A protein includes a nuclear localization signal (NLS) and a coiled domain (Yamato et al., 1999; Wang et al., 2000).
Expression
FAM107A protein is expressed in a wide variety of normal tissues. High expression is found in the brain and heart (Wang et al., 2000; Zhao et al., 2007).
Localisation
Nucleus and cytoplasm (Wang et al., 2000; Zhao et al., 2007; Le et al., 2010).
Function
FAM107A is a candidate tumor suppressor gene. FAM107A protein is downregulated in several tumor cell lines and primary tumors. Overexpression of FAM107A can suppress tumor cell growth (Yamato et al., 1999; Wang et al., 2000; Kholodnyuk et al., 2006; van den Boom et al., 2006; Liu et al., 2009; Asano et al., 2010; Le et al., 2010).
FAM107A protein is also involved in neuronal cell survival. Downregulation of FAM107A protein in primary cultured cortical neurons decrease cell number (Asano et al., 2010).
FAM107A protein probably plays important roles in embryo development (Zhao et al., 2007).
FAM107A protein is a cytoskeletal crosslinker that regulates FA dynamics and cell movement. FAM107A protein is an important molecular in cell invasion (Le et al., 2010).
FAM107A protein is also involved in neuronal cell survival. Downregulation of FAM107A protein in primary cultured cortical neurons decrease cell number (Asano et al., 2010).
FAM107A protein probably plays important roles in embryo development (Zhao et al., 2007).
FAM107A protein is a cytoskeletal crosslinker that regulates FA dynamics and cell movement. FAM107A protein is an important molecular in cell invasion (Le et al., 2010).
Homology
No proteins with significant homology with FAM107A protein were found (Wang et al., 2000).
Mutations
Note
Up to now, no point mutations were identified.
Implicated in
Entity name
Renal cell carcimoma
Disease
Loss of FAM107A gene was found on 3p21.1 in renal cell carcinoma. Reduced expression was found in renal cell carcinoma cell lines and primary renal cell carcinomas. Overexpression of FAM107A in renal cell carcinoma cell line resulted in growth suppression of these cells (Yamato et al., 1999; Wang et al., 2000). Also, FAM107A hypermethylation was detected in renal cell carcimomas and significantly associated with advanced tumor stage (Awakura et al., 2008).
Entity name
Astrocytomas
Disease
FAM107A was expressed at significantly lower levels in secondary glioblastomas as compared to diffuse astrocytomas (Van den Boom et al., 2006).
Entity name
Lung cancer
Disease
Loss of expression of FAM107A was found in non-small cell lung cancer and primary lung cancers. Overexpression of FAM107A in non-small cell lung cancer cell line reduced cell proliferation activity and induced apoptosis (Liu et al., 2009).
Entity name
Neuroblastoma
Disease
FAM107A protein was detected in the normal ganglions and the ganglions exhibiting neuroblast hyperplasia from 2 weeks hemizygote MYCN transgenic mice. However, the expression of FAM107A completely disappeared in the tumors from 8 weeks hemizygote MYCN transgenic mice (Asano et al., 2010).
Entity name
Brain tumor
Disease
FAM107A is not expressed in normal glial cells, it is highly expressed in the invasive component of gliomas. It was found that FAM107A associates with and organizes the actin and microtubular cytoskeletons. FAM107A regulates focal adhesion disassembly and cell invasion (Le et al., 2010).
Entity name
Embryo development
Note
The expression level of FAM107A gene increases gradually with embryo development in the early stages (Zhao et al., 2007).
Entity name
Schizophrenia and bipolar disorder
Note
High expression level of FAM107A was found in the dorsolateral prefrontal cortex from schizophrenia and bipolar disorder patient (Shao et al., 2007).
Entity name
Neuronal cell survival
Note
FAM107A protein was mainly localized in the neurites of the primary culture of cerebral cortical neurons. Downregulation of FAM107A expression with siRNA decreased neuron cell number. These data suggest that FAM107A plays a critical role in neuronal cell survival (Asano et al., 2010).
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 20298674 | 2010 | DRR1 is expressed in the developing nervous system and downregulated during neuroblastoma carcinogenesis. | Asano Y et al |
| 18813805 | 2008 | Methylation-associated silencing of TU3A in human cancers. | Awakura Y et al |
| 20525385 | 2010 | Prednisolone-induced differential gene expression in mouse liver carrying wild type or a dimerization-defective glucocorticoid receptor. | Frijters R et al |
| 16432833 | 2006 | Down regulation of 3p genes, LTF, SLC38A3 and DRR1, upon growth of human chromosome 3-mouse fibrosarcoma hybrids in severe combined immunodeficiency mice. | Kholodnyuk ID et al |
| 20543869 | 2010 | DRR drives brain cancer invasion by regulating cytoskeletal-focal adhesion dynamics. | Le PU et al |
| 19787223 | 2009 | Induction of tumor inhibition and apoptosis by a candidate tumor suppressor gene DRR1 on 3p21.1. | Liu Q et al |
| 18191109 | 2008 | Shared gene expression alterations in schizophrenia and bipolar disorder. | Shao L et al |
| 10564580 | 2000 | Loss of expression of the DRR 1 gene at chromosomal segment 3p21.1 in renal cell carcinoma. | Wang L et al |
| 10702698 | 1999 | Isolation and characterization of the novel gene, TU3A, in a commonly deleted region on 3p14.3-->p14.2 in renal cell carcinoma. | Yamato T et al |
| 17523919 | 2008 | Soluble expression of human DRR1 (down-regulated in renal cell carcinoma 1) in Escherichia coli and preparation of its polyclonal antibodies. | Zhao XY et al |
| 17637457 | 2007 | Identification and preliminary function study of Xenopus laevis DRR1 gene. | Zhao XY et al |
| 16865689 | 2006 | Identification of novel genes associated with astrocytoma progression using suppression subtractive hybridization and real-time reverse transcription-polymerase chain reaction. | van den Boom J et al |
Other Information
Locus ID:
NCBI: 11170
MIM: 608295
HGNC: 30827
Ensembl: ENSG00000168309
Variants:
dbSNP: 11170
ClinVar: 11170
TCGA: ENSG00000168309
COSMIC: FAM107A
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37977035 | 2023 | FAM107A as a tumor suppressor in esophageal squamous carcinoma inhibits growth and metastasis. | 0 |
| 37977035 | 2023 | FAM107A as a tumor suppressor in esophageal squamous carcinoma inhibits growth and metastasis. | 0 |
| 35414505 | 2022 | FAM107A as a Tumor Suppressor in Bladder Cancer Inhibits Cell Proliferation, Migration, and Invasion. | 2 |
| 35414505 | 2022 | FAM107A as a Tumor Suppressor in Bladder Cancer Inhibits Cell Proliferation, Migration, and Invasion. | 2 |
| 33831429 | 2021 | Transcription factor SP1-induced microRNA-146b-3p facilitates the progression and metastasis of colorectal cancer via regulating FAM107A. | 12 |
| 33831429 | 2021 | Transcription factor SP1-induced microRNA-146b-3p facilitates the progression and metastasis of colorectal cancer via regulating FAM107A. | 12 |
| 30446454 | 2019 | Diagnostic value of combined IQGAP3/BMP4 and IQGAP3/FAM107A expression ratios in urinary cell-free DNA for discriminating bladder cancer from hematuria. | 7 |
| 30446454 | 2019 | Diagnostic value of combined IQGAP3/BMP4 and IQGAP3/FAM107A expression ratios in urinary cell-free DNA for discriminating bladder cancer from hematuria. | 7 |
| 29548818 | 2018 | DRR1 promotes glioblastoma cell invasion and epithelial-mesenchymal transition via regulating AKT activation. | 20 |
| 29548818 | 2018 | DRR1 promotes glioblastoma cell invasion and epithelial-mesenchymal transition via regulating AKT activation. | 20 |
| 28604741 | 2017 | A novel nuclear complex of DRR1, F-actin and COMMD1 involved in NF-κB degradation and cell growth suppression in neuroblastoma. | 17 |
| 28710449 | 2017 | Combined deletion and DNA methylation result in silencing of FAM107A gene in laryngeal tumors. | 10 |
| 28604741 | 2017 | A novel nuclear complex of DRR1, F-actin and COMMD1 involved in NF-κB degradation and cell growth suppression in neuroblastoma. | 17 |
| 28710449 | 2017 | Combined deletion and DNA methylation result in silencing of FAM107A gene in laryngeal tumors. | 10 |
| 25753555 | 2015 | Decreased FAM107A Expression in Patients with Non-small Cell Lung Cancer. | 14 |
Citation
Kenji Kadomatsu ; Ping Mu
FAM107A (family with sequence similarity 107, member A)
Atlas Genet Cytogenet Oncol Haematol. 2011-04-01
Online version: http://atlasgeneticsoncology.org/gene/42728/fam107a
