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FAM107A (family with sequence similarity 107, member A)

Written2011-04Kenji Kadomatsu, Ping Mu
Department of Biochemistry, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan

(Note : for Links provided by Atlas : click)

Identity

Alias_namesfamily with sequence similarity 107
Alias_symbol (synonym)DRR1
TU3A
Other aliasFLJ30158
FLJ45473
HGNC (Hugo) FAM107A
LocusID (NCBI) 11170
Atlas_Id 42728
Location 3p14.3  [Link to chromosome band 3p14]
Location_base_pair Starts at 58564112 and ends at 58577764 bp from pter ( according to hg19-Feb_2009)  [Mapping FAM107A.png]
Fusion genes
(updated 2016)
FAM107A (3p14.3) / SRD5A2 (2p23.1)NCKAP1 (2q32.1) / FAM107A (3p14.3)
Note The FAM107A protein is encoded by FAM107A gene.

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.

Protein

 
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).
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).
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

Note
  
Entity 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 Astrocytomas
Disease FAM107A was expressed at significantly lower levels in secondary glioblastomas as compared to diffuse astrocytomas (Van den Boom et al., 2006).
  
  
Entity 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 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 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 Embryo development
Note The expression level of FAM107A gene increases gradually with embryo development in the early stages (Zhao et al., 2007).
  
  
Entity 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 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).
  

Bibliography

DRR1 is expressed in the developing nervous system and downregulated during neuroblastoma carcinogenesis.
Asano Y, Kishida S, Mu P, Sakamoto K, Murohara T, Kadomatsu K.
Biochem Biophys Res Commun. 2010 Apr 9;394(3):829-35. Epub 2010 Mar 16.
PMID 20298674
 
Methylation-associated silencing of TU3A in human cancers.
Awakura Y, Nakamura E, Ito N, Kamoto T, Ogawa O.
Int J Oncol. 2008 Oct;33(4):893-9.
PMID 18813805
 
Prednisolone-induced differential gene expression in mouse liver carrying wild type or a dimerization-defective glucocorticoid receptor.
Frijters R, Fleuren W, Toonen EJ, Tuckermann JP, Reichardt HM, van der Maaden H, van Elsas A, van Lierop MJ, Dokter W, de Vlieg J, Alkema W.
BMC Genomics. 2010 Jun 5;11:359.
PMID 20525385
 
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, Kozireva S, Kost-Alimova M, Kashuba V, Klein G, Imreh S.
Int J Cancer. 2006 Jul 1;119(1):99-107.
PMID 16432833
 
DRR drives brain cancer invasion by regulating cytoskeletal-focal adhesion dynamics.
Le PU, Angers-Loustau A, de Oliveira RM, Ajlan A, Brassard CL, Dudley A, Brent H, Siu V, Trinh G, Molenkamp G, Wang J, Seyed Sadr M, Bedell B, Del Maestro RF, Petrecca K.
Oncogene. 2010 Aug 19;29(33):4636-47. Epub 2010 Jun 14.
PMID 20543869
 
Induction of tumor inhibition and apoptosis by a candidate tumor suppressor gene DRR1 on 3p21.1.
Liu Q, Zhao XY, Bai RZ, Liang SF, Nie CL, Yuan Z, Wang CT, Wu Y, Chen LJ, Wei YQ.
Oncol Rep. 2009 Nov;22(5):1069-75.
PMID 19787223
 
Shared gene expression alterations in schizophrenia and bipolar disorder.
Shao L, Vawter MP.
Biol Psychiatry. 2008 Jul 15;64(2):89-97. Epub 2008 Jan 11.
PMID 18191109
 
Loss of expression of the DRR 1 gene at chromosomal segment 3p21.1 in renal cell carcinoma.
Wang L, Darling J, Zhang JS, Liu W, Qian J, Bostwick D, Hartmann L, Jenkins R, Bardenhauer W, Schutte J, Opalka B, Smith DI.
Genes Chromosomes Cancer. 2000 Jan;27(1):1-10.
PMID 10564580
 
Isolation and characterization of the novel gene, TU3A, in a commonly deleted region on 3p14.3-->p14.2 in renal cell carcinoma.
Yamato T, Orikasa K, Fukushige S, Orikasa S, Horii A.
Cytogenet Cell Genet. 1999;87(3-4):291-5.
PMID 10702698
 
Soluble expression of human DRR1 (down-regulated in renal cell carcinoma 1) in Escherichia coli and preparation of its polyclonal antibodies.
Zhao XY, Li HX, Liang SF, Yuan Z, Yan F, Ruan XZ, You J, Xiong SQ, Tang MH, Wei YQ.
Biotechnol Appl Biochem. 2008 Jan;49(Pt 1):17-23.
PMID 17523919
 
Identification and preliminary function study of Xenopus laevis DRR1 gene.
Zhao XY, Liang SF, Yao SH, Ma FX, Hu ZG, Yan F, Yuan Z, Ruan XZ, Yang HS, Zhou Q, Wei YQ.
Biochem Biophys Res Commun. 2007 Sep 14;361(1):74-8. Epub 2007 Jul 10.
PMID 17637457
 
Identification of novel genes associated with astrocytoma progression using suppression subtractive hybridization and real-time reverse transcription-polymerase chain reaction.
van den Boom J, Wolter M, Blaschke B, Knobbe CB, Reifenberger G.
Int J Cancer. 2006 Nov 15;119(10):2330-8.
PMID 16865689
 

Citation

This paper should be referenced as such :
Kadomatsu, K ; Mu, P
FAM107A (family with sequence similarity 107, member A)
Atlas Genet Cytogenet Oncol Haematol. 2011;15(11):918-920.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/FAM107AID42728ch3p14.html


External links

Nomenclature
HGNC (Hugo)FAM107A   30827
Cards
AtlasFAM107AID42728ch3p14
Entrez_Gene (NCBI)FAM107A  11170  family with sequence similarity 107 member A
AliasesDRR1; TU3A
GeneCards (Weizmann)FAM107A
Ensembl hg19 (Hinxton)ENSG00000168309 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168309 [Gene_View]  chr3:58564112-58577764 [Contig_View]  FAM107A [Vega]
ICGC DataPortalENSG00000168309
TCGA cBioPortalFAM107A
AceView (NCBI)FAM107A
Genatlas (Paris)FAM107A
WikiGenes11170
SOURCE (Princeton)FAM107A
Genetics Home Reference (NIH)FAM107A
Genomic and cartography
GoldenPath hg38 (UCSC)FAM107A  -     chr3:58564112-58577764 -  3p14.3-p14.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FAM107A  -     3p14.3-p14.2   [Description]    (hg19-Feb_2009)
EnsemblFAM107A - 3p14.3-p14.2 [CytoView hg19]  FAM107A - 3p14.3-p14.2 [CytoView hg38]
Mapping of homologs : NCBIFAM107A [Mapview hg19]  FAM107A [Mapview hg38]
OMIM608295   
Gene and transcription
Genbank (Entrez)AB023811 AF035283 AF089853 AF089854 AK054720
RefSeq transcript (Entrez)NM_001076778 NM_001282713 NM_001282714 NM_007177
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FAM107A
Cluster EST : UnigeneHs.729396 [ NCBI ]
CGAP (NCI)Hs.729396
Alternative Splicing GalleryENSG00000168309
Gene ExpressionFAM107A [ NCBI-GEO ]   FAM107A [ EBI - ARRAY_EXPRESS ]   FAM107A [ SEEK ]   FAM107A [ MEM ]
Gene Expression Viewer (FireBrowse)FAM107A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11170
GTEX Portal (Tissue expression)FAM107A
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95990   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95990  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95990
Splice isoforms : SwissVarO95990
PhosPhoSitePlusO95990
Domains : Interpro (EBI)DUF1151   
Domain families : Pfam (Sanger)DUF1151 (PF06625)   
Domain families : Pfam (NCBI)pfam06625   
Conserved Domain (NCBI)FAM107A
DMDM Disease mutations11170
Blocks (Seattle)FAM107A
SuperfamilyO95990
Human Protein AtlasENSG00000168309
Peptide AtlasO95990
HPRD09753
IPIIPI00939783   IPI00043668   IPI00793114   IPI00978145   IPI00984793   
Protein Interaction databases
DIP (DOE-UCLA)O95990
IntAct (EBI)O95990
FunCoupENSG00000168309
BioGRIDFAM107A
STRING (EMBL)FAM107A
ZODIACFAM107A
Ontologies - Pathways
QuickGOO95990
Ontology : AmiGOregulation of cell growth  molecular_function  nucleus  nuclear speck  neuron projection  
Ontology : EGO-EBIregulation of cell growth  molecular_function  nucleus  nuclear speck  neuron projection  
NDEx NetworkFAM107A
Atlas of Cancer Signalling NetworkFAM107A
Wikipedia pathwaysFAM107A
Orthology - Evolution
OrthoDB11170
GeneTree (enSembl)ENSG00000168309
Phylogenetic Trees/Animal Genes : TreeFamFAM107A
HOVERGENO95990
HOGENOMO95990
Homologs : HomoloGeneFAM107A
Homology/Alignments : Family Browser (UCSC)FAM107A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFAM107A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FAM107A
dbVarFAM107A
ClinVarFAM107A
1000_GenomesFAM107A 
Exome Variant ServerFAM107A
ExAC (Exome Aggregation Consortium)FAM107A (select the gene name)
Genetic variants : HAPMAP11170
Genomic Variants (DGV)FAM107A [DGVbeta]
DECIPHERFAM107A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFAM107A 
Mutations
ICGC Data PortalFAM107A 
TCGA Data PortalFAM107A 
Broad Tumor PortalFAM107A
OASIS PortalFAM107A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFAM107A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFAM107A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch FAM107A
DgiDB (Drug Gene Interaction Database)FAM107A
DoCM (Curated mutations)FAM107A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FAM107A (select a term)
intoGenFAM107A
NCG5 (London)FAM107A
Cancer3DFAM107A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608295   
Orphanet
MedgenFAM107A
Genetic Testing Registry FAM107A
NextProtO95990 [Medical]
TSGene11170
GENETestsFAM107A
Target ValidationFAM107A
Huge Navigator FAM107A [HugePedia]
snp3D : Map Gene to Disease11170
BioCentury BCIQFAM107A
ClinGenFAM107A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11170
Chemical/Pharm GKB GenePA143485464
Clinical trialFAM107A
Miscellaneous
canSAR (ICR)FAM107A (select the gene name)
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFAM107A
EVEXFAM107A
GoPubMedFAM107A
iHOPFAM107A
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:26:04 CEST 2017

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