FAM57A (family with sequence similarity 57, member A)

Written2010-08Zhiao Chen, Xianghuo He
State Key Laboratory of Oncogenes, Related Genes, Shanghai Cancer Institute, Shanghai, China

(Note : for Links provided by Atlas : click)

1. Identity

General Information
Alias_symbol (synonym)FLJ22282
Other alias
HGNC (Hugo) FAM57A
LocusID (NCBI) 79850
Atlas_Id 40183
Location 17p13.3  [Link to chromosome band 17p13]
Location_base_pair Starts at 732546 and ends at 742968 bp from pter ( according to hg19-Feb_2009)  [Mapping FAM57A.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
FAM57A (17p13.3) / FAM57A (17p13.3)PPIF (10q22.3) / FAM57A (17p13.3)


Description Gene size: 2145 bp in length, ORF 774 bp.
Full-length cDNA of CT120/FAM57A contains 2145 base pairs and encodes a protein with 257 amino acids.
Transcription The CT120 contains two isoforms in human: one isoform identified was termed CT120A; another isoform (AAH26023.1) was named CT120B, which consists of four exons and encodes a protein with 225 amino acids (the fourth exon in CT120A is spliced).

3. Protein

Description - CT120: 257 aa; 29 kDa.
- CT120B: 225 aa; 25 kDa.
Expression CT120 is universally expressed in different human normal tissues and in various human tumor cell lines.
Localisation CT120 is a novel plasma membrane-associated gene.
Function CT120 may assume very essential physiological functions involving in amino acid transport and glutathione metabolism through interaction with SLC3A2 and GGTL3B.
Homology Homology comparison revealed that CT120 is highly conserved during biological evolution.

4. Implicated in

Entity Lung cancer
Prognosis CT120A protein was a potential molecular target for treatment of lung cancers. CT120A was overexpressed in 15 cases of the 16 primary lung cancer specimens. Knockdown of CT120A by small hairpin RNA in the human lung adenocarcinoma cell line SPC-A-1 cells resulted in a reduced cell growth rate in vitro and decrease of the capacity for anchorage-independent growth and tumorigenicity in nude mice.
The suppression of CT120A expression also sensitized cells to ultraviolet-induced apoptosis. Atlas cDNA expression array revealed that the expressions of several apoptosis- and growth-associated genes were altered underlying the molecular mechanisms of these cell biological behaviors.
Oncogenesis CT120 ectopic expression could promote cell proliferation activity of NIH3T3 cells, and two major signaling pathways involved in cell proliferation, cell survival and anti-apoptosis were overexpressed and activated in response to CT120: one is the Raf/MEK/Erk signal cascades and the other is the PI3K/Akt signal cascades, suggesting that CT120 might contribute, at least in part, to the constitutively activation of Erk and Akt in human lung cancer cells.
In addition, some tumor metastasis associated genes cathepsin B, cathepsin D, cathepsin L, MMP-2/TIMP-2 were also upregulated by CT120, upon which CT120 might be involved in tumor invasiveness and metastasis.
In addition, CT120 might play an important role in tumor progression through modulating the expression of some candidate "lung tumor progression" genes including B-Raf, Rab-2, BAX, BAG-1, YB-1 and Cdc42.

5. Bibliography

Molecular cloning and characterization of CT120, a novel membrane-associated gene involved in amino acid transport and glutathione metabolism.
He X, Di Y, Li J, Xie Y, Tang Y, Zhang F, Wei L, Zhang Y, Qin W, Huo K, Li Y, Wan D, Gu J.
Biochem Biophys Res Commun. 2002 Sep 27;297(3):528-36.
PMID 12270127
Altered gene expression profiles of NIH3T3 cells regulated by human lung cancer associated gene CT120.
He XH, Li JJ, Xie YH, Tang YT, Yao GF, Qin WX, Wan DF, Gu JR.
Cell Res. 2004 Dec;14(6):487-96.
PMID 15625016
Silencing of CT120 by antisense oligonucleotides could inhibit the lung cancer cells growth.
Li Z, Shao S, Xie S, Jiao F, Ma Y, Shi S.
Ir J Med Sci. 2010 Jun;179(2):217-23. Epub 2009 Dec 20.
PMID 20024628
Down-regulation of CT120A by RNA interference suppresses lung cancer cells growth and sensitizes to ultraviolet-induced apoptosis.
Pan D, Wei L, Yao M, Wan D, Gu J.
Cancer Lett. 2006 Apr 8;235(1):26-33. Epub 2005 May 31.
PMID 15927361
Inhibitory effect of CT120B, an alternative splice variant of CT120A, on lung cancer cell growth.
Pan DN, Li JJ, Wei L, Yao M, Wan DF, Gu JR.
Acta Biochim Biophys Sin (Shanghai). 2005 Sep;37(9):588-92.
PMID 16143812

6. Citation

This paper should be referenced as such :
Chen, Z ; He, X
FAM57A (family with sequence similarity 57, member A)
Atlas Genet Cytogenet Oncol Haematol. 2011;15(5):408-409.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://atlasgeneticsoncology.usal.es/classic/Genes/FAM57AID40183ch17p13.html

7. External links

HGNC (Hugo)FAM57A   29646
Entrez_Gene (NCBI)FAM57A  79850  family with sequence similarity 57 member A
GeneCards (Weizmann)FAM57A
Ensembl hg19 (Hinxton)ENSG00000167695 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000167695 [Gene_View] &nbspENSG00000167695 [Sequence]  chr17:732546-742968 [Contig_View]  FAM57A [Vega]
ICGC DataPortalENSG00000167695
TCGA cBioPortalFAM57A
AceView (NCBI)FAM57A
Genatlas (Paris)FAM57A
SOURCE (Princeton)FAM57A
Genetics Home Reference (NIH)FAM57A
Genomic and cartography
GoldenPath hg38 (UCSC)FAM57A  -     chr17:732546-742968 +  17p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FAM57A  -     17p13.3   [Description]    (hg19-Feb_2009)
EnsemblFAM57A - 17p13.3 [CytoView hg19]  FAM57A - 17p13.3 [CytoView hg38]
Mapping of homologs : NCBIFAM57A [Mapview hg19]  FAM57A [Mapview hg38]
Gene and transcription
Genbank (Entrez)AA055841 AF477201 AK025935 AK125146 AK292065
RefSeq transcript (Entrez)NM_001318006 NM_001318007 NM_001318008 NM_024792
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FAM57A
Cluster EST : UnigeneHs.154396 [ NCBI ]
CGAP (NCI)Hs.154396
Alternative Splicing GalleryENSG00000167695
Gene ExpressionFAM57A [ NCBI-GEO ]   FAM57A [ EBI - ARRAY_EXPRESS ]   FAM57A [ SEEK ]   FAM57A [ MEM ]
Gene Expression Viewer (FireBrowse)FAM57A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets] &nbsp [Normal Tissue Atlas] &nbsp[carcinoma Classsification] &nbsp[NCI60]
GenevestigatorExpression in : [tissues] &nbsp[cell-lines] &nbsp[cancer] &nbsp[perturbations] &nbsp
BioGPS (Tissue expression)79850
GTEX Portal (Tissue expression)FAM57A
Human Protein AtlasENSG00000167695-FAM57A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TBR7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TBR7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TBR7
Splice isoforms : SwissVarQ8TBR7
Domaine pattern : Prosite (Expaxy)TLC (PS50922)   
Domains : Interpro (EBI)TLC-dom   
Domain families : Pfam (Sanger)TRAM_LAG1_CLN8 (PF03798)   
Domain families : Pfam (NCBI)pfam03798   
Domain families : Smart (EMBL)TLC (SM00724)  
Conserved Domain (NCBI)FAM57A
DMDM Disease mutations79850
Blocks (Seattle)FAM57A
Human Protein Atlas [tissue]ENSG00000167695-FAM57A [tissue]
Peptide AtlasQ8TBR7
IPIIPI00152247   IPI00747001   IPI00903079   
Protein Interaction databases
IntAct (EBI)Q8TBR7
Ontologies - Pathways
Ontology : AmiGOprotein binding  plasma membrane  biological_process  integral component of membrane  
Ontology : EGO-EBIprotein binding  plasma membrane  biological_process  integral component of membrane  
NDEx NetworkFAM57A
Atlas of Cancer Signalling NetworkFAM57A
Wikipedia pathwaysFAM57A
Orthology - Evolution
GeneTree (enSembl)ENSG00000167695
Phylogenetic Trees/Animal Genes : TreeFamFAM57A
Homologs : HomoloGeneFAM57A
Homology/Alignments : Family Browser (UCSC)FAM57A
Gene fusions - Rearrangements
Fusion : QuiverFAM57A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFAM57A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FAM57A
Exome Variant ServerFAM57A
ExAC (Exome Aggregation Consortium)ENSG00000167695
GNOMAD BrowserENSG00000167695
Varsome BrowserFAM57A
Genetic variants : HAPMAP79850
Genomic Variants (DGV)FAM57A [DGVbeta]
DECIPHERFAM57A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFAM57A 
ICGC Data PortalFAM57A 
TCGA Data PortalFAM57A 
Broad Tumor PortalFAM57A
OASIS PortalFAM57A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFAM57A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFAM57A
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 FAM57A
DgiDB (Drug Gene Interaction Database)FAM57A
DoCM (Curated mutations)FAM57A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FAM57A (select a term)
NCG5 (London)FAM57A
Cancer3DFAM57A(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Genetic Testing Registry FAM57A
NextProtQ8TBR7 [Medical]
Target ValidationFAM57A
Huge Navigator FAM57A [HugePedia]
snp3D : Map Gene to Disease79850
BioCentury BCIQFAM57A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79850
Chemical/Pharm GKB GenePA142671861
Clinical trialFAM57A
canSAR (ICR)FAM57A (select the gene name)
DataMed IndexFAM57A
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 17 18:54:58 CET 2019

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