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Aliases for FAM57A Gene

Aliases for FAM57A Gene

  • Family With Sequence Similarity 57 Member A 2 3 5
  • Family With Sequence Similarity 57, Member A 2 3
  • Membrane Protein Expressed In Epithelial-Like Lung Adenocarcinoma 3
  • Protein CT120 4
  • CT120 3

External Ids for FAM57A Gene

Previous GeneCards Identifiers for FAM57A Gene

  • GC17P000583
  • GC17P000635

Summaries for FAM57A Gene

Entrez Gene Summary for FAM57A Gene

  • The protein encoded by this gene is a membrane-associated protein that promotes lung carcinogenesis. The encoded protein may be involved in amino acid transport and glutathione metabolism since it can interact with a solute carrier family member (SLC3A2) and an isoform of gamma-glutamyltranspeptidase-like 3. An alternatively spliced variant encoding a protein that lacks a 32 aa internal segment showed the opposite effect, inhibiting lung cancer cell growth. Knockdown of this gene also inhibited lung carcinogenesis and tumor cell growth. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

GeneCards Summary for FAM57A Gene

FAM57A (Family With Sequence Similarity 57 Member A) is a Protein Coding gene. An important paralog of this gene is FAM57B.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM57A Gene

Genomics for FAM57A Gene

Regulatory Elements for FAM57A Gene

Promoters for FAM57A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FAM57A on UCSC Golden Path with GeneCards custom track

Genomic Location for FAM57A Gene

Chromosome:
17
Start:
732,412 bp from pter
End:
742,972 bp from pter
Size:
10,561 bases
Orientation:
Plus strand

Genomic View for FAM57A Gene

Genes around FAM57A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM57A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM57A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM57A Gene

Proteins for FAM57A Gene

  • Protein details for FAM57A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TBR7-FA57A_HUMAN
    Recommended name:
    Protein FAM57A
    Protein Accession:
    Q8TBR7
    Secondary Accessions:
    • A8K7Q0
    • Q7Z464
    • Q96D97
    • Q9H6H3

    Protein attributes for FAM57A Gene

    Size:
    257 amino acids
    Molecular mass:
    29383 Da
    Quaternary structure:
    • Interacts with GGT7 isoform 3 and SLC3A2.

    Alternative splice isoforms for FAM57A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM57A Gene

Proteomics data for FAM57A Gene at MOPED

Post-translational modifications for FAM57A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FAM57A Gene

Domains & Families for FAM57A Gene

Protein Domains for FAM57A Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM57A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TBR7

UniProtKB/Swiss-Prot:

FA57A_HUMAN :
  • Contains 1 TLC (TRAM/LAG1/CLN8) domain.
Domain:
  • Contains 1 TLC (TRAM/LAG1/CLN8) domain.
genes like me logo Genes that share domains with FAM57A: view

No data available for Gene Families for FAM57A Gene

Function for FAM57A Gene

Phenotypes for FAM57A Gene

genes like me logo Genes that share phenotypes with FAM57A: view

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM57A Gene

Localization for FAM57A Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM57A Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAM57A Gene COMPARTMENTS Subcellular localization image for FAM57A gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for FAM57A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with FAM57A: view

Pathways & Interactions for FAM57A Gene

SuperPathways for FAM57A Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM57A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM57A Gene

Drugs & Compounds for FAM57A Gene

No Compound Related Data Available

Transcripts for FAM57A Gene

Unigene Clusters for FAM57A Gene

Family with sequence similarity 57, member A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FAM57A Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d · 5e
SP1:
SP2: -
SP3:
SP4: - -
SP5: -

Relevant External Links for FAM57A Gene

GeneLoc Exon Structure for
FAM57A
ECgene alternative splicing isoforms for
FAM57A

Expression for FAM57A Gene

mRNA expression in normal human tissues for FAM57A Gene

mRNA differential expression in normal tissues according to GTEx for FAM57A Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x6.8) and Skin - Sun Exposed (Lower leg) (x6.1).

Protein differential expression in normal tissues from HIPED for FAM57A Gene

This gene is overexpressed in Adipocyte (25.2), Pancreas (13.1), Fetal gut (12.9), Fetal heart (11.3), and Colon (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FAM57A Gene



SOURCE GeneReport for Unigene cluster for FAM57A Gene Hs.154396

mRNA Expression by UniProt/SwissProt for FAM57A Gene

Q8TBR7-FA57A_HUMAN
Tissue specificity: Highly expressed in pancreas. Detected at intermediate levels in heart, placenta and kidney, and at low levels in brain, liver and skeletal muscle. Not detected in normal lung.
genes like me logo Genes that share expression patterns with FAM57A: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for FAM57A Gene

Orthologs for FAM57A Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM57A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM57A 35
  • 98.1 (n)
  • 97.62 (a)
FAM57A 36
  • 69 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MGC155170 36
  • 79 (a)
OneToOne
FAM57A 35
  • 84.82 (n)
  • 80.93 (a)
dog
(Canis familiaris)
Mammalia FAM57A 35
  • 88.72 (n)
  • 88.33 (a)
FAM57A 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fam57a 16
Fam57a 36
  • 73 (a)
OneToOne
Fam57a 35
  • 81.58 (n)
  • 73.15 (a)
oppossum
(Monodelphis domestica)
Mammalia FAM57A 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM57A 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam57a 35
  • 83.53 (n)
  • 77.43 (a)
chicken
(Gallus gallus)
Aves FAM57A 35
  • 68.36 (n)
  • 63.89 (a)
FAM57A 36
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM57A 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam57a 35
  • 59.24 (n)
  • 55.86 (a)
Str.20213 35
fruit fly
(Drosophila melanogaster)
Insecta CG17841 36
  • 16 (a)
OneToMany
Species with no ortholog for FAM57A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for FAM57A Gene

ENSEMBL:
Gene Tree for FAM57A (if available)
TreeFam:
Gene Tree for FAM57A (if available)

Paralogs for FAM57A Gene

Paralogs for FAM57A Gene

(1) SIMAP similar genes for FAM57A Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with FAM57A: view

Variants for FAM57A Gene

Sequence variations from dbSNP and Humsavar for FAM57A Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs648884 -- 731,548(-) AGAGC(A/G)GGACT upstream-variant-2KB
rs924942 -- 734,321(-) AAAAA(A/C)TTTGC intron-variant
rs1964849 -- 738,312(-) TTGAA(A/G)TCAGC intron-variant
rs2243986 -- 733,680(+) CAGAG(C/G/T)TCAGT intron-variant
rs2244311 -- 736,603(-) ATTAC(A/G)GCGGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FAM57A Gene

Variant ID Type Subtype PubMed ID
nsv457627 CNV Gain 19166990
esv2422420 CNV Duplication 17116639
nsv457631 CNV Gain 19166990
nsv469891 CNV Complex 16826518
dgv925e1 CNV Complex 17122850
esv673 CNV CNV 17122850
esv24125 CNV Loss 19812545

Variation tolerance for FAM57A Gene

Residual Variation Intolerance Score: 62.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.74; 15.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAM57A Gene

HapMap Linkage Disequilibrium report
FAM57A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM57A Gene

Disorders for FAM57A Gene

Relevant External Links for FAM57A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM57A

No disorders were found for FAM57A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM57A Gene

Publications for FAM57A Gene

  1. Molecular cloning and characterization of CT120, a novel membrane- associated gene involved in amino acid transport and glutathione metabolism. (PMID: 12270127) He X.H. … Gu J.R. (Biochem. Biophys. Res. Commun. 2002) 2 3 4 67
  2. Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. (PMID: 23535732) Eeles R.A. … Easton D.F. (Nat. Genet. 2013) 3
  3. The protein interaction landscape of the human CMGC kinase group. (PMID: 23602568) Varjosalo M. … Gstaiger M. (Cell Rep 2013) 3
  4. Silencing of CT120 by antisense oligonucleotides could inhibit the lung cancer cells growth. (PMID: 20024628) Li Z. … Shi S. (Ir J Med Sci 2010) 3
  5. Inhibitory effect of CT120B, an alternative splice variant of CT120A, on lung cancer cell growth. (PMID: 16143812) Pan D.N. … Gu J.R. (Acta Biochim. Biophys. Sin. (Shanghai) 2005) 3

Products for FAM57A Gene

Sources for FAM57A Gene

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