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Aliases for FAM57A Gene

Aliases for FAM57A Gene

  • Family With Sequence Similarity 57 Member A 2 3 5
  • Membrane Protein Expressed In Epithelial-Like Lung Adenocarcinoma 3
  • Family With Sequence Similarity 57, Member A 2
  • Protein FAM57A 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

Enhancers for FAM57A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F000728 1.2 Ensembl ENCODE 50.3 -1.3 -1272 6.0 ARID4B SIN3A GLI4 ZNF48 ZNF121 GLIS2 FOS KLF7 ZNF263 SP3 FAM57A VPS53 MRM3 GEMIN4 GC17M000727
GH17F000689 1.4 FANTOM5 Ensembl ENCODE 23.8 -39.4 -39410 7.2 KLF17 SIN3A RFX5 GLIS2 SCRT2 RCOR1 FOS EGR2 CEBPB ZNF217 VPS53 FAM57A C17orf97 RFLNB DOC2B TIMM22 GEMIN4 LOC105376795 GC17M000676 GC17P000714
GH17F000750 1.1 ENCODE 22.4 +19.9 19915 3.5 HDGF PKNOX1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 FAM57A MRM3 DBIL5P GLOD4 VPS53 TIMM22 GEMIN4 PIR42448
GH17F000739 1 Ensembl ENCODE 22.6 +7.9 7916 1.3 HDGF PKNOX1 TBL1XR1 WRNIP1 BMI1 EBF1 ZFHX2 ZNF366 POLR2A EED FAM57A VPS53 MRM3 ENSG00000262228 GC17M000743 PIR59934
GH17F000599 1.6 FANTOM5 Ensembl ENCODE 11.4 -130.4 -130401 4.1 PKNOX1 ATF1 ARNT ELK1 GATA2 ZNF207 ZNF263 NCOA1 REST MBD2 VPS53 RFLNB LOC105371430 C17orf97 FAM57A GEMIN4 GC17P000599 GC17M000605
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAM57A on UCSC Golden Path with GeneCards custom track

Promoters for FAM57A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001338547 188 2001 ARID4B SIN3A GLI4 ZNF48 GLIS2 KLF7 ZNF263 SP3 TSHZ1 SMARCB1

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

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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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 --
GO:0016020 membrane IEA --
GO:0016021 integral component of 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

Transcripts for FAM57A Gene

Unigene Clusters for FAM57A Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of FAM57A Gene:

FAM57A

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

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 34 35
  • 98.1 (n)
dog
(Canis familiaris)
Mammalia FAM57A 34 35
  • 88.72 (n)
cow
(Bos Taurus)
Mammalia FAM57A 34
  • 84.82 (n)
MGC155170 35
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam57a 34
  • 83.53 (n)
mouse
(Mus musculus)
Mammalia Fam57a 34 16 35
  • 81.58 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM57A 35
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM57A 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM57A 34 35
  • 68.36 (n)
lizard
(Anolis carolinensis)
Reptilia FAM57A 35
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam57a 34
  • 59.24 (n)
Str.20213 34
fruit fly
(Drosophila melanogaster)
Insecta CG17841 35
  • 16 (a)
OneToMany
Species where no ortholog for FAM57A was found in the sources mined by GeneCards:
  • 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
rs1064245 -- 741,746(+) GCAAA(A/C)GCACT utr-variant-3-prime
rs111405529 -- 733,080(+) CTGTT(-/CTC)TCTCT intron-variant
rs111432536 -- 740,740(+) GCATG(C/T)ATGAA intron-variant
rs111577057 -- 740,990(+) TATTT(C/T)TTCCC intron-variant
rs111604591 -- 734,547(+) GGGCT(C/T)CAACG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv574090 CNV gain 21841781
nsv574075 CNV loss 21841781
nsv573948 CNV gain 21841781
nsv469891 CNV loss 16826518
nsv457631 CNV gain 19166990
nsv457627 CNV gain 19166990
nsv1064955 CNV gain 25217958
nsv1063272 CNV gain 25217958
nsv1057000 CNV gain 25217958
esv3892944 CNV gain 25118596
esv3639637 CNV loss 21293372
esv3639636 CNV gain 21293372
esv3639625 CNV gain 21293372
esv2758673 CNV gain 17122850
esv2422420 CNV duplication 17116639
esv24125 CNV loss 19812545
dgv5389n54 CNV gain 21841781
dgv5387n54 CNV loss 21841781
dgv5386n54 CNV gain 21841781
dgv3074n100 CNV gain 25217958
dgv3072n100 CNV gain 25217958
dgv3071n100 CNV gain 25217958
dgv1397n106 CNV deletion 24896259

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. 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 64
  5. The protein interaction landscape of the human CMGC kinase group. (PMID: 23602568) Varjosalo M. … Gstaiger M. (Cell Rep 2013) 3 64

Products for FAM57A Gene

Sources for FAM57A Gene

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