Aliases for FAM107A Gene

Aliases for FAM107A Gene

  • Family With Sequence Similarity 107 Member A 2 3 5
  • DRR1 2 3 4
  • TU3A 2 3 4
  • Down-Regulated In Renal Cell Carcinoma 1 3 4
  • Actin-Associated Protein FAM107A 3 4
  • Family With Sequence Similarity 107, Member A 2
  • Down-Regulated In Renal Cell Carcinoma 2
  • Protein FAM107A 3
  • Protein TU3A 4
  • FAM107A 5

External Ids for FAM107A Gene

Previous GeneCards Identifiers for FAM107A Gene

  • GC03M058526
  • GC03M058549
  • GC03M058565
  • GC03M058568

Summaries for FAM107A Gene

GeneCards Summary for FAM107A Gene

FAM107A (Family With Sequence Similarity 107 Member A) is a Protein Coding gene. Diseases associated with FAM107A include Neuroblastoma and Brain Cancer. An important paralog of this gene is FAM107B.

UniProtKB/Swiss-Prot Summary for FAM107A Gene

  • Stress-inducible actin-binding protein that plays a role in synaptic and cognitive functions by modulating actin filamentous (F-actin) dynamics. Mediates polymerization of globular actin to F-actin. Also binds to, stabilizes and bundles F-actin. Involved in synaptic function by regulating neurite outgrowth in an actin-dependent manner and for the acquisition of hippocampus-dependent cognitive function, such as learning and long-term memory (By similarity). Plays a role in the actin and microtubule cytoskeleton organization; negatively regulates focal adhesion (FA) assembly promoting malignant glial cell migration in an actin-, microtubule- and MAP1A-dependent manner (PubMed:20543869). Also involved in neuroblastoma G1/S phase cell cycle progression and cell proliferation inhibition by stimulating ubiquitination of NF-kappa-B subunit RELA and NF-kappa-B degradation in a COMMD1- and actin-dependent manner (PubMed:10564580, PubMed:28604741). May play a role in tumor development (PubMed:10564580).

Gene Wiki entry for FAM107A Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM107A Gene

Genomics for FAM107A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FAM107A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J058626 Enhancer 1.4 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 616.9 -0.7 -691 4.6 CTCF ZNF7 ZNF143 PKNOX1 REST RAD21 SP1 TRIM22 SCRT2 FOXA2 FAM107A lnc-FAM107A-1 ENSG00000243384 ACOX2 PXK FAM3D-AS1 LOC105377109 FAM3D
GH03J058575 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 624.6 +51.2 51182 3.3 CTCF ZIC2 SP1 NR2F2 STAT1 GLIS1 ZNF143 ZFP36 FAM107A FAM3D-AS1 ENSG00000243384 piR-57138-034 ACOX2 LOC107984079 lnc-FAM107A-1
GH03J058587 Promoter/Enhancer 0.8 EPDnew Ensembl 600.3 +40.6 40609 0.4 EZH2 SIN3A TBP CHD2 FAM107A ENSG00000243384 piR-57138-034 piR-37586-032 lnc-FAM107A-1 ACOX2
GH03J058332 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 +293.2 293238 4.7 CEBPG SP1 GATAD2A PRDM10 ZNF629 KDM1A ZNF692 BACH1 JUND FOXA1 PXK DENND6A FLNB-AS1 FLNB KCTD6 RPP14 PDE12 HTD2 FAM107A ABHD6
GH03J058382 Enhancer 1.4 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 16 +239.9 239909 10.2 TEAD4 FOXA1 SP1 JUND ESR1 CTBP1 ZNF316 MAFF FOS YY1 PXK RPP14 FAM107A FLNB-AS1 HTD2 ACOX2 ENSG00000243384 FLNB PDHB ABHD6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM107A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM107A

Top Transcription factor binding sites by QIAGEN in the FAM107A gene promoter:
  • AML1a
  • Evi-1
  • FOXO4
  • HSF2
  • NRSF form 1
  • NRSF form 2
  • Oct-B1
  • Pax-2
  • Pax-2a
  • Pax-2b

Genomic Locations for FAM107A Gene

Genomic Locations for FAM107A Gene
chr3:58,564,117-58,627,610
(GRCh38/hg38)
Size:
63,494 bases
Orientation:
Minus strand
chr3:58,549,844-58,613,337
(GRCh37/hg19)
Size:
63,494 bases
Orientation:
Minus strand

Genomic View for FAM107A Gene

Genes around FAM107A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM107A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM107A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM107A Gene

Proteins for FAM107A Gene

  • Protein details for FAM107A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95990-F107A_HUMAN
    Recommended name:
    Actin-associated protein FAM107A
    Protein Accession:
    O95990
    Secondary Accessions:
    • B3KNQ4
    • B7ZAY5
    • J3KR61
    • Q96NH4

    Protein attributes for FAM107A Gene

    Size:
    144 amino acids
    Molecular mass:
    17455 Da
    Quaternary structure:
    • Interacts with ACTB (PubMed:21969592, PubMed:28604741). Interacts with COMMD1; this interaction stabilizes COMMD1 in the nucleus (PubMed:28604741). Interacts with MAP1A (PubMed:20543869). Interacts with PRDX1 (PubMed:21969592). Interacts with F-actin (By similarity).
    Miscellaneous:
    • [Isoform 2]: May be due to an intron retention.

    Alternative splice isoforms for FAM107A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM107A Gene

Post-translational modifications for FAM107A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FAM107A Gene

Domains & Families for FAM107A Gene

Gene Families for FAM107A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM107A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM107A Gene

GenScript: Design optimal peptide antigens:
  • Protein TU3A (F107A_HUMAN)
  • TU3A protein (Q6IAM1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95990

UniProtKB/Swiss-Prot:

F107A_HUMAN :
  • Belongs to the FAM107 family.
Family:
  • Belongs to the FAM107 family.
genes like me logo Genes that share domains with FAM107A: view

Function for FAM107A Gene

Molecular function for FAM107A Gene

UniProtKB/Swiss-Prot Function:
Stress-inducible actin-binding protein that plays a role in synaptic and cognitive functions by modulating actin filamentous (F-actin) dynamics. Mediates polymerization of globular actin to F-actin. Also binds to, stabilizes and bundles F-actin. Involved in synaptic function by regulating neurite outgrowth in an actin-dependent manner and for the acquisition of hippocampus-dependent cognitive function, such as learning and long-term memory (By similarity). Plays a role in the actin and microtubule cytoskeleton organization; negatively regulates focal adhesion (FA) assembly promoting malignant glial cell migration in an actin-, microtubule- and MAP1A-dependent manner (PubMed:20543869). Also involved in neuroblastoma G1/S phase cell cycle progression and cell proliferation inhibition by stimulating ubiquitination of NF-kappa-B subunit RELA and NF-kappa-B degradation in a COMMD1- and actin-dependent manner (PubMed:10564580, PubMed:28604741). May play a role in tumor development (PubMed:10564580).

Phenotypes From GWAS Catalog for FAM107A Gene

Gene Ontology (GO) - Molecular Function for FAM107A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 20543869
genes like me logo Genes that share ontologies with FAM107A: view
genes like me logo Genes that share phenotypes with FAM107A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM107A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM107A Gene

Localization for FAM107A Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM107A Gene

Nucleus. Cytoplasm, cytoskeleton, stress fiber. Cell junction, focal adhesion. Cell projection, ruffle membrane. Cell junction, synapse. Note=Colocalizes with F-actin and COMMD1 in the nucleus (PubMed:28604741). Colocalizes with MAP1A along actin stress fibers and membrane ruffles (PubMed:20543869). {ECO:0000269 PubMed:20543869, ECO:0000269 PubMed:28604741}.

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 FAM107A gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 2
extracellular 1
mitochondrion 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FAM107A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IDA 20543869
GO:0005634 nucleus IEA,IDA 10564580
GO:0005737 cytoplasm IEA,IDA 28604741
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with FAM107A: view

Pathways & Interactions for FAM107A Gene

PathCards logo

SuperPathways for FAM107A Gene

No Data Available

SIGNOR curated interactions for FAM107A Gene

Activates:

Gene Ontology (GO) - Biological Process for FAM107A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001558 regulation of cell growth IDA 10564580
GO:0007049 cell cycle IEA --
GO:0030041 actin filament polymerization ISS --
GO:0030335 positive regulation of cell migration IMP 20543869
GO:0031398 positive regulation of protein ubiquitination IMP 28604741
genes like me logo Genes that share ontologies with FAM107A: view

No data available for Pathways by source for FAM107A Gene

Drugs & Compounds for FAM107A Gene

No Compound Related Data Available

Transcripts for FAM107A Gene

mRNA/cDNA for FAM107A Gene

4 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM107A

Alternative Splicing Database (ASD) splice patterns (SP) for FAM107A Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8 ^ 9a · 9b · 9c · 9d · 9e ^ 10a · 10b · 10c · 10d ^ 11a · 11b · 11c ^ 12a ·
SP1: - -
SP2: - - - - - - - - -
SP3: -
SP4: - - -
SP5: - - - - - - - - - -
SP6: - - - - - - -
SP7: - -
SP8: - - -
SP9: - - - - - -
SP10: - - - - - -
SP11: -
SP12: - - - - - - - - - - - - -
SP13:
SP14: - - - - - - - - -

ExUns: 12b · 12c ^ 13
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: - -
SP13:
SP14:

Relevant External Links for FAM107A Gene

GeneLoc Exon Structure for
FAM107A

Expression for FAM107A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM107A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM107A Gene

This gene is overexpressed in Brain - Amygdala (x5.8), Brain - Hippocampus (x4.7), and Brain - Spinal cord (cervical c-1) (x4.6).

Protein differential expression in normal tissues from HIPED for FAM107A Gene

This gene is overexpressed in Brain (50.3), Prostate (12.3), and Adipocyte (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM107A Gene



Protein tissue co-expression partners for FAM107A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM107A

SOURCE GeneReport for Unigene cluster for FAM107A Gene:

Hs.506357

mRNA Expression by UniProt/SwissProt for FAM107A Gene:

O95990-F107A_HUMAN
Tissue specificity: Widely expressed (PubMed:10564580). Expressed in neurons (PubMed:20543869). Expressed in malignant glial tumors (PubMed:20543869). Expression is reduced or absent in a number of cancer cell lines (PubMed:10564580).

Evidence on tissue expression from TISSUES for FAM107A Gene

  • Nervous system(5)
  • Eye(3.2)
  • Kidney(2.3)
  • Lung(2.3)
genes like me logo Genes that share expression patterns with FAM107A: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM107A Gene

Orthologs for FAM107A Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM107A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FAM107A 30 31
  • 99.31 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MGC143103 31
  • 96 (a)
OneToOne
FAM107A 30
  • 92.36 (n)
Dog
(Canis familiaris)
Mammalia FAM107A 30 31
  • 90.48 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fam107a 30
  • 87.04 (n)
Mouse
(Mus musculus)
Mammalia Fam107a 30 17 31
  • 86.34 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FAM107A 31
  • 56 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FAM107A 30 31
  • 68.41 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FAM107A 31
  • 62 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fam107a 30
  • 72.77 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9700 30
Zebrafish
(Danio rerio)
Actinopterygii LOC794256 30
  • 58.59 (n)
FAM107A 31
  • 42 (a)
OneToOne
Species where no ortholog for FAM107A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Oppossum (Monodelphis domestica)
  • 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 Vase (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)

Evolution for FAM107A Gene

ENSEMBL:
Gene Tree for FAM107A (if available)
TreeFam:
Gene Tree for FAM107A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM107A: view image

Paralogs for FAM107A Gene

Paralogs for FAM107A Gene

(2) SIMAP similar genes for FAM107A Gene using alignment to 4 proteins:

  • F107A_HUMAN
  • B7ZAY5_HUMAN
  • C9JAU5_HUMAN
  • J3KR61_HUMAN
genes like me logo Genes that share paralogs with FAM107A: view

Variants for FAM107A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM107A Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
751950 Benign: not provided 58,569,801(-) T/C SYNONYMOUS_VARIANT
VAR_017238 Ovarian cancer p.Leu15Met
VAR_017238 Renal cell carcinoma cell lines p.Leu15Met
VAR_017239 Renal cell carcinoma cell line p.Pro19Leu
rs1043942 - p.Ala89Ser

Additional dbSNP identifiers (rs#s) for FAM107A Gene

Structural Variations from Database of Genomic Variants (DGV) for FAM107A Gene

Variant ID Type Subtype PubMed ID
dgv4749n100 CNV gain 25217958
esv3561938 CNV deletion 23714750
esv3596253 CNV gain 21293372
esv3893702 CNV loss 25118596
nsv1109518 CNV deletion 24896259
nsv1116992 CNV deletion 24896259
nsv3839 CNV deletion 18451855
nsv470605 CNV gain 18288195
nsv524472 CNV gain 19592680

Variation tolerance for FAM107A Gene

Residual Variation Intolerance Score: 53.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.57; 82.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM107A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM107A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM107A Gene

Disorders for FAM107A Gene

MalaCards: The human disease database

(2) MalaCards diseases for FAM107A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
neuroblastoma
  • nb
brain cancer
  • adult brain tumor
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM107A

genes like me logo Genes that share disorders with FAM107A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM107A Gene

Publications for FAM107A Gene

  1. Loss of expression of the DRR 1 gene at chromosomal segment 3p21.1 in renal cell carcinoma. (PMID: 10564580) Wang L … Smith DI (Genes, chromosomes & cancer 2000) 2 3 4
  2. Isolation and characterization of the novel gene, TU3A, in a commonly deleted region on 3p14.3-->p14.2 in renal cell carcinoma. (PMID: 10702698) Yamato T … Horii A (Cytogenetics and cell genetics 1999) 2 3 4
  3. A novel nuclear complex of DRR1, F-actin and COMMD1 involved in NF-κB degradation and cell growth suppression in neuroblastoma. (PMID: 28604741) Mu P … Kadomatsu K (Oncogene 2017) 3 4
  4. DRR drives brain cancer invasion by regulating cytoskeletal-focal adhesion dynamics. (PMID: 20543869) Le PU … Petrecca K (Oncogene 2010) 3 4
  5. Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. (PMID: 20453842) Stahl EA … Plenge RM (Nature genetics 2010) 3 41

Products for FAM107A Gene

  • Signalway Proteins for FAM107A

Sources for FAM107A Gene