U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    FAM107A family with sequence similarity 107 member A [ Homo sapiens (human) ]

    Gene ID: 11170, updated on 27-Nov-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    FAM107Aprovided by HGNC
    Official Full Name
    family with sequence similarity 107 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:30827
    See related
    Ensembl:ENSG00000168309 MIM:608295; AllianceGenome:HGNC:30827
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DRR1; TU3A
    Summary
    Predicted to enable actin binding activity. Involved in several processes, including negative regulation of G1/S transition of mitotic cell cycle; negative regulation of focal adhesion assembly; and regulation of cytoskeleton organization. Located in several cellular components, including focal adhesion; ruffle membrane; and stress fiber. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in brain (RPKM 151.8), lung (RPKM 18.6) and 7 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See FAM107A in Genome Data Viewer
    Location:
    3p14.3-p14.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (58564117..58627610, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (58604489..58667988, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (58549844..58613337, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58506479-58506996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58512267-58512782 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58517009-58517510 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58516141-58516641 Neighboring gene uncharacterized LOC107984079 Neighboring gene potassium channel tetramerization domain containing 6 Neighboring gene ribosomal protein L27 pseudogene 9 Neighboring gene acyl-CoA oxidase 2 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58546021-58547021 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58547022-58547522 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58547523-58548023 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58548024-58549024 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58551424-58551948 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58551949-58552472 Neighboring gene Sharpr-MPRA regulatory region 12039 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20013 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:58602944-58603149 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:58614585-58615086 Neighboring gene FAM3D antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58626158-58626658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58626659-58627159 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58634821-58635320 Neighboring gene uncharacterized LOC105377109 Neighboring gene FAM3 metabolism regulating signaling molecule D Neighboring gene CFAP20 domain containing Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58792456-58792956 Neighboring gene CFAP20DC antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58828169-58828785 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:58859831-58861030 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58876285-58876824 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:58884619-58885120 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20014 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:58940883-58941482 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:58983704-58984903

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. FAM107A as a Tumor Suppressor in Bladder Cancer Inhibits Cell Proliferation, Migration, and Invasion. Ou L, et al. Ann Clin Lab Sci, 2022 Mar. PMID 35414505
    2. Isolation and characterization of the novel gene, TU3A, in a commonly deleted region on 3p14.3-->p14.2 in renal cell carcinoma. Yamato T, et al. Cytogenet Cell Genet, 1999. PMID 10702698
    3. Methylation-associated silencing of TU3A in human cancers. Awakura Y, et al. Int J Oncol, 2008 Oct. PMID 18813805
    4. Induction of tumor inhibition and apoptosis by a candidate tumor suppressor gene DRR1 on 3p21.1. Liu Q, et al. Oncol Rep, 2009 Nov. PMID 19787223
    5. Native type IV collagen induces cell migration through a CD9 and DDR1-dependent pathway in MDA-MB-231 breast cancer cells. Castro-Sanchez L, et al. Eur J Cell Biol, 2010 Nov. PMID 20709424

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FAM107A as a tumor suppressor in esophageal squamous carcinoma inhibits growth and metastasis.
      Title: FAM107A as a tumor suppressor in esophageal squamous carcinoma inhibits growth and metastasis.
    2. FAM107A as a Tumor Suppressor in Bladder Cancer Inhibits Cell Proliferation, Migration, and Invasion.
      Title: FAM107A as a Tumor Suppressor in Bladder Cancer Inhibits Cell Proliferation, Migration, and Invasion.
    3. Transcription factor SP1-induced microRNA-146b-3p facilitates the progression and metastasis of colorectal cancer via regulating FAM107A.
      Title: Transcription factor SP1-induced microRNA-146b-3p facilitates the progression and metastasis of colorectal cancer via regulating FAM107A.
    4. Results showed that DRR1 is overexpressed in glioblastoma multiforme (GBM) tissues. Its overexpression is associated with tumor progression and poor clinical outcome of GBM patients, which indicates that DRR1 might be a novel prognostic marker of GBM. More results indicated that DRR1 was involved in GBM invasion and progression possibly through the induction of EMT as activated by phosphorylation of AKT.
      Title: DRR1 promotes glioblastoma cell invasion and epithelial-mesenchymal transition via regulating AKT activation.
    5. Both IQGAP3/BMP4 and IQGAP3/FAM107A ratios in ucfDNA were significantly higher in patients with BC than in those with hematuria.
      Title: Diagnostic value of combined IQGAP3/BMP4 and IQGAP3/FAM107A expression ratios in urinary cell-free DNA for discriminating bladder cancer from hematuria.
    6. FAM107A gene is down-regulated in laryngeal tumors.
      Title: Combined deletion and DNA methylation result in silencing of FAM107A gene in laryngeal tumors.
    7. This study has thus revealed a novel nuclear complex of F-actin, DRR1 and COMMD1 that is involved in NF-kappaB degradation and cell cycle suppression in neuroblastoma cells.
      Title: A novel nuclear complex of DRR1, F-actin and COMMD1 involved in NF-κB degradation and cell growth suppression in neuroblastoma.
    8. Importance of FAM107A in lung carcinogenesis, although other than promoter hypermethylation mechanism of the gene decreased expression.
      Title: Decreased FAM107A Expression in Patients with Non-small Cell Lung Cancer.
    9. Results found that DRR expression leads to elevated AKT activation by recruiting AKT to focal adhesios in a manner dependent on SRC-family kinases (SFKs) and cell adhesion.
      Title: DRR regulates AKT activation to drive brain cancer invasion.
    10. DRR1 protein is expressed in normal cells, particularly in the nervous system during embryogenesis, is involved in neuronal cell survival, and is downregulated during neuroblastoma carcinogenesis.
      Title: DRR1 is expressed in the developing nervous system and downregulated during neuroblastoma carcinogenesis.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
    EBI GWAS Catalog

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • FLJ30158, FLJ45473

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin filament bundle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in actin filament bundle assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in actin filament polymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in actin filament polymerization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cellular response to glucocorticoid stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cellular response to nutrient levels ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cognition ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of G1/S transition of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of focal adhesion assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of long-term synaptic potentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of protein ubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cell growth IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of microtubule cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of protein stability IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in actin cytoskeleton ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in focal adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in neuron projection ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ruffle membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in stress fiber IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in stress fiber IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    actin-associated protein FAM107A
    Names
    down-regulated in renal cell carcinoma 1
    protein FAM107A

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001076778.3 → NP_001070246.1  actin-associated protein FAM107A isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AF089853, AL050264, BX645008, EU569833
      Consensus CDS
      CCDS2892.1
      UniProtKB/Swiss-Prot
      B3KNQ4, B7ZAY5, J3KR61, O95990, Q96NH4
      UniProtKB/TrEMBL
      B3KY74, Q6IAM1
      Related
      ENSP00000354270.2, ENST00000360997.7
      Conserved Domains (1) summary
      pfam06625
      Location:23 → 133
      DUF1151; Protein of unknown function (DUF1151)

    2. NM_001282713.2 → NP_001269642.1  actin-associated protein FAM107A isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (b) has a longer N-terminus, compared to isoform a.
      Source sequence(s)
      AF089853, DB486334, EU569833
      Consensus CDS
      CCDS63672.1
      UniProtKB/TrEMBL
      B4DNP5
      Related
      ENSP00000400858.2, ENST00000447756.2
      Conserved Domains (1) summary
      pfam06625
      Location:51 → 161
      DUF1151; Protein of unknown function (DUF1151)

    3. NM_001282714.2 → NP_001269643.1  actin-associated protein FAM107A isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (c) has a longer N-terminus, compared to isoform a.
      Source sequence(s)
      AF089853, DA277819, DT216507, EU569833
      Consensus CDS
      CCDS63673.1
      UniProtKB/TrEMBL
      B3KY74
      Related
      ENSP00000419124.1, ENST00000474531.5
      Conserved Domains (1) summary
      pfam06625
      Location:54 → 164
      DUF1151; Protein of unknown function (DUF1151)

    4. NM_007177.4 → NP_009108.1  actin-associated protein FAM107A isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the shortest isoform (a). Both variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AF089853, BC010561, BX645008, EU569833
      Consensus CDS
      CCDS2892.1
      UniProtKB/Swiss-Prot
      B3KNQ4, B7ZAY5, J3KR61, O95990, Q96NH4
      UniProtKB/TrEMBL
      B3KY74, Q6IAM1
      Related
      ENSP00000377991.1, ENST00000394481.5
      Conserved Domains (1) summary
      pfam06625
      Location:23 → 133
      DUF1151; Protein of unknown function (DUF1151)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      58564117..58627610 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447370.1 → XP_047303326.1  actin-associated protein FAM107A isoform X1

      UniProtKB/Swiss-Prot
      B3KNQ4, B7ZAY5, J3KR61, O95990, Q96NH4
      UniProtKB/TrEMBL
      Q6IAM1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      58604489..58667988 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345087.1 → XP_054201062.1  actin-associated protein FAM107A isoform X1

      UniProtKB/Swiss-Prot
      B3KNQ4, B7ZAY5, J3KR61, O95990, Q96NH4
      UniProtKB/TrEMBL
      Q6IAM1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95990.1 GenPept UniProtKB/Swiss-Prot:O95990

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools