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

    Gene ID: 11170, updated on 28-Oct-2024

    Summary

    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, Oct 2024]
    Expression
    Biased expression in brain (RPKM 151.8), lung (RPKM 18.6) and 7 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ30158, FLJ45473

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables molecular_function ND
    No biological Data available
    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

    Preferred Names
    actin-associated protein FAM107A
    Names
    down-regulated in renal cell carcinoma 1
    protein FAM107A

    NCBI Reference Sequences (RefSeq)

    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_001076778.3NP_001070246.1  actin-associated protein FAM107A isoform a

      See identical proteins and their annotated locations for NP_001070246.1

      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:23133
      DUF1151; Protein of unknown function (DUF1151)
    2. NM_001282713.2NP_001269642.1  actin-associated protein FAM107A isoform b

      See identical proteins and their annotated locations for NP_001269642.1

      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:51161
      DUF1151; Protein of unknown function (DUF1151)
    3. NM_001282714.2NP_001269643.1  actin-associated protein FAM107A isoform c

      See identical proteins and their annotated locations for NP_001269643.1

      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:54164
      DUF1151; Protein of unknown function (DUF1151)
    4. NM_007177.4NP_009108.1  actin-associated protein FAM107A isoform a

      See identical proteins and their annotated locations for NP_009108.1

      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:23133
      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_047447370.1XP_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_054345087.1XP_054201062.1  actin-associated protein FAM107A isoform X1

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