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

Gene ID: 11170, updated on 14-Nov-2024

Summary

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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
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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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

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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

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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

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

NCBI Reference Sequences (RefSeq)

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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

    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:23 → 133
    DUF1151; Protein of unknown function (DUF1151)

  2. NM_001282713.2 → NP_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:51 → 161
    DUF1151; Protein of unknown function (DUF1151)

  3. NM_001282714.2 → NP_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:54 → 164
    DUF1151; Protein of unknown function (DUF1151)

  4. NM_007177.4 → NP_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: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.

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