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

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, Nov 2024]
Expression: Biased expression in brain (RPKM 151.8), lung (RPKM 18.6) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
FAM107A gene is down-regulated in laryngeal tumors.
Title: Combined deletion and DNA methylation result in silencing of FAM107A gene in laryngeal tumors.
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.
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.
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.
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 EBI GWAS CatalogPubMed

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

1818 (e-PCR)
- UniSTS:78363

D3S2857E (e-PCR)
- UniSTS:55071

SHGC-77037 (e-PCR)
- UniSTS:15236

D3S3406 (e-PCR)
- UniSTS:5811

RH41806 (e-PCR)
- UniSTS:39121

SHGC-77047 (e-PCR)
- UniSTS:23517

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)

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)
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)
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)
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

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

58564117..58627610 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_060927.1 Alternate T2T-CHM13v2.0

Range

58604489..58667988 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

B3KNQ4, B7ZAY5, J3KR61, O95990, Q96NH4

UniProtKB/TrEMBL

Q6IAM1