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

Gene ID: 11170, updated on 28-Jun-2021

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
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
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

See FAM107A in Genome Data Viewer
Location:
3p14.3-p14.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (58564117..58627610, complement)
105.20201022 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 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 FAM3D antisense RNA 1 Neighboring gene uncharacterized LOC105377109 Neighboring gene FAM3 metabolism regulating signaling molecule D Neighboring gene CFAP20 domain containing Neighboring gene CFAP20DC antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 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
PubMed 
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
PubMed 
involved_in actin filament polymerization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell cycle IEA
Inferred from Electronic Annotation
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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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)

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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_001076778.3NP_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
    O95990
    UniProtKB/TrEMBL
    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/Swiss-Prot
    O95990
    UniProtKB/TrEMBL
    Q6IAM1
    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/Swiss-Prot
    O95990
    UniProtKB/TrEMBL
    A0A024R327, Q6IAM1
    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
    O95990
    UniProtKB/TrEMBL
    Q6IAM1
    Related
    ENSP00000377991.1, ENST00000394481.5
    Conserved Domains (1) summary
    pfam06625
    Location:23133
    DUF1151; Protein of unknown function (DUF1151)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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