FRA10AC1 - FRA10A associated CGG repeat 1 Gene

Also Known as FRA10A; NEDGFC; C10orf4; F26C11.1-like

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 118924

About FRA10AC1

Cytogenetic location: 10q23.33 Genomic coordinates (GRCh38): 10:93,667,883-93,702,959 (from NCBI)

This gene has 6 transcripts (splice variants), 201 orthologues and 5 paralogues. Ubiquitous expression in brain (RPKM 6.1), testis (RPKM 5.4) and 25 other tissues.

Summary

The protein encoded by this gene is a nuclear phosphoprotein of unknown function. This gene contains a tandem CGG repeat region within a CpG island that normally consists of 8-14 repeats but can expand to over 200 repeats. The repeat region is within the 5' UTR of some transcript variants, but is intronic to another variant. The expanded repeat allele is a fragile site and becomes hypermethylated, causing a reduction in gene expression. A disease phenotype has not been associated with expanded alleles. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Dec 2016]

FRA10AC1 Products (5)

mRNA Protein Name
NM_001347712.2 NP_001334641.1 protein FRA10AC1
NM_001347713.2 NP_001334642.1 protein FRA10AC1
NM_001347714.2 NP_001334643.1 protein FRA10AC1
NM_001347715.2 NP_001334644.1 protein FRA10AC1
NM_145246.5 NP_660289.2 protein FRA10AC1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
16169070 GOA
Biological Process GO Annotation Evidence References Source
involved in mRNA splicing, via spliceosome IMP
IMP: Inferred from mutant phenotype
34694367 GOA
Cellular Component GO Annotation Evidence References Source
located in nucleus IMP
IMP: Inferred from mutant phenotype
34694367 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FRA10AC1 Protein Structure

Fra10Ac1

Fra10Ac1: Folate-sensitive fragile site protein Fra10Ac1 (103 - 220)

  • 0
  • 100
  • 200
  • 300
  • 315 a.a.
Protein Preferred Names Protein Names

protein FRA10AC1

  • fragile site 10q23.3

FRA10AC1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
FRA10AC1 Q70Z53 ESS2 Homo sapiens Q96DF8
Anti Tag CoIP
22365833
Intra
FRA10AC1 Q70Z53 ESS2 Homo sapiens Q96DF8
Anti Tag CoIP
34694367
Intra
FRA10AC1 Q70Z53 ESS2 Homo sapiens Q96DF8
Y2H
22365833
Intra
FRA10AC1 Q70Z53 MAP3K12 Homo sapiens Q12852
Pull Down
16169070
Intra
FRA10AC1 Q70Z53 MAP3K12 Homo sapiens Q12852
Y2H Pooling
16169070
Intra
FRA10AC1 Q70Z53 IK Homo sapiens Q13123
Anti Tag CoIP
22365833
Intra
FRA10AC1 Q70Z53 IK Homo sapiens Q13123
Y2H
22365833
Intra
FRA10AC1 Q70Z53 TRIM41 Homo sapiens Q8WV44
Validated Y2H
25416956
Intra
FRA10AC1 Q70Z53 TRIM41 Homo sapiens Q8WV44
Y2H Array
25416956
Intra
FRA10AC1 Q70Z53 KASH5 Homo sapiens Q8N6L0
Y2H Prey Pooling
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Failure Of Tooth Eruption, Primary

  • Primary Failure Of Tooth Eruption

  • PFE

  • Primary Retention Of Teeth

  • Unerupted Second Primary Molar

  • Dental Noneruption

  • Familial Posterior Openbite Malocclusion

  • Primary Failure Of Tooth Eruption, Nonsyndromic

  • Posterior Openbite Malocclusion, Familial

  • Nonsyndromic Primary Failure Of Eruption

  • Dental Non-Eruption

  • Non-Syndromic Primary Failure Of Eruption

  • Tooth Eruption, Failure, Primary
Jacobsen Syndrome

  • Chromosome 11q Deletion Syndrome

  • Partial 11q Monosomy Syndrome

  • Jacobsen Distal 11q Deletion Syndrome

  • JBS

  • 11q Partial Monosomy Syndrome

  • Chromosome 11q Deletion

  • 11q Deletion

  • 11q Monosomy

  • Deletion 11q

  • Monosomy 11q

  • Partial Monosomy 11q

  • 11q Deletion Disorder

  • 11q Deletion Syndrome

  • 11q Terminal Deletion Disorder

  • 11q- Deletion Syndrome

  • 11q23 Deletion Disorder

  • Jacobsen Thrombocytopenia

  • 11q Terminal Deletion Syndrome

  • Del(11)(Q23.3)

  • Del(11)(Qter)

  • Distal Deletion 11q

  • Distal Monosomy 11q

  • Monosomy 11qter

  • Telomeric Deletion 11q

  • Paris-Trousseau Thrombocytopenia
Tracheomalacia

  • Congenital Tracheomalacia

  • Congenital Major Airway Collapse

  • Tracheomalacia, Congenital

  • Type 1 Tracheomalacia
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS05088 FRA10AC1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus FRA10AC1 RGD RGD:1309482
Bos taurus FRA10AC1 VGNC VGNC:52779
Felis catus FRA10AC1 VGNC VGNC:62353
Mus musculus FRA10AC1 MGD MGI:1917817
Macaca mulatta FRA10AC1 VGNC VGNC:97771
Canis familiaris FRA10AC1 VGNC VGNC:52992
Others FRA10AC1 NCBI