FRA10AC1 - FRA10A associated CGG repeat 1 Gene

Homo sapiens

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

Gene ID: 118924 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16169070	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mRNA splicing, via spliceosome	IMP IMP: Inferred from mutant phenotype	34694367	GOA

Cellular Component GO Annotation	Evidence	Reference	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

0
100
200
315 a.a.

Protein Preferred Names

Protein Names

protein FRA10AC1

fragile site 10q23.3

FRA10AC1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05088	FRA10AC1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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