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FRA10AC1 FRA10A associated CGG repeat 1 [ Homo sapiens (human) ]

Gene ID: 118924, updated on 21-Dec-2019

Summary

Official Symbol
FRA10AC1provided by HGNC
Official Full Name
FRA10A associated CGG repeat 1provided by HGNC
Primary source
HGNC:HGNC:1162
See related
Ensembl:ENSG00000148690 MIM:608866
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FRA10A; C10orf4; F26C11.1-like
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]
Expression
Ubiquitous expression in brain (RPKM 6.1), testis (RPKM 5.4) and 25 other tissues See more
Orthologs

Genomic context

See FRA10AC1 in Genome Data Viewer
Location:
10q23.33
Exon count:
16
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (93667883..93702959, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (95427640..95462329, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene retinol binding protein 4 Neighboring gene phosphodiesterase 6C Neighboring gene FRA10A repeat instability region Neighboring gene uncharacterized LOC101927013 Neighboring gene uncharacterized LOC105378437 Neighboring gene leucine rich glioma inactivated 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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein FRA10AC1
Names
fragile site 10q23.3
fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1
rare folic acid-type fragile site, FRA(10)(q23.3), candidate gene 1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_016832.1 RefSeqGene

    Range
    4981..39690
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001347712.1NP_001334641.1  protein FRA10AC1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-5 all encode the same protein.
    Source sequence(s)
    AA505135, AK090955, AL157396, CN298116, DB452961
    Consensus CDS
    CCDS7430.1
    UniProtKB/Swiss-Prot
    Q70Z53
  2. NM_001347713.1NP_001334642.1  protein FRA10AC1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-5 all encode the same protein.
    Source sequence(s)
    AA505135, AK090955, AL157396, CN298116
    Consensus CDS
    CCDS7430.1
    UniProtKB/Swiss-Prot
    Q70Z53
  3. NM_001347714.1NP_001334643.1  protein FRA10AC1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-5 all encode the same protein.
    Source sequence(s)
    AA505135, AK090955, AK309016, AL157396, CN298116
    Consensus CDS
    CCDS7430.1
    UniProtKB/Swiss-Prot
    Q70Z53
  4. NM_001347715.1NP_001334644.1  protein FRA10AC1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1-5 all encode the same protein.
    Source sequence(s)
    AA505135, AJ431721, AK090955, AL157396, CN298116
    Consensus CDS
    CCDS7430.1
    UniProtKB/Swiss-Prot
    Q70Z53
  5. NM_145246.5NP_660289.2  protein FRA10AC1

    See identical proteins and their annotated locations for NP_660289.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the most abundant transcript. Variants 1-5 all encode the same protein.
    Source sequence(s)
    AK090955, AL157396, CN298116
    Consensus CDS
    CCDS7430.1
    UniProtKB/Swiss-Prot
    Q70Z53
    Related
    ENSP00000360488.3, ENST00000359204.5
    Conserved Domains (1) summary
    pfam09725
    Location:104215
    Fra10Ac1; Folate-sensitive fragile site protein Fra10Ac1

RNA

  1. NR_144635.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA505135, AK090955, AL157396, CN298116

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    93667883..93702959 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_203438.2: Suppressed sequence

    Description
    NM_203438.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  2. NM_203439.2: Suppressed sequence

    Description
    NM_203439.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  3. NM_203440.2: Suppressed sequence

    Description
    NM_203440.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  4. NM_203441.2: Suppressed sequence

    Description
    NM_203441.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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