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Mammalian apolipoprotein B mRNA undergoes site-specific C to U deamination, which is mediated by a multi-component enzyme complex containing a minimal core composed of APOBEC-1 and a complementation factor encoded by this gene. The gene product has three non-identical RNA recognition motifs and belongs to the hnRNP R family of RNA-binding proteins. It has been proposed that this complementation factor functions as an RNA-binding subunit and docks APOBEC-1 to deaminate the upstream cytidine. Studies suggest that the protein may also be involved in other RNA editing or RNA processing events. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
A1CF (APOBEC1 Complementation Factor) is a Protein Coding gene. Diseases associated with A1CF include Anisometropia and Suppression Amblyopia. Among its related pathways are Gene Expression and mRNA Editing- C to U Conversion. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is RBM47.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH10J050882 | Promoter/Enhancer | 1.6 | EPDnew Ensembl ENCODE | 600.7 | +1.1 | 1055 | 4.1 | GATAD2A ATF7 REST TFE3 SOX13 RCOR2 RBFOX2 RXRB IRF2 SP1 | A1CF SGMS1 ASAH2 ASAH2B piR-43939-005 | |
GH10J050859 | Promoter | 0.3 | EPDnew | 611.7 | +25.7 | 25672 | 0.1 | A1CF piR-43939-005 ENSG00000229711 ASAH2B | ||
GH10J050807 | Enhancer | 0.8 | Ensembl | 10.1 | +77.3 | 77284 | 0.8 | GATAD2A RFX5 FOXA1 SP1 CEBPA FOXK2 SOX13 RFX3 FOXA2 MAFF | ASAH2B A1CF lnc-SGMS1-5 ENSG00000229711 | |
GH10J050857 | Enhancer | 0.5 | Ensembl | 11.7 | +28.0 | 27974 | 1 | PRDM10 SP1 TCF7L2 YY1 HNF4A RXRA MAX EGR1 | A1CF piR-43939-005 ENSG00000229711 ASAH2B | |
GH10J050851 | Enhancer | 0.3 | ENCODE | 11.2 | +34.8 | 34759 | 0.2 | EZH2 | A1CF ENSG00000229711 piR-43939-005 ASAH2B |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003723 | RNA binding | TAS,IBA | 21873635 |
GO:0003725 | NOT double-stranded RNA binding | IDA | 11871661 |
GO:0003727 | single-stranded RNA binding | IDA | 11871661 |
GO:0003729 | mRNA binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IEA,IDA | 12881431 |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0030895 | apolipoprotein B mRNA editing enzyme complex | IDA | 10781591 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | mRNA Editing- C to U Conversion |
.82
|
|
2 | Gene Expression |
.48
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006397 | mRNA processing | IEA | -- |
GO:0007566 | embryo implantation | IEA | -- |
GO:0010609 | mRNA localization resulting in posttranscriptional regulation of gene expression | IEA | -- |
GO:0016554 | cytidine to uridine editing | TAS | -- |
GO:0016556 | mRNA modification | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||
SP5: | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | A1CF 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | A1CF 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | A1CF 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | A1cf 30 |
|
||
Mouse (Mus musculus) |
Mammalia | A1cf 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | A1CF 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | A1CF 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | A1CF 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | A1CF 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | a1cf 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | a1cf 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG17838 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | hrp-2 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
754730 | Likely Benign: not provided | 50,814,037(-) | C/T | SYNONYMOUS_VARIANT | |
774682 | Benign: not provided | 50,816,265(-) | G/A | SYNONYMOUS_VARIANT | |
779433 | Likely Benign: not provided | 50,814,012(-) | C/T | MISSENSE_VARIANT | |
781673 | Benign: not provided | 50,843,994(-) | A/G | SYNONYMOUS_VARIANT | |
786157 | Benign: not provided | 50,836,093(-) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2658700 | CNV | deletion | 23128226 |
esv3623216 | CNV | loss | 21293372 |
esv3623217 | CNV | loss | 21293372 |
nsv1035197 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
anisometropia |
|
|
suppression amblyopia |
|
|
amblyopia |
|
|
epithelial-stromal tgfbi dystrophy |
|
|
lattice corneal dystrophy |
|
|