Gene Gene information from NCBI Gene database.
Entrez ID 29974
Gene name APOBEC1 complementation factor
Gene symbol A1CF
Synonyms (NCBI Gene)
ACFACF64ACF65APOBEC1CFASP
Chromosome 10
Chromosome location 10q11.23
Summary 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
miRNA miRNA information provided by mirtarbase database.
547
miRTarBase ID miRNA Experiments Reference
MIRT709873 hsa-miR-4742-3p HITS-CLIP 19536157
MIRT709872 hsa-miR-4778-3p HITS-CLIP 19536157
MIRT709871 hsa-miR-4635 HITS-CLIP 19536157
MIRT709870 hsa-miR-4999-5p HITS-CLIP 19536157
MIRT709869 hsa-miR-630 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding IEA
GO:0003723 Function RNA binding TAS 10669759
GO:0003725 Function Double-stranded RNA binding IDA 11871661
GO:0003727 Function Single-stranded RNA binding IDA 11871661
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618199 24086 ENSG00000148584
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NQ94
Protein name APOBEC1 complementation factor (APOBEC1-stimulating protein)
Protein function Essential component of the apolipoprotein B mRNA editing enzyme complex which is responsible for the postranscriptional editing of a CAA codon for Gln to a UAA codon for stop in APOB mRNA. Binds to APOB mRNA and is probably responsible for docki
PDB 2CPD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 58 127 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 138 203 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 233 297 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF14709 DND1_DSRM 445 523 Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed with highest levels in brain, liver, pancreas, colon and spleen. {ECO:0000269|PubMed:10669759}.
Sequence
MESNHKSGDGLSGTQKEAALRALVQRTGYSLVQENGQRKYGGPPPGWDAAPPERGCEIFI
GKLPRDLFEDELIPLCEKIGKIYEMRMMMDFNGNNRGYAFVTFSNKVEAKNAIKQLNNYE
IRNGRLL
GVCASVDNCRLFVGGIPKTKKREEILSEMKKVTEGVVDVIVYPSAADKTKNRG
FAFVEYESHRAAAMARRKLLPGR
IQLWGHGIAVDWAEPEVEVDEDTMSSVKILYVRNLML
STSEEMIEKEFNNIKPGAVERVKKIRDYAFVHFSNREDAVEAMKALNGKVLDGSPIE
VTL
AKPVDKDSYVRYTRGTGGRGTMLQGEYTYSLGQVYDPTTTYLGAPVFYAPQTYAAIPSLH
FPATKGHLSNRAIIRAPSVREIYMNVPVGAAGVRGLGGRGYLAYTGLGRGYQVKGDKRED
KLYDILPGMELTPMNPVTLKPQGIKLAPQILEEICQKNNWGQPVYQLHSAIGQDQRQLFL
YKITIPALASQNPAIHPFTPPKLSAFVDEAKTYAAEYTLQTLG
IPTDGGDGTMATAAAAA
TAFPGYAVPNATAPVSAAQLKQAVTLGQDLAAYTTYEVYPTFAVTARGDGYGTF
Sequence length 594
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    mRNA Editing: C to U Conversion
Formation of the Editosome
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARTHRITIS, GOUTY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESSENTIAL TREMOR GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 12518376, 26457809, 28060110, 28440015, 29165013, 29217160
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 15022301
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 16320248
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 11819789, 15022301, 15666098
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 11819789
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 12518376, 28060110, 28440015, 29165013
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 12684256, 15033338, 15885796, 20132478
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 29735171
★☆☆☆☆
Found in Text Mining only
Arthritis, Gouty Gouty arthritis GWASDB_DG 23263486
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arthritis, Psoriatic Psoriatic Arthritis BEFREE 29735171
★☆☆☆☆
Found in Text Mining only