Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	339
Gene name	Apolipoprotein B mRNA editing enzyme catalytic subunit 1
Gene symbol	APOBEC1
Synonyms (NCBI Gene)	APO1APOBEC-1BEDPCDAR1HEPR
Chromosome	12
Chromosome location	12p13.31
Summary	This gene encodes a member of the cytidine deaminase enzyme family. The encoded protein forms a multiple-protein editing holoenzyme with APOBEC1 complementation factor (ACF) and APOBEC1 stimulating protein (ASP). This holoenzyme is involved in the editing

Show/Hide all (47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	IBA
GO:0003824	Function	Catalytic activity	IEA
GO:0004126	Function	Cytidine deaminase activity	IBA
GO:0004126	Function	Cytidine deaminase activity	IC	24916387
GO:0004126	Function	Cytidine deaminase activity	TAS	7736571
GO:0005515	Function	Protein binding	IPI	10669759, 24916387, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IC	24916387
GO:0005634	Component	Nucleus	IDA	12881431, 24916387
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	22580899
GO:0005737	Component	Cytoplasm	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0006629	Process	Lipid metabolic process	TAS	8078915
GO:0006641	Process	Triglyceride metabolic process	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	TAS	7736571
GO:0010332	Process	Response to gamma radiation	IEA
GO:0010556	Process	Regulation of macromolecule biosynthetic process	IEA
GO:0010604	Process	Positive regulation of macromolecule metabolic process	IEA
GO:0016554	Process	Cytidine to uridine editing	IBA
GO:0016554	Process	Cytidine to uridine editing	IDA	24916387, 30844405
GO:0016554	Process	Cytidine to uridine editing	IEA
GO:0016554	Process	Cytidine to uridine editing	TAS
GO:0016556	Process	MRNA modification	IDA	11134005
GO:0016556	Process	MRNA modification	IEA
GO:0016556	Process	MRNA modification	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030895	Component	Apolipoprotein B mRNA editing enzyme complex	IDA	24916387
GO:0034383	Process	Low-density lipoprotein particle clearance	IMP	15797858
GO:0035925	Function	MRNA 3'-UTR AU-rich region binding	IEA
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042157	Process	Lipoprotein metabolic process	IEA
GO:0042158	Process	Lipoprotein biosynthetic process	IEA
GO:0042953	Process	Lipoprotein transport	IEA
GO:0044029	Process	Positive regulation of gene expression via chromosomal CpG island demethylation	IEA
GO:0044029	Process	Positive regulation of gene expression via chromosomal CpG island demethylation	ISS
GO:0045293	Component	MRNA editing complex	NAS	11134005
GO:0046872	Function	Metal ion binding	IEA
GO:0048255	Process	MRNA stabilization	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0090209	Process	Negative regulation of triglyceride metabolic process	IEA
GO:0141166	Process	Chromosomal 5-methylcytosine DNA demethylation pathway	NAS	21496894
GO:1903311	Process	Regulation of mRNA metabolic process	IEA
GO:2000623	Process	Negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IDA	12881431

MIM	HGNC	e!Ensembl
600130	604	ENSG00000111701

P41238

Protein name

C->U-editing enzyme APOBEC-1 (EC 3.5.4.-) (Apolipoprotein B mRNA-editing enzyme catalytic subunit 1) (APO1) (APOBEC-1) (Apolipoprotein B mRNA-editing enzyme 1) (EC 3.5.4.36) (HEPR) (mRNA(cytosine(6666)) deaminase 1)

Protein function

Cytidine deaminase catalyzing the cytidine to uridine postranscriptional editing of a variety of mRNAs (PubMed:30844405). Form complexes with cofactors that confer differential editing activity and selectivity. Responsible for the postranscripti

PDB

6X91

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05240	APOBEC_C	108 → 186		Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed exclusively in the small intestine. {ECO:0000269|PubMed:8078915}.

Sequence

MTSEKGPSTGDPTLRRRIEPWEFDVFYDPRELRKEACLLYEIKWGMSRKIWRSSGKNTTN
HVEVNFIKKFTSERDFHPSMSCSITWFLSWSPCWECSQAIREFLSRHPGVTLVIYVARLF
WHMDQQNRQGLRDLVNSGVTIQIMRASEYYHCWRNFVNYPPGDEAHWPQYPPLWMMLYAL
ELHCIILSLPPCLKISRRWQNHLTFFRLHLQNCHYQTIPPHILLATGLIHPSVAWR

Sequence length

236

Interactions

View interactions

	Reactome
			mRNA Editing: C to U Conversion Formation of the Editosome

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)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (34)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	25085003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	25085003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	17875695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	28150227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	20976059, 31242230, 9633945		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	20976059, 31242230, 9633945		★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	25085003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10597235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10597235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	24292451	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	32545414	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	23609497		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	BEFREE	17696929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	17696929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	9797364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17875695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	BEFREE	29375302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29375302, 31105523		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	29375302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	9797364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	9598833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	25100733	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	17875695		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	18983852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10597235, 9633945		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	9633945		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	33330905	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25085003, 29346513, 31726973		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	9797364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	31544728		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11072063, 11727199, 17875695, 24317514, 25085003, 29346513		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	11072063, 11727199		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	LHGDN	11727199		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	27582469		★★★★★ ★☆☆☆☆ Found in Text Mining only

APOBEC1 (apolipoprotein B mRNA editing enzyme catalytic subunit 1)