APOBEC1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 [Homo sapiens] - Gene

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Summary

Official Symbol: APOBEC1provided by HGNC
Official Full Name: apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1provided by HGNC
Primary source: HGNC:604
See related: Ensembl:ENSG00000111701; HPRD:02531; MIM:600130; Vega:OTTHUMG00000141288
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: BEDP; HEPR; CDAR1; APOBEC-1
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 of C-to-U nucleotide bases in apolipoprotein B and neurofibromatosis-1 mRNAs. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 12p13.1

Sequence :: Chromosome: 12; NC_000012.11 (7801996..7818502, complement)

See APOBEC1 in Epigenomics, MapViewer

Chromosome 12 - NC_000012.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Studies indicate the APOBEC family consists of 11 members: APOBEC-1 (Apo1), APOBEC-2 (Apo2), activation induced cytidine deaminase (AID), APOBEC- 3A, -3B, -3C, -3DE, -3F, -3H (Apo3A-H) and APOBEC- 4 (Apo4).
Title: APOBEC deaminases-mutases with defensive roles for immunity.
The hypermutation activity of APOBEC-1 was decreased to background levels by a single point APOBEC-1 mutation of P29F or E181Q, while 50% of wild-type control editing at the normal site was retained.
Title: Hypermutation induced by APOBEC-1 overexpression can be eliminated.
The data presented in this report suggested that similar regulatory mechanisms controlling the functional interaction of APOBEC-1 with ACF might be operational during enterocyte differentiation.
Title: The expression of apoB mRNA editing factors is not the sole determinant for the induction of editing in differentiating Caco-2 cells.
Identified two novel variants, rs1349411 (APOBEC1) and rs1424032, for serum apoB levels in Mexicans.
Title: Identification of two common variants contributing to serum apolipoprotein B levels in Mexicans.
Observational study of gene-disease association. (HuGE Navigator)
Title: Large-scale candidate gene analysis of spontaneous clearance of hepatitis C virus.
No evidence of association of APOBEC1 and PPARG with gallstone susceptibility was detected.
Title: Investigation of the Lith6 candidate genes APOBEC1 and PPARG in human gallstone disease.
apobec-1-mediated apoB mRNA editing is regulated by BAG-4
Title: Involvement of a chaperone regulator, Bcl2-associated athanogene-4, in apolipoprotein B mRNA editing.
APOBEC3G is not a nucleo-cytoplasmic shuttling protein like APOBEC-1 and activation-induced cytidine deaminase
Title: APOBEC-1 and AID are nucleo-cytoplasmic trafficking proteins but APOBEC3G cannot traffic.
determination of multifunctional cycle and suppression of nonsense-mediated decay
Title: The apolipoprotein B mRNA editing complex performs a multifunctional cycle and suppresses nonsense-mediated decay.

Submit: New GeneRIF Correction See all (15)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
P41238	Apobec 1 complementation factor	A1CF	HPRD	PubMed
P41238	Q9Y235	APOBEC2	HPRD	PubMed
P41238	O95429	BAG4	HPRD	PubMed
P41238	CUG triplet repeat RNA binding protein 2	CELF2	HPRD	PubMed
P41238	Q9UBS4	DNAJB11	HPRD	PubMed
P41238	P52292	KPNA2	HPRD	PubMed
BioGRID:106836	BioGRID:119004	A1CF	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:106836	BioGRID:106836	APOBEC1	BioGRID	PubMed	Reconstituted Complex
BioGRID:106836	BioGRID:116133	APOBEC2	BioGRID	PubMed	Far Western
BioGRID:106836	BioGRID:114906	BAG4	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:106836	BioGRID:675146	CELF2	BioGRID	PubMed	Two-hybrid
BioGRID:106836	BioGRID:119699	DNAJB11	BioGRID	PubMed	Reconstituted Complex
BioGRID:106836	BioGRID:110036	KPNA2	BioGRID	PubMed	Two-hybrid
BioGRID:106836	BioGRID:115755	SYNCRIP	BioGRID	PubMed	Reconstituted Complex; Two-hybrid

Function	Evidence Code	Pubs
AU-rich element binding	IEA Inferred from Electronic Annotation more info
RNA binding	TAS Traceable Author Statement more info	PubMed
cytidine deaminase activity	TAS Traceable Author Statement more info	PubMed
hydrolase activity	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
DNA demethylation	ISS Inferred from Sequence or Structural Similarity more info
RNA processing	TAS Traceable Author Statement more info	PubMed
cellular response to insulin stimulus	IEA Inferred from Electronic Annotation more info
cytidine deamination	TAS Traceable Author Statement more info	PubMed
cytidine to uridine editing	TAS Traceable Author Statement more info
defense response to virus	IEA Inferred from Electronic Annotation more info
gene expression	TAS Traceable Author Statement more info
lipid metabolic process	TAS Traceable Author Statement more info	PubMed
lipoprotein biosynthetic process	IEA Inferred from Electronic Annotation more info
lipoprotein transport	IEA Inferred from Electronic Annotation more info
mRNA modification	TAS Traceable Author Statement more info
mRNA processing	IEA Inferred from Electronic Annotation more info
mRNA stabilization	IEA Inferred from Electronic Annotation more info
negative regulation of methylation-dependent chromatin silencing	ISS Inferred from Sequence or Structural Similarity more info
regulation of cell proliferation	IEA Inferred from Electronic Annotation more info
response to calcium ion	IEA Inferred from Electronic Annotation more info
response to drug	IEA Inferred from Electronic Annotation more info
response to ethanol	IEA Inferred from Electronic Annotation more info
response to gamma radiation	IEA Inferred from Electronic Annotation more info
response to osmotic stress	IEA Inferred from Electronic Annotation more info
response to zinc ion	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
nucleoplasm	TAS Traceable Author Statement more info

General protein information

Preferred Names: C->U-editing enzyme APOBEC-1

Names: C->U-editing enzyme APOBEC-1; apolipoprotein B mRNA-editing enzyme 1; apolipoprotein B mRNA editing enzyme complex-1

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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.

mRNA and Protein(s)

NM_001644.3 → NP_001635.2 C->U-editing enzyme APOBEC-1

Status: REVIEWED

Source sequence(s)

AC006927, AI862416, L26234, U72891

Consensus CDS

CCDS8579.1

UniProtKB/Swiss-Prot

P41238

Related

ENSP00000229304, OTTHUMP00000180598, ENST00000229304, OTTHUMT00000280523

Conserved Domains (3) summary

cd01283
Location:33 – 105
Blast Score: 96

cytidine_deaminase; Cytidine deaminase zinc-binding domain. These enzymes are Zn dependent. The zinc ion in the active site plays a central role in the proposed catalytic mechanism, activating a water molecule to form a hydroxide ion that performs a nucleophilic attack on ...

pfam05240
Location:124 – 178
Blast Score: 196

APOBEC_C; APOBEC-like C-terminal domain

pfam08210
Location:24 – 186
Blast Score: 403

APOBEC_N; APOBEC-like N-terminal domain

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000012.11 Reference GRCh37.p5 Primary Assembly

Range

7801996..7818502, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000144.1 Alternate HuRef

Range

7615551..7632073, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_005889.2: Suppressed sequence

Description

NM_005889.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AB009426.2	BAA23882.1
genomic	AC006927.27 (57872..74379)	None
genomic	CH471116.2	EAW88660.1
		EAW88661.1
mRNA	AI862416.1	None
mRNA	BC096158.1	AAH96158.1
mRNA	BC096159.1	None
mRNA	BC096160.1	None
mRNA	BC096161.1	None
mRNA	BC101404.1	None
mRNA	BC101405.1	None
mRNA	BC101972.1	AAI01973.1
mRNA	BC101973.1	AAI01974.1
mRNA	BC144708.1	None
mRNA	L25877.1	AAA86766.1
mRNA	L26234.1	AAA64230.1
mRNA	U72890.1	AAD09567.1
mRNA	U72891.1	AAD00185.1
mRNA	U78720.1	AAD10701.1
other-genetic	BC172305.1	AAI72305.1