• Gene id: 339

Gene Summary

• Gene Symbol: APOBEC1   Gene   UCSC   Ensembl
• Aliases: APOBEC-1, BEDP, CDAR1, HEPR
• Gene name: apolipoprotein B mRNA editing enzyme catalytic subunit 1
• Alternate names: C->U-editing enzyme APOBEC-1, apolipoprotein B mRNA editing enzyme complex-1, apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1, apolipoprotein B mRNA-editing enzyme 1, mRNA(cytosine(6666)) deaminase 1,
• Gene location: 12p13.31 (7670598: 7649399)     Exons: 6     NC_000012.12
• Gene summary(Entrez): 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

SNPs

rs397515392

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.180661860C>G
NC_000003.11   g.180379648C>G
NG_029581.1   g.22636G>C|SEQ=[C/G]|GENE=CCDC39

rs1422627

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.45913480C>G
NC_000019.10   g.45913480C>T
NC_000019.9   g.46416738C>G
NC_000019.9   g.46416738C>T
NM_001029861.2   c.*797G>C
NM_001029861.2   c.*797G>A
NM_001029861.3   c.*797G>C
NM_001029861.3   c.*797G>A|SEQ=[C/G/T]|GENE=NANOS2

rs9304651

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.45916515A>G
NC_000019.9   g.46419773A>G|SEQ=[A/G]|GENE=NANOS2

rs2015728

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.45915628G>A
NC_000019.10   g.45915628G>T
NC_000019.9   g.46418886G>A
NC_000019.9   g.46418886G>T|SEQ=[G/A/T]|GENE=NANOS2

Protein Summary

• Protein general information: P41238  
  • Name: C >U editing enzyme APOBEC 1 (EC 3.5.4.36) (Apolipoprotein B mRNA editing enzyme 1) (HEPR) (mRNA(cytosine(6666)) deaminase 1)
  • Length: 236  
  • Mass: 28192
  • Tissue specificity: Expressed exclusively in the small intestine.
• Sequence:

  MTSEKGPSTGDPTLRRRIEPWEFDVFYDPRELRKEACLLYEIKWGMSRKIWRSSGKNTTNHVEVNFIKKFTSERD
  FHPSMSCSITWFLSWSPCWECSQAIREFLSRHPGVTLVIYVARLFWHMDQQNRQGLRDLVNSGVTIQIMRASEYY
  HCWRNFVNYPPGDEAHWPQYPPLWMMLYALELHCIILSLPPCLKISRRWQNHLTFFRLHLQNCHYQTIPPHILLA
  TGLIHPSVAWR

• Structural information:
  • Protein Domains: (10..13-)
    (/note="CMP/dCMP-type-deaminase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01083"-)
  • Interpro: IPR016192  IPR041547  IPR002125  IPR016193  
  • Prosite: PS00903 PS51747
  • STRING: ENSP00000229304
• Other Databases: GeneCards:  APOBEC1  Malacards:  APOBEC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003723	RNA binding	IBA	molecular function
GO:0004126	cytidine deaminase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0016554	cytidine to uridine editing	IBA	biological process
GO:0080111	DNA demethylation	IBA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0090310	negative regulation of DNA methylation-dependent heterochromatin assembly	ISS	biological process
GO:0080111	DNA demethylation	ISS	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0003723	RNA binding	TAS	molecular function
GO:0004126	cytidine deaminase activity	TAS	molecular function
GO:0008270	zinc ion binding	TAS	molecular function
GO:0006629	lipid metabolic process	TAS	biological process
GO:0006396	RNA processing	TAS	biological process
GO:0004126	cytidine deaminase activity	TAS	molecular function
GO:0016554	cytidine to uridine editing	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0090366	positive regulation of mRNA modification	IEA	biological process
GO:0051607	defense response to virus	IEA	biological process
GO:0051592	response to calcium ion	IEA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0032869	cellular response to insulin stimulus	IEA	biological process
GO:0016556	mRNA modification	IEA	biological process
GO:0010043	response to zinc ion	IEA	biological process
GO:0003729	mRNA binding	IEA	molecular function
GO:0090310	negative regulation of DNA methylation-dependent heterochromatin assembly	IEA	biological process
GO:0042953	lipoprotein transport	IEA	biological process
GO:0042158	lipoprotein biosynthetic process	IEA	biological process
GO:0042157	lipoprotein metabolic process	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0035925	mRNA 3'-UTR AU-rich region binding	IEA	molecular function
GO:0016556	mRNA modification	IEA	biological process
GO:0010332	response to gamma radiation	IEA	biological process
GO:0070383	DNA cytosine deamination	IEA	biological process
GO:0043021	ribonucleoprotein complex binding	IEA	molecular function
GO:0042493	response to drug	IEA	biological process
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0016554	cytidine to uridine editing	IEA	biological process
GO:0008047	enzyme activator activity	IEA	molecular function
GO:0006970	response to osmotic stress	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0004131	cytosine deaminase activity	IEA	molecular function
GO:0004126	cytidine deaminase activity	IEA	molecular function
GO:0090209	negative regulation of triglyceride metabolic process	IEA	biological process
GO:0080111	DNA demethylation	IEA	biological process
GO:0048255	mRNA stabilization	IEA	biological process
GO:0016554	cytidine to uridine editing	IEA	biological process
GO:0006641	triglyceride metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0043085	positive regulation of catalytic activity	IEA	biological process
GO:0009972	cytidine deamination	IEA	biological process
GO:0009972	cytidine deamination	IEA	biological process
GO:0009972	cytidine deamination	IEA	biological process
GO:0009972	cytidine deamination	IEA	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq