APOBEC3C apolipoprotein B mRNA editing enzyme catalytic subunit 3C [Homo sapiens (human)] - Gene

Summary

Official Symbol: APOBEC3Cprovided by HGNC
Official Full Name: apolipoprotein B mRNA editing enzyme catalytic subunit 3Cprovided by HGNC
Primary source: HGNC:HGNC:17353
See related: Ensembl:ENSG00000244509 MIM:607750; AllianceGenome:HGNC:17353
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: A3C; PBI; ARP5; ARDC2; ARDC4; APOBEC1L; bK150C2.3
Summary: This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in lymph node (RPKM 33.1), testis (RPKM 26.8) and 24 other tissues See more
Orthologs: all
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Genomic context

Location:: 22q13.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (39014257..39020352)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (39484669..39490772)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (39410262..39416357)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The cytidine deaminase APOBEC3C has unique sequence and genome feature preferences.
Title: The cytidine deaminase APOBEC3C has unique sequence and genome feature preferences.
APOBEC3C is a novel target for the immune treatment of lower-grade gliomas.
Title: APOBEC3C is a novel target for the immune treatment of lower-grade gliomas.
The role of APOBEC3C in modulating the tumor microenvironment and stemness properties of glioma: evidence from pancancer analysis.
Title: The role of APOBEC3C in modulating the tumor microenvironment and stemness properties of glioma: evidence from pancancer analysis.
Low Expression of A3C and PLP2 Indicating a Favorable Prognosis in Human Gliomas.
Title: Low Expression of A3C and PLP2 Indicating a Favorable Prognosis in Human Gliomas.
Quantification of APOBEC3 Mutation Rates Affecting the VP1 Gene of BK Polyomavirus In Vivo.
Title: Quantification of APOBEC3 Mutation Rates Affecting the VP1 Gene of BK Polyomavirus In Vivo.
APOBEC3C S188I Polymorphism Enhances Context-Specific Editing of Hepatitis B Virus Genome.
Title: APOBEC3C S188I Polymorphism Enhances Context-Specific Editing of Hepatitis B Virus Genome.
Evaluation of APOBEC3 expression as prognostic marker in squamous cell carcinoma of the penis.
Title: Evaluation of APOBEC3 expression as prognostic marker in squamous cell carcinoma of the penis.
Expression patterns of LncRNA-GAS5 and its target APOBEC3C gene through miR-103 in breast cancer patients.
Title: Expression patterns of LncRNA-GAS5 and its target APOBEC3C gene through miR-103 in breast cancer patients.
APOBEC3C, a nucleolar protein induced by genotoxins, is excluded from DNA damage sites.
Title: APOBEC3C, a nucleolar protein induced by genotoxins, is excluded from DNA damage sites.
APOBEC3-induced mutation of the hepatitis virus B DNA genome occurs during its viral RNA reverse transcription into (-)-DNA.
Title: APOBEC3-induced mutation of the hepatitis virus B DNA genome occurs during its viral RNA reverse transcription into (-)-DNA.

Submit: New GeneRIF Correction See all GeneRIFs (50)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	Single-virion fluorescence microscopy analysis demonstrates that the efficiency of A3G-YFP and A3F-YFP incorporation into HIV-1 Gag-CeFP virions is higher than that of A3C-YFP incorporation into HIV-1 Gag-CeFP virions	PubMed
	gag	Interaction of APOBEC3C with HIV-1 Gag is required for its incorporation into Vif(-) virions and the interaction between APOBEC3C and Gag is MA domain-dependent and 7SL RNA-dependent	PubMed
Vif	vif	HIV-1 Vif degrades APOBEC3C and APOBEC3F and is dependent on Vif F1, F2, and F3 box mutations involving residues D14, R15, M16, W79, D172, and W174	PubMed
	vif	HIV-1 Vif degrades APOBEC3F and APOBEC3C	PubMed
	vif	HIV-1 Vif internal amino acid salt bridge (E171-K167-D101) mediates human APOBEC3C and APOBEC3F degradation	PubMed
	vif	APOBEC3C restricts HIV-1 replication by causing G to A mutations in viral DNA replication intermediates; HIV-1 Vif binds to and destabilizes APOBEC3C	PubMed
	vif	APOBEC3C levels in virus particles are increased when the virus particles are produced from N.41 treated 293T cells in the presence of Vif expression	PubMed
	vif	Immunoblotting and crystal structure analyses reveal ten amino acids L72, F75, C76, I79, L80, S81, Y86, E106, F107, and H111 between the alpha 2 and alpha 3 helices of APOBEC3C are involved in forming the Vif-interaction interface	PubMed
	vif	CBF-beta-mediated increase of HIV-1 Vif steady-state levels results in decreased cellular levels of all Vif-sensitive APOBEC proteins (A3C, A3D, A3F, A3G, and A3H haplotype II)	PubMed
	vif	A potent small molecular compound VEC-5 protects APOBEC3G, APOBEC3F, and APOBEC3C from HIV-1 Vif-induced degradation and enhances A3G incorporation into HIV-1 virions by inhibiting the interaction between Vif and elongin C	PubMed
	vif	Stress causes A3A, A3B, A3C, and A3F to co-localize efficiently with Vif(IIIB) and mRNA-PABP1 complexes in stress granules	PubMed
	vif	Vif(IIIB) induces A3A, A3B, and A3C emigration from the nucleus to the cytosol and thereby causes net increases in their cytosolic concentrations and anti-HIV-1 activities	PubMed
	vif	Small molecule RN-18 specifically inhibits HIV-1 Vif-mediated downregulation of APOBEC3C/F/G proteins by decreasing Vif protein levels when Vif interacts with these proteins	PubMed
	vif	A novel conserved 69YXXL72 motif in HIV-1 Vif regulates A3C expression in cells	PubMed
	vif	The LV portion of the Vif SLV/Ix4Yx9Y motif is required for optimal suppression of A3C or A3DE	PubMed
	vif	HIV-1 Vif K22E and RH41/42AA mutants are able to suppress the anti-viral activity of A3C, but are ineffective in suppressing the anti-viral activity of A3G. K22, R41, and H42 residues are important for Vif-mediated degradation of A3G, but not A3C	PubMed
	vif	Amino acid E289 in the EFLARH sequence of A3C is critical for HIV-1 Vif-mediated degradation	PubMed
Vpr	vpr	HIV-1 Vpr upregulates the gene expression of APOBEC3C in human monocyte-derived macrophages	PubMed
matrix	gag	Interaction of APOBEC3C with HIV-1 Gag is required for its incorporation into Vif(-) virions and the interaction between APOBEC3C and Gag is MA domain-dependent and 7SL RNA-dependent	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-N58010 (e-PCR)
- UniSTS:79224

APOBEC3C__4342 (e-PCR)
- UniSTS:462737

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables cytidine deaminase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA cytosine deamination	IBA Inferred from Biological aspect of Ancestor more info
involved_in clearance of foreign intracellular DNA	IDA Inferred from Direct Assay more info	PubMed
involved_in cytidine deamination	IDA Inferred from Direct Assay more info	PubMed
involved_in cytidine to uridine editing	IBA Inferred from Biological aspect of Ancestor more info
involved_in defense response to virus	IBA Inferred from Biological aspect of Ancestor more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of single stranded viral RNA replication via double stranded DNA intermediate	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of viral genome replication	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression via chromosomal CpG island demethylation	IDA Inferred from Direct Assay more info	PubMed
involved_in transposable element silencing	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in P-body	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: DNA dC->dU-editing enzyme APOBEC-3C

Names: apolipoprotein B editing enzyme catalytic polypeptide-like 3C; apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C; phorbolin I; probable DNA dC->dU-editing enzyme APOBEC-3C

NP_055323.2

EC 3.5.4.38

NCBI Reference Sequences (RefSeq)

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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.