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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	164668
Gene name	Apolipoprotein B mRNA editing enzyme catalytic subunit 3H
Gene symbol	APOBEC3H
Synonyms (NCBI Gene)	A3HARP-10ARP10
Chromosome	22
Chromosome location	22q13.1
Summary	This gene encodes a member of the apolipoprotein B mRNA-editing enzyme catalytic polypeptide 3 family of proteins. The encoded protein is a cytidine deaminase that has antiretroviral activity by generating lethal hypermutations in viral genomes. Polymorph

Show/Hide all (8)

miRTarBase ID	miRNA	Experiments
MIRT789974	hsa-miR-1290	CLIP-seq
MIRT789975	hsa-miR-3167	CLIP-seq
MIRT789976	hsa-miR-499a-5p	CLIP-seq
MIRT789977	hsa-miR-876-5p	CLIP-seq
MIRT789978	hsa-miR-224	CLIP-seq
MIRT789976	hsa-miR-499a-5p	CLIP-seq
MIRT2384323	hsa-miR-1193	CLIP-seq
MIRT2384324	hsa-miR-3675-5p	CLIP-seq

Show/Hide all (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000932	Component	P-body	IBA
GO:0000932	Component	P-body	IDA	22915799
GO:0000932	Component	P-body	IEA
GO:0002376	Process	Immune system process	IEA
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	IDA	16571802, 29290613
GO:0004126	Function	Cytidine deaminase activity	IEA
GO:0005515	Function	Protein binding	IPI	22915799
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	18779051
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	29290613
GO:0005737	Component	Cytoplasm	IDA	18779051, 21835787
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010526	Process	Transposable element silencing	IDA	18779051
GO:0010526	Process	Transposable element silencing	IEA
GO:0010526	Process	Transposable element silencing	IMP	18827027
GO:0016554	Process	Cytidine to uridine editing	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0044355	Process	Clearance of foreign intracellular DNA	IDA	20062055
GO:0044355	Process	Clearance of foreign intracellular DNA	IEA
GO:0044828	Process	Host-mediated suppression of viral genome replication	IMP	18827027
GO:0045071	Process	Negative regulation of viral genome replication	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0045869	Process	Negative regulation of single stranded viral RNA replication via double stranded DNA intermediate	IBA
GO:0045869	Process	Negative regulation of single stranded viral RNA replication via double stranded DNA intermediate	IDA	18779051, 21835787, 29290613
GO:0046872	Function	Metal ion binding	IEA
GO:0051607	Process	Defense response to virus	IBA
GO:0051607	Process	Defense response to virus	IDA	21835787, 22457529, 22915799, 29290613
GO:0051607	Process	Defense response to virus	IEA
GO:0070383	Process	DNA cytosine deamination	IBA
GO:0070383	Process	DNA cytosine deamination	IDA	16571802, 21835787

MIM	HGNC	e!Ensembl
610976	24100	ENSG00000100298

Q6NTF7

Protein name

DNA dC->dU-editing enzyme APOBEC-3H (EC 3.5.4.38) (APOBEC-related protein 10) (ARP-10) (Apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 3H) (A3H)

Protein function

DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms (PubMed:16571802, PubMed:16920826, PubMed:18779051, PubMed:18827027, PubMed:

PDB

5W45 , 6B0B , 6BBO , 8FVI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18771	APOBEC3	23 → 157	APOBEC3	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in lymphoid organs. Also detected in non-lymphoid tissues including lung, testis, ovary, fetal liver and skin. {ECO:0000269|PubMed:16571802, ECO:0000269|PubMed:20308164}.

Sequence

MALLTAETFRLQFNNKRRLRRPYYPRKALLCYQLTPQNGSTPTRGYFENKKKCHAEICFI
NEIKSMGLDETQCYQVTCYLTWSPCSSCAWELVDFIKAHDHLNLGIFASRLYYHWCKPQQ
KGLRLLCGSQVPVEVMGFPEFADCWENFVDHEKPLSFNPYKMLEELDKNSRAIKRRLERI
KIPGVRAQGRYMDILCDAEV

Sequence length

200

Interactions

View interactions

	KEGG		Reactome
	Viral life cycle - HIV-1 Human immunodeficiency virus 1 infection		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 (1)

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.
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (14)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Neoplasms	Breast neoplasm	Pubtator	27650891	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31322199	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	36970060	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26459911, 27650891		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	40191862	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	16571802, 29267382, 30060196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31322199		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26459911	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26459911	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26459911, 27650891		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29290613		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26459911		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32775421	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	33048468, 33685397	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

APOBEC3H (apolipoprotein B mRNA editing enzyme catalytic subunit 3H)