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

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 164668
• Gene name: Apolipoprotein B mRNA editing enzyme catalytic subunit 3H
• Gene symbol: APOBEC3H
• Synonyms (NCBI Gene): A3H, ARP-10, ARP10
• 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

miRNA Show/Hide all (8)

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO) 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

Other IDs

• MIM: 610976
• HGNC: 24100
• e!Ensembl: ENSG00000100298

Protein

• UniProt ID: 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

Pathways

KEGG Pathway	Reactome Pathway
Viral life cycle - HIV-1	mRNA Editing: C to U Conversion
Human immunodeficiency virus 1 infection	Formation of the Editosome

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	38685053	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (14)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
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

Related Genes

Sort by: Blended Diseases Pathways Evidence source

APOBEC3A_B 4 shared pathwaysViral life cycle - HIV-1, Human immunodeficiency virus 1 infection, mRNA Editing: C to U Conversion, Formation of the Editosome Related via 4 shared pathways including Viral life cycle - HIV-1, Human immunodeficiency virus 1 infection. APOBEC3A 4 shared pathwaysViral life cycle - HIV-1, Human immunodeficiency virus 1 infection, mRNA Editing: C to U Conversion, Formation of the Editosome Related via 4 shared pathways including Viral life cycle - HIV-1, Human immunodeficiency virus 1 infection. APOBEC3C 4 shared pathwaysViral life cycle - HIV-1, Human immunodeficiency virus 1 infection, mRNA Editing: C to U Conversion, Formation of the Editosome Related via 4 shared pathways including Viral life cycle - HIV-1, Human immunodeficiency virus 1 infection. APOBEC3B 4 shared pathwaysViral life cycle - HIV-1, Human immunodeficiency virus 1 infection, mRNA Editing: C to U Conversion, Formation of the Editosome Related via 4 shared pathways including Viral life cycle - HIV-1, Human immunodeficiency virus 1 infection. APOBEC3D 2 shared pathwaysViral life cycle - HIV-1, Human immunodeficiency virus 1 infection Related via 2 shared pathways including Viral life cycle - HIV-1, Human immunodeficiency virus 1 infection.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
APOBEC3A_B	0	[]	4	["Viral life cycle - HIV-1","Human immunodeficiency virus 1 infection","mRNA Editing: C to U Conversion","Formation of the Editosome"]	0	[]
APOBEC3A	0	[]	4	["Viral life cycle - HIV-1","Human immunodeficiency virus 1 infection","mRNA Editing: C to U Conversion","Formation of the Editosome"]	0	[]
APOBEC3C	0	[]	4	["Viral life cycle - HIV-1","Human immunodeficiency virus 1 infection","mRNA Editing: C to U Conversion","Formation of the Editosome"]	0	[]
APOBEC3B	0	[]	4	["Viral life cycle - HIV-1","Human immunodeficiency virus 1 infection","mRNA Editing: C to U Conversion","Formation of the Editosome"]	0	[]
APOBEC3D	0	[]	2	["Viral life cycle - HIV-1","Human immunodeficiency virus 1 infection"]	0	[]

Diseases Linked via Similar Genes

Breast neoplasms Linked via 2 of 5 related genesAPOBEC3A, APOBEC3B Non-organic psychosis Linked via 2 of 5 related genesAPOBEC3A, APOBEC3C Psychotic disorders Linked via 2 of 5 related genesAPOBEC3A, APOBEC3C Juvenile arthritis Linked via 1 of 5 related genesAPOBEC3A Atrial fibrillation Linked via 1 of 5 related genesAPOBEC3A

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Breast neoplasms	2	["APOBEC3A","APOBEC3B"]
Non-organic psychosis	2	["APOBEC3A","APOBEC3C"]
Psychotic disorders	2	["APOBEC3A","APOBEC3C"]
Juvenile arthritis	1	["APOBEC3A"]
Atrial fibrillation	1	["APOBEC3A"]