APOBEC1 - apolipoprotein B mRNA editing enzyme catalytic subunit 1 Gene

Homo sapiens

Also known as BEDP; HEPR; CDAR1; APOBEC-1

Gene ID: 339 | Gene type: protein coding

About APOBEC1

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:7,649,400-7,670,599 (from NCBI)

This gene has 2 transcripts (splice variants), 143 orthologues and 9 paralogues. Biased expression in duodenum (RPKM 22.2), small intestine (RPKM 18.5) and 1 other tissue.

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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]

APOBEC1 Products(3)

mRNA	Protein	Name
NM_001304566.1	NP_001291495.1	C->U-editing enzyme APOBEC-1 isoform a
NM_001644.5	NP_001635.2	C->U-editing enzyme APOBEC-1 isoform a
NM_005889.4	NP_005880.2	C->U-editing enzyme APOBEC-1 isoform b

APOBEC1 Protein Structure

APOBEC_N

0
100
200
236 a.a.

Protein Preferred Names

Protein Names

C->U-editing enzyme APOBEC-1

apolipoprotein B mRNA editing enzyme complex-1

Related Diseases

Diseases

Alias

Neurofibromatosis

Neurofibromatoses	Acoustic Neurofibromatosis
Central Neurofibromatosis	Peripheral Neurofibromatosis
Recklinghausen'S Neurofibromatosis	Von Reklinghausen Disease
Neurofibromatosis Type 1

Immunodeficiency With Hyper-Igm, Type 2

HIGM2	Hyper-Igm Syndrome Type 2
Hyper-Igm Syndrome 2	Immunodeficiency With Hyper-Igm Type 2
Activation-Induced Cytidine Deaminase Deficiency	Aid Deficiency
Immunodeficiency With Hyper Igm Type 2	Hyper Igm Syndrome 2
Immunodeficiency With Hyper-Igm 2	Hyper-Igm Immunodeficiency Type 2
Immunodeficiency, With Hyper Igm, Type 2	Hyper-Igm Immunodeficiency Syndrome, Type 2

Immunodeficiency With Hyper-Igm, Type 1

Immunodeficiency, X-Linked, With Hyper-Igm	Hyper Igm Syndrome
HIGM1	Xhim
Hyper-Igm Syndrome	Higm
Hyper-Igm Syndrome 1	Immunodeficiency 3
Imd3	Immunodeficiency With Hyper-Igm
Immunodeficiency With Hyper Igm Type 1	Ihis
X-Linked Hyper Igm Syndrome	Hyper-Igm Immunodeficiency, X-Linked
Hyper Igm Immunodeficiency, X-Linked	Hyper Igm Syndrome 1
X-Linked Immunodeficiency With Hyper-Igm 1	Immunodeficiency, With Hyper Igm
Immunodeficiency, With Hyper Igm, Type 1	Hyper-Igm Immunodeficiency Syndrome, Type 1
Hyperimmunoglobulin M Syndrome

Neurofibromatosis, Type I

Von Recklinghausen Disease	Neurofibromatosis 1
Neurofibromatosis, Type 1	NF1
Neurofibromatosis, Peripheral Type	Neurofibromatosis Type I
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Familial Spinal Neurofibromatosis
Fsnf	Peripheral Neurofibromatosis
Von Recklinghausen'S Neurofibromatosis	Von Recklinghausen Disease Due To Nf1 Mutation Or Intragenic Deletion
Neurofibromatosis Peripheral Type	Von Recklinghausen Syndrome
Neurofibromatosis Type 1	Von Recklinghausen Neuropathy
Nf1 - [Neurofibromatosis Type 1]	Recklinghausen Disease

Immune Deficiency Disease

Immunodeficiency	Primary Immunodeficiency
Primary Immunodeficiency Disease	Immunologic Deficiency Syndromes
Hypoimmunity	Immune Deficiency Disorder
Immunodeficiency Syndrome	Immune Disorder
Primary Immune Deficiency Disorder	Immune System Diseases
Human Immunodeficiency Virus Infection	Hiv - [Human Immunodeficiency Virus Infection]
Hiv Positive Nos	Hiv Disease
Acquired Immune Deficiency Syndrome-Related Complex	Aids-Like Syndrome
Aids-Related Complex Nos	Arc - [Aids-Related Complex]
Immunodeficiency Due To Human Immunodeficiency Virus Infection	Unspecified Human Immunodeficiency Virus Disease
Hiv Disease Nos	Human Immunodeficiency Virus Positive Nos
Hiv Nos	Deficiency Of Complement Initial Pathway
Deficiency Of Complement Terminal Pathway	Cfdd - [Complement Factor D Deficiency]
Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency	Nonfamilial Hypogammaglobulinaemia
Common Variable Immune Deficiency	Nonfamilial Agammaglobulinaemia
Common Variable Agammaglobulinaemia	Agammaglobulinaemia Nos
Agammaglobulinaemia Antibody Deficiency Syndrome	Hypogammaglobulinaemia Antibody Deficiency Syndrome
Acquired Agammaglobulinaemia Nos	Hypogammaglobulinaemia Nos
Hyper Igm

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00834	APOBEC1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	APOBEC1	MGD	MGI:103298
Bos taurus	APOBEC1	VGNC	VGNC:26027
Rattus norvegicus	APOBEC1	RGD	RGD:2133
Canis familiaris	APOBEC1	VGNC	VGNC:37995

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