AK3 - adenylate kinase 3 Gene

Homo sapiens

Also known as AK6; FIX; AK3L1; AKL3L; AKL3L1

Gene ID: 50808 | Gene type: protein coding

About AK3

Cytogenetic location: 9p24.1 Genomic coordinates (GRCh38): 9:4,709,556-4,742,043 (from NCBI)

This gene has 4 transcripts (splice variants), 230 orthologues and 9 paralogues. Ubiquitous expression in liver (RPKM 32.7), fat (RPKM 26.9) and 25 other tissues.

Summary

The protein encoded by this gene is a GTP:ATP phosphotransferase that is found in the mitochondrial matrix. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]

AK3 Products(5)

mRNA	Protein	Name
NM_001199852.2	NP_001186781.1	GTP:AMP phosphotransferase AK3, mitochondrial isoform b
NM_001199853.2	NP_001186782.1	GTP:AMP phosphotransferase AK3, mitochondrial isoform c
NM_001199855.2	NP_001186784.1	GTP:AMP phosphotransferase AK3, mitochondrial isoform c
NM_001199856.2	NP_001186785.1	GTP:AMP phosphotransferase AK3, mitochondrial isoform c
NM_016282.4	NP_057366.2	GTP:AMP phosphotransferase AK3, mitochondrial isoform a

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
NOT enables adenylate kinase activity	IDA IDA: Inferred from direct assay	11485571	GOA
enables nucleoside triphosphate adenylate kinase activity	EXP EXP: Inferred from Experiment	218813	GOA
enables nucleoside triphosphate adenylate kinase activity	IDA IDA: Inferred from direct assay	11485571	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in AMP metabolic process	IDA IDA: Inferred from direct assay	11485571	GOA
involved in GTP metabolic process	IDA IDA: Inferred from direct assay	11485571	GOA
involved in ITP metabolic process	IDA IDA: Inferred from direct assay	11485571	GOA
involved in UTP metabolic process	IDA IDA: Inferred from direct assay	11485571	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AK3 Protein Structure

ADK

ADK_lid

0
100
200
227 a.a.

Protein Preferred Names

Protein Names

GTP:AMP phosphotransferase AK3, mitochondrial

GTP:AMP phosphotransferase, mitochondrial

Recombinant AK3 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71645	AK3 Protein, Human (Myc, His)	Q9UIJ7-1 (M1-P227)	≥95%

Related Diseases

Diseases

Alias

Reticular Dysgenesis

Severe Combined Immunodeficiency With Leukopenia	De Vaal Disease
Congenital Aleukia	Aleukocytosis
Hematopoietic Hypoplasia, Generalized	Reticular Dysgenesia
Devaal Disease	Rd
Ak2 Deficiency	Congenital Aleukocytosis
Generalized Hematopoietic Hypoplasia	Scid With Leukopenia
RDYS

Orofacial Cleft 8

OFC8	Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 8
Non-Syndromic Cleft Lip/Palate 8	Non-Syndromic Cleft Lip With Or Without Cleft Palate 8
Orofacial Cleft, Type 8

Amyloidosis, Familial Visceral

Ostertag Type Amyloidosis	German Type Amyloidosis
Familial Renal Amyloidosis	Amyloidosis Viii
Amyloidosis, 3 Or More Types	Familial Visceral Amyloidosis
Familial Amyloid Nephropathy	Hereditary Amyloid Nephropathy
Amyloidosis, Familial Renal	Amyloidosis, Systemic Nonneuropathic
Amyloidosis Familial Visceral	Amyloidosis 8
Amyloidosis, Ostertag Type	Hereditary Amyloidosis With Primary Renal Involvement
Hereditary Renal Amyloidosis	Renal Amyloidosis
Amyloidosis, Renal	Systemic Nonneuropathic Amyloidosis
Amyloidosis Familial Renal	Amyloidosis Systemic Nonneuropathic
Hereditary Amyloidosis With Primary Renal Involement	AMYL8
Systemic Non-Neuropathic Amyloidosis	Amyloid Nephropathy

Schizophrenia 1

SCZD1	Schizophrenia Susceptibility Locus, Chromosome 5-Related
Schizophrenia 1 With Or Without An Affective Disorder

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 (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-119240	CCT020312	Activator	99.28%	Unkown
HY-RS00507	AK3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS04244	EIF2AK3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS04245	Eif2ak3 Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS04246	Eif2ak3 Rat Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	AK3	VGNC	VGNC:25772
Mus musculus	AK3	MGD	MGI:1860835
Macaca mulatta	AK3	VGNC	VGNC:69623
Felis catus	AK3	VGNC	VGNC:102897
Rattus norvegicus	AK3	RGD	RGD:619885
Others	AK3	NCBI

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