AK1 - adenylate kinase 1 Gene

Homo sapiens

Also known as HTL-S-58j

Gene ID: 203 | Gene type: protein coding

About AK1

Cytogenetic location: 9q34.11 Genomic coordinates (GRCh38): 9:127,866,480-127,879,621 (from NCBI)

This gene has 6 transcripts (splice variants), 207 orthologues, 9 paralogues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 35.4), lung (RPKM 29.7) and 25 other tissues.

Summary

This gene encodes an adenylate kinase Enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mutations in this gene resulting in a functionally inadequate Enzyme are associated with a rare genetic disorder causing nonspherocytic hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene shares readthrough transcripts with the upstream ST6GALNAC6 gene. [provided by RefSeq, Jan 2022]

AK1 Products(3)

mRNA	Protein	Name
NM_000476.3	NP_000467.1	adenylate kinase isoenzyme 1 isoform 1
NM_001318121.1	NP_001305050.1	adenylate kinase isoenzyme 1 isoform 1
NM_001318122.2	NP_001305051.1	adenylate kinase isoenzyme 1 isoform 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables adenylate kinase activity	EXP EXP: Inferred from Experiment	211388	GOA
enables nucleoside diphosphate kinase activity	IDA IDA: Inferred from direct assay	23416111	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

AK1 Protein Structure

ADK

0
100
194 a.a.

Protein Preferred Names

Protein Names

adenylate kinase isoenzyme 1

ATP-AMP transphosphorylase 1

Recombinant AK1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P74428	Adenylate Kinase 1/AK1 Protein, Human (His)	AAH01116 (M1-K194)	≥95%
HY-P700576	AK1 Protein, Human (His-SUMO)	P00568 (M1-K194)	≥95%

Related Diseases

Diseases

Alias

Adenylate Kinase Deficiency, Hemolytic Anemia Due To

Hemolytic Anemia Due To Adenylate Kinase Deficiency

HAAKD

Hemolytic Anemia

Anemia, Hemolytic	Anemia Hemolytic
Anaemia Due To Other Disorders Of Glutathione Metabolism	Chronic Non Spherocytic Anaemia
G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia	Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency
Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia	Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia
Favism Anaemia	Haemolytic Anaemia Due Tog6pd Deficiency
Favism	Pentose Phosphate Pathway Disorder Anaemia
Anaemia Due To Pentose Phosphate Pathway Defect

Nail-Patella Syndrome

Turner-Kieser Syndrome	Onychoosteodysplasia
Fong Disease	NPS
Hereditary Onycho-Osteodysplasia	Nps1
Hereditary Onychoostedysplasia	Iliac Horn Syndrome
Nail Patella Syndrome	Turner-Kiser Syndrome
Arthro-Onychodysplasia	Nps 1
Osteo-Onychodysplasia	Hereditary Osteo-Onychodysplasia
Osterreicher Syndrome	Pelvic Horn Syndrome
Österreicher-Turner Syndrome	Nps - [Nail-Patella Syndrome]
Hood - [Hereditary Onycho-Osteodysplasia] Syndrome

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

Anemia, Congenital Dyserythropoietic, Type Ib

CDAN1B	Congenital Dyserythropoietic Anemia Type Ib
Cda, Type Ib	Congenital Dyserythropoietic Anemia Type Type 1b
Dyserythropoietic Anemia, Congenital, Type Ib	Anemia, Congenital Dyserythropoietic, 1b
Cda Ib	Anemia, Dyserythropoietic, Congenital
Anemia, Dyserythropoietic, Congenital, Type Ib

Arthrogryposis, Distal, Type 7

Hecht Syndrome	Trismus-Pseudocamptodactyly Syndrome
Distal Arthrogryposis Type 7	Dutch-Kentucky Syndrome
DA7	Hecht-Beals Syndrome
Mouth, Inability To Open Completely, And Short Finger-Flexor Tendons	Mouth, Inability To Completely Open, And Short Finger-Flexor Tendons
Arthrogryposis Distal Type 7	Trismus Pseudocamptodactyly Syndrome
Arthrogryposis, Distal, 7

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-101465	AK-1	Inhibitor	99.97%	Unkown
HY-RS00505	AK1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS04242	EIF2AK1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	AK1	RGD	RGD:2076
Canis familiaris	AK1	VGNC	VGNC:37745
Bos taurus	AK1	VGNC	VGNC:25770
Macaca mulatta	AK1	VGNC	VGNC:104875
Mus musculus	AK1	MGD	MGI:87977
Felis catus	AK1	VGNC	VGNC:59705
Macaca fascicularis	AK1	NCBI	NCBI:101867187
Others	AK1	NCBI

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