AK1 - adenylate kinase 1 Gene

Also Known as HTL-S-58j

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 203

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 References 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

ADK: Adenylate kinase (13 - 168)

  • 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%, as determined by reducing SDS-PAGE.

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

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
Others AK1 NCBI