AK1 - adenylate kinase 1 Gene

Also Known as HTL-S-58j

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子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 参考文献 由来
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

製品番号 製品名 アクセッション番号 純度
HY-P74428 Adenylate Kinase 1/AK1 Protein, Human (His) AAH01116 (M1-K194) ≥ 95%, as determined by reducing SDS-PAGE.

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (10)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-147831 HR-19011 99.64% Unkown
HY-101465 AK-1 Inhibitor 99.84% Unkown
HY-RS00505 AK1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-174999 JAK3-IN-18 Inhibitor / Unkown
HY-RS04242 EIF2AK1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-W587827 Thiamine triphosphoric acid ester / Unkown
HY-RS16851 Ak1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22002 Eif2ak1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS23292 Ak1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28519 Eif2ak1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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