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 nonsphe... See more...

Aliases for AK1 Gene

Aliases for AK1 Gene

  • Adenylate Kinase 1 2 3 5
  • Adenylate Monophosphate Kinase 3 4
  • Adenylate Kinase Isoenzyme 1 3 4
  • ATP-AMP Transphosphorylase 1 3 4
  • ATP:AMP Phosphotransferase 3 4
  • EC 2.7.4.3 4 50
  • Myokinase 3 4
  • Testis Secretory Sperm Binding Protein Li 58j 3
  • Epididymis Secretory Sperm Binding Protein 3
  • EC 2.7.4.6 4
  • HTL-S-58j 3
  • EC 2.7.4 50
  • AK 1 4
  • AK1 5

External Ids for AK1 Gene

Previous GeneCards Identifiers for AK1 Gene

  • GC09M121743
  • GC09M122275
  • GC09M124082
  • GC09M126004
  • GC09M127708
  • GC09M129668
  • GC09M130628
  • GC09M100246

Summaries for AK1 Gene

Entrez Gene Summary for AK1 Gene

  • 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. [provided by RefSeq, Dec 2015]

GeneCards Summary for AK1 Gene

AK1 (Adenylate Kinase 1) is a Protein Coding gene. Diseases associated with AK1 include Adenylate Kinase Deficiency, Hemolytic Anemia Due To and Hemolytic Anemia. Among its related pathways are purine nucleotides de novo biosynthesis and ATP/ITP metabolism. Gene Ontology (GO) annotations related to this gene include kinase activity and adenylate kinase activity. An important paralog of this gene is CMPK1.

UniProtKB/Swiss-Prot Summary for AK1 Gene

  • Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Also displays broad nucleoside diphosphate kinase activity. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AK1 Gene

Genomics for AK1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AK1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AK1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AK1

Top Transcription factor binding sites by QIAGEN in the AK1 gene promoter:
  • AP-1
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • c-Fos
  • c-Jun
  • p53

Genomic Locations for AK1 Gene

Latest Assembly
chr9:127,866,480-127,885,542
(GRCh38/hg38)
Size:
19,063 bases
Orientation:
Minus strand

Previous Assembly
chr9:130,628,759-130,641,900
(GRCh37/hg19 by Entrez Gene)
Size:
13,142 bases
Orientation:
Minus strand

chr9:130,628,759-130,640,022
(GRCh37/hg19 by Ensembl)
Size:
11,264 bases
Orientation:
Minus strand

Genomic View for AK1 Gene

Genes around AK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AK1 Gene

Proteins for AK1 Gene

  • Protein details for AK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00568-KAD1_HUMAN
    Recommended name:
    Adenylate kinase isoenzyme 1
    Protein Accession:
    P00568
    Secondary Accessions:
    • Q9BVK9
    • Q9UQC7

    Protein attributes for AK1 Gene

    Size:
    194 amino acids
    Molecular mass:
    21635 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for AK1 Gene

neXtProt entry for AK1 Gene

Selected DME Specific Peptides for AK1 Gene

P00568:
  • PTLLLYVDAG
  • LIDGYPR
  • KRGIVRKVNAEG
  • TVLDMLRDAM
  • HLSTGDLLR
  • FVVGGPGSGKGTQCEKIV
  • DDNEETI
  • YGYTHLS
  • TQRLLKR

Post-translational modifications for AK1 Gene

  • Ubiquitination at Lys31
  • Modification sites at PhosphoSitePlus

Antibodies for research

Domains & Families for AK1 Gene

Gene Families for AK1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for AK1 Gene

InterPro:
Blocks:
  • Adenylate kinase

Suggested Antigen Peptide Sequences for AK1 Gene

GenScript: Design optimal peptide antigens:
  • Myokinase (KAD1_HUMAN)
  • Adenylate kinase 1 (Q5T9B8_HUMAN)
  • cDNA, FLJ94359, Homo sapiens adenylate kinase 1 (AK1), mRNA (Q6FGX9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P00568

UniProtKB/Swiss-Prot:

KAD1_HUMAN :
  • Consists of three domains, a large central CORE domain and two small peripheral domains, NMPbind and LID, which undergo movements during catalysis. The LID domain closes over the site of phosphoryl transfer upon ATP binding. Assembling and dissambling the active center during each catalytic cycle provides an effective means to prevent ATP hydrolysis.
  • Belongs to the adenylate kinase family. AK1 subfamily.
Domain:
  • Consists of three domains, a large central CORE domain and two small peripheral domains, NMPbind and LID, which undergo movements during catalysis. The LID domain closes over the site of phosphoryl transfer upon ATP binding. Assembling and dissambling the active center during each catalytic cycle provides an effective means to prevent ATP hydrolysis.
Family:
  • Belongs to the adenylate kinase family. AK1 subfamily.
genes like me logo Genes that share domains with AK1: view

Function for AK1 Gene

Molecular function for AK1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Also displays broad nucleoside diphosphate kinase activity. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=AMP + ATP = 2 ADP; Xref=Rhea:RHEA:12973, ChEBI:CHEBI:30616, ChEBI:CHEBI:456215, ChEBI:CHEBI:456216; EC=2.7.4.3; Evidence={ECO:0000255|HAMAP-Rule:MF_03171, ECO:0000269|PubMed:23416111};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 2'-deoxyribonucleoside 5'-diphosphate + ATP = a 2'-deoxyribonucleoside 5'-triphosphate + ADP; Xref=Rhea:RHEA:44640, ChEBI:CHEBI:30616, ChEBI:CHEBI:61560, ChEBI:CHEBI:73316, ChEBI:CHEBI:456216; EC=2.7.4.6; Evidence={ECO:0000255|HAMAP-Rule:MF_03171, ECO:0000269|PubMed:23416111};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a ribonucleoside 5'-diphosphate + ATP = a ribonucleoside 5'-triphosphate + ADP; Xref=Rhea:RHEA:18113, ChEBI:CHEBI:30616, ChEBI:CHEBI:57930, ChEBI:CHEBI:61557, ChEBI:CHEBI:456216; EC=2.7.4.6; Evidence={ECO:0000255|HAMAP-Rule:MF_03171, ECO:0000269|PubMed:23416111};.
GENATLAS Biochemistry:
adenylate kinase 1,cytosolic,expressed in erythrocyte,skeletal muscle,brain, responsible of the phosphorylation of AMP in RBC and production of ADP,adenine nucleotide catabolic pathway and guanine nucleotide pools homeostasis

Enzyme Numbers (IUBMB) for AK1 Gene

Phenotypes From GWAS Catalog for AK1 Gene

Gene Ontology (GO) - Molecular Function for AK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004017 adenylate kinase activity IEA,IBA 21873635
GO:0004550 nucleoside diphosphate kinase activity IEA,IDA 23416111
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with AK1: view
genes like me logo Genes that share phenotypes with AK1: view

Human Phenotype Ontology for AK1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AK1 Gene

MGI Knock Outs for AK1:
  • Ak1 Ak1<tm1Bew>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AK1

No data available for Transcription Factor Targets and HOMER Transcription for AK1 Gene

Localization for AK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AK1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AK1 gene
Compartment Confidence
cytosol 5
extracellular 4
nucleus 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001520 outer dense fiber IEA --
GO:0005737 cytoplasm IEA,IBA 21873635
GO:0005829 cytosol IDA,TAS --
GO:0005886 plasma membrane IEA --
GO:0036126 sperm flagellum IEA --
genes like me logo Genes that share ontologies with AK1: view

Pathways & Interactions for AK1 Gene

genes like me logo Genes that share pathways with AK1: view

Pathways by source for AK1 Gene

2 GeneGo (Thomson Reuters) pathways for AK1 Gene
  • ATP/ITP metabolism
  • G-protein signaling G-Protein alpha-s signaling cascades
2 Qiagen pathways for AK1 Gene
  • AMPK Enzyme Complex Pathway
  • Cholera Infection

Interacting Proteins for AK1 Gene

Gene Ontology (GO) - Biological Process for AK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006139 nucleobase-containing compound metabolic process IEA --
GO:0006163 purine nucleotide metabolic process IBA --
GO:0006165 nucleoside diphosphate phosphorylation IEA,IDA 23416111
GO:0006172 ADP biosynthetic process IEA --
GO:0007050 cell cycle arrest IEA --
genes like me logo Genes that share ontologies with AK1: view

No data available for SIGNOR curated interactions for AK1 Gene

Drugs & Compounds for AK1 Gene

(11) Drugs for AK1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine Approved, Investigational Pharma Enzyme, substrate 664
Tenofovir alafenamide Approved Pharma Enzyme, substrate 0
Adenosine monophosphate Approved, Investigational Nutra 0
Bis(Adenosine)-5'-Pentaphosphate Experimental Pharma Target 0
Tenofovir Experimental, Investigational Pharma Enzyme, substrate HIV reverse transcriptase inhibitor 1087

(10) Additional Compounds for AK1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
dADP
  • 2'-Deoxyadenosine-5'-diphosphate
  • Deoxyadenosine diphosphate
2793-06-8
Deoxyadenosine monophosphate
  • 2'-dAMP
  • 2'-Deoxy-5'-adenosine monophosphate
  • 2'-Deoxy-AMP
  • 2'-Deoxyadenosine 5'-(dihydrogen phosphate)
  • 2'-Deoxyadenosine 5'-phosphate
653-63-4
genes like me logo Genes that share compounds with AK1: view

Transcripts for AK1 Gene

mRNA/cDNA for AK1 Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AK1

Alternative Splicing Database (ASD) splice patterns (SP) for AK1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8
SP1: - -
SP2: - -
SP3: -
SP4: -

Relevant External Links for AK1 Gene

GeneLoc Exon Structure for
AK1

Expression for AK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AK1 Gene

This gene is overexpressed in Muscle - Skeletal (x7.1) and Heart - Left Ventricle (x5.1).

Protein differential expression in normal tissues from HIPED for AK1 Gene

This gene is overexpressed in Tonsil (18.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AK1 Gene



Protein tissue co-expression partners for AK1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AK1

SOURCE GeneReport for Unigene cluster for AK1 Gene:

Hs.175473

Evidence on tissue expression from TISSUES for AK1 Gene

  • Muscle(4.8)
  • Liver(4.5)
  • Intestine(4.4)
  • Eye(4.4)
  • Heart(4.1)
  • Nervous system(3.7)
  • Lung(3.1)
  • Blood(2.5)
  • Pancreas(2.4)
  • Kidney(2.4)
  • Skin(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AK1 Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
Regions:
General:
  • blood
  • red blood cell
genes like me logo Genes that share expression patterns with AK1: view

No data available for mRNA Expression by UniProt/SwissProt for AK1 Gene

Orthologs for AK1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AK1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia AK1 29 30
  • 99.48 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AK1 29 30
  • 92.88 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AK1 29 30
  • 91.41 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ak1 29
  • 85.91 (n)
Mouse
(Mus musculus)
Mammalia Ak1 29 16 30
  • 85.59 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia AK1 30
  • 80 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia AK1 30
  • 53 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AK1 29 30
  • 78.71 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AK1 30
  • 70 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ak1 29
  • 72.85 (n)
Zebrafish
(Danio rerio)
Actinopterygii ak1 29 30
  • 70.62 (n)
OneToOne
Dr.14283 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.96 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009317 29
  • 57.51 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Adk1 29 30 31
  • 56.23 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea F38B2.4 29 30 31
  • 57.88 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes URA6 30
  • 40 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT4G25280 29
  • 48.66 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4395 30
  • 57 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3945 29
Species where no ortholog for AK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for AK1 Gene

ENSEMBL:
Gene Tree for AK1 (if available)
TreeFam:
Gene Tree for AK1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AK1: view image
Alliance of Genome Resources:
Additional Orthologs for AK1

Paralogs for AK1 Gene

Paralogs for AK1 Gene

(4) SIMAP similar genes for AK1 Gene using alignment to 6 proteins:

  • KAD1_HUMAN
  • F8VRY5_HUMAN
  • H0Y4J6_HUMAN
  • H0YID2_HUMAN
  • Q5T9B7_HUMAN
  • Q6FGX9_HUMAN

Pseudogenes.org Pseudogenes for AK1 Gene

genes like me logo Genes that share paralogs with AK1: view

Variants for AK1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for AK1 Gene

KAD1_HUMAN-P00568
This enzyme represents the most common of at least five alleles.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AK1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs104894101 Pathogenic: Adenylate kinase deficiency, hemolytic anemia due to. Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631] 127,868,455(-) G/Ap.Arg128Trp
NM_000476.2(AK1):c.382C>T (p.Arg128Trp)
MISSENSE
rs104894102 Pathogenic: Adenylate kinase deficiency, hemolytic anemia due to 127,871,828(-) G/A
NM_000476.2(AK1):c.319C>T (p.Arg107Ter)
NONSENSE
rs115263629 Benign: Adenylate kinase deficiency, hemolytic anemia due to 127,868,310(-) G/T
NM_000476.2(AK1):c.516+11C>A
INTRON
rs1235797866 Likely Benign: not provided 127,871,916(-) C/T
NM_000476.2(AK1):c.231G>A (p.Arg77=)
SYNONYMOUS
rs137853203 Pathogenic: Adenylate kinase deficiency, hemolytic anemia due to. Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631] 127,868,346(-) T/Cp.Tyr164Cys
NM_000476.2(AK1):c.491A>G (p.Tyr164Cys)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AK1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for AK1 Gene

Variant ID Type Subtype PubMed ID
dgv1377e199 CNV deletion 23128226
dgv4141n106 CNV deletion 24896259
dgv497n21 CNV loss 19592680
esv2739054 CNV deletion 23290073
esv28616 CNV gain+loss 19812545
esv3576708 CNV gain 25503493
esv3621795 CNV gain 21293372
esv3621796 CNV loss 21293372
nsv466575 CNV loss 19166990
nsv615374 CNV loss 21841781
nsv615379 CNV gain 21841781
nsv615380 CNV loss 21841781

Variation tolerance for AK1 Gene

Residual Variation Intolerance Score: 56.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.95; 59.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AK1 Gene

Human Gene Mutation Database (HGMD)
AK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AK1
Leiden Open Variation Database (LOVD)
AK1

SNP Genotyping and Copy Number Assays for research

Disorders for AK1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for AK1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
adenylate kinase deficiency, hemolytic anemia due to
  • hemolytic anemia due to adenylate kinase deficiency
hemolytic anemia
  • anemia hemolytic
nail-patella syndrome
  • nps
reticular dysgenesis
  • reticular dysgenesia
anemia, congenital dyserythropoietic, type ib
  • cdan1b
- elite association - COSMIC cancer census association via MalaCards
Search AK1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KAD1_HUMAN
  • Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]: A disease characterized by hemolytic anemia and undetectable erythrocyte adenylate kinase activity. {ECO:0000269 PubMed:12649162, ECO:0000269 PubMed:2542324, ECO:0000269 PubMed:9432020}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for AK1 Gene

hemolytic anemia

Additional Disease Information for AK1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with AK1: view

Publications for AK1 Gene

  1. Human adenylate kinase deficiency associated with hemolytic anemia. A single base substitution affecting solubility and catalytic activity of the cytosolic adenylate kinase. (PMID: 2542324) Matsuura S … Nakazawa A (The Journal of biological chemistry 1989) 2 3 4 72
  2. A case of complete adenylate kinase deficiency due to a nonsense mutation in AK-1 gene (Arg 107 --> Stop, CGA --> TGA) associated with chronic haemolytic anaemia. (PMID: 10233365) Bianchi P … Zanella A (British journal of haematology 1999) 3 40 72
  3. Severe erythrocyte adenylate kinase deficiency due to homozygous A-->G substitution at codon 164 of human AK1 gene associated with chronic haemolytic anaemia. (PMID: 9432020) Qualtieri A … Brancati C (British journal of haematology 1997) 4 40 72
  4. The human adenylate kinase 9 is a nucleoside mono- and diphosphate kinase. (PMID: 23416111) Amiri M … Solaroli N (The international journal of biochemistry & cell biology 2013) 3 4
  5. Smoking and human reproduction: the effect of adenylate kinase genetic polymorphism. (PMID: 18850517) Gloria-Bottini F … Bottini E (American journal of perinatology 2009) 3 40

Products for AK1 Gene

  • Addgene plasmids for AK1

Sources for AK1 Gene