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Aliases for AK1 Gene

Aliases for AK1 Gene

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

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 Hemolytic Anemia Due To Adenylate Kinase Deficiency and Hemolytic Anemia. Among its related pathways are Metabolism and Purine metabolism. GO annotations related to this gene include kinase activity and adenylate kinase activity. An important paralog of this gene is AK5.

UniProtKB/Swiss-Prot 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.

Additional gene information for AK1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AK1 Gene

Genomics for AK1 Gene

Regulatory Elements for AK1 Gene

Enhancers for AK1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H127826 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.3 +49.5 49536 3 HDGF ATF1 ARID4B YY1 TCF12 ZNF121 SLC30A9 ATF7 REST ZNF592 FPGS CDK9 ENG FAM129B AK1 ST6GALNAC6 CIZ1 ST6GALNAC4 PIP5KL1 ODF2
GH09H127761 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.5 +110.9 110910 11 HDGF PKNOX1 ATF1 ARNT ARID4B SIN3A ZBTB7B YY1 TCF12 ZNF121 FPGS ENG SH2D3C LOC102723566 AK1 ST6GALNAC6 ST6GALNAC4 PIP5KL1 FAM129B SWI5
GH09H127873 1.2 ENCODE dbSUPER 14.6 +1.8 1782 5 PKNOX1 ARID4B GLIS2 ZNF143 ATF7 SP3 ZNF592 GLIS1 MXD3 MYNN CIZ1 AK1 GOLGA2 ZNF79 SLC25A25-AS1 MIR4672
GH09H127824 1.4 Ensembl ENCODE dbSUPER 12.3 +52.3 52317 1 HDAC1 ELF3 PKNOX1 ATF1 RB1 ZFP64 ARID4B DMAP1 RAD21 RARA ENG FPGS AK1 ST6GALNAC6 ST6GALNAC4 PIP5KL1 LOC102723566 ENSG00000222421
GH09H127935 1.3 ENCODE dbSUPER 11.5 -59.6 -59600 4 HDGF PKNOX1 ATF1 ARNT ARID4B SIN3A DMAP1 ETS1 TCF12 GATA2 PIP5KL1 ST6GALNAC6 AK1 FAM102A ENSG00000230848 DPM2 ENSG00000227218
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AK1 on UCSC Golden Path with GeneCards custom track

Promoters for AK1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000241766 143 801 ELF3 TBP PKNOX1 RB1 ARID4B ZNF76 ZNF366 ZNF143 RCOR1 ATF7

Genomic Location for AK1 Gene

Chromosome:
9
Start:
127,866,480 bp from pter
End:
127,877,743 bp from pter
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

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

Suggested Antigen Peptide Sequences for AK1 Gene

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

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
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + AMP = 2 ADP.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + nucleoside diphosphate = ADP + nucleoside triphosphate.
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.

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:0004017 adenylate kinase activity IEA,EXP 211388
GO:0004550 nucleoside diphosphate kinase activity IEA,IDA 23416111
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase 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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for AK1
  • Applied Biological Materials Clones for AK1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
extracellular 5
cytosol 5
cytoskeleton 2
mitochondrion 2
nucleus 2
plasma membrane 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 --
GO:0005829 cytosol TAS,IDA --
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

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:0006165 nucleoside diphosphate phosphorylation IDA,IEA 23416111
GO:0006172 ADP biosynthetic process IEA --
GO:0007050 cell cycle arrest IEA --
GO:0009142 nucleoside triphosphate biosynthetic process IEA,IDA 23416111
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Bis(Adenosine)-5'-Pentaphosphate Experimental Pharma Target 0
ATP Nutra Agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
dADP
  • 2'-Deoxyadenosine-5'-diphosphate
  • dADP
  • Deoxyadenosine diphosphate
2793-06-8
Deoxyadenosine monophosphate
  • 2'-dAMP
  • 2'-Deoxy-5'-adenylate
  • 2'-Deoxy-5'-adenylic acid
  • 2'-Deoxy-Adenosine 5'-phosphorate
  • 2'-Deoxy-Adenosine 5'-phosphoric acid
653-63-4
genes like me logo Genes that share compounds with AK1: view

Transcripts for AK1 Gene

Unigene Clusters for AK1 Gene

Adenylate kinase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for AK1
  • Applied Biological Materials Clones for AK1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
AK1

Expression for AK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for AK1 Gene



Protein tissue co-expression partners for AK1 Gene

NURSA nuclear receptor signaling pathways regulating expression of AK1 Gene:

AK1

SOURCE GeneReport for Unigene cluster for AK1 Gene:

Hs.175473

Evidence on tissue expression from TISSUES for AK1 Gene

  • Muscle(4.8)
  • Liver(4.4)
  • Eye(4.3)
  • Intestine(4.2)
  • Nervous system(3.5)
  • Heart(3.1)
  • Lung(2.8)
  • Blood(2.3)
  • Kidney(2.1)

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

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

Primer Products

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 33 34
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia AK1 33 34
  • 92.88 (n)
cow
(Bos Taurus)
Mammalia AK1 33 34
  • 91.41 (n)
rat
(Rattus norvegicus)
Mammalia Ak1 33
  • 85.91 (n)
mouse
(Mus musculus)
Mammalia Ak1 33 16 34
  • 85.59 (n)
oppossum
(Monodelphis domestica)
Mammalia AK1 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AK1 34
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves AK1 33 34
  • 78.71 (n)
lizard
(Anolis carolinensis)
Reptilia AK1 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ak1 33
  • 72.85 (n)
zebrafish
(Danio rerio)
Actinopterygii ak1 33 34
  • 70.62 (n)
Dr.14283 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.96 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009317 33
  • 57.51 (n)
fruit fly
(Drosophila melanogaster)
Insecta Adk1 35 33 34
  • 56.23 (n)
worm
(Caenorhabditis elegans)
Secernentea F38B2.4 35 33 34
  • 57.88 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes URA6 34
  • 40 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G25280 33
  • 48.66 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4395 34
  • 57 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3945 33
Species where no ortholog for AK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for AK1 Gene

Paralogs for AK1 Gene

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

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 from dbSNP and Humsavar for AK1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs104894101 Pathogenic, Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631] 127,868,455(-) CCCAG(C/T)GGCTC reference, missense
rs137853203 Pathogenic, Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631] 127,868,346(-) CTTCT(A/G)TGAGA reference, missense
rs137853204 Pathogenic, Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631] 127,872,779(-) CCACC(A/G)GGGAC reference, missense
rs137853205 Pathogenic, Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631] 127,872,707(-) AGAAG(A/G)GGCAG reference, missense
rs104894102 Pathogenic 127,871,828(-) TTGAG(C/T)GACGG reference, stop-gained

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)

Relevant External Links for AK1 Gene

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

Disorders for AK1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for AK1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hemolytic anemia due to adenylate kinase deficiency
  • adenylate kinase deficiency
hemolytic anemia
  • anemia hemolytic
nail-patella syndrome
  • fong disease
reticular dysgenesis
  • aleukocytosis
hemoglobin h disease, nondeletional
  • hemoglobin h disease
- 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 mutations affecting the gene represented in this entry.

Genatlas disease for AK1 Gene

hemolytic anemia

Relevant External Links for AK1

Genetic Association Database (GAD)
AK1
Human Genome Epidemiology (HuGE) Navigator
AK1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AK1
genes like me logo Genes that share disorders with AK1: view

Publications for AK1 Gene

  1. 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 60
  2. Smoking and human reproduction: the effect of adenylate kinase genetic polymorphism. (PMID: 18850517) Gloria-Bottini F … Bottini E (American journal of perinatology 2009) 3 45 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  4. Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia. (PMID: 12649162) Corrons JL … Beutler E (Blood 2003) 3 4 60
  5. wt p53 dependent expression of a membrane-associated isoform of adenylate kinase. (PMID: 10557075) Collavin L … Schneider C (Oncogene 1999) 3 22 60

Products for AK1 Gene

  • Addgene plasmids for AK1

Sources for AK1 Gene

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