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Gene : AK1 Homo sapiens

Name  ? adenylate kinase 1 Cytological Location  9q34.11
Brief Description  adenylate kinase 1
description  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]
  • synonyms:
  • OTTHUMG00000020722,
  • HGNC:361,
  • NM_000476,
  • J04809,
  • uc004bsm.4,
  • HTL-S-58j,
  • AK1
  • identifiers:
  • 203,
  • ENSG00000106992,
  • AK1

Genome feature

Region: gene ? Length: 19063  
Location: 9:127866480-127885542 reverse strand Cyto location: 9q34.11


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

120 SN Ps

5 Cross References

19 Data Sets

14 Homologues

0 Located Features

90 Rna Seq Results