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    Ak1 adenylate kinase 1 [ Mus musculus (house mouse) ]

    Gene ID: 11636, updated on 27-Dec-2024

    Summary

    Official Symbol
    Ak1provided by MGI
    Official Full Name
    adenylate kinase 1provided by MGI
    Primary source
    MGI:MGI:87977
    See related
    Ensembl:ENSMUSG00000026817 AllianceGenome:MGI:87977
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Ak-1; B430205N08Rik
    Summary
    Enables adenylate kinase activity. Predicted to be involved in nucleobase-containing small molecule metabolic process and positive regulation of D-glucose transmembrane transport. Located in outer dense fiber. Is expressed in several structures, including heart; lung; metanephros; nervous system; and nose. Human ortholog(s) of this gene implicated in congenital nonspherocytic hemolytic anemia and hemolytic anemia. Orthologous to human AK1 (adenylate kinase 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in heart adult (RPKM 107.3), testis adult (RPKM 39.2) and 15 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Ak1 in Genome Data Viewer
    Location:
    2 B; 2 22.09 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (32511770..32525070)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (32621758..32635058)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 Neighboring gene predicted gene, 52551 Neighboring gene predicted gene, 23369 Neighboring gene ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 Neighboring gene STARR-positive B cell enhancer ABC_E10096 Neighboring gene STARR-seq mESC enhancer starr_04202 Neighboring gene STARR-seq mESC enhancer starr_04203 Neighboring gene STARR-seq mESC enhancer starr_04204 Neighboring gene endoglin Neighboring gene microRNA 1954 Neighboring gene predicted gene, 26236

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (2)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables (deoxy)adenylate kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables adenylate kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables adenylate kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables adenylate kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables nucleoside diphosphate kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables nucleoside diphosphate kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    contributes_to phosphotransferase activity, phosphate group as acceptor ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in ADP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ADP biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in AMP metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in AMP metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in ATP metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inosine biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in nucleoside monophosphate phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nucleoside triphosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of D-glucose transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in outer dense fiber IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in sarcomere ISO
    Inferred from Sequence Orthology
    more info
     
    located_in sperm flagellum IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    adenylate kinase isoenzyme 1
    Names
    cytosolic adenylate kinase
    NP_001185719.1
    NP_001185720.1
    NP_001185721.1
    NP_067490.1
    XP_030102669.1
    XP_036013552.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001198790.1NP_001185719.1  adenylate kinase isoenzyme 1 isoform 2

      See identical proteins and their annotated locations for NP_001185719.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs at the 5' UTR and 5' coding region, compared to variant 1. The encoded protein (isoform 2) has a shorter, distinct N-terminus compared to isoform 1. Variants 2, 3, and 4 encode the same protein (isoform 2).
      Source sequence(s)
      AK046613, BC014802
      Consensus CDS
      CCDS57167.1
      UniProtKB/Swiss-Prot
      A2AK80, Q542C5, Q9R0Y4, Q9R0Y5
      Related
      ENSMUSP00000108903.3, ENSMUST00000113278.9
      Conserved Domains (1) summary
      TIGR01360
      Location:6193
      aden_kin_iso1; adenylate kinase, isozyme 1 subfamily
    2. NM_001198791.1NP_001185720.1  adenylate kinase isoenzyme 1 isoform 2

      See identical proteins and their annotated locations for NP_001185720.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs at the 5' UTR and 5' coding region, compared to variant 1. The encoded protein (isoform 2) has a shorter, distinct N-terminus compared to isoform 1. Variants 2, 3, and 4 encode the same protein (isoform 2).
      Source sequence(s)
      BC014802, BY130582
      Consensus CDS
      CCDS57167.1
      UniProtKB/Swiss-Prot
      A2AK80, Q542C5, Q9R0Y4, Q9R0Y5
      Related
      ENSMUSP00000108902.2, ENSMUST00000113277.8
      Conserved Domains (1) summary
      TIGR01360
      Location:6193
      aden_kin_iso1; adenylate kinase, isozyme 1 subfamily
    3. NM_001198792.1NP_001185721.1  adenylate kinase isoenzyme 1 isoform 2

      See identical proteins and their annotated locations for NP_001185721.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs at the 5' UTR and 5' coding region, compared to variant 1. The encoded protein (isoform 2) has a shorter, distinct N-terminus compared to isoform 1. Variants 2, 3, and 4 encode the same protein (isoform 2).
      Source sequence(s)
      BC014802, BY333336
      Consensus CDS
      CCDS57167.1
      UniProtKB/Swiss-Prot
      A2AK80, Q542C5, Q9R0Y4, Q9R0Y5
      Conserved Domains (1) summary
      TIGR01360
      Location:6193
      aden_kin_iso1; adenylate kinase, isozyme 1 subfamily
    4. NM_021515.3NP_067490.1  adenylate kinase isoenzyme 1 isoform 1

      See identical proteins and their annotated locations for NP_067490.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer protein (isoform 1).
      Source sequence(s)
      BC014802, CF950379
      Consensus CDS
      CCDS15924.1
      UniProtKB/Swiss-Prot
      Q9R0Y5
      Related
      ENSMUSP00000068479.5, ENSMUST00000068271.5
      Conserved Domains (1) summary
      TIGR01360
      Location:22209
      aden_kin_iso1; adenylate kinase, isozyme 1 subfamily

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      32511770..32525070
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030246809.2XP_030102669.1  adenylate kinase isoenzyme 1 isoform X1

      UniProtKB/Swiss-Prot
      A2AK80, Q542C5, Q9R0Y4, Q9R0Y5
      Conserved Domains (1) summary
      TIGR01360
      Location:6193
      aden_kin_iso1; adenylate kinase, isozyme 1 subfamily
    2. XM_036157659.1XP_036013552.1  adenylate kinase isoenzyme 1 isoform X1

      UniProtKB/Swiss-Prot
      A2AK80, Q542C5, Q9R0Y4, Q9R0Y5
      Conserved Domains (1) summary
      TIGR01360
      Location:6193
      aden_kin_iso1; adenylate kinase, isozyme 1 subfamily