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    AK6 adenylate kinase 6 [ Homo sapiens (human) ]

    Gene ID: 102157402, updated on 27-Nov-2024

    Summary

    Official Symbol
    AK6provided by HGNC
    Official Full Name
    adenylate kinase 6provided by HGNC
    Primary source
    HGNC:HGNC:49151
    See related
    Ensembl:ENSG00000085231 MIM:619357; AllianceGenome:HGNC:49151
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CIP; CINAP; AD-004; hCINAP; CGI-137
    Summary
    This gene encodes a protein that belongs to the adenylate kinase family of enzymes. The protein has a nuclear localization and contains Walker A (P-loop) and Walker B motifs and a metal-coordinating residue. The protein may be involved in regulation of Cajal body formation. In human, AK6 and TAF9 (GeneID: 6880) are two distinct genes that share 5' exons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
    Expression
    Ubiquitous expression in testis (RPKM 18.6), adrenal (RPKM 17.2) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See AK6 in Genome Data Viewer
    Location:
    5q13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (69350984..69369824, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (70176769..70195609, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (68646811..68665651, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 11525 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 2 Neighboring gene NADH:ubiquinone oxidoreductase subunit B9 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:68665899-68666448 Neighboring gene TATA-box binding protein associated factor 9 Neighboring gene RAD17 checkpoint clamp loader component Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:68710720-68711603 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:68711604-68712486 Neighboring gene MARVEL domain containing 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:68737437-68737634 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:68758407-68758575 Neighboring gene ribosomal protein S27 pseudogene 14

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • MGC3647

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent H2AZ histone chaperone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent H3-H4 histone complex chaperone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA clamp loader activity 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 chromatin extrusion motor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables cohesin loader activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables nucleoside monophosphate kinase activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in chromatin looping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nucleobase-containing small molecule interconversion TAS
    Traceable Author Statement
    more info
     
    involved_in nucleoside monophosphate phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in rRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ribosomal small subunit biogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Cajal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in membrane HDA PubMed 
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    NOT located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    adenylate kinase isoenzyme 6
    Names
    ATP-AMP transphosphorylase 6
    adrenal gland protein AD-004
    coilin interacting nuclear ATPase protein
    coilin interacting protein
    sperm protein HTL-T-97p
    NP_001015891.1
    NP_057367.1

    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_001015891.2NP_001015891.1  adenylate kinase isoenzyme 6 isoform c

      See identical proteins and their annotated locations for NP_001015891.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 2. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform b.
      Source sequence(s)
      AC145132, BC007349, BX117839
      Consensus CDS
      CCDS43324.1
      UniProtKB/Swiss-Prot
      Q9Y3D8
      Related
      ENSP00000370197.3, ENST00000380818.7
      Conserved Domains (1) summary
      COG1936
      Location:7167
      Fap7; Broad-specificity NMP kinase [Nucleotide transport and metabolism]
    2. NM_016283.5NP_057367.1  adenylate kinase isoenzyme 6 isoform b

      See identical proteins and their annotated locations for NP_057367.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) encodes the longer isoform (b).
      Source sequence(s)
      AC145132, AF151895, BC007426
      Consensus CDS
      CCDS4001.1
      UniProtKB/Swiss-Prot
      A8MSZ6, Q5F2S9, Q9Y3D8
      UniProtKB/TrEMBL
      D6RDH4
      Related
      ENSP00000370201.4, ENST00000380822.9
      Conserved Domains (1) summary
      COG1936
      Location:4170
      Fap7; Broad-specificity NMP kinase [Nucleotide transport and metabolism]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      69350984..69369824 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791777.1 Reference GRCh38.p14 PATCHES

      Range
      17807..36649 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315917.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      134177..153020 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      70176769..70195609 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)