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AK6 adenylate kinase 6 [ Homo sapiens (human) ]

Gene ID: 102157402, updated on 14-Nov-2024

Summary

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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
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Human adenylate kinase 6 regulates WNK1 (with no lysine kinase-1) phosphorylation states and affects ion homeostasis in NT2 cells.
    Title: Human adenylate kinase 6 regulates WNK1 (with no lysine kinase-1) phosphorylation states and affects ion homeostasis in NT2 cells.
  2. Unique structural features of the adenylate kinase hCINAP/AK6 and its multifaceted functions in carcinogenesis and tumor progression.
    Title: Unique structural features of the adenylate kinase hCINAP/AK6 and its multifaceted functions in carcinogenesis and tumor progression.
  3. hCINAP is potentially a direct target gene of HIF-1 and is required for hypoxia-induced EMT and apoptosis in cervical cancer cells.
    Title: hCINAP is potentially a direct target gene of HIF-1 and is required for hypoxia-induced EMT and apoptosis in cervical cancer cells.
  4. The mRNA and protein expressions of AK1, AK6 and AK7 are significantly down-regulated in the sperm of asthenospermia patients, which may be closely related with reduced sperm motility.
    Title: [Expressions of the adenylate kinase family in asthenospermia].
  5. These results provide mechanistic insight into the function of hCINAP during the DNA-damage response and its role in acute myelocytic leukemia resistance to therapy.
    Title: hCINAP regulates the DNA-damage response and mediates the resistance of acute myelocytic leukemia cells to therapy.
  6. hCINAP determines self-renewal of colorectal cancer stem cells by facilitating LDHA phosphorylation.
    Title: Adenylate kinase hCINAP determines self-renewal of colorectal cancer stem cells by facilitating LDHA phosphorylation.
  7. purification and X ray crystal structure
    Title: Protein preparation, crystallization and preliminary X-ray analysis of human adrenal gland protein AD-004.
  8. hCINAP is a novel coilin-interacting protein encoded by a transcript from the transcription factor TAFIID32 locus
    Title: Characterization of hCINAP, a novel coilin-interacting protein encoded by a transcript from the transcription factor TAFIID32 locus.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

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

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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)

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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_001015891.2 → NP_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:7 → 167
    Fap7; Broad-specificity NMP kinase [Nucleotide transport and metabolism]

  2. NM_016283.5 → NP_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:4 → 170
    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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y3D8.1 GenPept UniProtKB/Swiss-Prot:Q9Y3D8

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