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    AKNA AT-hook transcription factor [ Homo sapiens (human) ]

    Gene ID: 80709, updated on 2-Nov-2024

    Summary

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    Official Symbol
    AKNAprovided by HGNC
    Official Full Name
    AT-hook transcription factorprovided by HGNC
    Primary source
    HGNC:HGNC:24108
    See related
    Ensembl:ENSG00000106948 MIM:605729; AllianceGenome:HGNC:24108
    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
    Summary
    Predicted to enable DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in centrosome; cytosol; and nuclear lumen. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in spleen (RPKM 28.7), lymph node (RPKM 23.1) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AKNA in Genome Data Viewer
    Location:
    9q32
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (114330504..114398472, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (126524242..126590941, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (117096436..117156685, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene collagen type XXVII alpha 1 chain Neighboring gene uncharacterized LOC105376224 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:117068890-117069390 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:117069391-117069891 Neighboring gene Sharpr-MPRA regulatory region 10745 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:117096322-117096822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28855 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:117129412-117130360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28856 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:117131354-117132058 Neighboring gene orosomucoid 1 Neighboring gene orosomucoid 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_106363 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:117143871-117144852 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:117144987-117145802 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28860 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28859 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:117149889-117150624 Neighboring gene uncharacterized LOC124902253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20210 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20211 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:117167737-117168238 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20212 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:117183585-117184085 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:117197109-117197608 Neighboring gene whirlin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28867 Neighboring gene uncharacterized LOC124902254 Neighboring gene small EDRK-rich factor 2 pseudogene Neighboring gene Sharpr-MPRA regulatory region 12257 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:117266242-117267132 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:117267133-117268023 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:117276161-117276362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28868 Neighboring gene uncharacterized LOC105376229 Neighboring gene small nucleolar RNA U13

    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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    Related articles in PubMed

    1. A polymorphism in the AT-hook motif of the transcriptional regulator AKNA is a risk factor for cervical cancer. Perales G, et al. Biomarkers, 2010 Aug. PMID 20507260
    2. Critical Role of the Transcription Factor AKNA in T-Cell Activation: An Integrative Bioinformatics Approach. Ramírez-González A, et al. Int J Mol Sci, 2023 Feb 20. PMID 36835622, Free PMC Article
    3. Cervical cancer-associated promoter polymorphism affects akna expression levels. Martínez-Nava GA, et al. Genes Immun, 2015 Jan-Feb. PMID 25373726
    4. Functional Role of AKNA: A Scoping Review. Ramírez-González A, et al. Biomolecules, 2021 Nov 17. PMID 34827707, Free PMC Article
    5. A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family. Waseem SS, et al. Genes (Basel), 2021 Sep 24. PMID 34680889, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Functional Role of AKNA: A Scoping Review.
      Title: Functional Role of AKNA: A Scoping Review.
    2. Critical Role of the Transcription Factor AKNA in T-Cell Activation: An Integrative Bioinformatics Approach.
      Title: Critical Role of the Transcription Factor AKNA in T-Cell Activation: An Integrative Bioinformatics Approach.
    3. A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.
      Title: A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.
    4. AKNA Is a Potential Prognostic Biomarker in Gastric Cancer and Function as a Tumor Suppressor by Modulating EMT-Related Pathways.
      Title: AKNA Is a Potential Prognostic Biomarker in Gastric Cancer and Function as a Tumor Suppressor by Modulating EMT-Related Pathways.
    5. Evaluation of Common Variants in the AKNA Gene and Susceptibility to Knee Osteoarthritis Among the Han Chinese.
      Title: Evaluation of Common Variants in the AKNA Gene and Susceptibility to Knee Osteoarthritis Among the Han Chinese.
    6. An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.
      Title: An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.
    7. We studied the expression profile of the 60 genes located at that genomic region. POLE3 and AKNA were the only two genes deregulated in resistant tumors harboring the 9q32-q33.1 gain
      Title: Orthoxenografts of Testicular Germ Cell Tumors Demonstrate Genomic Changes Associated with Cisplatin Resistance and Identify PDMP as a Resensitizing Agent.
    8. Epithelial-like neural stem cells divide in the ventricular zone at the ventricles of the embryonic brain, self-renew and generate basal progenitors that delaminate and settle in the subventricular zone in enlarged brain regions; the length of time that cells stay in the subventricular zone is essential for controlling further amplification and fate determination; interphase AKNA has a key role in this process
      Title: The centrosome protein AKNA regulates neurogenesis via microtubule organization.
    9. Authors suggest that regulatory and coding polymorphisms of the inflammatory modulator gene AKNA can influence the development of KOA.
      Title: The association of AKNA gene polymorphisms with knee osteoarthritis suggests the relevance of this immune response regulator in the disease genetic susceptibility.
    10. identified HIF1A Pro582Ser T allele and C/T genotype as well as AKNA -1372C>A polymorphism A/A genotype as genetic factors associated with Primary Sjogren's Syndrome.
      Title: HIF1A (rs11549465) and AKNA (rs10817595) Gene Polymorphisms Are Associated with Primary Sjögren's Syndrome.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ31001, FLJ33184, KIAA1968

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in delamination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in epithelial to mesenchymal transition IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in epithelial to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neuroblast delamination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neuroblast delamination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neuroblast division in subventricular zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neuroblast division in subventricular zone ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in centriole ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane HDA PubMed 
    located_in microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    microtubule organization protein AKNA
    Names
    AKNA transcript F2
    AT-hook transcription factor AKNA
    AT-hook-containing transcription factor

    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_001317950.2 → NP_001304879.1  microtubule organization protein AKNA isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      AK131082, AL356796, AL833220, AY703040
      Consensus CDS
      CCDS6805.1
      UniProtKB/Swiss-Prot
      Q05BK5, Q5T535, Q5T536, Q5T537, Q64FX6, Q64FX7, Q64FX8, Q64FY2, Q6ZMK0, Q6ZNL2, Q6ZTX0, Q7Z591, Q8TET1, Q8TF33, Q96RR9, Q9H7P7
      UniProtKB/TrEMBL
      Q64FY1
      Related
      ENSP00000363201.3, ENST00000374088.8
      Conserved Domains (2) summary
      PHA03247
      Location:1093 → 1383
      PHA03247; large tegument protein UL36; Provisional
      pfam12443
      Location:598 → 696
      AKNA; AT-hook-containing transcription factor

    2. NM_001317952.1 → NP_001304881.1  microtubule organization protein AKNA isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start site, compared to variant 1. It encodes isoform 2, which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AL833220, AY703040
      UniProtKB/TrEMBL
      Q64FY1
      Related
      ENSP00000363188.5, ENST00000374075.9
      Conserved Domains (2) summary
      PHA03247
      Location:974 → 1264
      PHA03247; large tegument protein UL36; Provisional
      pfam12443
      Location:479 → 577
      AKNA; AT-hook-containing transcription factor

    3. NM_030767.5 → NP_110394.3  microtubule organization protein AKNA isoform 1

      See identical proteins and their annotated locations for NP_110394.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      AL833220, AY703040, BC055285
      Consensus CDS
      CCDS6805.1
      UniProtKB/Swiss-Prot
      Q05BK5, Q5T535, Q5T536, Q5T537, Q64FX6, Q64FX7, Q64FX8, Q64FY2, Q6ZMK0, Q6ZNL2, Q6ZTX0, Q7Z591, Q8TET1, Q8TF33, Q96RR9, Q9H7P7
      UniProtKB/TrEMBL
      Q64FY1
      Related
      ENSP00000303769.4, ENST00000307564.8
      Conserved Domains (2) summary
      PHA03247
      Location:1093 → 1383
      PHA03247; large tegument protein UL36; Provisional
      pfam12443
      Location:598 → 696
      AKNA; AT-hook-containing transcription factor

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      114330504..114398472 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006717294.2 → XP_006717357.1  microtubule organization protein AKNA isoform X1

      See identical proteins and their annotated locations for XP_006717357.1

      UniProtKB/Swiss-Prot
      Q05BK5, Q5T535, Q5T536, Q5T537, Q64FX6, Q64FX7, Q64FX8, Q64FY2, Q6ZMK0, Q6ZNL2, Q6ZTX0, Q7Z591, Q8TET1, Q8TF33, Q96RR9, Q9H7P7
      UniProtKB/TrEMBL
      Q64FY1
      Conserved Domains (2) summary
      PHA03247
      Location:1093 → 1383
      PHA03247; large tegument protein UL36; Provisional
      pfam12443
      Location:598 → 696
      AKNA; AT-hook-containing transcription factor

    2. XM_011519065.3 → XP_011517367.2  microtubule organization protein AKNA isoform X3

      UniProtKB/TrEMBL
      Q64FY1
      Conserved Domains (2) summary
      PHA03247
      Location:974 → 1264
      PHA03247; large tegument protein UL36; Provisional
      pfam12443
      Location:479 → 577
      AKNA; AT-hook-containing transcription factor

    3. XM_005252245.2 → XP_005252302.1  microtubule organization protein AKNA isoform X1

      See identical proteins and their annotated locations for XP_005252302.1

      UniProtKB/Swiss-Prot
      Q05BK5, Q5T535, Q5T536, Q5T537, Q64FX6, Q64FX7, Q64FX8, Q64FY2, Q6ZMK0, Q6ZNL2, Q6ZTX0, Q7Z591, Q8TET1, Q8TF33, Q96RR9, Q9H7P7
      UniProtKB/TrEMBL
      Q64FY1
      Conserved Domains (2) summary
      PHA03247
      Location:1093 → 1383
      PHA03247; large tegument protein UL36; Provisional
      pfam12443
      Location:598 → 696
      AKNA; AT-hook-containing transcription factor

    4. XM_005252244.3 → XP_005252301.1  microtubule organization protein AKNA isoform X1

      See identical proteins and their annotated locations for XP_005252301.1

      UniProtKB/Swiss-Prot
      Q05BK5, Q5T535, Q5T536, Q5T537, Q64FX6, Q64FX7, Q64FX8, Q64FY2, Q6ZMK0, Q6ZNL2, Q6ZTX0, Q7Z591, Q8TET1, Q8TF33, Q96RR9, Q9H7P7
      UniProtKB/TrEMBL
      Q64FY1
      Conserved Domains (2) summary
      PHA03247
      Location:1093 → 1383
      PHA03247; large tegument protein UL36; Provisional
      pfam12443
      Location:598 → 696
      AKNA; AT-hook-containing transcription factor

    5. XM_047423922.1 → XP_047279878.1  microtubule organization protein AKNA isoform X1

      UniProtKB/Swiss-Prot
      Q05BK5, Q5T535, Q5T536, Q5T537, Q64FX6, Q64FX7, Q64FX8, Q64FY2, Q6ZMK0, Q6ZNL2, Q6ZTX0, Q7Z591, Q8TET1, Q8TF33, Q96RR9, Q9H7P7

    6. XM_047423921.1 → XP_047279877.1  microtubule organization protein AKNA isoform X1

      UniProtKB/Swiss-Prot
      Q05BK5, Q5T535, Q5T536, Q5T537, Q64FX6, Q64FX7, Q64FX8, Q64FY2, Q6ZMK0, Q6ZNL2, Q6ZTX0, Q7Z591, Q8TET1, Q8TF33, Q96RR9, Q9H7P7

    7. XM_011519063.3 → XP_011517365.1  microtubule organization protein AKNA isoform X3

      See identical proteins and their annotated locations for XP_011517365.1

      UniProtKB/TrEMBL
      Q64FY1
      Conserved Domains (2) summary
      PHA03247
      Location:974 → 1264
      PHA03247; large tegument protein UL36; Provisional
      pfam12443
      Location:479 → 577
      AKNA; AT-hook-containing transcription factor

    8. XM_047423924.1 → XP_047279880.1  microtubule organization protein AKNA isoform X5

    9. XM_005252248.4 → XP_005252305.1  microtubule organization protein AKNA isoform X2

      UniProtKB/TrEMBL
      Q64FY1
      Conserved Domains (2) summary
      PHA03247
      Location:1100 → 1351
      PHA03247; large tegument protein UL36; Provisional
      pfam12443
      Location:598 → 696
      AKNA; AT-hook-containing transcription factor

    10. XM_005252247.6 → XP_005252304.1  microtubule organization protein AKNA isoform X1

      See identical proteins and their annotated locations for XP_005252304.1

      UniProtKB/Swiss-Prot
      Q05BK5, Q5T535, Q5T536, Q5T537, Q64FX6, Q64FX7, Q64FX8, Q64FY2, Q6ZMK0, Q6ZNL2, Q6ZTX0, Q7Z591, Q8TET1, Q8TF33, Q96RR9, Q9H7P7
      UniProtKB/TrEMBL
      Q64FY1
      Conserved Domains (2) summary
      PHA03247
      Location:1093 → 1383
      PHA03247; large tegument protein UL36; Provisional
      pfam12443
      Location:598 → 696
      AKNA; AT-hook-containing transcription factor

    11. XM_047423923.1 → XP_047279879.1  microtubule organization protein AKNA isoform X4

    12. XM_047423925.1 → XP_047279881.1  microtubule organization protein AKNA isoform X6

    13. XM_011519064.3 → XP_011517366.1  microtubule organization protein AKNA isoform X7

      UniProtKB/TrEMBL
      Q64FY1
      Conserved Domains (1) summary
      pfam12443
      Location:598 → 696
      AKNA; AT-hook-containing transcription factor

    14. XM_047423926.1 → XP_047279882.1  microtubule organization protein AKNA isoform X8

    15. XM_011519066.4 → XP_011517368.1  microtubule organization protein AKNA isoform X9

      Related
      ENSP00000309222.3, ENST00000312033.3
      Conserved Domains (1) summary
      pfam12443
      Location:598 → 696
      AKNA; AT-hook-containing transcription factor

    RNA

    1. XR_929844.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      126524242..126590941 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363907.1 → XP_054219882.1  microtubule organization protein AKNA isoform X1

    2. XM_054363910.1 → XP_054219885.1  microtubule organization protein AKNA isoform X3

    3. XM_054363908.1 → XP_054219883.1  microtubule organization protein AKNA isoform X1

    4. XM_054363906.1 → XP_054219881.1  microtubule organization protein AKNA isoform X1

    5. XM_054363914.1 → XP_054219889.1  microtubule organization protein AKNA isoform X3

    6. XM_054363912.1 → XP_054219887.1  microtubule organization protein AKNA isoform X5

    7. XM_054363909.1 → XP_054219884.1  microtubule organization protein AKNA isoform X2

    8. XM_054363905.1 → XP_054219880.1  microtubule organization protein AKNA isoform X1

    9. XM_054363911.1 → XP_054219886.1  microtubule organization protein AKNA isoform X4

    10. XM_054363913.1 → XP_054219888.1  microtubule organization protein AKNA isoform X6

    11. XM_054363915.1 → XP_054219890.1  microtubule organization protein AKNA isoform X7

    12. XM_054363916.1 → XP_054219891.1  microtubule organization protein AKNA isoform X8

    13. XM_054363917.1 → XP_054219892.1  microtubule organization protein AKNA isoform X9

    RNA

    1. XR_008488078.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z591.2 GenPept UniProtKB/Swiss-Prot:Q7Z591

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