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    Ahnak AHNAK nucleoprotein [ Mus musculus (house mouse) ]

    Gene ID: 66395, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Ahnakprovided by MGI
    Official Full Name
    AHNAK nucleoproteinprovided by MGI
    Primary source
    MGI:MGI:1316648
    See related
    Ensembl:ENSMUSG00000069833 AllianceGenome:MGI:1316648
    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
    DY6
    Summary
    Predicted to enable S100 protein binding activity and identical protein binding activity. Predicted to be involved in regulation of RNA splicing and regulation of voltage-gated calcium channel activity. Predicted to be located in several cellular components, including cell-cell contact zone; extracellular exosome; and sarcolemma. Predicted to be part of plasma membrane protein complex. Predicted to be active in costamere and nucleus. Predicted to colocalize with membrane raft. Is expressed in several structures, including alimentary system; cardiovascular system; egg cylinder; embryo ectoderm; and genitourinary system. Orthologous to human AHNAK (AHNAK nucleoprotein). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in bladder adult (RPKM 56.2), lung adult (RPKM 31.1) and 13 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ahnak in Genome Data Viewer
    Location:
    19 A; 19 6.04 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (8966640..9054299)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (8989284..9076935)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E11018 Neighboring gene STARR-positive B cell enhancer ABC_E3241 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:9041491-9041707 Neighboring gene terminal uridylyl transferase 1, U6 snRNA-specific Neighboring gene eukaryotic translation elongation factor 1 gamma Neighboring gene STARR-positive B cell enhancer ABC_E3242 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:9072131-9072314 Neighboring gene STARR-positive B cell enhancer ABC_E5685 Neighboring gene secretoglobin, family 1A, member 1 Neighboring gene predicted gene, 41805

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data 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

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    Related articles in PubMed

    1. AHNAK deficiency promotes browning and lipolysis in mice via increased responsiveness to β-adrenergic signalling. Shin JH, et al. Sci Rep, 2016 Mar 18. PMID 26987950, Free PMC Article
    2. Protective Function of Ahnak1 in Vascular Healing after Wire Injury. Haase N, et al. J Vasc Res, 2017. PMID 28468000
    3. A scaffold protein, AHNAK1, is required for calcium signaling during T cell activation. Matza D, et al. Immunity, 2008 Jan. PMID 18191595, Free PMC Article
    4. Ahnak protein activates protein kinase C (PKC) through dissociation of the PKC-protein phosphatase 2A complex. Lee IH, et al. J Biol Chem, 2008 Mar 7. PMID 18174170
    5. Specific AHNAK expression in brain endothelial cells with barrier properties. Gentil BJ, et al. J Cell Physiol, 2005 May. PMID 15493012

    See all (75) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Ahnak depletion accelerates liver regeneration by modulating the TGF-beta/Smad signaling pathway.
      Title: Ahnak depletion accelerates liver regeneration by modulating the TGF-β/Smad signaling pathway.
    2. Ahnak deficiency attenuates high-fat diet-induced fatty liver in mice through FGF21 induction.
      Title: Ahnak deficiency attenuates high-fat diet-induced fatty liver in mice through FGF21 induction.
    3. Proprotein convertase subtilisin/kexin Type 9 is required for Ahnak-mediated metastasis of melanoma into lung epithelial cells.
      Title: Proprotein convertase subtilisin/kexin Type 9 is required for Ahnak-mediated metastasis of melanoma into lung epithelial cells.
    4. Ahnak scaffolds p11/Anxa2 complex and L-type voltage-gated calcium channel and modulates depressive behavior.
      Title: Ahnak scaffolds p11/Anxa2 complex and L-type voltage-gated calcium channel and modulates depressive behavior.
    5. TGFbeta-Ahnak signaling axis regulates epithelial-mesenchymal transition during tumor metastasis.
      Title: Ahnak promotes tumor metastasis through transforming growth factor-β-mediated epithelial-mesenchymal transition.
    6. Immortalized Ahnak knock-out SVF cells showed lower level of Bmpr1alpha expression.
      Title: Essential role of Ahnak in adipocyte differentiation leading to the transcriptional regulation of Bmpr1α expression.
    7. Ahnak1 plays a protective role in vascular healing after wire injuries.
      Title: Protective Function of Ahnak1 in Vascular Healing after Wire Injury.
    8. Findings suggest an important role of AHNAK in the regulation of thermogenesis and lipolysis in white adipose tissue via beta-adrenergic signaling.
      Title: AHNAK deficiency promotes browning and lipolysis in mice via increased responsiveness to β-adrenergic signalling.
    9. AHNAK plays a crucial role in body fat accumulation by regulating adipose tissue development via interaction with the SMAD1 protein and can be involved in metabolic homeostasis
      Title: Obesity Resistance and Enhanced Insulin Sensitivity in Ahnak-/- Mice Fed a High Fat Diet Are Related to Impaired Adipogenesis and Increased Energy Expenditure.
    10. inhibition of Ahnak can promote generation of induced pluripotent stem cells (iPSC) via up-regulation of endogenous c-Myc.
      Title: Regulation of c-Myc Expression by Ahnak Promotes Induced Pluripotent Stem Cell Generation.
    Submit: New GeneRIF Correction See all GeneRIFs (25)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Targeted (5)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • 1110004P15Rik, 2310047C17Rik

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables S100 protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of RNA splicing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of voltage-gated calcium channel activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in actin cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cell-cell contact zone ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cell-cell junction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    is_active_in costamere IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in extracellular exosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    colocalizes_with membrane raft ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of plasma membrane protein complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in sarcolemma ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    neuroblast differentiation-associated protein AHNAK
    Names
    desmoyokin

    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_001039959.3 → NP_001035048.1  neuroblast differentiation-associated protein AHNAK isoform 3

      See identical proteins and their annotated locations for NP_001035048.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the shortest transcript and encodes the shortest isoform (3).
      Source sequence(s)
      AC130819
      Consensus CDS
      CCDS50384.1
      UniProtKB/TrEMBL
      A0A494B8Y7, G5E8K8
      Related
      ENSMUSP00000090632.4, ENSMUST00000092955.11
      Conserved Domains (1) summary
      cl00117
      Location:23 → 91
      PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...

    2. NM_001286518.2 → NP_001273447.1  neuroblast differentiation-associated protein AHNAK isoform 4

      See identical proteins and their annotated locations for NP_001273447.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an alternate exon that results in differences in its 3' UTR and 3' coding region, compared to variant 3. The encoded isoform (4) has a longer an distinct C--terminus, compared to isoform 3.
      Source sequence(s)
      AC130819
      UniProtKB/TrEMBL
      A0A494B8Y7, Q8R2L7
      Related
      ENSMUST00000237033.2
      Conserved Domains (1) summary
      cl00117
      Location:23 → 91
      PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...

    3. NM_009643.3 → NP_033773.1  neuroblast differentiation-associated protein AHNAK isoform 1

      See identical proteins and their annotated locations for NP_033773.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) lacks part of the 3' coding region and uses an alternate 3'-terminal exon, compared to variant 3. The encoded isoform (1) has a longer and distinct C-terminus, compared to isoform 3.
      Source sequence(s)
      AC130819
      Consensus CDS
      CCDS29564.1
      UniProtKB/TrEMBL
      E9Q616
      Related
      ENSMUSP00000090633.3, ENSMUST00000092956.4
      Conserved Domains (3) summary
      COG2911
      Location:4902 → 5412
      TamB; Autotransporter translocation and assembly factor TamB [Intracellular trafficking, secretion, and vesicular transport]
      pfam05109
      Location:4591 → 4783
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      cl00117
      Location:23 → 91
      PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...

    RNA

    1. NR_104460.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate internal exon, compared to variant 3. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC130819
      Related
      ENSMUST00000237912.2

    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_000085.7 Reference GRCm39 C57BL/6J

      Range
      8966640..9054299
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006527256.5 → XP_006527319.1  neuroblast differentiation-associated protein AHNAK isoform X3

      Conserved Domains (3) summary
      COG2911
      Location:2569 → 3079
      TamB; Autotransporter translocation and assembly factor TamB [Intracellular trafficking, secretion, and vesicular transport]
      pfam05109
      Location:2258 → 2450
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      cl00117
      Location:23 → 91
      PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...

    2. XM_017318272.2 → XP_017173761.1  neuroblast differentiation-associated protein AHNAK isoform X2

      Conserved Domains (3) summary
      COG2911
      Location:3856 → 4366
      TamB; Autotransporter translocation and assembly factor TamB [Intracellular trafficking, secretion, and vesicular transport]
      pfam05109
      Location:3545 → 3737
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      cl00117
      Location:23 → 91
      PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...

    3. XM_006527253.5 → XP_006527316.1  neuroblast differentiation-associated protein AHNAK isoform X1

      See identical proteins and their annotated locations for XP_006527316.1

      UniProtKB/TrEMBL
      E9Q616
      Conserved Domains (3) summary
      COG2911
      Location:4902 → 5412
      TamB; Autotransporter translocation and assembly factor TamB [Intracellular trafficking, secretion, and vesicular transport]
      pfam05109
      Location:4591 → 4783
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      cl00117
      Location:23 → 91
      PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...

    RNA

    1. XR_877686.4 RNA Sequence

    2. XR_004940166.1 RNA Sequence

    3. XR_877685.4 RNA Sequence

    4. XR_877684.4 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_175108.3: Suppressed sequence

      Description
      NM_175108.3: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein Strain
    Heading Accession and Version

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