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    Anks6 ankyrin repeat and sterile alpha motif domain containing 6 [ Mus musculus (house mouse) ]

    Gene ID: 75691, updated on 18-Sep-2024

    Summary

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    Official Symbol
    Anks6provided by MGI
    Official Full Name
    ankyrin repeat and sterile alpha motif domain containing 6provided by MGI
    Primary source
    MGI:MGI:1922941
    See related
    Ensembl:ENSMUSG00000066191 AllianceGenome:MGI:1922941
    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
    Gm635; Samd6; Ankrd14; SamCystin; b2b1801.1Clo; 2210417J20Rik
    Summary
    Predicted to enable identical protein binding activity. Acts upstream of or within animal organ development; determination of left/right symmetry; and in utero embryonic development. Located in ciliary inversin compartment. Used to study visceral heterotaxy. Human ortholog(s) of this gene implicated in nephronophthisis 16. Orthologous to human ANKS6 (ankyrin repeat and sterile alpha motif domain containing 6). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in ovary adult (RPKM 4.2), CNS E18 (RPKM 3.6) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Anks6 in Genome Data Viewer
    Location:
    4 B1; 4 25.88 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (47015365..47057339, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (47015365..47057327, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene gamma-aminobutyric acid type B receptor subunit 2 Neighboring gene predicted gene, 32135 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:47002653-47002836 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:47023500-47023609 Neighboring gene STARR-seq mESC enhancer starr_10138 Neighboring gene STARR-positive B cell enhancer mm9_chr4:47033511-47033812 Neighboring gene predicted gene 568 Neighboring gene uncharacterized LOC118568655 Neighboring gene STARR-seq mESC enhancer starr_10140 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 12 Neighboring gene predicted gene, 52731

    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. Mitigation of portal fibrosis and cholestatic liver disease in ANKS6-deficient livers by macrophage depletion. Airik M, et al. FASEB J, 2022 Feb. PMID 35032404, Free PMC Article
    2. Metabolic perturbations caused by depletion of nephronophthisis factor Anks6 in mIMCD3 cells. Schlimpert M, et al. Metabolomics, 2019 Apr 30. PMID 31041607
    3. The SAM domain of ANKS6 has different interacting partners and mutations can induce different cystic phenotypes. Bakey Z, et al. Kidney Int, 2015 Aug. PMID 26039630
    4. High-resolution genetic localization of a modifying locus affecting disease severity in the juvenile cystic kidneys (jck) mouse model of polycystic kidney disease. Beier DR. Mamm Genome, 2016 Jun. PMID 27114383, Free PMC Article
    5. ANKS6 is the critical activator of NEK8 kinase in embryonic situs determination and organ patterning. Czarnecki PG, et al. Nat Commun, 2015 Jan 20. PMID 25599650, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mitigation of portal fibrosis and cholestatic liver disease in ANKS6-deficient livers by macrophage depletion.
      Title: Mitigation of portal fibrosis and cholestatic liver disease in ANKS6-deficient livers by macrophage depletion.
    2. Loss of Anks6 leads to YAP deficiency and liver abnormalities.
      Title: Loss of Anks6 leads to YAP deficiency and liver abnormalities.
    3. The Anks6 affects DNA damage responses and proliferation and plays a crucial role in physiological amino acid and purine/pyrimidine metabolism.
      Title: Metabolic perturbations caused by depletion of nephronophthisis factor Anks6 in mIMCD3 cells.
    4. There is a novel signaling path from cilia in which ANKS6 functions as a signal mediator and link between cilia and the cytoplasm to regulate kidney morphogenesis.
      Title: The Inv compartment of renal cilia is an intraciliary signal-activating center to phosphorylate ANKS6.
    5. We constructed sub-congenic lines to more specifically localize the modifier and have determined it resides in a 3.2 Mb interval containing 28 genes. These include Invs and Anks6, which are both excellent candidates for the modifier as mutations in these genes result in PKD and both genes are known to genetically and physically interact with Nek8.
      Title: High-resolution genetic localization of a modifying locus affecting disease severity in the juvenile cystic kidneys (jck) mouse model of polycystic kidney disease.
    6. Thus, our data demonstrate the importance of ANKS6 for kidney structure integrity and the essential mediating role of its SAM domain in the formation of protein complexes.
      Title: The SAM domain of ANKS6 has different interacting partners and mutations can induce different cystic phenotypes.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1) 
    • Targeted (4)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    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
    acts_upstream_of_or_within determination of left/right symmetry IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within heart development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within kidney development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in ciliary inversin compartment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ankyrin repeat and SAM domain-containing protein 6
    Names
    SAM domain-containing protein 6
    ankyrin repeat domain 14
    sterile alpha motif domain containing 6
    sterile alpha motif domain-containing protein 6

    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_001024136.2 → NP_001019307.1  ankyrin repeat and SAM domain-containing protein 6 isoform 2

      Status: VALIDATED

      Source sequence(s)
      BC060663, BC072562
      Consensus CDS
      CCDS18157.1
      UniProtKB/TrEMBL
      A2ANT9, E9PUD3
      Related
      ENSMUSP00000081665.3, ENSMUST00000084616.3
      Conserved Domains (6) summary
      cd09518
      Location:701 → 765
      SAM_ANKS6; SAM domain of ANKS6 (or SamCystin) subfamily
      smart00454
      Location:704 → 763
      SAM; Sterile alpha motif
      cd00204
      Location:63 → 202
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:106 → 211
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:216 → 268
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:69 → 99
      ANK; ANK repeat [structural motif]

    2. NM_001356426.1 → NP_001343355.1  ankyrin repeat and SAM domain-containing protein 6 isoform 1

      Status: VALIDATED

      Source sequence(s)
      BC060663, BC072562
      Consensus CDS
      CCDS89741.1
      UniProtKB/Swiss-Prot
      Q6GQX6
      UniProtKB/TrEMBL
      A2ANT9
      Related
      ENSMUSP00000155271.2, ENSMUST00000229609.2
      Conserved Domains (5) summary
      cd09518
      Location:769 → 833
      SAM_ANKS6; SAM domain of ANKS6 (or SamCystin) subfamily
      cd00204
      Location:63 → 202
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:69 → 99
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:220 → 347
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:9 → 89
      Ank_4; Ankyrin repeats (many copies)

    RNA

    1. NR_151464.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      BC060663, BC072562
      Related
      ENSMUST00000107747.8

    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_000070.7 Reference GRCm39 C57BL/6J

      Range
      47015365..47057339 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006538334.4 → XP_006538397.1  ankyrin repeat and SAM domain-containing protein 6 isoform X2

      UniProtKB/TrEMBL
      A2ANT9
      Conserved Domains (4) summary
      cd09518
      Location:754 → 818
      SAM_ANKS6; SAM domain of ANKS6 (or SamCystin) subfamily
      PHA03095
      Location:85 → 381
      PHA03095; ankyrin-like protein; Provisional
      sd00045
      Location:69 → 99
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:13 → 132
      Ank_2; Ankyrin repeats (3 copies)

    2. XM_006538333.4 → XP_006538396.1  ankyrin repeat and SAM domain-containing protein 6 isoform X1

      UniProtKB/TrEMBL
      A2ANT9
      Conserved Domains (4) summary
      cd09518
      Location:769 → 833
      SAM_ANKS6; SAM domain of ANKS6 (or SamCystin) subfamily
      PHA03095
      Location:85 → 396
      PHA03095; ankyrin-like protein; Provisional
      sd00045
      Location:69 → 99
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:13 → 132
      Ank_2; Ankyrin repeats (3 copies)

    3. XM_006538337.4 → XP_006538400.1  ankyrin repeat and SAM domain-containing protein 6 isoform X3

      UniProtKB/TrEMBL
      A2ANT9
      Conserved Domains (3) summary
      PHA03095
      Location:85 → 396
      PHA03095; ankyrin-like protein; Provisional
      sd00045
      Location:69 → 99
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:13 → 132
      Ank_2; Ankyrin repeats (3 copies)

    4. XM_006538338.3 → XP_006538401.1  ankyrin repeat and SAM domain-containing protein 6 isoform X4

      Conserved Domains (3) summary
      PHA03095
      Location:85 → 396
      PHA03095; ankyrin-like protein; Provisional
      sd00045
      Location:69 → 99
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:13 → 132
      Ank_2; Ankyrin repeats (3 copies)

    RNA

    1. XR_003955034.2 RNA Sequence

    2. XR_004941999.1 RNA Sequence

    3. XR_004942000.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6GQX6.2 GenPept UniProtKB/Swiss-Prot:Q6GQX6

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