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Ankrd11 ankyrin repeat domain 11 [ Mus musculus (house mouse) ]

Gene ID: 77087, updated on 27-Nov-2024

Summary

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Official Symbol
Ankrd11provided by MGI
Official Full Name
ankyrin repeat domain 11provided by MGI
Primary source
MGI:MGI:1924337
See related
Ensembl:ENSMUSG00000035569 AllianceGenome:MGI:1924337
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
Yod; Gm176; 2410104C19Rik; 3010027A04Rik; 6330578C09Rik; 9530048I21Rik
Summary
Enables protein homodimerization activity. Acts upstream of or within several processes, including face development; head morphogenesis; and skeletal system development. Is active in chromatin. Is expressed in several structures, including cranium; forebrain; jaw; oral epithelium; and sensory organ. Used to study KBG syndrome. Human ortholog(s) of this gene implicated in KBG syndrome. Orthologous to human ANKRD11 (ankyrin repeat domain containing 11). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in thymus adult (RPKM 25.9), ovary adult (RPKM 21.9) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Ankrd11 in Genome Data Viewer
Location:
8 E1; 8 72.0 cM
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (123610060..123769023, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (122883321..123042284, complement)

Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 1 pseudogene Neighboring gene cadherin 15 Neighboring gene predicted gene, 39273 Neighboring gene predicted gene, 39272 Neighboring gene predicted gene, 24445 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:125558182-125558412 Neighboring gene STARR-seq mESC enhancer starr_22964 Neighboring gene RIKEN cDNA 2810013P06 gene Neighboring gene STARR-positive B cell enhancer ABC_E8271 Neighboring gene STARR-positive B cell enhancer ABC_E886 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:125566637-125566746 Neighboring gene predicted gene, 35677

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
  • 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. ANKRD11 associated with intellectual disability and autism regulates dendrite differentiation via the BDNF/TrkB signaling pathway. Ka M, et al. Neurobiol Dis, 2018 Mar. PMID 29274743, Free PMC Article
  2. An ENU-induced mutation in the Ankrd11 gene results in an osteopenia-like phenotype in the mouse mutant Yoda. Barbaric I, et al. Physiol Genomics, 2008 Feb 19. PMID 17986521
  3. Loss of ANCO1 Expression Regulates Chromatin Accessibility and Drives Progression of Early-Stage Triple-Negative Breast Cancer. Yuan M, et al. Int J Mol Sci, 2023 Jul 15. PMID 37511268, Free PMC Article
  4. Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. Walz K, et al. Hum Genet, 2015 Feb. PMID 25413698
  5. Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Sirmaci A, et al. Am J Hum Genet, 2011 Aug 12. PMID 21782149, Free PMC Article

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The chromatin regulator Ankrd11 controls cardiac neural crest cell-mediated outflow tract remodeling and heart function.
    Title: The chromatin regulator Ankrd11 controls cardiac neural crest cell-mediated outflow tract remodeling and heart function.
  2. Ankrd11 knockdown delayed radial migration of cortical neurons. ANKRD11-deficient neurons displayed markedly reduced dendrite growth and branching as well as abnormal dendritic spine morphology. Ankrd11 knockdown suppressed acetylation of epigenetic molecules such as p53 and Histone H3. Furthermore, the mRNA levels of Trkb, Bdnf, and neurite growth-related genes were downregulated in ANKRD11-deficient cortical neurons.
    Title: ANKRD11 associated with intellectual disability and autism regulates dendrite differentiation via the BDNF/TrkB signaling pathway.
  3. ANKRD11 C-terminus plays an important role in regulating the abundance of the protein, and a disturbance of the protein abundance due to the mutations leads to KBG syndrome.
    Title: Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.
  4. A Glu->Lys missense mutation in a highly conserved region causes osteopenia and craniofacial abnormalities. Homozygosity causes embryo death. Ankrd11 is a genetic regular of bone homeostasis.
    Title: An ENU-induced mutation in the Ankrd11 gene results in an osteopenia-like phenotype in the mouse mutant Yoda.
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)  1 citation
  • Endonuclease-mediated (1) 
  • Gene trapped (1) 
  • Targeted (3)  1 citation

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in anatomical structure morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within bone development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within cardiac neural crest cell differentiation involved in heart development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within cognition IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within embryo development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within face development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within face morphogenesis ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within gene expression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within head development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within head morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within heart contraction 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 localization of cell IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within multicellular organism growth IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within neural crest cell migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within neural precursor cell proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within neurogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within odontogenesis of dentin-containing tooth ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within ossification IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within outflow tract morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within proteasomal protein catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within protein acetylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within protein catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within roof of mouth development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within signal transduction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within skeletal system morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within skeletal system morphogenesis ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within social behavior IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within tissue homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within tissue remodeling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in chromatin IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
ankyrin repeat domain-containing protein 11

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_001081379.2 → NP_001074848.2  ankyrin repeat domain-containing protein 11

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the functional protein.
    Source sequence(s)
    AC121819, AC132287
    Consensus CDS
    CCDS40507.2
    UniProtKB/Swiss-Prot
    B2RY01, E9Q4F7, Q6PB57
    UniProtKB/TrEMBL
    E9Q4F8
    Related
    ENSMUSP00000095939.6, ENSMUST00000098334.13
    Conserved Domains (5) summary
    PTZ00121
    Location:666 → 1543
    PTZ00121; MAEBL; Provisional
    PHA03247
    Location:1641 → 2160
    PHA03247; large tegument protein UL36; Provisional
    PRK07003
    Location:2143 → 2367
    PRK07003; DNA polymerase III subunit gamma/tau
    sd00045
    Location:167 → 198
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:172 → 264
    Ank_2; Ankyrin repeats (3 copies)

RNA

  1. NR_037865.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) includes an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC121819, AC132287
    Related
    ENSMUST00000172906.8

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_000074.7 Reference GRCm39 C57BL/6J

    Range
    123610060..123769023 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036154377.1 → XP_036010270.1  ankyrin repeat domain-containing protein 11 isoform X1

    UniProtKB/TrEMBL
    B7ZWM7
    Conserved Domains (5) summary
    PTZ00121
    Location:632 → 1509
    PTZ00121; MAEBL; Provisional
    PHA03247
    Location:1607 → 2126
    PHA03247; large tegument protein UL36; Provisional
    PRK07003
    Location:2109 → 2333
    PRK07003; DNA polymerase III subunit gamma/tau
    sd00045
    Location:133 → 164
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:138 → 230
    Ank_2; Ankyrin repeats (3 copies)

  2. XM_030243852.1 → XP_030099712.1  ankyrin repeat domain-containing protein 11 isoform X3

    UniProtKB/TrEMBL
    B7ZWM7
    Conserved Domains (3) summary
    PTZ00121
    Location:383 → 1260
    PTZ00121; MAEBL; Provisional
    PHA03247
    Location:1358 → 1877
    PHA03247; large tegument protein UL36; Provisional
    PRK07003
    Location:1860 → 2084
    PRK07003; DNA polymerase III subunit gamma/tau

  3. XM_030243851.1 → XP_030099711.1  ankyrin repeat domain-containing protein 11 isoform X2

    UniProtKB/TrEMBL
    B7ZWM7
    Conserved Domains (3) summary
    PTZ00121
    Location:388 → 1265
    PTZ00121; MAEBL; Provisional
    PHA03247
    Location:1363 → 1882
    PHA03247; large tegument protein UL36; Provisional
    PRK07003
    Location:1865 → 2089
    PRK07003; DNA polymerase III subunit gamma/tau
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
E9Q4F7.1 GenPept UniProtKB/Swiss-Prot:E9Q4F7

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