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

Summary

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 head morphogenesis; neural crest cell differentiation; 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, Dec 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

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_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.

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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

NoName (e-PCR)
- UniSTS:236034

AA930108 (e-PCR)
- UniSTS:159830

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)

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

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

NC_000074.7 Reference GRCm39 C57BL/6J

Range

123610060..123769023 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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
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