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ANKRD11 (NM_001256183) - ankyrin repeat domain 11

Ankyrin Repeat Domain-Containing Protein 11

PTM Interaction Network Visualisation

Protein summary

This is an alternative isoform of ANKRD11 protein. View all 3 isoforms
ANKRD11: ankyrin repeat domain-containing protein 11
Description:

This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X. [provided by RefSeq, Jan 2012].

Strand
-
Chromosome
16
Protein
2663 residues
All mutations
566
PTM sites
66
CDS
89,334,885 - 89,383,427
Transcription
89,334,028 - 89,556,969
89.86% of sequence is predicted to be disordered

Usage summary

Network

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PTM site

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Kinases group

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Kinase, PTM site or protein

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 29123
UniProt
Ensembl