Ank progressive ankylosis [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ankprovided by MGI
Official Full Name: progressive ankylosisprovided by MGI
Primary source: MGI:MGI:3045421
See related: Ensembl:ENSMUSG00000022265 AllianceGenome:MGI:3045421
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: ank; Ankh; mKIAA1581; D15Ertd221e
Summary: Enables inorganic diphosphate transmembrane transporter activity. Acts upstream of or within regulation of bone mineralization. Located in plasma membrane. Is integral component of plasma membrane. Is expressed in several structures, including bone; connective tissue; olfactory epithelium; telencephalon; and vibrissa follicle. Used to study craniometaphyseal dysplasia. Human ortholog(s) of this gene implicated in autosomal dominant craniometaphyseal dysplasia and chondrocalcinosis. Orthologous to human ANKH (ANKH inorganic pyrophosphate transport regulator). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in heart adult (RPKM 65.4), cerebellum adult (RPKM 43.1) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 B1; 15 10.23 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (27466763..27594995)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (27466677..27594909)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Loss of function mutation in Ank causes aberrant mineralization and acquisition of osteoblast-like-phenotype by the cells of the intervertebral disc.
Title: Loss of function mutation in Ank causes aberrant mineralization and acquisition of osteoblast-like-phenotype by the cells of the intervertebral disc.
The Mineralization Regulator ANKH Mediates Cellular Efflux of ATP, Not Pyrophosphate.
Title: The Mineralization Regulator ANKH Mediates Cellular Efflux of ATP, Not Pyrophosphate.
The membrane protein ANKH is crucial for bone mechanical performance by mediating cellular export of citrate and ATP.
Title: The membrane protein ANKH is crucial for bone mechanical performance by mediating cellular export of citrate and ATP.
our study provides evidence that ANK plays a critical role in the adipogenic/osteogenic fate decision of adult mesenchymal precursor cells
Title: The role of the progressive ankylosis protein (ANK) in adipogenic/osteogenic fate decision of precursor cells.
regulates the transport of inorganic pyrophosphate, and Ank knock-out mice feature a rapidly forming and thick cementum and increased cementum regeneration
Title: Modulation of phosphate/pyrophosphate metabolism to regenerate the periodontium: a novel in vivo approach.
Loss of Ank alters cementoblast gene expression and cervical cementum extracellular matrix composition.
Title: The progressive ankylosis protein regulates cementum apposition and extracellular matrix composition.
the relationship between the type of temporomandibular disorders (TMD) and ANKH polymorphisms
Title: Increased risk of temporomandibular joint closed lock: a case-control study of ANKH polymorphisms.
Phe377del mutation in ANK causes impaired osteoblastogenesis and osteoclastogenesis resulting in hypomineralization and a high bone mass phenotype.
Title: A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD).
ANK is a positive regulator of osteoblastic and osteoclastic differentiation events toward a mature osteoblastic and osteoclastic phenotype.
Title: Progressive ankylosis protein (ANK) in osteoblasts and osteoclasts controls bone formation and bone remodeling.
Analyses on mineralized tissues showed no decrease in mineralization between ank/ank cementum vs. WT controls. Nanoindentation on enamel, dentin or cementum of ank/ank vs. WT molars revealed no significant difference in hardness and elastic modulus.
Title: Structure and mechanical properties of Ank/Ank mutant mouse dental tissues--an animal model for studying periodontal regeneration.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (1) 1 citation
Targeted (3) 1 citation
Endonuclease-mediated (3)

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:548137

MT3505 (e-PCR)
- UniSTS:127535

D15Mit164.2 (e-PCR), detects polymorphism
- UniSTS:127536

D15Mit20 (e-PCR), detects polymorphism
- UniSTS:127567

RH126477 (e-PCR)
- UniSTS:163185

RH126011 (e-PCR)
- UniSTS:162723

C78987 (e-PCR)
- UniSTS:160439

NoName (e-PCR)
- UniSTS:237276

D15Mit94 (e-PCR), detects polymorphism
- UniSTS:127718

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables inorganic diphosphate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables inorganic diphosphate transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables inorganic diphosphate transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables phosphate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphate transmembrane transporter activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in ATP export	ISO Inferred from Sequence Orthology more info
involved_in bone mineralization	IDA Inferred from Direct Assay more info	PubMed
involved_in bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cementum mineralization	IDA Inferred from Direct Assay more info	PubMed
involved_in cementum mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in diphosphate metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in diphosphate metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inhibition of non-skeletal tissue mineralization	IDA Inferred from Direct Assay more info	PubMed
involved_in inhibition of non-skeletal tissue mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inorganic diphosphate transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in muscle cell cellular homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphate ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphate ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to sodium phosphate	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in extracellular region	IMP Inferred from Mutant Phenotype more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: mineralization regulator ANKH

Names: ATP carrier protein ANKH; fn54 protein; progressive ankylosis protein; progressive ankylosis protein homolog

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.