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Ank progressive ankylosis [ Mus musculus (house mouse) ]

Gene ID: 11732, updated on 5-Jan-2023

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
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Genomic context

See Ank in Genome Data Viewer
Location:
15 B1; 15 10.23 cM
Exon count:
12
Annotation release Status Assembly Chr Location
109 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_000081.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 53888 Neighboring gene discs, large homolog-associated protein 5 pseudogene Neighboring gene predicted gene, 29901 Neighboring gene microRNA 7117 Neighboring gene OTU deubiquitinase with linear linkage specificity Neighboring gene predicted gene, 46506

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Process Evidence Code Pubs
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 phosphate ion 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 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
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
progressive ankylosis protein
Names
fn54 protein

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_020332.4NP_065065.3  progressive ankylosis protein

    See identical proteins and their annotated locations for NP_065065.3

    Status: VALIDATED

    Source sequence(s)
    AK083135, AW049351, BC054379
    Consensus CDS
    CCDS27402.1
    UniProtKB/Swiss-Prot
    O35139, Q9JHZ2
    UniProtKB/TrEMBL
    A0A8C6HPY9, Q3UG85, Q8C438
    Related
    ENSMUSP00000022875.7, ENSMUST00000022875.7
    Conserved Domains (1) summary
    pfam07260
    Location:1345
    ANKH; Progressive ankylosis protein (ANKH)

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000081.7 Reference GRCm39 C57BL/6J

    Range
    27466763..27594995
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)