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Aliases for IMPAD1 Gene

Aliases for IMPAD1 Gene

  • Inositol Monophosphatase Domain Containing 1 2 3
  • GPAPP 3 4 6
  • IMPA3 3 4 6
  • Golgi 3-Prime Phosphoadenosine 5-Prime Phosphate 3-Prime Phosphatase 3 4
  • Inositol Monophosphatase Domain-Containing Protein 1 3 4
  • Inositol-1(Or 4)-Monophosphatase 3 3 4
  • Myo-Inositol Monophosphatase A3 3 4
  • Golgi-Resident PAP Phosphatase 3 4
  • EC 3.1.3.25 4 63
  • IMPase 3 3 4
  • IMP 3 3 4
  • Inositol Monophosphatase 3 3
  • EC 3.1.3.7 4
  • EC 3.1.3 63
  • IMP-3 3

External Ids for IMPAD1 Gene

Summaries for IMPAD1 Gene

Entrez Gene Summary for IMPAD1 Gene

  • This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP). Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, Dec 2011]

GeneCards Summary for IMPAD1 Gene

IMPAD1 (Inositol Monophosphatase Domain Containing 1) is a Protein Coding gene. Diseases associated with IMPAD1 include chondrodysplasia with joint dislocations, grapp type and catel-manzke syndrome. Among its related pathways are Metabolism and Inositol phosphate metabolism (KEGG). GO annotations related to this gene include inositol monophosphate 1-phosphatase activity and inositol monophosphate 4-phosphatase activity. An important paralog of this gene is BPNT1.

UniProtKB/Swiss-Prot for IMPAD1 Gene

  • May play a role in the formation of skeletal elements derived through endochondral ossification, possibly by clearing adenosine 3,5-bisphosphate produced by Golgi sulfotransferases during glycosaminoglycan sulfation.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IMPAD1 Gene

Genomics for IMPAD1 Gene

Genomic Location for IMPAD1 Gene

Start:
56,957,929 bp from pter
End:
56,993,871 bp from pter
Size:
35,943 bases
Orientation:
Minus strand

Genomic View for IMPAD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IMPAD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IMPAD1 Gene

Regulatory Elements for IMPAD1 Gene

Proteins for IMPAD1 Gene

  • Protein details for IMPAD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NX62-IMPA3_HUMAN
    Recommended name:
    Inositol monophosphatase 3
    Protein Accession:
    Q9NX62
    Secondary Accessions:
    • Q6NVY7

    Protein attributes for IMPAD1 Gene

    Size:
    359 amino acids
    Molecular mass:
    38681 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available

neXtProt entry for IMPAD1 Gene

Proteomics data for IMPAD1 Gene at MOPED

Selected DME Specific Peptides for IMPAD1 Gene

Post-translational modifications for IMPAD1 Gene

  • Contains N-linked glycan resistant to endoglycosydase H.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Thr98, Thr107, Ser108, and Asn259

Other Protein References for IMPAD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains for IMPAD1 Gene

Protein Domains for IMPAD1 Gene

Suggested Antigen Peptide Sequences for IMPAD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NX62

UniProtKB/Swiss-Prot:

IMPA3_HUMAN
Family:
  • Belongs to the inositol monophosphatase family.:
    • Q9NX62
genes like me logo Genes that share domains with IMPAD1: view

No data available for Gene Families for IMPAD1 Gene

Function for IMPAD1 Gene

Molecular function for IMPAD1 Gene

UniProtKB/Swiss-Prot CatalyticActivity: Myo-inositol phosphate + H(2)O = myo-inositol + phosphate
UniProtKB/Swiss-Prot CatalyticActivity: Adenosine 3,5-bisphosphate + H(2)O = adenosine 5-phosphate + phosphate
UniProtKB/Swiss-Prot EnzymeRegulation: Strongly inhibited by lithium.
UniProtKB/Swiss-Prot Function: May play a role in the formation of skeletal elements derived through endochondral ossification, possibly by clearing adenosine 3,5-bisphosphate produced by Golgi sulfotransferases during glycosaminoglycan sulfation.

Enzyme Numbers (IUBMB) for IMPAD1 Gene

Gene Ontology (GO) - Molecular Function for IMPAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008254 3-nucleotidase activity IEA --
GO:0008441 3(2),5-bisphosphate nucleotidase activity IEA --
GO:0008934 inositol monophosphate 1-phosphatase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0052832 inositol monophosphate 3-phosphatase activity IEA --
genes like me logo Genes that share ontologies with IMPAD1: view
genes like me logo Genes that share phenotypes with IMPAD1: view

miRNA for IMPAD1 Gene

miRTarBase miRNAs that target IMPAD1

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for IMPAD1 Gene

Localization for IMPAD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IMPAD1 Gene

Golgi apparatus, trans-Golgi network membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IMPAD1 Gene COMPARTMENTS Subcellular localization image for IMPAD1 gene
Compartment Confidence
golgi apparatus 5
endoplasmic reticulum 2
cytosol 1
extracellular 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for IMPAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IDA 18695242
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with IMPAD1: view

Pathways for IMPAD1 Gene

genes like me logo Genes that share pathways with IMPAD1: view

UniProtKB/Swiss-Prot Q9NX62-IMPA3_HUMAN

  • Pathway: Polyol metabolism; myo-inositol biosynthesis; myo-inositol from D-glucose 6-phosphate: step 2/2

Interacting Proteins for IMPAD1 Gene

Gene Ontology (GO) - Biological Process for IMPAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development --
GO:0001958 endochondral ossification IEA --
GO:0002063 chondrocyte development IEA --
GO:0006021 inositol biosynthetic process IEA --
GO:0009791 post-embryonic development IEA --
genes like me logo Genes that share ontologies with IMPAD1: view

Compounds for IMPAD1 Gene

(2) HMDB Compounds for IMPAD1 Gene

Compound Synonyms Cas Number PubMed IDs
Magnesium
  • Magnesium
7439-95-4
Myoinositol
  • MI
87-89-8
genes like me logo Genes that share compounds with IMPAD1: view

Transcripts for IMPAD1 Gene

mRNA/cDNA for IMPAD1 Gene

Unigene Clusters for IMPAD1 Gene

Inositol monophosphatase domain containing 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for IMPAD1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b
SP1:
SP2: -

Relevant External Links for IMPAD1 Gene

GeneLoc Exon Structure for
IMPAD1
ECgene alternative splicing isoforms for
IMPAD1

Expression for IMPAD1 Gene

mRNA expression in normal human tissues for IMPAD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for IMPAD1 Gene

SOURCE GeneReport for Unigene cluster for IMPAD1 Gene Hs.438689

genes like me logo Genes that share expressions with IMPAD1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for IMPAD1 Gene

Orthologs for IMPAD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for IMPAD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IMPAD1 35
  • 99.44 (n)
  • 100 (a)
IMPAD1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IMPAD1 35
  • 89.69 (n)
  • 96.94 (a)
IMPAD1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IMPAD1 35
  • 92.66 (n)
  • 96.66 (a)
IMPAD1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Impad1 35
  • 88.95 (n)
  • 91.01 (a)
Impad1 16
Impad1 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IMPAD1 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IMPAD1 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100910881 35
  • 88.58 (n)
  • 92.13 (a)
chicken
(Gallus gallus)
Aves IMPAD1 35
  • 78.46 (n)
  • 81.46 (a)
IMPAD1 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IMPAD1 36
  • 66 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.3318 35
tropical clawed frog
(Silurana tropicalis)
Amphibia impad1 35
  • 70.14 (n)
  • 70.14 (a)
Str.10976 35
zebrafish
(Danio rerio)
Actinopterygii impad1 35
  • 65.07 (n)
  • 64.97 (a)
impad1 36
  • 63 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001396 35
  • 51.29 (n)
  • 46.44 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG15743 35
  • 50.36 (n)
  • 47.5 (a)
CG15743 36
  • 40 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_Y6B3B.5 35
  • 48.91 (n)
  • 39.86 (a)
Y6B3B.5 36
  • 33 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2702 36
  • 49 (a)
OneToOne
Species with no ortholog for IMPAD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for IMPAD1 Gene

ENSEMBL:
Gene Tree for IMPAD1 (if available)
TreeFam:
Gene Tree for IMPAD1 (if available)

Paralogs for IMPAD1 Gene

Paralogs for IMPAD1 Gene

Selected SIMAP similar genes for IMPAD1 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for IMPAD1 Gene

genes like me logo Genes that share paralogs with IMPAD1: view

Variants for IMPAD1 Gene

Sequence variations from dbSNP and Humsavar for IMPAD1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs8718 -- 56,958,288(-) ATCTT(A/G)GTGTT utr-variant-3-prime
rs9315 -- 56,958,281(+) ATACA(A/G)AAACA utr-variant-3-prime
rs10003 -- 56,963,029(-) CTTTT(C/T)CTTCT utr-variant-3-prime
rs10763 -- 56,958,491(-) GTTGC(C/T)GTCAC utr-variant-3-prime
rs925150 -- 56,979,959(+) CACCT(A/G)TAGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IMPAD1 Gene

Variant ID Type Subtype PubMed ID
nsv890932 CNV Gain 21882294

Relevant External Links for IMPAD1 Gene

HapMap Linkage Disequilibrium report
IMPAD1
Human Gene Mutation Database (HGMD)
IMPAD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IMPAD1 Gene

Disorders for IMPAD1 Gene

(1) OMIM Diseases for IMPAD1 Gene (614010)

UniProtKB/Swiss-Prot

IMPA3_HUMAN
  • Chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP) [MIM:614078]: A condition consisting of congenital joint dislocations, chondrodysplasia with short stature, micrognathia and cleft palate, and a distinctive face. {ECO:0000269 PubMed:21549340}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for IMPAD1 Gene

Relevant External Links for IMPAD1

Genetic Association Database (GAD)
IMPAD1
genes like me logo Genes that share disorders with IMPAD1: view

Publications for IMPAD1 Gene

  1. Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. (PMID: 21549340) Vissers L.E. … Superti-Furga A. (Am. J. Hum. Genet. 2011) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. A role for a lithium-inhibited Golgi nucleotidase in skeletal development and sulfation. (PMID: 18695242) Frederick J.P. … York J.D. (Proc. Natl. Acad. Sci. U.S.A. 2008) 3 4
  4. Defining the membrane proteome of NK cells. (PMID: 19946888) Ghosh D. … Wilkins J.A. (J Mass Spectrom 2010) 3
  5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PMID: 21139048) Danielsen J.M. … Nielsen M.L. (Mol. Cell Proteomics 2011) 3

Products for IMPAD1 Gene

Sources for IMPAD1 Gene

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