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Aliases for IMPAD1 Gene

Aliases for IMPAD1 Gene

  • Inositol Monophosphatase Domain Containing 1 2 3 5
  • Golgi 3-Prime Phosphoadenosine 5-Prime Phosphate 3-Prime Phosphatase 3 4
  • Inositol Monophosphatase Domain-Containing Protein 1 3 4
  • Golgi-Resident Nucleotide Phosphatase 2 3
  • 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
  • GPAPP 3 4
  • IMPA3 3 4
  • EC 3.1.3.7 4
  • EC 3.1.3 63
  • IMP-3 3

External Ids for IMPAD1 Gene

Previous GeneCards Identifiers for IMPAD1 Gene

  • GC08M058039
  • GC08M057870
  • GC08M053338

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 desbuquois dysplasia. 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 INPP1.

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

Regulatory Elements for IMPAD1 Gene

Promoters for IMPAD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around IMPAD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for IMPAD1 Gene

Chromosome:
8
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

Genes around IMPAD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IMPAD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IMPAD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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.
  • Glycosylation at Thr 107, Ser 108, and Asn 259
  • Modification sites at PhosphoSitePlus

Other Protein References for IMPAD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for IMPAD1 (Inositol Monophosphatase 3/IMPAD1)

Domains & Families 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 :
  • Belongs to the inositol monophosphatase family.
Family:
  • Belongs to the inositol monophosphatase family.
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: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

Human Phenotype Ontology for IMPAD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IMPAD1 Gene

MGI Knock Outs for IMPAD1:

Animal Model Products

CRISPR Products

No data available for Transcription Factor Targets 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
cytosol 2
endoplasmic reticulum 2
extracellular 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for IMPAD1 Gene

Pathways & Interactions 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:0001958 endochondral ossification IEA --
GO:0006021 inositol biosynthetic process IEA --
GO:0030204 chondroitin sulfate metabolic process IEA --
genes like me logo Genes that share ontologies with IMPAD1: view

No data available for SIGNOR curated interactions for IMPAD1 Gene

Drugs & Compounds for IMPAD1 Gene

(2) Drugs for IMPAD1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Magnesium Nutra 0

(9) Additional Compounds for IMPAD1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Adenosine 3',5'-diphosphate
  • 3'-Phosphoryl-AMP
  • 3,5-ADP
  • 3,5-Diphosphoadenosine
  • 3-Phosphoadenosine 5-phosphate
  • 5-(Dihydrogen phosphate) 3-Adenylate
1053-73-2
Adenosine phosphosulfate
  • Adenosine 5'-phosphosulfate
  • Adenosine 5'-phosphosulphate
  • Adenosine 5'-sulphatophosphate
  • Adenosine Phosphosulfate
  • Adenosine Phosphosulphate
485-84-7
D-Myo-inositol 4-phosphate
  • 1D-Myo-inositol 4-monophosphate
  • 1D-Myo-inositol 4-phosphate
  • D-Myo-inositol-4-phosphate
  • D-Myoinositol 4-phosphate
  • Inositol 4-phosphate
46495-39-0
Inositol phosphate
  • 1D-Myo-Inositol 1-monophosphate
  • 1D-Myo-Inositol 1-phosphate
  • D-Myo-Inositol-1-Phosphate
  • Inositol 1-monophosphate
15421-51-9
Myoinositol
  • cis-1,2,3,5-trans-4,6-Cyclohexanehexol
  • i-Inositol
  • Iso-Inositol
  • Meat sugar
  • Meso-Inositol
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

Protein differential expression in normal tissues from HIPED for IMPAD1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.2), Bone (9.3), and Oral epithelium (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with IMPAD1: view

Protein tissue co-expression partners for IMPAD1 Gene

Primer Products

In Situ Assay Products

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 36
  • 100 (a)
OneToOne
IMPAD1 35
  • 99.44 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia IMPAD1 35
  • 89.69 (n)
  • 96.94 (a)
IMPAD1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IMPAD1 36
  • 96 (a)
OneToOne
IMPAD1 35
  • 92.66 (n)
  • 96.66 (a)
mouse
(Mus musculus)
Mammalia Impad1 36
  • 90 (a)
OneToOne
Impad1 16
Impad1 35
  • 88.95 (n)
  • 91.01 (a)
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 36
  • 63 (a)
OneToOne
impad1 35
  • 65.07 (n)
  • 64.97 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001396 35
  • 51.29 (n)
  • 46.44 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG15743 36
  • 40 (a)
OneToOne
CG15743 35
  • 50.36 (n)
  • 47.5 (a)
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

(1) 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
VAR_065847 Chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP)
VAR_065848 Chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP)
rs967930 -- 56,970,862(-) CAAAC(A/G)TAAAA intron-variant
rs1046627 -- 56,963,229(-) ttttt(C/T)tttta utr-variant-3-prime
rs1046636 -- 56,963,092(-) GAGTT(C/T)AGCAT utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv890932 CNV Gain 21882294

Variation tolerance for IMPAD1 Gene

Residual Variation Intolerance Score: 26.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.16; 23.41% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(3) MalaCards diseases for IMPAD1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and DISEASES

Disorder Aliases PubMed IDs
chondrodysplasia with joint dislocations, grapp type
  • chondrodysplasia with joint dislocations, gpapp type
desbuquois dysplasia
  • desbuquois syndrome
acid-labile subunit, deficiency of
  • acid-labile subunit deficiency
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for IMPAD1

Genetic Association Database (GAD)
IMPAD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IMPAD1
genes like me logo Genes that share disorders with IMPAD1: view

No data available for Genatlas for IMPAD1 Gene

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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. A census of human soluble protein complexes. (PMID: 22939629) Havugimana P.C. … Emili A. (Cell 2012) 3
  4. IMPAD1 mutations in two Catel-Manzke like patients. (PMID: 22887726) Nizon M. … Cormier-Daire V. (Am. J. Med. Genet. A 2012) 3
  5. Defining the membrane proteome of NK cells. (PMID: 19946888) Ghosh D. … Wilkins J.A. (J Mass Spectrom 2010) 3

Products for IMPAD1 Gene

Sources for IMPAD1 Gene

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