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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 4 58
  • IMPase 3 3 4
  • IMP 3 3 4
  • GPAPP 3 4
  • IMPA3 3 4
  • Inositol Monophosphatase 3 3
  • EC 4
  • EC 3.1.3 58
  • 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, Gpapp Type and Desbuquois Dysplasia. Among its related pathways are Inositol phosphate metabolism (KEGG) and Metabolism. 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.

Additional gene information for IMPAD1 Gene

No data available for CIViC summary , 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

Enhancers for IMPAD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08H057108 0.7 Ensembl 11.3 -115.0 -115030 0.2 ELF3 SOX13 MAX CEBPG RAD21 ZNF7 YY1 HLF CEBPB EP300 IMPAD1 RNA5SP266 GC08M057023
GH08H056958 0.6 ENCODE 11.8 +34.8 34773 1.1 ZNF217 SMARCE1 JUN CREB1 ELF1 FOS DPF2 IMPAD1 RNU6-13P GC08P056956
GH08H056992 1 ENCODE 0.7 +0.4 364 2.8 ATF1 ARID4B SIN3A DMAP1 YY1 SP3 SP5 MXD4 REST PPARG IMPAD1 GC08P056956
GH08H056998 0.9 Ensembl ENCODE 0.4 -6.2 -6165 2.2 JUN MAFG JUNB ELF1 BATF FOXA1 ZNF217 FOSL1 GATA3 BCL6B IMPAD1 GC08P057023
GH08H056972 0.8 ENCODE 0.3 +20.8 20835 0.2 HDAC1 LEF1 ATF1 TBL1XR1 ARNT TAL1 TCF12 CC2D1A GATA2 NCOR1 GC08P056956 IMPAD1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IMPAD1 on UCSC Golden Path with GeneCards custom track

Promoters for IMPAD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000224784 571 3000 ARID4B SIN3A DMAP1 YY1 SP3 SP5 MXD4 REST PPARG KAT8

Genomic Locations for IMPAD1 Gene

Genomic Locations for IMPAD1 Gene
35,943 bases
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:
    Recommended name:
    Inositol monophosphatase 3
    Protein Accession:
    Secondary Accessions:
    • Q6NVY7

    Protein attributes for IMPAD1 Gene

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

neXtProt entry for IMPAD1 Gene

Selected DME Specific Peptides for IMPAD1 Gene


Post-translational modifications for IMPAD1 Gene

  • Contains N-linked glycan resistant to endoglycosydase H.
  • Glycosylation at posLast=107107, isoforms=108, and isoforms=259
  • Modification sites at PhosphoSitePlus

Other Protein References for IMPAD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for IMPAD1 Gene

Gene Families for IMPAD1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

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



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

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

Phenotypes From GWAS Catalog 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 TAS --
GO:0008934 inositol monophosphate 1-phosphatase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding 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

Inhibitory RNA Products

Clone 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IMPAD1 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
nucleus 4
endoplasmic reticulum 2
plasma membrane 1
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Cytosol (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IMPAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005794 Golgi apparatus IDA,IEA 18695242
GO:0005796 Golgi lumen TAS --
GO:0005829 cytosol IDA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with IMPAD1: view

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.

Gene Ontology (GO) - Biological Process for IMPAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001958 endochondral ossification IEA --
GO:0002063 chondrocyte development IEA --
GO:0006021 inositol biosynthetic process IEA --
GO:0009791 post-embryonic development IEA --
GO:0016311 dephosphorylation 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

(6) Drugs for IMPAD1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
Adenosine phosphosulfate Experimental Pharma 0
Inositol Investigational Nutra 90

(5) 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
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
Inositol phosphate
  • 1D-Myo-Inositol 1-monophosphate
  • 1D-Myo-Inositol 1-phosphate
  • D-Myo-Inositol-1-Phosphate
  • Inositol 1-monophosphate
Myo-inositol 1-phosphate
  • 1-(Dihydrogen phosphate) DL-myo-Inositol
  • 1-(Dihydrogen phosphate) myo-Inositol
  • DL-myo-Inositol 1-phosphate
  • Myo-Inositol 1-monophosphate
  • Myo-Inositol 1-phosphate
Phosphoadenosine phosphosulfate
  • 3'-Phospho-5'-adenylyl sulfate
  • 3'-Phospho-5'-adenylyl sulphate
  • 3'-Phosphoadenosine 5'-phosphosulfate
  • 3'-Phosphoadenosine 5'-phosphosulphate
  • 3'-Phosphoadenosine-5'-phosphosulfate
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

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

Relevant External Links for IMPAD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for IMPAD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for IMPAD1 Gene

Protein tissue co-expression partners for IMPAD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of IMPAD1 Gene:


SOURCE GeneReport for Unigene cluster for IMPAD1 Gene:


Evidence on tissue expression from TISSUES for IMPAD1 Gene

  • Skin(4.2)
  • Nervous system(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IMPAD1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
  • abdominal wall
  • intestine
  • pelvis
  • testicle
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • hair
  • lymph vessel
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with IMPAD1: view

Primer 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
(Pan troglodytes)
Mammalia IMPAD1 33 34
  • 99.44 (n)
(Canis familiaris)
Mammalia IMPAD1 33 34
  • 92.66 (n)
(Bos Taurus)
Mammalia IMPAD1 33 34
  • 89.69 (n)
(Monodelphis domestica)
Mammalia IMPAD1 34
  • 89 (a)
(Mus musculus)
Mammalia Impad1 33 16 34
  • 88.95 (n)
(Rattus norvegicus)
Mammalia Impad1 33
  • 88.58 (n)
(Ornithorhynchus anatinus)
Mammalia IMPAD1 34
  • 84 (a)
(Gallus gallus)
Aves IMPAD1 33 34
  • 78.46 (n)
(Anolis carolinensis)
Reptilia IMPAD1 34
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia impad1 33
  • 70.14 (n)
Str.10976 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.3318 33
(Danio rerio)
Actinopterygii impad1 33 34
  • 65.07 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001396 33
  • 51.29 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG15743 33 34
  • 50.36 (n)
(Caenorhabditis elegans)
Secernentea CELE_Y6B3B.5 33
  • 48.91 (n)
Y6B3B.5 34
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2702 34
  • 49 (a)
Species where no ortholog for IMPAD1 was found in the sources mined by GeneCards:
  • 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

Gene Tree for IMPAD1 (if available)
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 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
rs387907101 Pathogenic, Chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP) [MIM:614078] 56,980,056(-) CACTT(A/G)ATGCT nc-transcript-variant, reference, missense
rs387907102 Pathogenic, Chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP) [MIM:614078] 56,980,038(-) AATAT(A/C)CAGGT nc-transcript-variant, reference, missense
rs387907103 Pathogenic 56,978,137(-) ATCTT(C/T)GAAAG nc-transcript-variant, reference, stop-gained
rs724160003 Pathogenic 56,993,262(-) ACCAG(-/C)GGCGA nc-transcript-variant, reference, frameshift-variant
rs10003 Likely benign 56,963,029(-) CTTTT(C/T)CTTCT nc-transcript-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv1122195 CNV deletion 24896259
nsv1075553 CNV deletion 25765185
nsv1029443 CNV loss 25217958
nsv1027125 CNV gain 25217958
esv3891400 CNV gain 25118596
esv3617308 CNV loss 21293372
esv3382112 CNV insertion 20981092

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

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for IMPAD1 Gene

MalaCards: The human disease database

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

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


  • 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)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 LE … Superti-Furga A (American journal of human genetics 2011) 2 3 4 60
  2. A role for a lithium-inhibited Golgi nucleotidase in skeletal development and sulfation. (PMID: 18695242) Frederick JP … York JD (Proceedings of the National Academy of Sciences of the United States of America 2008) 3 4 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60

Products for IMPAD1 Gene

Sources for IMPAD1 Gene

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