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Protein

Inositol monophosphatase 3

Gene

IMPAD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.By similarity

Catalytic activityi

Myo-inositol phosphate + H2O = myo-inositol + phosphate.
Adenosine 3',5'-bisphosphate + H2O = adenosine 5'-phosphate + phosphate.

Cofactori

Mg2+By similarity

Enzyme regulationi

Strongly inhibited by lithium.By similarity

Pathwayi: myo-inositol biosynthesis

This protein is involved in step 2 of the subpathway that synthesizes myo-inositol from D-glucose 6-phosphate.
Proteins known to be involved in the 2 steps of the subpathway in this organism are:
  1. Inositol-3-phosphate synthase 1 (ISYNA1)
  2. Inositol-1-monophosphatase (IMPA1), Inositol-1-monophosphatase (IMPA1), Inositol-1-monophosphatase (suhB), Inositol-1-monophosphatase, Inositol monophosphatase 1 (IMPA1), Inositol-1-monophosphatase (IMPA1), Inositol monophosphatase 2 (IMPA2), Inositol monophosphatase 3 (IMPAD1), Inositol-1-monophosphatase (IMPA1)
This subpathway is part of the pathway myo-inositol biosynthesis, which is itself part of Polyol metabolism.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes myo-inositol from D-glucose 6-phosphate, the pathway myo-inositol biosynthesis and in Polyol metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi133Magnesium 1By similarity1
Binding sitei133SubstrateBy similarity1
Metal bindingi174Magnesium 1By similarity1
Metal bindingi174Magnesium 2By similarity1
Metal bindingi176Magnesium 1; via carbonyl oxygenBy similarity1
Metal bindingi177Magnesium 2By similarity1
Metal bindingi300Magnesium 2By similarity1
Binding sitei300SubstrateBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHydrolase
LigandMagnesium, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS02567-MONOMER
BRENDAi3.1.3.7 2681
ReactomeiR-HSA-156584 Cytosolic sulfonation of small molecules
UniPathwayiUPA00823; UER00788

Names & Taxonomyi

Protein namesi
Recommended name:
Inositol monophosphatase 3 (EC:3.1.3.25, EC:3.1.3.7)
Short name:
IMP 3
Short name:
IMPase 3
Alternative name(s):
Golgi 3-prime phosphoadenosine 5-prime phosphate 3-prime phosphatase
Short name:
Golgi-resident PAP phosphatase
Short name:
gPAPP
Inositol monophosphatase domain-containing protein 1
Inositol-1(or 4)-monophosphatase 3
Myo-inositol monophosphatase A3
Gene namesi
Name:IMPAD1
Synonyms:IMPA3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000104331.8
HGNCiHGNC:26019 IMPAD1
MIMi614010 gene
neXtProtiNX_Q9NX62

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 12CytoplasmicSequence analysisAdd BLAST12
Transmembranei13 – 33HelicalSequence analysisAdd BLAST21
Topological domaini34 – 359LumenalSequence analysisAdd BLAST326

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA condition consisting of congenital joint dislocations, chondrodysplasia with short stature, micrognathia and cleft palate, and a distinctive face.
See also OMIM:614078
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065847177D → N in CDP-GPAPP. 1 PublicationCorresponds to variant dbSNP:rs387907101EnsemblClinVar.1
Natural variantiVAR_065848183T → P in CDP-GPAPP. 1 PublicationCorresponds to variant dbSNP:rs387907102EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi54928
MalaCardsiIMPAD1
MIMi614078 phenotype
OpenTargetsiENSG00000104331
Orphaneti1388 Catel-Manzke syndrome
280586 Chondrodysplasia with joint dislocations, gPAPP type
PharmGKBiPA142671657

Polymorphism and mutation databases

BioMutaiIMPAD1
DMDMi74734687

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002890411 – 359Inositol monophosphatase 3Add BLAST359

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionine1 Publication1
Glycosylationi259N-linked (GlcNAc...) asparagine1 Publication1

Post-translational modificationi

Contains N-linked glycan resistant to endoglycosydase H.1 Publication

Keywords - PTMi

Acetylation, Glycoprotein

Proteomic databases

EPDiQ9NX62
MaxQBiQ9NX62
PaxDbiQ9NX62
PeptideAtlasiQ9NX62
PRIDEiQ9NX62
ProteomicsDBi83047

PTM databases

DEPODiQ9NX62
iPTMnetiQ9NX62
PhosphoSitePlusiQ9NX62

Expressioni

Gene expression databases

BgeeiENSG00000104331
CleanExiHS_IMPAD1
ExpressionAtlasiQ9NX62 baseline and differential
GenevisibleiQ9NX62 HS

Organism-specific databases

HPAiHPA009411

Interactioni

Protein-protein interaction databases

BioGridi120268, 34 interactors
STRINGi9606.ENSP00000262644

Structurei

3D structure databases

ProteinModelPortaliQ9NX62
SMRiQ9NX62
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni176 – 179Substrate bindingBy similarity4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi53 – 56Poly-Ala4

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3853 Eukaryota
COG1218 LUCA
GeneTreeiENSGT00530000063462
HOGENOMiHOG000290671
HOVERGENiHBG062091
InParanoidiQ9NX62
KOiK15759
OMAiGQTAWAW
OrthoDBiEOG091G0RCH
PhylomeDBiQ9NX62
TreeFamiTF314300

Family and domain databases

InterProiView protein in InterPro
IPR000760 Inositol_monophosphatase-like
IPR020550 Inositol_monophosphatase_CS
PfamiView protein in Pfam
PF00459 Inositol_P, 1 hit
PROSITEiView protein in PROSITE
PS00630 IMP_2, 1 hit

Sequencei

Sequence statusi: Complete.

Q9NX62-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAPMGIRLSP LGVAVFCLLG LGVLYHLYSG FLAGRFSLFG LGGEPGGGAA
60 70 80 90 100
GPAAAADGGT VDLREMLAVS VLAAVRGGDE VRRVRESNVL HEKSKGKTRE
110 120 130 140 150
GAEDKMTSGD VLSNRKMFYL LKTAFPSVQI NTEEHVDAAD QEVILWDHKI
160 170 180 190 200
PEDILKEVTT PKEVPAESVT VWIDPLDATQ EYTEDLRKYV TTMVCVAVNG
210 220 230 240 250
KPMLGVIHKP FSEYTAWAMV DGGSNVKARS SYNEKTPRIV VSRSHSGMVK
260 270 280 290 300
QVALQTFGNQ TTIIPAGGAG YKVLALLDVP DKSQEKADLY IHVTYIKKWD
310 320 330 340 350
ICAGNAILKA LGGHMTTLSG EEISYTGSDG IEGGLLASIR MNHQALVRKL

PDLEKTGHK
Length:359
Mass (Da):38,681
Last modified:October 1, 2000 - v1
Checksum:i4818E989A9684847
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti51G → E in AAH67814 (PubMed:15489334).Curated1
Sequence conflicti123T → A in AAH67814 (PubMed:15489334).Curated1
Sequence conflicti156K → E in AAH67814 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065847177D → N in CDP-GPAPP. 1 PublicationCorresponds to variant dbSNP:rs387907101EnsemblClinVar.1
Natural variantiVAR_065848183T → P in CDP-GPAPP. 1 PublicationCorresponds to variant dbSNP:rs387907102EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000428 mRNA Translation: BAA91158.1
AY032885 mRNA Translation: AAK52336.1
BC017797 mRNA Translation: AAH17797.1
BC067814 mRNA Translation: AAH67814.1
CCDSiCCDS6169.1
RefSeqiNP_060283.3, NM_017813.4
UniGeneiHs.438689

Genome annotation databases

EnsembliENST00000262644; ENSP00000262644; ENSG00000104331
GeneIDi54928
KEGGihsa:54928
UCSCiuc003xte.5 human

Similar proteinsi

Entry informationi

Entry nameiIMPA3_HUMAN
AccessioniPrimary (citable) accession number: Q9NX62
Secondary accession number(s): Q6NVY7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: October 1, 2000
Last modified: June 20, 2018
This is version 141 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

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