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Q9NX62 (IMPA3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 87. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
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Names and origin

Protein namesRecommended name:
Inositol monophosphatase 3

Short name=IMP 3
Short name=IMPase 3
EC=3.1.3.25
EC=3.1.3.7
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 names
Name:IMPAD1
Synonyms:IMPA3
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length359 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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 By similarity.

Catalytic activity

Myo-inositol phosphate + H2O = myo-inositol + phosphate.

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

Cofactor

Magnesium By similarity.

Enzyme regulation

Strongly inhibited by lithium By similarity.

Pathway

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

Subcellular location

Golgi apparatustrans-Golgi network membrane; Single-pass type II membrane protein Ref.4.

Post-translational modification

Contains N-linked glycan resistant to endoglycosydase H.

Involvement in disease

Defects in IMPAD1 are the cause of 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. Ref.6

Sequence similarities

Belongs to the inositol monophosphatase family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 359359Inositol monophosphatase 3
PRO_0000289041

Regions

Topological domain1 – 1212Cytoplasmic Potential
Transmembrane13 – 3321Helical; Potential
Topological domain34 – 359326Lumenal Potential
Region176 – 1794Substrate binding By similarity
Compositional bias53 – 564Poly-Ala

Sites

Metal binding1331Magnesium 1 By similarity
Metal binding1741Magnesium 1 By similarity
Metal binding1741Magnesium 2 By similarity
Metal binding1761Magnesium 1; via carbonyl oxygen By similarity
Metal binding1771Magnesium 2 By similarity
Metal binding3001Magnesium 2 By similarity
Binding site1331Substrate By similarity
Binding site3001Substrate By similarity

Amino acid modifications

Glycosylation2591N-linked (GlcNAc...) Probable

Natural variations

Natural variant1771D → N in CDP-GPAPP. Ref.6
VAR_065847
Natural variant1831T → P in CDP-GPAPP. Ref.6
VAR_065848

Experimental info

Sequence conflict511G → E in AAH67814. Ref.3
Sequence conflict1231T → A in AAH67814. Ref.3
Sequence conflict1561K → E in AAH67814. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Q9NX62 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: 4818E989A9684847

FASTA35938,681
        10         20         30         40         50         60 
MAPMGIRLSP LGVAVFCLLG LGVLYHLYSG FLAGRFSLFG LGGEPGGGAA GPAAAADGGT 

        70         80         90        100        110        120 
VDLREMLAVS VLAAVRGGDE VRRVRESNVL HEKSKGKTRE GAEDKMTSGD VLSNRKMFYL 

       130        140        150        160        170        180 
LKTAFPSVQI NTEEHVDAAD QEVILWDHKI PEDILKEVTT PKEVPAESVT VWIDPLDATQ 

       190        200        210        220        230        240 
EYTEDLRKYV TTMVCVAVNG KPMLGVIHKP FSEYTAWAMV DGGSNVKARS SYNEKTPRIV 

       250        260        270        280        290        300 
VSRSHSGMVK QVALQTFGNQ TTIIPAGGAG YKVLALLDVP DKSQEKADLY IHVTYIKKWD 

       310        320        330        340        350 
ICAGNAILKA LGGHMTTLSG EEISYTGSDG IEGGLLASIR MNHQALVRKL PDLEKTGHK 

« Hide

References

« Hide 'large scale' references
[1]"Molecular cloning and expression of human myo-inositol monophosphatase A3 cDNA (IMPA3)."
Parthasarathy L., Parthasarathy R.
Submitted (APR-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Skin and Testis.
[4]"A role for a lithium-inhibited Golgi nucleotidase in skeletal development and sulfation."
Frederick J.P., Tafari A.T., Wu S.M., Megosh L.C., Chiou S.T., Irving R.P., York J.D.
Proc. Natl. Acad. Sci. U.S.A. 105:11605-11612(2008) [PubMed: 18695242] [Abstract]
Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION.
[5]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[6]"Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP."
Vissers L.E., Lausch E., Unger S., Campos-Xavier A.B., Gilissen C., Rossi A., Del Rosario M., Venselaar H., Knoll U., Nampoothiri S., Nair M., Spranger J., Brunner H.G., Bonafe L., Veltman J.A., Zabel B., Superti-Furga A.
Am. J. Hum. Genet. 88:608-615(2011) [PubMed: 21549340] [Abstract]
Cited for: VARIANTS CDP-GPAPP ASN-177 AND PRO-183.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK000428 mRNA. Translation: BAA91158.1.
AY032885 mRNA. Translation: AAK52336.1.
BC017797 mRNA. Translation: AAH17797.1.
BC067814 mRNA. Translation: AAH67814.1.
IPIIPI00787853.
RefSeqNP_060283.3. NM_017813.3.
UniGeneHs.728870.

3D structure databases

HSSPHSSP built from PDB template 1JP4 based on UniProtKB Q9Z1N4.
ProteinModelPortalQ9NX62.
SMRQ9NX62. Positions 63-359.
ModBaseSearch...

Protein-protein interaction databases

STRINGQ9NX62.

Polymorphism databases

DMDM74734687.

Proteomic databases

PeptideAtlasQ9NX62.
PRIDEQ9NX62.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000262644; ENSP00000262644; ENSG00000104331.
GeneID54928.
KEGGhsa:54928.
UCSCuc003xte.2. human.

Organism-specific databases

CTD54928.
GeneCardsGC08M057870.
HGNCHGNC:26019. IMPAD1.
HPAHPA009411.
MIM614010. gene.
614078. phenotype.
neXtProtNX_Q9NX62.
PharmGKBPA142671657.
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG09579.
GeneTreeENSGT00530000063462.
HOGENOMHBG717298.
HOVERGENHBG062091.
InParanoidQ9NX62.
OMANVQINTE.
OrthoDBEOG434W6B.
PhylomeDBQ9NX62.

Enzyme and pathway databases

BioCycMetaCyc:ENSG00000104331-MONOMER.

Gene expression databases

ArrayExpressQ9NX62.
BgeeQ9NX62.
CleanExHS_IMPAD1.
GenevestigatorQ9NX62.

Family and domain databases

InterProIPR000760. Inositol_monophosphatase.
IPR020550. Inositol_monophosphatase_CS.
[Graphical view]
PANTHERPTHR20854. Inositol_P. 1 hit.
PfamPF00459. Inositol_P. 1 hit.
[Graphical view]
PROSITEPS00629. IMP_1. False negative.
PS00630. IMP_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio58023.
SOURCESearch...

Entry information

Entry nameIMPA3_HUMAN
AccessionPrimary (citable) accession number: Q9NX62
Secondary accession number(s): Q6NVY7
Entry history
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: October 1, 2000
Last modified: January 25, 2012
This is version 87 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

PATHWAY comments

Index of metabolic and biosynthesis pathways

SIMILARITY comments

Index of protein domains and families