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Q9NX62

- IMPA3_HUMAN

UniProt

Q9NX62 - IMPA3_HUMAN

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Protein

Inositol monophosphatase 3

Gene
IMPAD1, IMPA3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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

Magnesium By similarity.

Enzyme regulationi

Strongly inhibited by lithium By similarity.

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi133 – 1331Magnesium 1 By similarity
Binding sitei133 – 1331Substrate By similarity
Metal bindingi174 – 1741Magnesium 1 By similarity
Metal bindingi174 – 1741Magnesium 2 By similarity
Metal bindingi176 – 1761Magnesium 1; via carbonyl oxygen By similarity
Metal bindingi177 – 1771Magnesium 2 By similarity
Metal bindingi300 – 3001Magnesium 2 By similarity
Binding sitei300 – 3001Substrate By similarity

GO - Molecular functioni

  1. 3'(2'),5'-bisphosphate nucleotidase activity Source: UniProtKB-EC
  2. 3'-nucleotidase activity Source: Ensembl
  3. inositol monophosphate 1-phosphatase activity Source: UniProtKB-EC
  4. inositol monophosphate 3-phosphatase activity Source: UniProtKB-EC
  5. inositol monophosphate 4-phosphatase activity Source: UniProtKB-EC
  6. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. chondrocyte development Source: Ensembl
  2. chondroitin sulfate metabolic process Source: Ensembl
  3. embryonic digit morphogenesis Source: Ensembl
  4. endochondral ossification Source: Ensembl
  5. inositol biosynthetic process Source: UniProtKB-UniPathway
  6. phosphatidylinositol phosphorylation Source: InterPro
  7. post-embryonic development Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Ligandi

Magnesium, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS02567-MONOMER.
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
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:26019. IMPAD1.

Subcellular locationi

Golgi apparatustrans-Golgi network membrane; Single-pass type II membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1212Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei13 – 3321Helical; Reviewed predictionAdd
BLAST
Topological domaini34 – 359326Lumenal Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. Golgi apparatus Source: MGI
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti177 – 1771D → N in CDP-GPAPP. 1 Publication
VAR_065847
Natural varianti183 – 1831T → P in CDP-GPAPP. 1 Publication
VAR_065848

Keywords - Diseasei

Disease mutation

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 359359Inositol monophosphatase 3PRO_0000289041Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi259 – 2591N-linked (GlcNAc...) Inferred

Post-translational modificationi

Contains N-linked glycan resistant to endoglycosydase H.

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ9NX62.
PaxDbiQ9NX62.
PeptideAtlasiQ9NX62.
PRIDEiQ9NX62.

PTM databases

PhosphoSiteiQ9NX62.

Expressioni

Gene expression databases

ArrayExpressiQ9NX62.
BgeeiQ9NX62.
CleanExiHS_IMPAD1.
GenevestigatoriQ9NX62.

Organism-specific databases

HPAiHPA009411.

Interactioni

Protein-protein interaction databases

BioGridi120268. 5 interactions.
MINTiMINT-5003255.
STRINGi9606.ENSP00000262644.

Structurei

3D structure databases

ProteinModelPortaliQ9NX62.
SMRiQ9NX62. Positions 63-352.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni176 – 1794Substrate binding By similarity

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi53 – 564Poly-Ala

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1218.
HOGENOMiHOG000290671.
HOVERGENiHBG062091.
InParanoidiQ9NX62.
KOiK15759.
OMAiNVQINTE.
OrthoDBiEOG7CG71H.
PhylomeDBiQ9NX62.
TreeFamiTF314300.

Family and domain databases

InterProiIPR000760. Inositol_monophosphatase.
IPR020550. Inositol_monophosphatase_CS.
[Graphical view]
PANTHERiPTHR20854. PTHR20854. 1 hit.
PfamiPF00459. Inositol_P. 1 hit.
[Graphical view]
PROSITEiPS00630. IMP_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9NX62-1 [UniParc]FASTAAdd to Basket

« Hide

MAPMGIRLSP LGVAVFCLLG LGVLYHLYSG FLAGRFSLFG LGGEPGGGAA    50
GPAAAADGGT VDLREMLAVS VLAAVRGGDE VRRVRESNVL HEKSKGKTRE 100
GAEDKMTSGD VLSNRKMFYL LKTAFPSVQI NTEEHVDAAD QEVILWDHKI 150
PEDILKEVTT PKEVPAESVT VWIDPLDATQ EYTEDLRKYV TTMVCVAVNG 200
KPMLGVIHKP FSEYTAWAMV DGGSNVKARS SYNEKTPRIV VSRSHSGMVK 250
QVALQTFGNQ TTIIPAGGAG YKVLALLDVP DKSQEKADLY IHVTYIKKWD 300
ICAGNAILKA LGGHMTTLSG EEISYTGSDG IEGGLLASIR MNHQALVRKL 350
PDLEKTGHK 359
Length:359
Mass (Da):38,681
Last modified:October 1, 2000 - v1
Checksum:i4818E989A9684847
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti177 – 1771D → N in CDP-GPAPP. 1 Publication
VAR_065847
Natural varianti183 – 1831T → P in CDP-GPAPP. 1 Publication
VAR_065848

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti51 – 511G → E in AAH67814. 1 Publication
Sequence conflicti123 – 1231T → A in AAH67814. 1 Publication
Sequence conflicti156 – 1561K → E in AAH67814. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.4. human.

Polymorphism databases

DMDMi74734687.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK000428 mRNA. Translation: BAA91158.1 .
AY032885 mRNA. Translation: AAK52336.1 .
BC017797 mRNA. Translation: AAH17797.1 .
BC067814 mRNA. Translation: AAH67814.1 .
CCDSi CCDS6169.1.
RefSeqi NP_060283.3. NM_017813.4.
UniGenei Hs.438689.

3D structure databases

ProteinModelPortali Q9NX62.
SMRi Q9NX62. Positions 63-352.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120268. 5 interactions.
MINTi MINT-5003255.
STRINGi 9606.ENSP00000262644.

PTM databases

PhosphoSitei Q9NX62.

Polymorphism databases

DMDMi 74734687.

Proteomic databases

MaxQBi Q9NX62.
PaxDbi Q9NX62.
PeptideAtlasi Q9NX62.
PRIDEi Q9NX62.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000262644 ; ENSP00000262644 ; ENSG00000104331 .
GeneIDi 54928.
KEGGi hsa:54928.
UCSCi uc003xte.4. human.

Organism-specific databases

CTDi 54928.
GeneCardsi GC08M057870.
H-InvDB HIX0007522.
HGNCi HGNC:26019. IMPAD1.
HPAi HPA009411.
MIMi 614010. gene.
614078. phenotype.
neXtProti NX_Q9NX62.
Orphaneti 1388. Catel-Manzke syndrome.
280586. Chondrodysplasia with joint dislocations, gPAPP type.
PharmGKBi PA142671657.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1218.
HOGENOMi HOG000290671.
HOVERGENi HBG062091.
InParanoidi Q9NX62.
KOi K15759.
OMAi NVQINTE.
OrthoDBi EOG7CG71H.
PhylomeDBi Q9NX62.
TreeFami TF314300.

Enzyme and pathway databases

UniPathwayi UPA00823 ; UER00788 .
BioCyci MetaCyc:HS02567-MONOMER.

Miscellaneous databases

GenomeRNAii 54928.
NextBioi 58023.
PROi Q9NX62.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9NX62.
Bgeei Q9NX62.
CleanExi HS_IMPAD1.
Genevestigatori Q9NX62.

Family and domain databases

InterProi IPR000760. Inositol_monophosphatase.
IPR020550. Inositol_monophosphatase_CS.
[Graphical view ]
PANTHERi PTHR20854. PTHR20854. 1 hit.
Pfami PF00459. Inositol_P. 1 hit.
[Graphical view ]
PROSITEi PS00630. IMP_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION.
  5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS CDP-GPAPP ASN-177 AND PRO-183.

Entry informationi

Entry nameiIMPA3_HUMAN
AccessioniPrimary (citable) accession number: Q9NX62
Secondary accession number(s): Q6NVY7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: October 1, 2000
Last modified: July 9, 2014
This is version 108 of the entry and version 1 of the sequence. [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

External Data

Dasty 3

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