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Inositol monophosphatase 3

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
BPNT2
Identifiers
AliasesBPNT2, GPAPP, IMP 3, IMP-3, IMPA3, inositol monophosphatase domain containing 1, IMPAD1, 3'(2'), 5'-bisphosphate nucleotidase 2
External IDsOMIM:614010;MGI:1915720;HomoloGene:9852;GeneCards:BPNT2;OMA:BPNT2 - orthologs
Gene location (Human)
Chromosome 8 (human)
Chr.Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for BPNT2
Genomic location for BPNT2
Band8q12.1Start56,957,931bp[1]
End56,993,867bp[1]
Gene location (Mouse)
Chromosome 4 (mouse)
Chr.Chromosome 4 (mouse)[2]
Chromosome 4 (mouse)
Genomic location for BPNT2
Genomic location for BPNT2
Band4|4 A1Start4,762,484bp[2]
End4,793,355bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • internal globus pallidus

  • right ventricle

  • subthalamic nucleus

  • vena cava

  • pons

  • saphenous vein

  • external globus pallidus

  • middle temporal gyrus

  • lateral nuclear group of thalamus

  • parotid gland
Top expressed in
  • Rostral migratory stream

  • epithelium of stomach

  • lateral septal nucleus

  • ventromedial nucleus

  • epithelium of lens

  • human fetus

  • migratory enteric neural crest cell

  • crypt of lieberkuhn of small intestine

  • lateral hypothalamus

  • retinal pigment epithelium
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

54928

242291

Ensembl

ENSG00000104331

ENSMUSG00000066324

UniProt

Q9NX62

Q80V26

RefSeq (mRNA)

NM_017813

NM_177730

RefSeq (protein)

NP_060283

NP_808398

Location (UCSC)Chr 8: 56.96 – 56.99 MbChr 4: 4.76 – 4.79 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Inositol monophosphatase 3 also known asinositol monophosphatase domain-containing protein 1 (IMPAD1) is anenzyme that in humans is encoded by the IMPAD1gene.[5]

This gene encodes a member of theinositol monophosphatase family. The encoded protein is localized to theGolgi apparatus and catalyzes the hydrolysis ofphosphoadenosine phosphate (PAP) toadenosine monophosphate (AMP).[5]

Clinical significance

[edit]

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.[5]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000104331Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000066324Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^abc"Entrez Gene: Inositol monophosphatase domain containing 1".
3.1.1:Carboxylic
ester hydrolases
3.1.2:Thioesterase
3.1.3:Phosphatase
3.1.4:
Phosphodiesterase
3.1.6:Sulfatase
Nuclease (includes
deoxyribonuclease
andribonuclease)
3.1.11-16:
Exonuclease
Exodeoxyribonuclease
Exoribonuclease
3.1.21-31:
Endonuclease
Endodeoxyribonuclease
Endoribonuclease
either deoxy- or ribo-    
Activity
Regulation
Classification
Kinetics
Types
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