SPEG complex locus | Trio family | IUPHAR/BPS Guide to PHARMACOLOGY

SPEG complex locus

Target id: 2203

Nomenclature: SPEG complex locus

Abbreviated Name: SPEG

Family: Trio family

Annotation status:  image of a grey circle Awaiting annotation/under development. Please contact us if you can help with annotation.  » Email us

   GtoImmuPdb view: OFF :     Currently no data for SPEG complex locus in GtoImmuPdb

Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human - 3259 2q35 SPEG SPEG complex locus
Mouse - 3262 1 C4 Speg SPEG complex locus
Rat - 3259 9 q33 Speg SPEG complex locus
Previous and Unofficial Names
aortic preferentially expressed gene 1 | APEG1 | BPEG
Database Links
BRENDA
CATH/Gene3D
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Enzyme
KEGG Gene
RefSeq Nucleotide
RefSeq Protein
UniProtKB
Wikipedia
Selected 3D Structures
Image of receptor 3D structure from RCSB PDB
Description:  X-ray structure of engineered human aortic preferentially expressed protein-1 (APEG-1, SPEG).
PDB Id:  1U2H
Resolution:  0.96Å
Species:  Human
References:  1
Enzyme Reaction
EC Number: 2.7.11.1
Clinically-Relevant Mutations and Pathophysiology
Disease:  Myopathy, centronuclear, 5; CNM5
Synonyms: Autosomal recessive centronuclear myopathy [Orphanet: ORPHA169186]
Centronuclear myopathy [Disease Ontology: DOID:14717]
Disease Ontology: DOID:14717
OMIM: 615959
Orphanet: ORPHA169186

References

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1. Manjasetty BA, Niesen FH, Scheich C, Roske Y, Goetz F, Behlke J, Sievert V, Heinemann U, Büssow K. (2005) X-ray structure of engineered human Aortic Preferentially Expressed Protein-1 (APEG-1). BMC Struct. Biol., 5: 21. [PMID:16354304]

How to cite this page

Trio family: SPEG complex locus. Last modified on 16/04/2015. Accessed on 14/11/2018. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2203.