Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol PMM1 contributors: mct/npt - updated : 26-02-2009
HGNC name phosphomannomutase 1
HGNC id 9114
Location 22q13.2      Physical location : 41.972.889 - 41.985.871
Synonym name brain glucose-1,6-bisphosphatase
Synonym symbol(s) Sec53, PMMH22
EC.number 5.4.2.8
DNA
TYPE functioning gene
STRUCTURE 12.90 kb     8 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
RPS9P2 22q13.2 ribosomal protein S9 pseudogene 2 LOC391334 22 similar to mutant beta-actin (beta-actin) EP300 22q13.2 E1A binding protein p300 LOC391335 22 similar to KIAA0563 protein L3MBTL2 22q13.31-q13.33 l(3)mbt-like 2 (Drosophila) RANGAP1 22q13.1 Ran GTPase activating protein 1 RoXaN 22q13.2 ubiquitous tetratricopeptide containing protein RoXaN TEF 22q13.1 thyrotrophic embryonic factor TOB2 22q13.2 transducer of ERBB2, 2 PHF5A 22q13.3 PHD finger protein 5A ACO2 22q13.1 aconitase 2, mitochondrial RPC8 22q13.2 RNA polymerase III subunit RPC8 PIPPIN 22q13.2-q13.31 RNA-binding protein pippin PMM1 22q13.2 phosphomannomutase 1 D15Wsu75e 22q13.2 DNA segment, Chr 15, Wayne State University 75, expressed G22P1 22q13.1 thyroid autoantigen 70kDa (Ku antigen) NHP2L1 22q13.2-q13.1 NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) FLJ23584 22q13.2 hypothetical protein FLJ23584 HMG17L2 22q13.2 high-mobility group (nonhistone chromosomal) protein 17-like 2 MGC40042 22q13.2 hypothetical protein MGC40042 FLJ22349 22q13.2 hypothetical protein FLJ22349 SREBF2 22q13.2 sterol regulatory element binding transcription factor 2 TNFRSF13C 22q13.1-q13.31 tumor necrosis factor receptor superfamily, member 13C C22orf18 22q13.2-q13.31 chromosome 22 open reading frame 18 SEPT3 22q13.2 septin 3 MGC26816 22q13.31 hypothetical protein MGC26816 NAGA 22q13.2 N-acetylgalactosaminidase, alpha- LOC150368 22q13.31 hypothetical protein LOC150368 LOC91689 22q13.31 hypothetical gene supported by AL449243 NDUFA6 22q13.2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa LOC246785 22q13.2 PTD004 pseudogene
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 1295 29.62 262 - Matthijs (1997)
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies homolog to yeast SEC53
intraspecies homolog to PMM2 (66 p100)
Homologene
FAMILY
  • haloacid dehalogenase family of phosphatases / phosphomutases
  • eukaryotic PMM family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • catalyzing the second step in the conversion of fructose-6P to GDP-mannose
  • involved in the glycosylation of glycoconjugates
  • involved in the formation of mannose 1-phosphate needed for glycoprotein biosynthesis (Veiga-da-Cunha 2008)
  • enzyme responsible for Glc-1,6-P2 degradation in ischemic brain (Veiga-da-Cunha 2008)
  • hydrolyse different hexose bisphosphates (glucose 1,6-bisphosphate, mannose 1,6-bisphosphate, fructose 1,6-bisphosphate) (Pirard 1999)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS