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PMM2 phosphomannomutase 2 [ Homo sapiens (human) ]

Gene ID: 5373, updated on 6-Jul-2014
Official Symbol
PMM2provided by HGNC
Official Full Name
phosphomannomutase 2provided by HGNC
Primary source
HGNC:9115
See related
Ensembl:ENSG00000140650; HPRD:03472; MIM:601785; Vega:OTTHUMG00000129697
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PMI; CDG1; CDGS; PMI1; CDG1a; PMM 2
Summary
The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008]
See PMM2 in Epigenomics, MapViewer
Location:
16p13
Exon count :
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 16 NC_000016.10 (8797813..8849337)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (8891670..8943194)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene 4-aminobutyrate aminotransferase Neighboring gene RNA, U7 small nuclear 63 pseudogene Neighboring gene transmembrane protein 186 Neighboring gene calcium regulated heat stable protein 1, 24kDa Neighboring gene lipopolysaccharide-induced tumor necrosis factor-alpha factor-like

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
pol gag-pol Positional proteomics analysis identifies the cleavage of human phosphomannomutase 2 (PMM2) at amino acid residues 10-11 by the HIV-1 protease PubMed

Go to the HIV-1, Human Protein Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphomannomutase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
GDP-mannose biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
GDP-mannose biosynthetic process TAS
Traceable Author Statement
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
dolichol-linked oligosaccharide biosynthetic process TAS
Traceable Author Statement
more info
 
mannose biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein N-linked glycosylation via asparagine TAS
Traceable Author Statement
more info
 
protein glycosylation TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
phosphomannomutase 2
Names
phosphomannomutase 2
phosphomannose isomerase 1
NP_000294.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009209.1 

    Range
    5001..56525
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000303.2NP_000294.1  phosphomannomutase 2

    See proteins identical to NP_000294.1

    Status: REVIEWED

    Source sequence(s)
    AB209659, AK291537, BC008310, BF811414, BM973590, DC366756
    Consensus CDS
    CCDS10536.1
    UniProtKB/Swiss-Prot
    O15305
    UniProtKB/TrEMBL
    Q59F02
    Related
    ENSP00000268261, OTTHUMP00000160109, ENST00000268261, OTTHUMT00000251904
    Conserved Domains (3) summary
    cd01427
    Location:892
    Blast Score: 124
    HAD_like; Haloacid dehalogenase-like hydrolases. The haloacid dehalogenase-like (HAD) superfamily includes L-2-haloacid dehalogenase, epoxide hydrolase, phosphoserine phosphatase, phosphomannomutase, phosphoglycolate phosphatase, P-type ATPase, and many others, ...
    TIGR01484
    Location:10221
    Blast Score: 195
    HAD-SF-IIB; HAD-superfamily hydrolase, subfamily IIB
    pfam03332
    Location:29245
    Blast Score: 1067
    PMM; Eukaryotic phosphomannomutase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000016.10 

    Range
    8797813..8849337
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005255374.2XP_005255431.1  

    UniProtKB/TrEMBL
    F5H0W0
    Conserved Domains (1) summary
    cl17107
    Location:3162
    Blast Score: 807
    PMM; Eukaryotic phosphomannomutase
  2. XM_005255373.2XP_005255430.1  

    Conserved Domains (1) summary
    cl17107
    Location:3130
    Blast Score: 681
    PMM; Eukaryotic phosphomannomutase
  3. XM_005255372.2XP_005255429.1  

    Conserved Domains (3) summary
    cd01427
    Location:892
    Blast Score: 128
    HAD_like; Haloacid dehalogenase-like hydrolases. The haloacid dehalogenase-like (HAD) superfamily includes L-2-haloacid dehalogenase, epoxide hydrolase, phosphoserine phosphatase, phosphomannomutase, phosphoglycolate phosphatase, P-type ATPase, and many others, ...
    TIGR01484
    Location:10209
    Blast Score: 182
    HAD-SF-IIB; HAD-superfamily hydrolase, subfamily IIB
    cl17107
    Location:8213
    Blast Score: 966
    PMM; Eukaryotic phosphomannomutase

Alternate HuRef

Genomic

  1. AC_000148.1 

    Range
    8814114..8864329
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 

    Range
    8891570..8943150
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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