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PMM2 phosphomannomutase 2 [ Homo sapiens (human) ]

Gene ID: 5373, updated on 17-Jun-2019

Summary

Official Symbol
PMM2provided by HGNC
Official Full Name
phosphomannomutase 2provided by HGNC
Primary source
HGNC:HGNC:9115
See related
Ensembl:ENSG00000140650 MIM:601785
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]
Expression
Ubiquitous expression in colon (RPKM 15.9), duodenum (RPKM 13.3) and 25 other tissues See more
Orthologs

Genomic context

See PMM2 in Genome Data Viewer
Location:
16p13.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (8797813..8849326)
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 uncharacterized LOC107984840 Neighboring gene transmembrane protein 186 Neighboring gene uncharacterized LOC100130283 Neighboring gene calcium regulated heat stable protein 1 Neighboring gene LITAF domain containing

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat The gene expression of phosphomannomutase 2 is significantly upregulated in both clade B and clade C Tat treated SK-N-MC neuroblastoma cells PubMed
retropepsin 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 Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphomannomutase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
 
mannose metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein N-linked glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein glycosylation TAS
Traceable Author Statement
more info
PubMed 
protein targeting to ER IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
phosphomannomutase 2
Names
mannose-6-phosphate isomerase
phosphomannose isomerase 1
NP_000294.1
XP_005255431.1

NCBI Reference Sequences (RefSeq)

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 RefSeqGene

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

mRNA and Protein(s)

  1. NM_000303.3NP_000294.1  phosphomannomutase 2

    See identical proteins and their annotated locations for NP_000294.1

    Status: REVIEWED

    Source sequence(s)
    AB209659, AK291537, BC008310, BF811414, DC366756
    Consensus CDS
    CCDS10536.1
    UniProtKB/Swiss-Prot
    O15305
    UniProtKB/TrEMBL
    A0A0S2Z4J6, Q59F02
    Related
    ENSP00000268261.4, ENST00000268261.9
    Conserved Domains (2) summary
    TIGR01484
    Location:10221
    HAD-SF-IIB; HAD-superfamily hydrolase, subfamily IIB
    pfam03332
    Location:29245
    PMM; Eukaryotic phosphomannomutase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    8797813..8849326
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005255374.4XP_005255431.1  phosphomannomutase 2 isoform X1

    Conserved Domains (1) summary
    cl21460
    Location:3162
    HAD_like; Haloacid Dehalogenase-like Hydrolases
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