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    PMM1 phosphomannomutase 1 [ Homo sapiens (human) ]

    Gene ID: 5372, updated on 9-Dec-2024

    Summary

    Official Symbol
    PMM1provided by HGNC
    Official Full Name
    phosphomannomutase 1provided by HGNC
    Primary source
    HGNC:HGNC:9114
    See related
    Ensembl:ENSG00000100417 MIM:601786; AllianceGenome:HGNC:9114
    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
    PMM 1; Sec53; PMMH-22
    Summary
    Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis. GDP-mannose is used for synthesis of dolichol-phosphate-mannose, which is essential for N-linked glycosylation and thus the secretion of several glycoproteins as well as for the synthesis of glycosyl-phosphatidyl-inositol (GPI) anchored proteins. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in kidney (RPKM 25.6), ovary (RPKM 25.1) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PMM1 in Genome Data Viewer
    Location:
    22q13.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (41576900..41589840, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (42055771..42068712, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (41972904..41985844, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373044 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:41951599-41952098 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:41952629-41952876 Neighboring gene Sharpr-MPRA regulatory region 3167 Neighboring gene cold shock domain containing C2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41984969-41985648 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13794 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19122 Neighboring gene desumoylating isopeptidase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19124 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42016465-42017066 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42026409-42027062 Neighboring gene X-ray repair cross complementing 6

    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 Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of phosphomannomutase 1 (PMM1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphomannomutase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables phosphomannomutase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phosphomannomutase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in GDP-mannose biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in GDP-mannose biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in cellular response to leukemia inhibitory factor IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mannose metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mannose metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein N-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    phosphomannomutase 1
    Names
    brain glucose-1,6-bisphosphatase
    NP_002667.2
    XP_005261695.1
    XP_011528531.1
    XP_011528532.1
    XP_011528533.1
    XP_011528534.1
    XP_047297367.1
    XP_054181677.1
    XP_054181678.1
    XP_054181679.1
    XP_054181680.1
    XP_054181681.1
    XP_054181682.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_002676.3NP_002667.2  phosphomannomutase 1

      See identical proteins and their annotated locations for NP_002667.2

      Status: REVIEWED

      Source sequence(s)
      BC010855, BC016818
      Consensus CDS
      CCDS14020.1
      UniProtKB/Swiss-Prot
      A8K003, Q92586, Q92871
      Related
      ENSP00000216259.7, ENST00000216259.8
      Conserved Domains (1) summary
      cd02585
      Location:15253
      HAD_PMM; phosphomannomutase, similar to human PMM1 and PMM2, Saccharomyces Sec53p, and Arabidopsis thaliana PMM

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      41576900..41589840 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530231.4XP_011528533.1  phosphomannomutase 1 isoform X3

      Conserved Domains (1) summary
      cl21460
      Location:56186
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    2. XM_047441411.1XP_047297367.1  phosphomannomutase 1 isoform X5

    3. XM_005261638.5XP_005261695.1  phosphomannomutase 1 isoform X4

      See identical proteins and their annotated locations for XP_005261695.1

      Conserved Domains (1) summary
      cl21460
      Location:29159
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    4. XM_011530230.3XP_011528532.1  phosphomannomutase 1 isoform X2

      Conserved Domains (2) summary
      TIGR01484
      Location:32243
      HAD-SF-IIB; HAD-superfamily hydrolase, subfamily IIB
      pfam03332
      Location:41261
      PMM; Eukaryotic phosphomannomutase
    5. XM_011530229.3XP_011528531.1  phosphomannomutase 1 isoform X1

      Conserved Domains (1) summary
      cl21460
      Location:169299
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    6. XM_011530232.2XP_011528534.1  phosphomannomutase 1 isoform X4

      See identical proteins and their annotated locations for XP_011528534.1

      Conserved Domains (1) summary
      cl21460
      Location:29159
      HAD_like; Haloacid Dehalogenase-like Hydrolases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      42055771..42068712 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325704.1XP_054181679.1  phosphomannomutase 1 isoform X3

    2. XM_054325707.1XP_054181682.1  phosphomannomutase 1 isoform X5

    3. XM_054325705.1XP_054181680.1  phosphomannomutase 1 isoform X4

    4. XM_054325703.1XP_054181678.1  phosphomannomutase 1 isoform X2

    5. XM_054325702.1XP_054181677.1  phosphomannomutase 1 isoform X1

    6. XM_054325706.1XP_054181681.1  phosphomannomutase 1 isoform X4