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PMM1 phosphomannomutase 1 [ Homo sapiens (human) ]

Gene ID: 5372, updated on 6-Jan-2019

Summary

Official Symbol
PMM1provided by HGNC
Official Full Name
phosphomannomutase 1provided by HGNC
Primary source
HGNC:HGNC:9114
See related
Ensembl:ENSG00000100417 MIM:601786
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

Genomic context

See PMM1 in Genome Data Viewer
Location:
22q13.2
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (41576886..41589867, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (41972890..41985871, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373044 Neighboring gene cold shock domain containing C2 Neighboring gene desumoylating isopeptidase 1 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 FunctionsWhat'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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
phosphomannomutase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphomannomutase activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphomannomutase activity TAS
Traceable Author Statement
more info
 
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
 
cellular response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
 
mannose metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mannose metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
protein N-linked glycosylation IBA
Inferred from Biological aspect of Ancestor
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 TAS
Traceable Author Statement
more info
 
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_024308019.1

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.

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
    Q92871
    UniProtKB/TrEMBL
    A0A024R1U5
    Related
    ENSP00000216259.7, ENST00000216259.7
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

    Range
    41576886..41589867 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530229.2XP_011528531.1  phosphomannomutase 1 isoform X1

    Conserved Domains (1) summary
    cl21460
    Location:169299
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  2. XM_011530231.3XP_011528533.1  phosphomannomutase 1 isoform X3

    Conserved Domains (1) summary
    cl21460
    Location:56186
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  3. XM_011530232.1XP_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
  4. XM_024452251.1XP_024308019.1  phosphomannomutase 1 isoform X5

    Conserved Domains (1) summary
    cl21460
    Location:1141
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  5. XM_005261638.4XP_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
  6. XM_011530230.2XP_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
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