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Gene: PMM1 (phosphomannomutase 1) Homo sapiens
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Symbol: PMM1
Name: phosphomannomutase 1
Description: Exhibits phosphomannomutase activity. Involved in mannose metabolic process. Localizes to cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: brain glucose-1,6-bisphosphatase; PMM 1; PMMH-22; Sec53
Orthologs:
Mus musculus (house mouse) : Pmm1 (phosphomannomutase 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Pmm1 (phosphomannomutase 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Pmm1 (phosphomannomutase 1)
Pan paniscus (bonobo/pygmy chimpanzee) : PMM1 (phosphomannomutase 1)
Canis lupus familiaris (dog) : PMM1 (phosphomannomutase 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Pmm1 (phosphomannomutase 1)
Sus scrofa (pig) : PMM1 (phosphomannomutase 1)
Chlorocebus sabaeus (African green monkey) : PMM1 (phosphomannomutase 1)
Heterocephalus glaber (naked mole-rat) : Pmm1 (phosphomannomutase 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2241,576,900 - 41,589,871 (-)EnsemblGRCh38hg38GRCh38
GRCh382241,576,895 - 41,589,866 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372241,972,890 - 41,985,871 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,302,858 - 40,315,759 (-)NCBINCBI36hg18NCBI36
Build 342240,297,411 - 40,310,313NCBI
Celera2225,779,317 - 25,792,298 (-)NCBI
Cytogenetic Map22q13.2NCBI
HuRef2224,938,706 - 24,951,582 (-)NCBIHuRef
CHM1_12241,933,029 - 41,946,009 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on PMM1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1322064
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.