Human Gene PGAM1 (ENST00000334828.6)
  Description: Homo sapiens phosphoglycerate mutase 1 (PGAM1), transcript variant 1, mRNA. (from RefSeq NM_002629)
RefSeq Summary (NM_002629): The protein encoded by this gene is a mutase that catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015].
Gencode Transcript: ENST00000334828.6
Gencode Gene: ENSG00000171314.9
Transcript (Including UTRs)
   Position: hg38 chr10:97,426,191-97,433,444 Size: 7,254 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg38 chr10:97,426,308-97,432,524 Size: 6,217 Coding Exon Count: 4 

Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:97,426,191-97,433,444)mRNA (may differ from genome)Protein (254 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIOMIMPubMedUniProtKB

-  MalaCards Disease Associations
  MalaCards Gene Search: PGAM1
Diseases sorted by gene-association score: phosphoglycerate mutase deficiency (13), corticobasal degeneration (9), chromosome 10q26 deletion syndrome (7), myasthenic syndrome, congenital, 5 (5), renal clear cell carcinoma (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 178.10 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 1985.60 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -49.70117-0.425 Picture PostScript Text
3' UTR -290.70920-0.316 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013078 - His_Pase_superF_clade-1
IPR001345 - PG/BPGM_mutase_AS
IPR005952 - Phosphogly_mut1

Pfam Domains:
PF00300 - Histidine phosphatase superfamily (branch 1)

ModBase Predicted Comparative 3D Structure on Q6FHU2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0004082 bisphosphoglycerate mutase activity
GO:0004619 phosphoglycerate mutase activity
GO:0016853 isomerase activity
GO:0016868 intramolecular transferase activity, phosphotransferases

Biological Process:
GO:0006096 glycolytic process
GO:0008152 metabolic process

Cellular Component:
GO:0005634 nucleus
GO:0043209 myelin sheath


-  Descriptions from all associated GenBank mRNAs
  AK292216 - Homo sapiens cDNA FLJ77692 complete cds, highly similar to Homo sapiens phosphoglycerate mutase 1 (brain) (PGAM1), mRNA.
AK297491 - Homo sapiens cDNA FLJ53061 complete cds, highly similar to Phosphoglycerate mutase 1 (EC 5.4.2.1).
BC066959 - Homo sapiens phosphoglycerate mutase 1 (brain), mRNA (cDNA clone MGC:87445 IMAGE:5262935), complete cds.
BC000455 - Homo sapiens phosphoglycerate mutase 1 (brain), mRNA (cDNA clone MGC:8462 IMAGE:2821567), complete cds.
BC010038 - Homo sapiens phosphoglycerate mutase 1 (brain), mRNA (cDNA clone MGC:19732 IMAGE:3604026), complete cds.
AK295991 - Homo sapiens cDNA FLJ53048 complete cds, highly similar to Phosphoglycerate mutase 1 (EC 5.4.2.1).
BC157873 - Homo sapiens phosphoglycerate mutase 1 (brain), mRNA (cDNA clone MGC:189702 IMAGE:8862699), complete cds.
AK223096 - Homo sapiens mRNA for phosphoglycerate mutase 1 (brain) variant, clone: KAT05547.
AK293023 - Homo sapiens cDNA FLJ78401 complete cds, highly similar to Homo sapiens phosphoglycerate mutase 1 (brain) (PGAM1), mRNA.
AK125057 - Homo sapiens cDNA FLJ43067 fis, clone BRTHA3008694, highly similar to PHOSPHOGLYCERATE MUTASE, BRAIN FORM (EC 5.4.2.1).
J04173 - Homo sapiens phosphoglycerate mutase (PGAM-B) mRNA, complete cds.
AY007118 - Homo sapiens clone CDABP0006 mRNA sequence.
BC053356 - Homo sapiens phosphoglycerate mutase 1 (brain), mRNA (cDNA clone MGC:61519 IMAGE:5787678), complete cds.
BC062302 - Homo sapiens phosphoglycerate mutase 1 (brain), mRNA (cDNA clone MGC:71323 IMAGE:6584466), complete cds.
BC073742 - Homo sapiens phosphoglycerate mutase 1 (brain), mRNA (cDNA clone MGC:88744 IMAGE:6297173), complete cds.
AK312351 - Homo sapiens cDNA, FLJ92670, Homo sapiens phosphoglycerate mutase 1 (brain) (PGAM1), mRNA.
EU794644 - Homo sapiens epididymis secretory protein Li 35 (HEL-S-35) mRNA, complete cds.
DQ893065 - Synthetic construct clone IMAGE:100005695; FLH193238.01X; RZPDo839E0278D phosphoglycerate mutase 1 (brain) (PGAM1) gene, encodes complete protein.
DQ896318 - Synthetic construct Homo sapiens clone IMAGE:100010778; FLH193234.01L; RZPDo839E0268D phosphoglycerate mutase 1 (brain) (PGAM1) gene, encodes complete protein.
BC011678 - Homo sapiens phosphoglycerate mutase 1 (brain), mRNA (cDNA clone MGC:15086 IMAGE:4299008), complete cds.
CR541659 - Homo sapiens full open reading frame cDNA clone RZPDo834D1027D for gene PGAM1, phosphoglycerate mutase 1 (brain); complete cds, without stopcodon.
CR541744 - Homo sapiens full open reading frame cDNA clone RZPDo834F0629D for gene PGAM1, phosphoglycerate mutase 1 (brain); complete cds, incl. stopcodon.
AK315910 - Homo sapiens cDNA, FLJ78809 complete cds, highly similar to Phosphoglycerate mutase 1 (EC 5.4.2.1).
AK296619 - Homo sapiens cDNA FLJ51983 complete cds, highly similar to Phosphoglycerate mutase 1 (EC 5.4.2.1).
DQ599118 - Homo sapiens piRNA piR-37184, complete sequence.
DL491693 - Novel nucleic acids.
DL491692 - Novel nucleic acids.
DL490275 - Novel nucleic acids.
JD415395 - Sequence 396419 from Patent EP1572962.
JD134595 - Sequence 115619 from Patent EP1572962.
JD267027 - Sequence 248051 from Patent EP1572962.
JD301125 - Sequence 282149 from Patent EP1572962.
JD227694 - Sequence 208718 from Patent EP1572962.
JD193757 - Sequence 174781 from Patent EP1572962.
JD254998 - Sequence 236022 from Patent EP1572962.
JD067568 - Sequence 48592 from Patent EP1572962.
JD124182 - Sequence 105206 from Patent EP1572962.
JD272202 - Sequence 253226 from Patent EP1572962.
JD053017 - Sequence 34041 from Patent EP1572962.
JD322231 - Sequence 303255 from Patent EP1572962.
JD231407 - Sequence 212431 from Patent EP1572962.
JD232294 - Sequence 213318 from Patent EP1572962.
JD087249 - Sequence 68273 from Patent EP1572962.
JD262684 - Sequence 243708 from Patent EP1572962.
JD494668 - Sequence 475692 from Patent EP1572962.
JD494669 - Sequence 475693 from Patent EP1572962.
JD262685 - Sequence 243709 from Patent EP1572962.
JD290528 - Sequence 271552 from Patent EP1572962.
JD069009 - Sequence 50033 from Patent EP1572962.
JD160360 - Sequence 141384 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00010 - Glycolysis / Gluconeogenesis
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY66-399 - gluconeogenesis
PWY66-400 - glycolysis
PWY66-407 - superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000334828.1, ENST00000334828.2, ENST00000334828.3, ENST00000334828.4, ENST00000334828.5, hCG_2015269, hCG_25778, NM_002629, Q6FHU2, Q6FHU2_HUMAN, RP11-452K12.8-001, uc001knh.1, uc001knh.2, uc001knh.3, uc001knh.4, uc001knh.5
UCSC ID: ENST00000334828.6
RefSeq Accession: NM_002629
Protein: Q6FHU2 CCDS: CCDS7458.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.