Human Gene PGAM1 (ENST00000334828.6_4) from GENCODE V47lift37

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Description: phosphoglycerate mutase 1, transcript variant 1 (from RefSeq NM_002629.4)
Gencode Transcript: ENST00000334828.6_4
Gencode Gene: ENSG00000171314.9_7
Transcript (Including UTRs)
Position: hg19 chr10:99,185,948-99,193,201 Size: 7,254 Total Exon Count: 4 Strand: +
Coding Region
Position: hg19 chr10:99,186,065-99,192,281 Size: 6,217 Coding Exon Count: 4

Page Index	Sequence and Links	Primers	MalaCards	CTD	Gene Alleles
RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species	GO Annotations
mRNA Descriptions	Pathways	Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr10:99,185,948-99,193,201)			mRNA (may differ from genome)		Protein (254 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	Malacards	MGI	OMIM	PubMed	UniProtKB
BioGrid CRISPR DB

Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

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 D013749 Tetrachlorodibenzodioxin D001564 Benzo(a)pyrene D003993 Dibutyl Phthalate D000431 Ethanol D037742 Nanotubes, Carbon D010634 Phenobarbital C006253 pirinixic acid C017947 sodium arsenite C021279 (1R-(exo,exo))-3-(4-fluorophenyl)-8-methyl-8- azabicyclo(3.2.1)octane-2-carboxylic acid, methyl ester C049325 1,2-dithiol-3-thione more ... click here to view the complete list

Common Gene Haplotype Alleles


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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


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mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-49.70	117	-0.425	Picture	PostScript	Text
3' UTR	-290.70	920	-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)

SCOP Domains:
53254 - Phosphoglycerate mutase-like

ModBase Predicted Comparative 3D Structure on Q6FHU2


Front	Top	Side

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.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog
Gene Details	Gene Details
Gene Sorter	Gene Sorter
	RGD	Ensembl

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


	AK125057 - Homo sapiens cDNA FLJ43067 fis, clone BRTHA3008694, highly similar to PHOSPHOGLYCERATE MUTASE, BRAIN FORM (EC 5.4.2.1). 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. 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


	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 , HEL-S-35 , NM_002629, PGAM1 , Q6FHU2, Q6FHU2_HUMAN, uc317ucd.1, uc317ucd.2 UCSC ID: ENST00000334828.6_4 RefSeq Accession: NM_002629.4 Protein: Q6FHU2

Gene Model Information


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Methods, Credits, and Use Restrictions


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