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BPGM bisphosphoglycerate mutase [ Homo sapiens (human) ]

Gene ID: 669, updated on 20-Dec-2019

Summary

Official Symbol
BPGMprovided by HGNC
Official Full Name
bisphosphoglycerate mutaseprovided by HGNC
Primary source
HGNC:HGNC:1093
See related
Ensembl:ENSG00000172331 MIM:613896
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
DPGM; ECYT8
Summary
2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. The enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this enzyme increases the affinity of cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]
Expression
Broad expression in bone marrow (RPKM 22.0), placenta (RPKM 21.2) and 24 other tissues See more
Orthologs

Genomic context

See BPGM in Genome Data Viewer
Location:
7q33
Exon count:
6
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (134646779..134679816)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (134331531..134364568)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375520 Neighboring gene aldo-keto reductase family 1 member B15 Neighboring gene CRISPRi-validated cis-regulatory element chr7.4787 Neighboring gene uncharacterized LOC107986850 Neighboring gene tubulin beta 3 class III pseudogene 2

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
bisphosphoglycerate mutase activity IEA
Inferred from Electronic Annotation
more info
 
hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
phosphoglycerate mutase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
canonical glycolysis TAS
Traceable Author Statement
more info
 
carbohydrate metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
erythrocyte development IEA
Inferred from Electronic Annotation
more info
 
respiratory gaseous exchange TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 

General protein information

Preferred Names
bisphosphoglycerate mutase
Names
2,3-bisphosphoglycerate mutase, erythrocyte
2,3-bisphosphoglycerate synthase
2,3-diphosphoglycerate mutase
BPG-dependent PGAM
erythrocyte 2,3-bisphosphoglycerate mutase
testis secretory sperm-binding protein Li 202a
NP_001280014.1
NP_001715.1
NP_954655.1
XP_011514829.1

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.

Genomic

  1. NG_012921.1 RefSeqGene

    Range
    5001..38038
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001293085.1NP_001280014.1  bisphosphoglycerate mutase

    See identical proteins and their annotated locations for NP_001280014.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 2. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    BC017050, BU608668, DA701935, DB047822
    Consensus CDS
    CCDS5833.1
    UniProtKB/Swiss-Prot
    P07738
    UniProtKB/TrEMBL
    A0A024R782
    Related
    ENSP00000399838.1, ENST00000418040.5
    Conserved Domains (1) summary
    cl11399
    Location:4255
    HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction
  2. NM_001724.5NP_001715.1  bisphosphoglycerate mutase

    See identical proteins and their annotated locations for NP_001715.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    BC017050, BU608668
    Consensus CDS
    CCDS5833.1
    UniProtKB/Swiss-Prot
    P07738
    UniProtKB/TrEMBL
    A0A024R782
    Related
    ENSP00000342032.3, ENST00000344924.8
    Conserved Domains (1) summary
    cl11399
    Location:4255
    HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction
  3. NM_199186.2NP_954655.1  bisphosphoglycerate mutase

    See identical proteins and their annotated locations for NP_954655.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longer transcript. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    BC017050, BU608668, DB047822, DB049554
    Consensus CDS
    CCDS5833.1
    UniProtKB/Swiss-Prot
    P07738
    UniProtKB/TrEMBL
    A0A024R782
    Related
    ENSP00000376840.2, ENST00000393132.2
    Conserved Domains (1) summary
    cl11399
    Location:4255
    HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    134646779..134679816
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516527.2XP_011514829.1  bisphosphoglycerate mutase isoform X1

    See identical proteins and their annotated locations for XP_011514829.1

    UniProtKB/Swiss-Prot
    P07738
    UniProtKB/TrEMBL
    A0A024R782
    Conserved Domains (1) summary
    cl11399
    Location:4255
    HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction
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