PGAM4 phosphoglycerate mutase family member 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PGAM4provided by HGNC
Official Full Name: phosphoglycerate mutase family member 4provided by HGNC
Primary source: HGNC:HGNC:21731
See related: Ensembl:ENSG00000226784 MIM:300567; AllianceGenome:HGNC:21731
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: PGAM1; PGAM3; PGAM-B; dJ1000K24.1
Summary: This intronless gene appears to have arisen from a retrotransposition event, yet it is thought to be an expressed, protein-coding gene. The encoded protein is a member of the phosphoglycerate mutase family, a set of enzymes that catalyze the transfer of a phosphate group from 3-phosphoglycerate to 2-phosphoglycerate. [provided by RefSeq, May 2010]
Orthologs: all
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Genomic context

Location:: Xq21.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (77967949..77969638, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (76403017..76404706, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (77223446..77225135, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PGAM4 coding region mutations were not observed and the G75C polymorphism is not associated with non-obstructive azoospermia susceptibility among the Chinese Han population.
Title: The PGAM4 gene in non-obstructive azoospermia.
PGAM4, an X-linked retrogene, is a fundamental gene in human male reproduction and may escape meiotic sex chromosome inactivation.
Title: A single nucleotide polymorphism within the novel sex-linked testis-specific retrotransposed PGAM4 gene influences human male fertility.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NIB1467 (e-PCR)
- UniSTS:45587

SHGC-8034 (e-PCR)
- UniSTS:90759

AL023617 (e-PCR)
- UniSTS:47558

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity	IEA Inferred from Electronic Annotation more info
enables bisphosphoglycerate mutase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables phosphoglycerate mutase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables phosphoglycerate mutase activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in glycolytic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glycolytic process	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of flagellated sperm motility	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in sperm principal piece	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: phosphoglycerate mutase 4

Names: phosphoglycerate mutase family 3; phosphoglycerate mutase processed protein; probable phosphoglycerate mutase 4

NP_001025062.1

EC 5.4.2.11

EC 5.4.2.4

NCBI Reference Sequences (RefSeq)

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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.