• Gene id: 5372

Gene Summary

• Gene Symbol: PMM1   Gene   UCSC   Ensembl
• Aliases: PMM 1, PMMH-22, Sec53
• Gene name: phosphomannomutase 1
• Alternate names: phosphomannomutase 1, brain glucose-1,6-bisphosphatase,
• Gene location: 22q13.2 (41589865: 41576894)     Exons: 10     NC_000022.11
• Gene summary(Entrez): Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis. GDP-mannose is used for synthesis of dolichol-phosphate-mannose, which is essential for N-linked glycosylat
• OMIM: 601786

SNPs

rs7354779

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.44250887T>C
NC_000021.8   g.45670770T>C
NM_013369.3   c.832A>G
NM_013369.4   c.832A>G
NM_175867.2   c.832A>G
NM_175867.3   c.832A>G
NR_135514.1   n.75T>C
NP_037501.2   p.Arg278Gly
NP_787063.1   p.Arg278Gly|SEQ=[T/C]|GENE=DNMT3L
DNMT3L-AS1   1053728

Protein Summary

• Protein general information: Q92871  
  • Name: Phosphomannomutase 1 (PMM 1) (EC 5.4.2.8) (PMMH 22)
  • Length: 262  
  • Mass: 29747
  • Tissue specificity: Strong expression in liver, heart, brain, and pancreas; lower expression in skeletal muscle.
• Sequence:

  MAVTAQAARRKERVLCLFDVDGTLTPARQKIDPEVAAFLQKLRSRVQIGVVGGSDYCKIAEQLGDGDEVIEKFDY
  VFAENGTVQYKHGRLLSKQTIQNHLGEELLQDLINFCLSYMALLRLPKKRGTFIEFRNGMLNISPIGRSCTLEER
  IEFSELDKKEKIREKFVEALKTEFAGKGLRFSRGGMISFDVFPEGWDKRYCLDSLDQDSFDTIHFFGNETSPGGN
  DFEIFADPRTVGHSVVSPQDTVQRCREIFFPETAHEA

• Structural information:
  • Interpro: IPR036412  IPR006379  IPR023214  IPR005002  
  • CDD: cd02585
  • PDB: 2FUC 2FUE 6CFR 6CFS 6CFT 6CFU 6CFV
  • PDBsum: 2FUC 2FUE 6CFR 6CFS 6CFT 6CFU 6CFV
  • STRING: ENSP00000216259
• Other Databases: GeneCards:  PMM1  Malacards:  PMM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006013	mannose metabolic process	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0045047	protein targeting to ER	IBA	biological process
GO:0006487	protein N-linked glycosylation	IBA	biological process
GO:0004615	phosphomannomutase activity	IBA	molecular function
GO:0006013	mannose metabolic process	IDA	biological process
GO:0004615	phosphomannomutase activity	IDA	molecular function
GO:0004615	phosphomannomutase activity	IEA	molecular function
GO:0009298	GDP-mannose biosynthetic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016853	isomerase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004615	phosphomannomutase activity	TAS	molecular function
GO:0006013	mannose metabolic process	TAS	biological process
GO:0004615	phosphomannomutase activity	IEA	molecular function
GO:0009298	GDP-mannose biosynthetic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:1990830	cellular response to leukemia inhibitory factor	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0009298	GDP-mannose biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00520	Amino sugar and nucleotide sugar metabolism
hsa00051	Fructose and mannose metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq