Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5372
Gene name	Phosphomannomutase 1
Gene symbol	PMM1
Synonyms (NCBI Gene)	PMM 1PMMH-22Sec53
Chromosome	22
Chromosome location	22q13.2
Summary	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

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miRTarBase ID	miRNA	Experiments
MIRT2072211	hsa-miR-103a	CLIP-seq
MIRT2072212	hsa-miR-107	CLIP-seq
MIRT2072213	hsa-miR-1207-5p	CLIP-seq
MIRT2072214	hsa-miR-1301	CLIP-seq
MIRT2072215	hsa-miR-214	CLIP-seq
MIRT2072216	hsa-miR-3186-5p	CLIP-seq
MIRT2072217	hsa-miR-3619-5p	CLIP-seq
MIRT2072218	hsa-miR-4327	CLIP-seq
MIRT2072219	hsa-miR-4417	CLIP-seq
MIRT2072220	hsa-miR-4436b-3p	CLIP-seq
MIRT2072221	hsa-miR-4514	CLIP-seq
MIRT2072222	hsa-miR-4690-5p	CLIP-seq
MIRT2072223	hsa-miR-4692	CLIP-seq
MIRT2072224	hsa-miR-4763-3p	CLIP-seq
MIRT2072225	hsa-miR-5047	CLIP-seq
MIRT2072226	hsa-miR-761	CLIP-seq
MIRT2072227	hsa-miR-940	CLIP-seq
MIRT2299485	hsa-miR-1293	CLIP-seq
MIRT2299486	hsa-miR-3176	CLIP-seq
MIRT2299487	hsa-miR-3189-5p	CLIP-seq
MIRT2299488	hsa-miR-3922-3p	CLIP-seq
MIRT2299489	hsa-miR-4483	CLIP-seq
MIRT2299490	hsa-miR-4522	CLIP-seq
MIRT2456759	hsa-miR-1285	CLIP-seq
MIRT2456760	hsa-miR-1291	CLIP-seq
MIRT2456761	hsa-miR-296-5p	CLIP-seq
MIRT2456762	hsa-miR-3187-5p	CLIP-seq
MIRT2456763	hsa-miR-3192	CLIP-seq
MIRT2456764	hsa-miR-326	CLIP-seq
MIRT2456765	hsa-miR-330-5p	CLIP-seq
MIRT2456766	hsa-miR-3689a-3p	CLIP-seq
MIRT2456767	hsa-miR-3689c	CLIP-seq
MIRT2456768	hsa-miR-378g	CLIP-seq
MIRT2456769	hsa-miR-4292	CLIP-seq
MIRT2456770	hsa-miR-4486	CLIP-seq
MIRT2456771	hsa-miR-4728-5p	CLIP-seq
MIRT2456772	hsa-miR-612	CLIP-seq
MIRT2596121	hsa-miR-1281	CLIP-seq
MIRT2596122	hsa-miR-15a	CLIP-seq
MIRT2596123	hsa-miR-15b	CLIP-seq
MIRT2596124	hsa-miR-16	CLIP-seq
MIRT2596125	hsa-miR-195	CLIP-seq
MIRT2596126	hsa-miR-2110	CLIP-seq
MIRT2596127	hsa-miR-298	CLIP-seq
MIRT2596128	hsa-miR-300	CLIP-seq
MIRT2596129	hsa-miR-3182	CLIP-seq
MIRT2596130	hsa-miR-3663-3p	CLIP-seq
MIRT2596131	hsa-miR-3686	CLIP-seq
MIRT2596132	hsa-miR-381	CLIP-seq
MIRT2596133	hsa-miR-424	CLIP-seq
MIRT2596134	hsa-miR-4271	CLIP-seq
MIRT2596135	hsa-miR-4640-5p	CLIP-seq
MIRT2596136	hsa-miR-4725-3p	CLIP-seq
MIRT2596137	hsa-miR-4726-5p	CLIP-seq
MIRT2596138	hsa-miR-4733-3p	CLIP-seq
MIRT2596139	hsa-miR-497	CLIP-seq
MIRT2596140	hsa-miR-548q	CLIP-seq
MIRT2596141	hsa-miR-646	CLIP-seq
MIRT2596142	hsa-miR-661	CLIP-seq
MIRT2596143	hsa-miR-663b	CLIP-seq
MIRT2688258	hsa-miR-1280	CLIP-seq
MIRT2596121	hsa-miR-1281	CLIP-seq
MIRT2596122	hsa-miR-15a	CLIP-seq
MIRT2596123	hsa-miR-15b	CLIP-seq
MIRT2596124	hsa-miR-16	CLIP-seq
MIRT2688259	hsa-miR-1915	CLIP-seq
MIRT2596125	hsa-miR-195	CLIP-seq
MIRT2688260	hsa-miR-2117	CLIP-seq
MIRT2688261	hsa-miR-2355-5p	CLIP-seq
MIRT2596127	hsa-miR-298	CLIP-seq
MIRT2596128	hsa-miR-300	CLIP-seq
MIRT2596129	hsa-miR-3182	CLIP-seq
MIRT2688262	hsa-miR-3622a-5p	CLIP-seq
MIRT2596130	hsa-miR-3663-3p	CLIP-seq
MIRT2596131	hsa-miR-3686	CLIP-seq
MIRT2596132	hsa-miR-381	CLIP-seq
MIRT2596133	hsa-miR-424	CLIP-seq
MIRT2688263	hsa-miR-4286	CLIP-seq
MIRT2688264	hsa-miR-4423-3p	CLIP-seq
MIRT2072220	hsa-miR-4436b-3p	CLIP-seq
MIRT2596135	hsa-miR-4640-5p	CLIP-seq
MIRT2688265	hsa-miR-4684-5p	CLIP-seq
MIRT2688266	hsa-miR-4685-5p	CLIP-seq
MIRT2596137	hsa-miR-4726-5p	CLIP-seq
MIRT2596138	hsa-miR-4733-3p	CLIP-seq
MIRT2688267	hsa-miR-4777-3p	CLIP-seq
MIRT2596139	hsa-miR-497	CLIP-seq
MIRT2596140	hsa-miR-548q	CLIP-seq
MIRT2596141	hsa-miR-646	CLIP-seq
MIRT2596142	hsa-miR-661	CLIP-seq
MIRT2596143	hsa-miR-663b	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0004615	Function	Phosphomannomutase activity	EXP	16540464
GO:0004615	Function	Phosphomannomutase activity	IBA
GO:0004615	Function	Phosphomannomutase activity	IDA	16540464
GO:0004615	Function	Phosphomannomutase activity	IEA
GO:0004615	Function	Phosphomannomutase activity	TAS	9070917
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006013	Process	Mannose metabolic process	IBA
GO:0006013	Process	Mannose metabolic process	IDA	16540464
GO:0006013	Process	Mannose metabolic process	TAS	9070917
GO:0006487	Process	Protein N-linked glycosylation	IBA
GO:0009298	Process	GDP-mannose biosynthetic process	IEA
GO:0009298	Process	GDP-mannose biosynthetic process	TAS
GO:0016853	Function	Isomerase activity	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:1901293	Process	Nucleoside phosphate biosynthetic process	IEA
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA

MIM	HGNC	e!Ensembl
601786	9114	ENSG00000100417

Q92871

Protein name

Phosphomannomutase 1 (PMM 1) (EC 5.4.2.8) (PMMH-22)

Protein function

Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. In addition, may be responsible for the degradation of glucose-1,6-bisphosphate in ischemic brain. {ECO:00

PDB

2FUC , 2FUE , 6CFR , 6CFS , 6CFT , 6CFU , 6CFV

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03332	PMM	35 → 256	Eukaryotic phosphomannomutase	Family

Tissue specificity

TISSUE SPECIFICITY: Strong expression in liver, heart, brain, and pancreas; lower expression in skeletal muscle.

Sequence

MAVTAQAARRKERVLCLFDVDGTLTPARQKIDPEVAAFLQKLRSRVQIGVVGGSDYCKIA
EQLGDGDEVIEKFDYVFAENGTVQYKHGRLLSKQTIQNHLGEELLQDLINFCLSYMALLR
LPKKRGTFIEFRNGMLNISPIGRSCTLEERIEFSELDKKEKIREKFVEALKTEFAGKGLR
FSRGGMISFDVFPEGWDKRYCLDSLDQDSFDTIHFFGNETSPGGNDFEIFADPRTVGHSV
VSPQDTVQRCREIFFPETAHEA

Sequence length

262

Interactions

View interactions

	KEGG		Reactome
	Fructose and mannose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways Biosynthesis of cofactors Biosynthesis of nucleotide sugars		Synthesis of GDP-mannose

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Congenital disorder of glycosylation type 1A	Associate	16540464, 29261720	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorder Of Glycosylation Type In	Associate	36214454	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Associate	30530630	★★★★★ ★☆☆☆☆ Found in Text Mining only
Telomeric 22q13 Monosomy Syndrome	Associate	38002941	★★★★★ ★☆☆☆☆ Found in Text Mining only

PMM1 (phosphomannomutase 1)