P34949 · MPI_HUMAN
- ProteinMannose-6-phosphate isomerase
- GeneMPI
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids423 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Isomerase that catalyzes the interconversion of fructose-6-P and mannose-6-P and has a critical role in the supply of D-mannose derivatives required for many eukaryotic glycosylation reactions.
Catalytic activity
- D-mannose 6-phosphate = D-fructose 6-phosphate
Cofactor
Note: Binds 1 zinc ion per subunit.
Kinetics
KM | SUBSTRATE | pH | TEMPERATURE[C] | NOTES | EVIDENCE | |
---|---|---|---|---|---|---|
0.23 mM | D-mannose 6-phosphate |
Pathway
Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; alpha-D-mannose 1-phosphate from D-fructose 6-phosphate: step 1/2.
Features
Showing features for binding site, active site.
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | cytosol | |
Cellular Component | extracellular exosome | |
Molecular Function | mannose-6-phosphate isomerase activity | |
Molecular Function | zinc ion binding | |
Biological Process | GDP-mannose biosynthetic process | |
Biological Process | GDP-mannose biosynthetic process from fructose-6-phosphate | |
Biological Process | mannose to fructose-6-phosphate catabolic process |
Keywords
- Molecular function
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameMannose-6-phosphate isomerase
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP34949
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Congenital disorder of glycosylation 1B (CDG1B)
- Note
- DescriptionA form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1B is clinically characterized by protein-losing enteropathy.
- See alsoMIM:602579
Natural variants in CDG1B
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_022516 | 51 | M>T | in CDG1B; dbSNP:rs764835081 | |
VAR_012338 | 102 | S>L | in CDG1B; dbSNP:rs104894494 | |
VAR_022517 | 129 | Y>C | in CDG1B; dbSNP:rs887249336 | |
VAR_022518 | 131 | D>N | in CDG1B; dbSNP:rs566620411 | |
VAR_012339 | 138 | M>T | in CDG1B; dbSNP:rs104894495 | |
VAR_012345 | 140 | I>T | in CDG1B; dbSNP:rs773678732 | |
VAR_022519 | 152 | R>Q | in CDG1B; dbSNP:rs766458792 | |
VAR_012340 | 219 | R>Q | in CDG1B; dbSNP:rs104894489 | |
VAR_022520 | 250 | G>S | in CDG1B; dbSNP:rs748090636 | |
VAR_022521 | 255 | Y>C | in CDG1B | |
VAR_022522 | 295 | R>H | in CDG1B; dbSNP:rs28928906 | |
VAR_022523 | 398 | I>T | in CDG1B; dbSNP:rs369326210 | |
VAR_022524 | 418 | R>H | in CDG1B; dbSNP:rs863225087 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_022516 | 51 | in CDG1B; dbSNP:rs764835081 | |||
Sequence: M → T | ||||||
Natural variant | VAR_012338 | 102 | in CDG1B; dbSNP:rs104894494 | |||
Sequence: S → L | ||||||
Natural variant | VAR_022517 | 129 | in CDG1B; dbSNP:rs887249336 | |||
Sequence: Y → C | ||||||
Natural variant | VAR_022518 | 131 | in CDG1B; dbSNP:rs566620411 | |||
Sequence: D → N | ||||||
Natural variant | VAR_012339 | 138 | in CDG1B; dbSNP:rs104894495 | |||
Sequence: M → T | ||||||
Natural variant | VAR_012345 | 140 | in CDG1B; dbSNP:rs773678732 | |||
Sequence: I → T | ||||||
Natural variant | VAR_022519 | 152 | in CDG1B; dbSNP:rs766458792 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_012340 | 219 | in CDG1B; dbSNP:rs104894489 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_022520 | 250 | in CDG1B; dbSNP:rs748090636 | |||
Sequence: G → S | ||||||
Natural variant | VAR_022521 | 255 | in CDG1B | |||
Sequence: Y → C | ||||||
Natural variant | VAR_022522 | 295 | in CDG1B; dbSNP:rs28928906 | |||
Sequence: R → H | ||||||
Natural variant | VAR_022523 | 398 | in CDG1B; dbSNP:rs369326210 | |||
Sequence: I → T | ||||||
Natural variant | VAR_022524 | 418 | in CDG1B; dbSNP:rs863225087 | |||
Sequence: R → H |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 492 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for initiator methionine, modified residue, chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Initiator methionine | 1 | Removed | ||||
Sequence: M | ||||||
Modified residue | 2 | N-acetylalanine | ||||
Sequence: A | ||||||
Chain | PRO_0000194235 | 2-423 | Mannose-6-phosphate isomerase | |||
Sequence: AAPRVFPLSCAVQQYAWGKMGSNSEVARLLASSDPLAQIAEDKPYAELWMGTHPRGDAKILDNRISQKTLSQWIAENQDSLGSKVKDTFNGNLPFLFKVLSVETPLSIQAHPNKELAEKLHLQAPQHYPDANHKPEMAIALTPFQGLCGFRPVEEIVTFLKKVPEFQFLIGDEAATHLKQTMSHDSQAVASSLQSCFSHLMKSEKKVVVEQLNLLVKRISQQAAAGNNMEDIFGELLLQLHQQYPGDIGCFAIYFLNLLTLKPGEAMFLEANVPHAYLKGDCVECMACSDNTVRAGLTPKFIDVPTLCEMLSYTPSSSKDRLFLPTRSQEDPYLSIYDPPVPDFTIMKTEVPGSVTEYKVLALDSASILLMVQGTVIASTPTTQTPIPLQRGGVLFIGANESVSLKLTEPKDLLIFRACCLL | ||||||
Modified residue | 102 | Phosphoserine | ||||
Sequence: S | ||||||
Modified residue | 108 | Phosphoserine | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
2D gel databases
PTM databases
Expression
Tissue specificity
Expressed in all tissues, but more abundant in heart, brain and skeletal muscle.
Gene expression databases
Organism-specific databases
Interaction
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | P34949-2 | CASP6 P55212 | 3 | EBI-21823432, EBI-718729 | |
BINARY | P34949-2 | HIP1 O00291 | 3 | EBI-21823432, EBI-473886 | |
BINARY | P34949-2 | LAMP2 P13473-2 | 3 | EBI-21823432, EBI-21591415 | |
BINARY | P34949-2 | PRPF40A O75400-2 | 3 | EBI-21823432, EBI-5280197 |
Protein-protein interaction databases
Chemistry
Miscellaneous
Structure
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
P34949-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length423
- Mass (Da)46,656
- Last updated2007-01-23 v2
- Checksum1612DD966B86D3AC
P34949-2
- Name2
- Differences from canonical
- 163-224: KVPEFQFLIGDEAATHLKQTMSHDSQAVASSLQSCFSHLMKSEKKVVVEQLNLLVKRISQQA → T
Computationally mapped potential isoform sequences
There are 17 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
H3BUZ9 | H3BUZ9_HUMAN | MPI | 339 | ||
H3BU66 | H3BU66_HUMAN | MPI | 168 | ||
H3BUG1 | H3BUG1_HUMAN | MPI | 125 | ||
H3BT48 | H3BT48_HUMAN | MPI | 319 | ||
H3BT46 | H3BT46_HUMAN | MPI | 213 | ||
H3BQX0 | H3BQX0_HUMAN | MPI | 175 | ||
H3BPM5 | H3BPM5_HUMAN | MPI | 173 | ||
B4DYB8 | B4DYB8_HUMAN | MPI | 228 | ||
H3BPB8 | H3BPB8_HUMAN | MPI | 403 | ||
H3BPU7 | H3BPU7_HUMAN | MPI | 119 | ||
H3BPP3 | H3BPP3_HUMAN | MPI | 287 | ||
H3BP57 | H3BP57_HUMAN | MPI | 288 | ||
H3BMZ9 | H3BMZ9_HUMAN | MPI | 264 | ||
H3BNY8 | H3BNY8_HUMAN | MPI | 185 | ||
H3BN01 | H3BN01_HUMAN | MPI | 174 | ||
H3BM77 | H3BM77_HUMAN | MPI | 71 | ||
F5GX71 | F5GX71_HUMAN | MPI | 373 |
Features
Showing features for alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_013357 | 163-224 | in isoform 2 | |||
Sequence: KVPEFQFLIGDEAATHLKQTMSHDSQAVASSLQSCFSHLMKSEKKVVVEQLNLLVKRISQQA → T |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
X76057 EMBL· GenBank· DDBJ | CAA53657.1 EMBL· GenBank· DDBJ | mRNA | ||
AF227218 EMBL· GenBank· DDBJ | AAF37697.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF227216 EMBL· GenBank· DDBJ | AAF37697.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF227217 EMBL· GenBank· DDBJ | AAF37697.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AK292374 EMBL· GenBank· DDBJ | BAF85063.1 EMBL· GenBank· DDBJ | mRNA | ||
CH471136 EMBL· GenBank· DDBJ | EAW99296.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC017351 EMBL· GenBank· DDBJ | AAH17351.1 EMBL· GenBank· DDBJ | mRNA | ||
BC046357 EMBL· GenBank· DDBJ | AAH46357.1 EMBL· GenBank· DDBJ | mRNA |