G6PI_HUMAN
Source:
PM19886704
PM23856902
BSc_CH
Marked as 'Non-membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
GPI
Protein names and data:
G6PI_HUMAN
, Glucose-6-phosphate isomerase; GPI; 5.3.1.9
, Autocrine motility factor; AMF; Neuroleukin; NLK; Phosphoglucose isomerase; PGI; Phosphohexose isomerase; PHI; Sperm antigen 36; SA-36
Lenght: 558 a.a.
Mass: 63147 Da
fasta formatted sequence
Function:
Besides it's role as a glycolytic enzyme, mammalian GPI can function as a tumor-secreted cytokine and an angiogenic factor (AMF) that stimulates endothelial cell motility. GPI is also a neurotrophic factor (Neuroleukin) for spinal and sensory neurons.
Catalytic activity:
D-glucose 6-phosphate = D-fructose 6- phosphate.
Pathway:
Carbohydrate degradation; glycolysis; D-glyceraldehyde 3- phosphate and glycerone phosphate from D-glucose: step 2/4.
Disease:
( OMIM:
172400
613470
)
Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]: A form of anemia in which there is no abnormal hemoglobin or spherocytosis. It is caused by glucose phosphate isomerase deficiency. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm. Secreted.
Genetic variants
5 - 5
T -> I (in HA-GPID; GPI Matsumoto). VAR_002516
20 - 20
H -> P (in HA-GPID; severe form with neurological deficits; GPI Homburg). VAR_002517
75 - 75
R -> G (in HA-GPID; GPI Elyria). VAR_002518
83 - 83
R -> W (in HA-GPID). VAR_002519
101 - 101
V -> M (in HA-GPID; GPI Sarcina). VAR_002521
159 - 159
G -> S (in HA-GPID). VAR_002520
195 - 195
T -> I (in HA-GPID; GPI Bari and Mola). VAR_002522
208 - 208
I -> T (in dbSNP:rs8191371). VAR_018816
8191371
224 - 224
T -> M (in HA-GPID; GPI Iwate; dbSNP:rs61754634). VAR_002523
61754634
273 - 273
R -> H (in HA-GPID). VAR_002524
278 - 278
S -> L (in HA-GPID; dbSNP:rs34306618). VAR_002525
34306618
300 - 300
A -> P (in HA-GPID). VAR_002526
308 - 308
R -> H (in dbSNP:rs2230294). VAR_033943
2230294
339 - 339
L -> P (in HA-GPID; severe form with neurological deficits; GPI Homburg). VAR_002527
343 - 343
Q -> R (in HA-GPID; GPI Narita and Morcone). VAR_002528
347 - 347
R -> C (in HA-GPID; GPI Mount Scopus). VAR_002529
347 - 347
R -> H (in HA-GPID). VAR_002530
375 - 375
T -> R (in HA-GPID; GPI Kinki). VAR_002531
389 - 389
H -> R (in HA-GPID; severe form; GPI Calden). VAR_002532
472 - 472
R -> H (in HA-GPID). VAR_002533
487 - 487
L -> F (in HA-GPID). VAR_002534
495 - 495
E -> K (in HA-GPID). VAR_002535
517 - 517
L -> V (in HA-GPID; severe form; GPI Calden). VAR_002536
525 - 525
I -> T (in HA-GPID). VAR_002537
539 - 539
D -> N (in HA-GPID; GPI Fukuoka and Kinki). VAR_002538
Database cross-references
UniProt:
P06744
Ensembl:
ENST00000356487
Ensembl:
ENST00000415930
MIM:
172400
MIM:
613470
neXtProt:
NX_P06744
Antibodypedia:
P06744
(may not find the protein thus also not any antibody)
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