|
Human Gene
Name
|
Protein
Name
|
Aliases
|
Predominant Substrates
|
Transport type /Coupling ions
*)
|
Tissue distribution and cellular/
subcellular expression
|
Link to disease #)
|
Map position
|
Sequence
Accession
ID
|
Splice variants and their
specific features
|
|
SLC37A1
|
SPX1
|
G3PP
|
Glycerol 3-phosphate (?)
|
E/Inorganic phosphate (?)
|
Adult bone marrow, colon,
small intestine, kidney, liver and other tissues. Fetal liver,
spleen and other tissues
|
|
21q22.3
|
NM_018964
|
Seven 5’ untranslated exons
which form at least 4 different 5’ ends
|
|
SLC37A4
|
SPX4
|
G6PT1
|
Glucose-6-phosphate
|
E/Inorganic phosphate
|
Strongly expressed in liver,
kidney and hematopoietic progenitor cells
|
OMIM 232220/232240 Glycogen
storage disease non-1a
|
11q23.3
|
NM_001467
|
Exon 7 is present in the brain-specific
isoform (present also in skeletal muscle and heart)
|