SLC34A1 A48F [plasma membrane]

Stable Identifier
R-HSA-5651701
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Sodium-dependent phosphate transport protein 2A, NPT2A_HUMAN
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:Q06495 SLC34A1
Gene Names
SLC34A1, NPT2, SLC17A2
Chain
chain:1-639
Reference Genes
BioGPS Gene:6569 SLC34A1
COSMIC (genes):SLC34A1 SLC34A1
CTD Gene:6569 SLC34A1
dbSNP Gene:6569 SLC34A1
ENSEMBL:ENSG00000131183 SLC34A1
HGNC:11019 SLC34A1
KEGG Gene (Homo sapiens):6569 SLC34A1
Monarch:6569 SLC34A1
NCBI Gene:6569 SLC34A1
OMIM:182309 SLC34A1
UCSC:Q06495 SLC34A1
Reference Transcript
Other Identifiers
0004060070
11733578_a_at
11747701_a_at
11760532_a_at
16993065
208177_at
2843133
2843134
2843135
2843136
2843137
2843139
2843140
2843142
2843144
2843146
2843149
2843150
2843152
2843153
2843154
2843155
2843158
2843159
31328_at
6569
69446_at
8110347
A_21_P0000067
A_23_P58729
GE57623
GO:0001503
GO:0001822
GO:0003674
GO:0005436
GO:0005515
GO:0005575
GO:0005622
GO:0005634
GO:0005654
GO:0005737
GO:0005768
GO:0005829
GO:0005856
GO:0005886
GO:0005887
GO:0005903
GO:0006810
GO:0006811
GO:0006814
GO:0006817
GO:0007584
GO:0008150
GO:0009100
GO:0009986
GO:0010288
GO:0015293
GO:0016020
GO:0016021
GO:0016324
GO:0016607
GO:0022857
GO:0030165
GO:0030643
GO:0031226
GO:0031410
GO:0031526
GO:0031982
GO:0032026
GO:0032355
GO:0033189
GO:0034641
GO:0035435
GO:0035864
GO:0042431
GO:0042493
GO:0042592
GO:0042802
GO:0043226
GO:0043434
GO:0044267
GO:0044281
GO:0044341
GO:0044877
GO:0045121
GO:0045838
GO:0046686
GO:0046689
GO:0048471
GO:0048646
GO:0048856
GO:0055062
GO:0055085
GO:0060416
GO:0071107
GO:0071248
GO:0071374
GO:0072350
GO:0072686
GO:0072734
GO:0097066
GO:0097187
GO:0098719
GO:1901128
GO:1901652
GO:1901684
GO:2000120
GO:2000187
HMNXSV003000981
HMNXSV003055901
ILMN_1659991
L13258_at
PH_hs_0000120
TC05001014.hg
g4506984_3p_at
Participates
as a member of
Other forms of this molecule
SLC34A1 V147M [plasma membrane]
SLC34A1 [plasma membrane]
Modified Residues
Name
L-alanine 48 replaced with L-phenylalanine
Coordinate
48
PsiMod
L-phenylalanine residue [MOD:00023]
A protein modification that effectively converts a source amino acid residue to L-phenylalanine.
L-alanine removal [MOD:01631]
A protein modification that effectively removes or replaces an L-alanine.
Disease
Name Identifier Synonyms
hypophosphatemia DOID:0050336
nephrolithiasis DOID:585 Stone - kidney/ureter, calculus of kidney and ureter (disorder), NEPHROLITHIASIS, CALCIUM OXALATE, Stone - kidney/ureter, kidney stones, UROLITHIASIS, CALCIUM OXALATE
renal tubular transport disease DOID:447 inborn renal tubular transport disorder
Cross References
RefSeq
Guide to Pharmacology - Targets
OpenTargets
GeneCards
HPA
Ensembl
PRO
Pharos - Targets
Orphanet
GlyGen
HMDB Protein
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