SLC17A5 I373Lfs*26

Stable Identifier
R-HSA-5624247
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Sialin, S17A5_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
SLC17A5
Chain
chain:1-495
Reference Transcript
Other Identifiers
0001230066
11723476_at
11723477_x_at
11752119_x_at
11753191_a_at
11758156_s_at
17020823
221041_s_at
223441_at
26503
2960959
2960960
2960961
2960962
2960963
2960964
2960968
2960970
2960971
2960972
2960977
2960978
2960979
2960980
2960982
2960983
2960994
2960995
2960996
2960997
44479
65644_at
8127549
88617_at
A_23_P110896
A_33_P3265270
A_33_P3416321
CCDS4981
ENSG00000119899
ENSP00000348019
ENST00000355773
EntrezGene:26503
g6912665_3p_a_at
GE58496
GO:0005351
GO:0005764
GO:0005765
GO:0005829
GO:0005886
GO:0005887
GO:0006810
GO:0006811
GO:0006820
GO:0006865
GO:0015136
GO:0015293
GO:0015538
GO:0015739
GO:0015992
GO:0016020
GO:0016021
GO:0030054
GO:0030672
GO:0031410
GO:0045202
GO:0055085
GO:1905039
HGNC:10933
HPA044479
Hs.117865.1.S2_3p_at
Hs.597422
ILMN_1684434
ILMN_1771317
ILMN_3251399
MIM:269920
MIM:604322
MIM:604369
NM_012434
NP_036566
PF07690
PH_hs_0006462
SLC17A5
SLC17A5-201
TC06001876.hg
uc003phn.5
UPI000003B2DE
XM_005248710
XM_005248711
XM_011535750
XM_017010730
XM_017010731
XP_005248767
XP_005248768
XP_011534052
XP_016866219
XP_016866220
Participant Of
Other forms of this molecule
Modified Residues
Name
Replacement of residues 373 to 397 by LVSSWASQIHLPLFQEWLGPSLLKV
Disease
Name Identifier Synonyms
inherited metabolic disorder 655 Metabolic hereditary disorder, Inborn Errors of Metabolism, inborn metabolism disorder
Cross References
RefSeq
Brenda
GeneCards
PRO
Orphanet
HMDB Protein