SLC5A7 K499Nfs*13 [plasma membrane]

Stable Identifier
R-HSA-5658476
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
CHT, High affinity choline transporter 1, SC5A7_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
SLC5A7, CHT1
Chain
chain:1-580
Other Identifiers
0004780600
11737099_at
11737100_a_at
11750892_a_at
16884008
220722_s_at
222967_at
2498807
2498808
2498809
2498810
2498811
2498812
2498813
2498814
2498815
2498816
2498817
2498818
2498819
2498820
60482
8044191
A_14_P119523
A_14_P200825
A_14_P201014
A_32_P114502
A_33_P3299339
GE570472
GO:0001701
GO:0003674
GO:0005307
GO:0005575
GO:0005886
GO:0006810
GO:0006811
GO:0006814
GO:0007267
GO:0007269
GO:0007271
GO:0007274
GO:0008150
GO:0008292
GO:0009058
GO:0009790
GO:0015220
GO:0015293
GO:0015871
GO:0016020
GO:0016021
GO:0022857
GO:0030054
GO:0030424
GO:0030425
GO:0031594
GO:0033265
GO:0042136
GO:0043025
GO:0043167
GO:0043204
GO:0045202
GO:0048856
GO:0055085
GO:0098793
HMNXSV003053262
ILMN_1803748
PH_hs_0014915
TC02000661.hg
TC02003484.hg
g11141884_3p_a_at
g11231080_3p_at
Other forms of this molecule
Modified Residues
Name
Replacement of residues 499 to 510 by NIYLKVEPCHLN
Disease
Name Identifier Synonyms
motor peripheral neuropathy DOID:2477 HSMN, Hereditary motor and sensory neuropathy [Ambiguous], Neuropathic muscular atrophy, Hereditary motor and sensory neuropathy, HSMN, Neuropathic muscular atrophy, HSMN - Hereditary sensory and motor neuropathy, neuropathic muscular atrophy, Hereditary motor and sensory neuropathy
Cross References
OpenTargets
GeneCards
ZINC - Substances
ZINC target
PRO
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein
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