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
46105
60482
8044191
A_14_P119523
A_14_P200825
A_14_P201014
A_32_P114502
A_33_P3299339
AAG25940
AAI11526
AAY14927
AB043997
AC009963
AF276871
AJ308378
AJ308379
AJ308380
AJ308381
AJ308382
AJ308383
AJ308384
AJ401466
BAB18161
BC111525
CAC03717
CAC88115
CCDS2074
ENSG00000115665
ENSP00000264047
ENSP00000387346
ENST00000264047
ENST00000264047.2
ENST00000409059
ENST00000409059.5
EntrezGene:60482
EntrezGene:SLC5A7
g11141884_3p_a_at
g11231080_3p_at
GE570472
GO:0001701
GO:0003674
GO:0005307
GO:0005575
GO:0005623
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
HGNC:14025
HPA046105
ILMN_1803748
IPR001734
IPR038377
MIM:158580
MIM:608761
MIM:617143
NM_001305005
NM_001305006
NM_001305007
NM_021815
NP_001291934
NP_001291935
NP_001291936
NP_068587
PF00474
PH_hs_0014915
SLC5A7
SLC5A7-201
SLC5A7-202
TC02000661.hg
TC02003484.hg
UPI0000070792
XM_011511580
XM_017004628
XM_017004629
XP_011509882
XP_016860117
XP_016860118
Other forms of this molecule
Modified Residues
Name
Replacement of residues 499 to 510 by NIYLKVEPCHLN
Disease
Name Identifier Synonyms
motor peripheral neuropathy 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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