Reactome | SLC5A7 K499Nfs*13 [plasma membrane]

SLC5A7 K499Nfs*13 [plasma membrane]

Stable Identifier

R-HSA-5658476

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

Synonyms

CHT, High affinity choline transporter 1, SC5A7_HUMAN

Locations in the PathwayBrowser

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External Reference Information

External Reference

UniProt:Q9GZV3 SLC5A7

Gene Names

SLC5A7, CHT1

Chain

chain:1-580

Reference Genes

BioGPS Gene:60482 SLC5A7

COSMIC (genes):SLC5A7 SLC5A7

CTD Gene:60482 SLC5A7

dbSNP Gene:60482 SLC5A7

ENSEMBL:ENSG00000115665 SLC5A7

ENSEMBL_homo_sapiens_GENE:ENSG00000115665.9 SLC5A7

HGNC:14025 SLC5A7

KEGG Gene (Homo sapiens):60482 SLC5A7

Monarch:60482 SLC5A7

NCBI Gene:60482 SLC5A7

OMIM:608761 SLC5A7

UCSC:Q9GZV3 SLC5A7

Reference Transcript

Other Identifiers

11737099_at

11737100_a_at

11750892_a_at

16884008

220722_PM_s_at

220722_s_at

222967_PM_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:0005215

GO:0005307

GO:0005768

GO:0005886

GO:0006811

GO:0006814

GO:0006836

GO:0007271

GO:0007274

GO:0008292

GO:0015220

GO:0015293

GO:0015871

GO:0016020

GO:0022857

GO:0023052

GO:0030424

GO:0030425

GO:0030672

GO:0031410

GO:0031594

GO:0031901

GO:0033265

GO:0042734

GO:0042995

GO:0043025

GO:0043204

GO:0043226

GO:0045202

GO:0048856

GO:0055085

HMNXSV003053262

ILMN_1803748

PH_hs_0014915

TC02000661.hg

TC02003484.hg

g11141884_3p_a_at

g11231080_3p_at

p33871

Other forms of this molecule

SLC5A7 [plasma membrane]

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

RefSeq

NP_001291934.1, NP_068587.1

Guide to Pharmacology - Targets

914

OpenTargets

ENSG00000115665

ZINC - Substances

SC5A7_HUMAN

ZINC target

Q9GZV3

PRO

Q9GZV3

PDB

8J75, 8J76, 8J77, 8J74

HPA

ENSG00000115665-SLC5A7

GeneCards

Q9GZV3

Ensembl

ENSP00000387346, ENSP00000264047, ENSG00000115665, ENST00000409059, ENST00000264047

Pharos - Targets

Q9GZV3

ZINC - Predictions - Purchasable

SC5A7_HUMAN

Orphanet

21731

HMDB Protein

HMDBP02379

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