Reactome | SLC6A19 I596Hfs*73 [plasma membrane]

SLC6A19 I596Hfs*73 [plasma membrane]

Stable Identifier

R-HSA-5659728

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

Synonyms

Sodium-dependent neutral amino acid transporter B(0)

Locations in the PathwayBrowser

Expand all

External Reference Information

External Reference

UniProt:Q695T7 SLC6A19

Gene Names

SLC6A19, B0AT1

Chain

chain:1-634

Reference Genes

BioGPS Gene:340024 SLC6A19

COSMIC (genes):SLC6A19 SLC6A19

CTD Gene:340024 SLC6A19

dbSNP Gene:340024 SLC6A19

ENSEMBL:ENSG00000174358 SLC6A19

ENSEMBL_homo_sapiens_GENE:ENSG00000174358.16 SLC6A19

HGNC:27960 SLC6A19

KEGG Gene (Homo sapiens):340024 SLC6A19

Monarch:340024 SLC6A19

NCBI Gene:340024 SLC6A19

OMIM:608893 SLC6A19

UCSC:Q695T7 SLC6A19

Reference Transcript

RefSeq:NM_001003841.2 SLC6A19

Other Identifiers

11722779_a_at

11722780_at

11722781_at

16982699

231021_PM_at

231021_at

231480_PM_at

231480_at

238177_PM_at

238177_at

2799031

2799032

2799033

2799034

2799036

2799037

2799038

2799039

2799041

2799043

2799045

2799047

2799048

2799049

2799050

2799051

2799052

2799053

2799054

2799055

2799057

2799058

2799059

2799060

2799061

340024

8104268

82143_at

83047_at

90109_at

A_14_P202457

A_23_P62070

A_33_P3220545

GE88804

GO:0003333

GO:0005215

GO:0005515

GO:0005576

GO:0005615

GO:0005886

GO:0006865

GO:0007584

GO:0015171

GO:0015175

GO:0015293

GO:0015804

GO:0016020

GO:0016324

GO:0019058

GO:0022857

GO:0031526

GO:0035725

GO:0043226

GO:0055085

GO:0070062

GO:0071702

GO:0071705

HMNXSV003015250

Hs.127748.0.A1_3p_at

Hs.127748.0.A1_3p_x_at

Hs.148367.0.A1_3p_at

Hs.163323.0.A1_3p_at

ILMN_1724021

PH_hs_0038461

TC05000016.hg

Participates

as a member of

SLC6A19 mutants [plasma membrane] (Homo sapiens)

Other forms of this molecule

SLC6A19 V295Afs*57 [plasma membrane]

SLC6A19 D173N [plasma membrane]

SLC6A19 S303L [plasma membrane]

SLC6A19 R240* [plasma membrane]

SLC6A19 [plasma membrane]

Modified Residues

Name

Replacement of residues 596 to 667 by HPWLCHLQAHQEPLPEARGPSGAGEHTVHSLHERGPEVLRRPIPRRAIHWCQGRRNQQDLWGGGRAAPACV

Disease

Name	Identifier	Synonyms
Hartnup disease	DOID:1060	neutral amino acid transport defect, Neutral 1 amino acid transport defect (disorder), deficiency of tryptophan oxygenase

Cross References

RefSeq

NP_001003841.1

Guide to Pharmacology - Targets

939

OpenTargets

ENSG00000174358

HPA

ENSG00000174358-SLC6A19

GeneCards

Q695T7

Ensembl

ENSG00000174358, ENST00000304460, ENSP00000305302

PRO

Q695T7

Pharos - Targets

Q695T7

Orphanet

15518

HMDB Protein

HMDBP08226

PDB

6M18, 8I93, 8I92, 6M17, 7DWX, 7V61, 6M1D

Interactors (1)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q9BYF1 ACE2	5	ACE2(18-805) [plasma membrane] (R-HSA-2022344) ACE2 [endoplasmic reticulum lumen] (R-HSA-9683474) glycosylated-ACE2 [endocytic vesicle membrane] (R-HSA-9686721) ACE2 [endocytic vesicle membrane] (R-HSA-9698958) glycosylated-ACE2 [plasma membrane] (R-HSA-9683480)	0.635	4