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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Amino acid transporter heavy chain SLC3A1
Summary
- UniProt ID
- Q07837
- Gene Symbol
-
- SLC3A1
- NBAT
- Organism
- Homo sapiens (human)
External Links
- GlyGen
- Q07837
- PubChem
- Q07837
- The Human Metabolome Database
- HMDBP01812
- The O-GlcNAc Database
- Q07837
- RaftProt
- Q07837
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Amino-acid transport
- Cell membrane
- Cystinuria
- Disease variant
- Disulfide bond
- Glycoprotein
- Phosphoprotein
- Reference proteome
- Signal-anchor
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| membrane |
| vacuolar membrane |
| plasma membrane |
| extracellular exosome |
| apical plasma membrane |
| brush border membrane |
Sequence
MAEDKSKRDSIEMSMKGCQTNNGFVHNEDILEQTPDPGSSTDNLKHSTRGILGSQEPDFKGVQPYAGMPKEVLFQFSGQARYRIPREILFWLTVASVLVLIAATIAIIALSPKCLDWWQEGPMYQIYPRSFKDSNKDGNGDLKGIQDKLDYITALNIKTVWITSFYKSSLKDFRYGVEDFREVDPIFGTMEDFENLVAAIHDKGLKLIIDFIPNHTSDKHIWFQLSRTRTGKYTDYYIWHDCTHENGKTIPPNNWLSVYGNSSWHFDEVRNQCYFHQFMKEQPDLNFRNPDVQEEIKEILRFWLTKGVDGFSLDAVKFLLEAKHLRDEIQVNKTQIPDTVTQYSELYHDFTTTQVGMHDIVRSFRQTMDQYSTEPGRYRFMGTEAYAESIDRTVMYYGLPFIQEADFPFNNYLSMLDTVSGNSVYEVITSWMENMPEGKWPNWMIGGPDSSRLTSRLGNQYVNVMNMLLFTLPGTPITYYGEEIGMGNIVAANLNESYDINTLRSKSPMQWDNSSNAGFSEASNTWLPTNSDYHTVNVDVQKTQPRSALKLYQDLSLLHANELLLNRGWFCHLRNDSHYVVYTRELDGIDRIFIVVLNFGESTLLNLHNMISGLPAKMRIRLSTNSADKGSKVDTSGIFLDKGEGLIFEHNTKNLLHRQTAFRDRCFVSNRACYSSVLNILYTSC
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 214 | N-linked (GlcNAc...) asparagine |
|
||
| 261 | N-linked (GlcNAc...) asparagine |
|
||
| 332 | N-linked (GlcNAc...) asparagine | |||
| 495 | N-linked (GlcNAc...) asparagine |
|
||
| 513 | N-linked (GlcNAc...) asparagine |
|
||
| 575 | N-linked (GlcNAc...) asparagine | |||
|
|
G01160VV
G30740WO
G16125XL
G68490OW
G60834IK
G85282JO
G87123QX
G02528FI
G07246CJ
G85554PZ
G10819WX
G14972EH
G49642SA
G49906RN
G27915IV
G70441OD
G87661QW
G15664MX
G83460ZZ
G60033FS
G41071NU
G72747WU
G80920RR
G65184UU
G62765YT
G31852PQ
G23719VF
G41247ZX
G02815KT
G54010QB
G71463BG
G04657PL
G27058EU
G07755XJ
G86182NS
G84862VB
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Amino acid transport across the plasma membrane | Homo sapiens |
| Defective SLC3A1 causes cystinuria (CSNU) | Homo sapiens |
| Defective SLC7A9 causes cystinuria (CSNU) | Homo sapiens |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:9870 | galactosemia | |
| DOID:0060260 | ptosis | |
| DOID:0060261 | congenital ptosis | |
| DOID:0060858 | hypotonia-cystinuria syndrome | |
| DOID:0080587 | congenital myasthenic syndrome 22 | |
| DOID:0110273 | autosomal dominant limb-girdle muscular dystrophy | |
| DOID:0110274 | autosomal recessive limb-girdle muscular dystrophy | |
| DOID:0110275 | autosomal recessive limb-girdle muscular dystrophy type 2A | |
| DOID:0110276 | autosomal recessive limb-girdle muscular dystrophy type 2B | |
| DOID:0110277 | autosomal recessive limb-girdle muscular dystrophy type 2C |
