1. Gene
  2. SLC36A1 - solute carrier family 36 member 1 Gene

SLC36A1 - solute carrier family 36 member 1 Gene

Homo sapiens

Also known as Dct1; PAT1; LYAAT1; TRAMD3

Gene ID: 206358 | Gene type: protein coding

About SLC36A1

Cytogenetic location: 5q33.1 Genomic coordinates (GRCh38): 5:151,344,596-151,556,085 (from NCBI)

This gene has 11 transcripts (splice variants), 249 orthologues and 15 paralogues. Broad expression in duodenum (RPKM 7.4), small intestine (RPKM 6.6) and 20 other tissues.

Summary

This gene encodes a member of the eukaryote-specific amino acid/Auxin permease (AAAP) 1 transporter family. The encoded protein functions as a proton-dependent, small amino acid transporter. This gene is clustered with related family members on chromosome 5q33.1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

SLC36A1 Products(4)

mRNA Protein Name
NM_001308150.2 NP_001295079.1 proton-coupled amino acid transporter 1 isoform b
NM_001308151.2 NP_001295080.1 proton-coupled amino acid transporter 1 isoform c
NM_001349740.2 NP_001336669.1 proton-coupled amino acid transporter 1 isoform d
NM_078483.4 NP_510968.2 proton-coupled amino acid transporter 1 isoform a
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables alanine transmembrane transporter activity IDA
IDA: Inferred from direct assay
19074966 GOA
enables amino acid:proton symporter activity IDA
IDA: Inferred from direct assay
12527723 GOA
enables proline:proton symporter activity IDA
IDA: Inferred from direct assay
12527723 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables taurine transmembrane transporter activity IDA
IDA: Inferred from direct assay
19074966 GOA
Biological Process GO Annotation Evidence Reference Source
involved in alanine transport IDA
IDA: Inferred from direct assay
19074966 GOA
involved in amino acid import across plasma membrane IDA
IDA: Inferred from direct assay
19074966 GOA
involved in taurine transmembrane transport IDA
IDA: Inferred from direct assay
19074966 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC36A1 Protein Structure

Aa_trans

Aa_trans: Transmembrane amino acid transporter protein (46 - 454)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 476 a.a.
Protein Preferred Names Protein Names

proton-coupled amino acid transporter 1

lysosomal amino acid transporter 1

Related Diseases

Diseases Alias
Iminoglycinuria

Iminoglycinuria, Digenic

IG

Hyperglycinuria

Glycinuria With Or Without Oxalate Urolithiasis

Glycinuria With Or Without Oxalate Nephrolithiasis

Iminoglycinuria Type Ii

HG

Hartnup Disorder

Hartnup Disease

HND

Neutral 1 Amino Acid Transport Defect

Neutral Amino Acid Transport Defect

Deficiency Of Tryptophan Oxygenase

Hartnup'S Disease

Aminoaciduria, Hartnup Type

Disorder Of Neutral Amino Acid Transport

Digenic Disease
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus SLC36A1 VGNC VGNC:102322
Canis familiaris SLC36A1 VGNC VGNC:46382
Macaca mulatta SLC36A1 VGNC VGNC:77509
Mus musculus SLC36A1 MGD MGI:2445299
Bos taurus SLC36A1 VGNC VGNC:34838
Rattus norvegicus SLC36A1 RGD RGD:619801