1. Gene
  2. SLC36A4 - solute carrier family 36 member 4 Gene

SLC36A4 - solute carrier family 36 member 4 Gene

Homo sapiens

Also known as PAT4

Gene ID: 120103 | Gene type: protein coding

About SLC36A4

Cytogenetic location: 11q21 Genomic coordinates (GRCh38): 11:93,144,174-93,197,991 (from NCBI)

This gene has 7 transcripts (splice variants), 194 orthologues and 15 paralogues. Ubiquitous expression in brain (RPKM 3.7), bone marrow (RPKM 3.3) and 25 other tissues.

Summary

SLC36A4 belongs to the SLC36 family of amino acid transporters based on sequence similarity with other family members (e.g., SLC36A1; MIM 606561). SLC36 proteins contain about 500 Amino acids and have 9 to 11 transmembrane domains. Unlike other SLC36 family members, which are proton-coupled amino acid transporters, SLC36A4 is a high-affinity/low-capacity non-proton-coupled amino acid transporter (Pillai and Meredith, 2011 [PubMed 21097500]).[supplied by OMIM, Feb 2011]

SLC36A4 Products(2)

mRNA Protein Name
NM_001286139.2 NP_001273068.1 proton-coupled amino acid transporter 4 isoform 2
NM_152313.4 NP_689526.2 proton-coupled amino acid transporter 4 isoform 1

SLC36A4 Protein Structure

Aa_trans

Aa_trans: Transmembrane amino acid transporter protein (58 - 471)

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

proton-coupled amino acid transporter 4

solute carrier family 36 (proton/amino acid symporter), member 4

Related Diseases

Diseases Alias
Iminoglycinuria

Iminoglycinuria, Digenic

IG

Epilepsy, Juvenile Absence 1

Epilepsy, Juvenile Absence, Susceptibility To, 1

EJA1

JAE1

Juvenile Absence Epilepsy 1

Susceptibility To Juvenile Absence Epilepsy 1

Epilepsy, Juvenile Absence, Susceptibility To, Type 1

Absence Epilepsy

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
Canis familiaris SLC36A4 VGNC VGNC:46385
Rattus norvegicus SLC36A4 RGD RGD:1311528
Bos taurus SLC36A4 VGNC VGNC:34841
Macaca mulatta SLC36A4 VGNC VGNC:101398
Mus musculus SLC36A4 MGD MGI:2442595
Felis catus SLC36A4 VGNC VGNC:65340