1. Gene
  2. SLC6A14 - solute carrier family 6 member 14 Gene

SLC6A14 - solute carrier family 6 member 14 Gene

Homo sapiens

Also known as BMIQ11

Gene ID: 11254 | Gene type: protein coding

About SLC6A14

Cytogenetic location: Xq23 Genomic coordinates (GRCh38): X:116,436,606-116,461,458 (from NCBI)

This gene has 2 transcripts (splice variants), 30 orthologues, 19 paralogues and is associated with 1 phenotype. Biased expression in lung (RPKM 8.9), salivary gland (RPKM 4.7) and 7 other tissues.

Summary

This gene encodes a member of the solute carrier family 6. Members of this family are sodium and chloride dependent neurotransmitter transporters. The encoded protein transports both neutral and cationic Amino acids. This protein may also function as a beta-alanine carrier. Mutations in this gene may be associated with X-linked obesity. A pseudogene of this gene is found on chromosome X.[provided by RefSeq, May 2010]

SLC6A14 Products(1)

mRNA Protein Name
NM_007231.5 NP_009162.1 sodium- and chloride-dependent neutral and basic amino acid transporter B(0+)
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables (R)-carnitine transmembrane transporter activity IDA
IDA: Inferred from direct assay
17855766 GOA
enables alanine transmembrane transporter activity IDA
IDA: Inferred from direct assay
19074966 GOA
enables aromatic amino acid transmembrane transporter activity IDA
IDA: Inferred from direct assay
10446133 GOA
enables beta-alanine transmembrane transporter activity IDA
IDA: Inferred from direct assay
18599538 GOA
enables branched-chain amino acid:sodium symporter activity IDA
IDA: Inferred from direct assay
10446133 GOA
enables neutral, basic amino acid:sodium:chloride symporter activity IDA
IDA: Inferred from direct assay
10446133 GOA
Biological Process GO Annotation Evidence Reference Source
involved in (R)-carnitine transmembrane transport IDA
IDA: Inferred from direct assay
17855766 GOA
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
10446133 GOA
involved in beta-alanine transport IDA
IDA: Inferred from direct assay
18599538 GOA
involved in response to toxic substance IDA
IDA: Inferred from direct assay
17575980 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

SLC6A14 Protein Structure

SNF

SNF: Sodium:neurotransmitter symporter family (36 - 587)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 642 a.a.
Protein Preferred Names Protein Names

sodium- and chloride-dependent neutral and basic amino acid transporter B(0+)

amino acid transporter ATB0+

Related Diseases

Diseases Alias
Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Ileus

Ileus Of Intestine

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

Estrogen-Receptor Positive Breast Cancer
Hyperekplexia

Hereditary Hyperekplexia

Kok Disease

Congenital Stiff Man Syndrome

Familial Startle Disease

Sthe

Stiff-Baby Syndrome

Hereditary Hyperexplexia

Startle Disease

Exaggerated Startle Reaction

Hyperexplexia Hereditary

Startle Disease, Familial

Startle Reaction, Exaggerated

Stiff-Man Syndrome, Congenital

Stiff-Person Syndrome, Congenital

Congenital Stiff-Man Syndrome

Congenital Stiff-Person Syndrome

Familial Hyperekplexia

Startle Syndrome

Stiff Baby Syndrome

Hyperekplexia, Hereditary

Stiff-Person Syndrome

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
Mus musculus SLC6A14 MGD MGI:1890216
Rattus norvegicus SLC6A14 RGD RGD:1561810
Bos taurus SLC6A14 VGNC VGNC:34917
Macaca mulatta SLC6A14 VGNC VGNC:77617
Canis familiaris SLC6A14 VGNC VGNC:46457