SLC6A14 - solute carrier family 6 member 14 Gene

Also Known as BMIQ11

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 11254

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+)
Molecular Function GO Annotation Evidence References 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 References 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
Others SLC6A14 NCBI