• Gene id: 11254

Gene Summary

• Gene Symbol: SLC6A14   Gene   UCSC   Ensembl
• Aliases: BMIQ11
• Gene name: solute carrier family 6 member 14
• Alternate names: sodium- and chloride-dependent neutral and basic amino acid transporter B(0+), amino acid transporter ATB0+, amino acid transporter B0+, solute carrier family 6 (amino acid transporter), member 14, solute carrier family 6 (neurotransmitter transporter), m,
• Gene location: Xq23 (116436578: 116461457)     Exons: 14     NC_000023.11
• Gene summary(Entrez): 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 be
• OMIM: 300444

Protein Summary

• Protein general information: Q9UN76  
  • Name: Sodium and chloride dependent neutral and basic amino acid transporter B(0+) (Amino acid transporter ATB0+) (Solute carrier family 6 member 14)
  • Length: 642  
  • Mass: 72,153
• Sequence:

  MDKLKCPSFFKCREKEKVSASSENFHVGENDENQDRGNWSKKSDYLLSMIGYAVGLGNVWRFPYLTYSNGGGAFL
  IPYAIMLALAGLPLFFLECSLGQFASLGPVSVWRILPLFQGVGITMVLISIFVTIYYNVIIAYSLYYMFASFQSE
  LPWKNCSSWSDKNCSRSPIVTHCNVSTVNKGIQEIIQMNKSWVDINNFTCINGSEIYQPGQLPSEQYWNKVALQR
  SSGMNETGVIVWYLALCLLLAWLIVGAALFKGIKSSGKVVYFTALFPYVVLLILLVRGATLEGASKGISYYIGAQ
  SNFTKLKEAEVWKDAATQIFYSLSVAWGGLVALSSYNKFKNNCFSDAIVVCLTNCLTSVFAGFAIFSILGHMAHI
  SGKEVSQVVKSGFDLAFIAYPEALAQLPGGPFWSILFFFMLLTLGLDSQFASIETITTTIQDLFPKVMKKMRVPI
  TLGCCLVLFLLGLVCVTQAGIYWVHLIDHFCAGWGILIAAILELVGIIWIYGGNRFIEDTEMMIGAKRWIFWLWW
  RACWFVITPILLIAIFIWSLVQFHRPNYGAIPYPDWGVALGWCMIVFCIIWIPIMAIIKIIQAKGNIFQRLISCC
  RPASNWGPYLEQHRGERYKDMVDPKKEADHEIPTVSGSRKPE

• Structural information:
  • Interpro: IPR000175  IPR037272  
  • Prosite: PS00610 PS00754 PS50267
  • STRING: ENSP00000360967
• Other Databases: GeneCards:  SLC6A14  Malacards:  SLC6A14

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003333	amino acid transmembrane transport	IEA	biological process
GO:0005328	neurotransmitter:sodium symporter activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0006520	cellular amino acid metabolic process	TAS	biological process
GO:0006810	transport	TAS	biological process
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0006865	amino acid transport	TAS	biological process
GO:0009636	response to toxic substance	IDA	biological process
GO:0015171	amino acid transmembrane transporter activity	TAS	molecular function
GO:0016021	integral component of membrane	TAS	cellular component
GO:0031526	brush border membrane	IEA	cellular component
GO:0031982	vesicle	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0003333	amino acid transmembrane transport	IEA	biological process
GO:0005328	neurotransmitter:sodium symporter activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0006520	cellular amino acid metabolic process	TAS	biological process
GO:0006810	transport	IEA	biological process
GO:0006810	transport	TAS	biological process
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0006865	amino acid transport	IEA	biological process
GO:0006865	amino acid transport	TAS	biological process
GO:0009636	response to toxic substance	IDA	biological process
GO:0015171	amino acid transmembrane transporter activity	TAS	molecular function
GO:0015171	amino acid transmembrane transporter activity	TAS	molecular function
GO:0015293	symporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0031526	brush border membrane	IEA	cellular component
GO:0031982	vesicle	IDA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0006520	cellular amino acid metabolic process	TAS	biological process
GO:0006810	transport	TAS	biological process
GO:0006865	amino acid transport	TAS	biological process
GO:0009636	response to toxic substance	IDA	biological process
GO:0015171	amino acid transmembrane transporter activity	TAS	molecular function
GO:0015171	amino acid transmembrane transporter activity	TAS	molecular function
GO:0016021	integral component of membrane	TAS	cellular component
GO:0031982	vesicle	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component

Diseases

Associated diseases	References
Obesity	GAD: 14660752
Autism	GAD: 19058789
Infertility	MIK: 27172637
Male factor infertility	MIK: 27172637
Idiopathic infertility	MIK: 27172637
Male infertility	MIK: 27172637
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
27172637	Male infertility	T132903C in INSR, C109869T in SLC6A14, T824C in OR2W3, T886C in TAS2R38	Persian (Irani an)	196 (96 idiopathic infertile male patients, 100 normal fertile men (controls))	Male infertility	INSR SLC6A14 OR2W3 TAS2R38
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)