• Gene id: 54716

Gene Summary

• Gene Symbol: SLC6A20   Gene   UCSC   Ensembl
• Aliases: SIT1, XT3, Xtrp3
• Gene name: solute carrier family 6 member 20
• Alternate names: sodium- and chloride-dependent transporter XTRP3, X transporter protein 3, neurotransmitter transporter RB21A, orphan transporter XT3, sodium/imino-acid transporter 1, solute carrier family 6 (neurotransmitter transporter), member 20, solute carrier famil,
• Gene location: 3p21.31 (45796552: 45755448)     Exons: 12     NC_000003.12
• Gene summary(Entrez): Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several families of related genes. The protein encoded by this gene is a member of the subgroup of trans
• OMIM: 605616

Protein Summary

• Protein general information: Q9NP91  
  • Name: Sodium and chloride dependent transporter XTRP3 (Sodium/imino acid transporter 1) (Solute carrier family 6 member 20) (Transporter rB21A homolog)
  • Length: 592  
  • Mass: 65,914
• Sequence:

  MEKARPLWANSLQFVFACISYAVGLGNVWRFPYLCQMYGGGSFLVPYIIMLIVEGMPLLYLELAVGQRMRQGSIG
  AWRTISPYLSGVGVASVVVSFFLSMYYNVINAWAFWYLFHSFQDPLPWSVCPLNGNHTGYDEECEKASSTQYFWY
  RKTLNISPSLQENGGVQWEPALCLLLAWLVVYLCILRGTESTGKVVYFTASLPYCVLIIYLIRGLTLHGATNGLM
  YMFTPKIEQLANPKAWINAATQIFFSLGLGFGSLIAFASYNEPSNNCQKHAIIVSLINSFTSIFASIVTFSIYGF
  KATFNYENCLKKVSLLLTNTFDLEDGFLTASNLEQVKGYLASAYPSKYSEMFPQIKNCSLESELDTAVQGTGLAF
  IVYTEAIKNMEVSQLWSVLYFFMLLMLGIGSMLGNTAAILTPLTDSKIISSHLPKEAISGLVCLVNCAIGMVFTM
  EAGNYWFDIFNDYAATLSLLLIVLVETIAVCYVYGLRRFESDLKAMTGRAVSWYWKVMWAGVSPLLIVSLFVFYL
  SDYILTGTLKYQAWDASQGQLVTKDYPAYALAVIGLLVASSTMCIPLAALGTFVQRRLKRGDADPVA

• Structural information:
  • Interpro: IPR000175  IPR002438  IPR037272  
  • Prosite: PS00610 PS00754 PS50267
  • STRING: ENSP00000346298
• Other Databases: GeneCards:  SLC6A20  Malacards:  SLC6A20

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:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0006865	amino acid transport	IDA	biological process
GO:0006865	amino acid transport	TAS	biological process
GO:0015171	amino acid transmembrane transporter activity	IDA	molecular function
GO:0015171	amino acid transmembrane transporter activity	TAS	molecular function
GO:0015375	glycine:sodium symporter activity	IBA	molecular function
GO:0015816	glycine transport	IMP	biological process
GO:0015824	proline transport	IMP	biological process
GO:0016324	apical plasma membrane	ISS	cellular component
GO:0036233	glycine import	IBA	biological process
GO:0060012	synaptic transmission, glycinergic	IBA	biological process
GO:0003333	amino acid transmembrane transport	IEA	biological process
GO:0005328	neurotransmitter:sodium symporter activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0006810	transport	IEA	biological process
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0006865	amino acid transport	IEA	biological process
GO:0006865	amino acid transport	IDA	biological process
GO:0006865	amino acid transport	TAS	biological process
GO:0015171	amino acid transmembrane transporter activity	IDA	molecular function
GO:0015171	amino acid transmembrane transporter activity	TAS	molecular function
GO:0015293	symporter activity	IEA	molecular function
GO:0015375	glycine:sodium symporter activity	IBA	molecular function
GO:0015816	glycine transport	IMP	biological process
GO:0015824	proline transport	IMP	biological process
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:0016324	apical plasma membrane	ISS	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0036233	glycine import	IBA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0060012	synaptic transmission, glycinergic	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0006865	amino acid transport	IDA	biological process
GO:0006865	amino acid transport	TAS	biological process
GO:0015171	amino acid transmembrane transporter activity	IDA	molecular function
GO:0015171	amino acid transmembrane transporter activity	TAS	molecular function
GO:0015375	glycine:sodium symporter activity	IBA	molecular function
GO:0015816	glycine transport	IMP	biological process
GO:0015824	proline transport	IMP	biological process
GO:0016324	apical plasma membrane	ISS	cellular component
GO:0036233	glycine import	IBA	biological process
GO:0060012	synaptic transmission, glycinergic	IBA	biological process

Diseases

Associated diseases	References
Azoospermia	MIK: 17928628
Iminoglycinuria	OMIM: 605616
Hyperglycinuria	OMIM: 605616
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoospermia	MIK: 17928628
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17928628	Azoospermia				Male infertility	CRISP1 SPINLW1 FAM12B DEFB129 CFTR AQP5 KCNK4 KCNK17 SLC6A20 SLC13A3 DEFB126 and DEFB106A
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq