SLC6A20 - solute carrier family 6 member 20 Gene

Also Known as XT3; SIT1; IMINO; Xtrp3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 54716

About SLC6A20

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:45,755,449-45,796,536 (from NCBI)

This gene has 8 transcripts (splice variants), 209 orthologues, 19 paralogues and is associated with 3 phenotypes. Biased expression in duodenum (RPKM 11.0), small intestine (RPKM 8.2) and 4 other tissues.

Summary

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 belongs to the sodium:neurotransmitter symporter (SNF) family and functions as a proline transporter expressed in kidney and small intestine. Mutations in this gene are associated with Hyperglycinuria and Iminoglycinuria. [provided by RefSeq, Jul 2020]

SLC6A20 Products (6)

mRNA Protein Name
NM_001385683.1 NP_001372612.1 sodium- and chloride-dependent transporter XTRP3 isoform 3
NM_001406066.1 NP_001392995.1 sodium- and chloride-dependent transporter XTRP3 isoform 4
NM_001406067.1 NP_001392996.1 sodium- and chloride-dependent transporter XTRP3 isoform 5
NM_001406069.1 NP_001392998.1 sodium- and chloride-dependent transporter XTRP3 isoform 6
NM_020208.4 NP_064593.1 sodium- and chloride-dependent transporter XTRP3 isoform 1
NM_022405.4 NP_071800.1 sodium- and chloride-dependent transporter XTRP3 isoform 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables L-proline transmembrane transporter activity IDA
IDA: Inferred from direct assay
15632147 GOA
enables L-proline transmembrane transporter activity IGI
IGI: Inferred from genetic interaction
25534429 GOA
enables amino acid transmembrane transporter activity IDA
IDA: Inferred from direct assay
15632147 GOA
enables neutral L-amino acid transmembrane transporter activity IMP
IMP: Inferred from mutant phenotype
19033659 GOA
enables proline:sodium symporter activity IDA
IDA: Inferred from direct assay
33428810 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
enables solute:sodium symporter activity IDA
IDA: Inferred from direct assay
33428810 GOA
Biological Process GO Annotation Evidence References Source
involved in L-proline import across plasma membrane IDA
IDA: Inferred from direct assay
15632147 GOA
involved in L-proline import across plasma membrane IGI
IGI: Inferred from genetic interaction
25534429 GOA
involved in amino acid transport IDA
IDA: Inferred from direct assay
15632147 GOA
involved in glycine import across plasma membrane IDA
IDA: Inferred from direct assay
33428810 GOA
involved in glycine transport IMP
IMP: Inferred from mutant phenotype
19033659 GOA
involved in proline import across plasma membrane IMP
IMP: Inferred from mutant phenotype
19033659 GOA
involved in proline transport IMP
IMP: Inferred from mutant phenotype
19033659 GOA
Cellular Component GO Annotation Evidence References Source
located in apical plasma membrane IDA
IDA: Inferred from direct assay
25534429 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

SLC6A20 Protein Structure

SNF

SNF: Sodium:neurotransmitter symporter family (5 - 579)

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

sodium- and chloride-dependent transporter XTRP3

  • X transporter protein 3

SLC6A20 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SLC6A20 Q9NP91 KRTAP10-8 Homo sapiens P60410
Y2H Prey Pooling
32296183
Intra
SLC6A20 Q9NP91 KRTAP10-8 Homo sapiens P60410
Y2H Array
25416956
Intra
SLC6A20 Q9NP91 KRTAP10-8 Homo sapiens P60410
Y2H Array
32296183
Intra
SLC6A20 Q9NP91 KRTAP10-9 Homo sapiens P60411
Y2H Prey Pooling
25416956
Intra
SLC6A20 Q9NP91 KRTAP10-9 Homo sapiens P60411
Y2H Array
25416956
Intra
SLC6A20 Q9NP91 KRTAP10-5 Homo sapiens P60370
Y2H Prey Pooling
25416956
Intra
SLC6A20 Q9NP91 KRTAP10-5 Homo sapiens P60370
Y2H Array
25416956
Intra
SLC6A20 Q9NP91 KRTAP10-7 Homo sapiens P60409
Y2H Array
25416956
Intra
SLC6A20 Q9NP91 ADAMTSL4 Homo sapiens Q6UY14-3
Y2H Prey Pooling
25416956
Intra
SLC6A20 Q9NP91 KRTAP1-1 Homo sapiens Q07627
Y2H Prey Pooling
32296183
Intra
SLC6A20 Q9NP91 KRTAP1-1 Homo sapiens Q07627
Y2H Array
32296183
Intra
SLC6A20 Q9NP91 NOTCH2NLC Homo sapiens P0DPK4
Y2H Array
32296183
Intra
SLC6A20 Q9NP91 NOTCH2NLC Homo sapiens P0DPK4
Y2H Prey Pooling
32296183
Intra
SLC6A20 Q9NP91 CYSRT1 Homo sapiens A8MQ03
Y2H Array
32296183
Intra
SLC6A20 Q9NP91 CYSRT1 Homo sapiens A8MQ03
Y2H Prey Pooling
32296183
Intra
SLC6A20 Q9NP91 NOTCH2NLA Homo sapiens Q7Z3S9
Validated Y2H
25416956
Intra
SLC6A20 Q9NP91 NOTCH2NLA Homo sapiens Q7Z3S9
Y2H Prey Pooling
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Iminoglycinuria

  • Iminoglycinuria, Digenic

  • IG
Hyperglycinuria

  • Glycinuria With Or Without Oxalate Urolithiasis

  • Glycinuria With Or Without Oxalate Nephrolithiasis

  • Iminoglycinuria Type Ii

  • HG
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
Smallpox

  • Variola

  • Ordinary Smallpox

  • Alastrim

  • Amaas
Digenic Disease
Combined Cellular And Humoral Immune Defects With Granulomas

  • Combined Immunodeficiency With Skin Granulomas

  • CCHIDG

  • Cid Due To Rag 1/2 Deficiency

  • Combined Immunodeficiency Due To Rag 1/2 Deficiency

  • Combined Immunodeficiency With Granulomatosis

  • CHIDG

  • Immune Defects, Combined Cellular And Humoral With Granulomas
Septicemic Plague

  • Plague, Septicemic
Cataract 44

  • CTRCT44

  • Total Early-Onset Cataract

  • Cataract 44 And Hypotrichosis

  • Cataract And Hypotrichosis

  • Cataract, Type 44
Bardet-Biedl Syndrome 1

  • BBS1

  • Bardet-Biedl Syndrome 1, Modifier Of

  • Bardet-Biedl Syndrome

  • BBS

  • Bardet-Biedl Syndrome, Type 1

  • Laurence-Moon-Bardet-Biedl Syndrome
Amyotrophic Lateral Sclerosis 1

  • Amyotrophic Lateral Sclerosis

  • ALS

  • Lou Gehrig Disease

  • Amyotrophic Lateral Sclerosis Type 1

  • Charcot Disease

  • ALS1

  • Amyotrophic Lateral Sclerosis, Susceptibility To

  • Fals

  • Lou Gehrig'S Disease

  • Mnd

  • Motor Neuron Disease

  • Familial Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis 1, Familial

  • Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

  • Motor Neuron Disease, Bulbar

  • Motor Neurone Disease

  • Amyotrophic Lateral Sclerosis With Dementia

  • Dementia With Amyotrophic Lateral Sclerosis

  • Motor Neuron Disease, Amyotrophic Lateral Sclerosis

  • Sclerosis, Lateral, Amyotrophic

  • Sclerosis, Lateral, Amyotrophic, Type 1

  • Amyotrophic Sclerosis

  • Als - [Amyotrophic Lateral Sclerosis]

  • Wasting Palsy

  • Amyotrophic Paralysis

  • Amyotrophy Lateral Sclerosis

  • Wasting Paralysis

  • Spinal Progressive Amyotrophy

  • Progressive Atrophic Paralysis
Leber Plus Disease

  • Leber Congenital Amaurosis

  • Lca

  • Leber'S Amaurosis

  • Leber'S Disease

  • Amaurosis Congenita Of Leber

  • Amaurosis Congenita Of Leber, Type 1

  • Lhon Plus Disease

  • Congenital Absence Of The Rods And Cones

  • Congenital Retinal Blindness

  • Crb

  • Congenital Amaurosis Of Retinal Origin

  • Leber'S Congenital Amaurosis

  • Leber Congenital Amaurosis 1

  • Leber'S Congenital Tapetoretinal Degeneration

  • Leber'S Congenital Tapetoretinal Dysplasia

  • Lca1

  • Leber Congenital Amaurosis Type 1

  • Retinal Blindness, Congenital

  • Amaurosis, Leber Congenital

  • Dysgenesis Neuroepithelialis Retinae

  • Hereditary Epithelial Dysplasia Of Retina

  • Hereditary Retinal Aplasia

  • Heredoretinopathia Congenitalis

  • Leber Abiotrophy

  • Leber Congenital Tapetoretinal Degeneration

  • Lebers Congenital Amaurosis

  • Optic Atrophy, Hereditary, Leber
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS13307 SLC6A20 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus SLC6A20 VGNC VGNC:65414
Rattus norvegicus SLC6A20 RGD RGD:621651
Bos taurus SLC6A20 VGNC VGNC:34921
Canis familiaris SLC6A20 VGNC VGNC:46463
Macaca mulatta SLC6A20 VGNC VGNC:77804
Others SLC6A20 NCBI