SLC7A14 - solute carrier family 7 member 14 Gene

Also Known as PPP1R142

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57709

About SLC7A14

Cytogenetic location: 3q26.2 Genomic coordinates (GRCh38): 3:170,459,548-170,586,075 (from NCBI)

This gene has 2 transcripts (splice variants), 217 orthologues, 12 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 21.6) and adrenal (RPKM 2.0).

Summary

This gene is predicted to encode a glycosylated, cationic Amino acid Transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissue, and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic Amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. In mice, this gene is expressed in the photoreceptor layer of the retina where its expression increases over the course of retinal development and persists in the mature retina. [provided by RefSeq, Apr 2014]

SLC7A14 Products (1)

mRNA Protein Name
NM_020949.3 NP_066000.2 probable cationic amino acid transporter

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 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

SLC7A14 Protein Structure

AA_permease_2

AA_permease_2: Amino acid permease (53 - 434)

AA_permease_C

AA_permease_C: C-terminus of AA_permease (627 - 677)

  • 0
  • 200
  • 400
  • 600
  • 771 a.a.
Protein Preferred Names Protein Names

probable cationic amino acid transporter

  • protein phosphatase 1, regulatory subunit 142

SLC7A14 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SLC7A14 Q8TBB6 IL10RA Homo sapiens Q13651
Y2H Prey Pooling
32296183
Intra
SLC7A14 Q8TBB6 IL10RA Homo sapiens Q13651
Y2H Array
32296183
Intra
SLC7A14 Q8TBB6 NINJ2 Homo sapiens Q9NZG7
Validated Y2H
32296183
Intra
SLC7A14 Q8TBB6 ADGRE2 Homo sapiens Q9UHX3
Validated Y2H
32296183
Intra
SLC7A14 Q8TBB6 CMTM5 Homo sapiens Q96DZ9-2
Validated Y2H
32296183
Intra
SLC7A14 Q8TBB6 MFF Homo sapiens Q9GZY8-5
Validated Y2H
32296183
Intra
SLC7A14 Q8TBB6 AIG1 Homo sapiens Q9NVV5-2
Validated Y2H
32296183
Intra
SLC7A14 Q8TBB6 DCBLD2 Homo sapiens Q96PD2-2
Validated Y2H
32296183
Intra
SLC7A14 Q8TBB6 TREX1 Homo sapiens Q9NSU2-1
Validated Y2H
32296183
Intra
SLC7A14 Q8TBB6 FAM209A Homo sapiens Q5JX71
Y2H Prey Pooling
32296183
Intra
SLC7A14 Q8TBB6 FAM209A Homo sapiens Q5JX71
Y2H Array
32296183
Intra
SLC7A14 Q8TBB6 UBIAD1 Homo sapiens Q9Y5Z9
Validated Y2H
32296183
Intra
SLC7A14 Q8TBB6 ACSL5 Homo sapiens Q9ULC5
Validated Y2H
32296183
Intra
SLC7A14 Q8TBB6 TECR Homo sapiens Q9NZ01
Validated Y2H
32296183
Intra
SLC7A14 Q8TBB6 FKBP7 Homo sapiens Q9Y680
Y2H Prey Pooling
32296183
Intra
SLC7A14 Q8TBB6 FKBP7 Homo sapiens Q9Y680
Validated Y2H
32296183
Intra
SLC7A14 Q8TBB6 FKBP7 Homo sapiens Q9Y680
Y2H Array
32296183
Intra
SLC7A14 Q8TBB6 DERL1 Homo sapiens Q9BUN8
Validated Y2H
32296183
Intra
SLC7A14 Q8TBB6 MMGT1 Homo sapiens Q8N4V1
Y2H Array
32296183
Intra
SLC7A14 Q8TBB6 MMGT1 Homo sapiens Q8N4V1
Y2H Prey Pooling
32296183
Intra
SLC7A14 Q8TBB6 VKORC1 Homo sapiens Q9BQB6
Validated Y2H
32296183
Intra
SLC7A14 Q8TBB6 FATE1 Homo sapiens Q969F0
Y2H Prey Pooling
32296183
Intra
SLC7A14 Q8TBB6 FATE1 Homo sapiens Q969F0
Validated Y2H
32296183
Intra
SLC7A14 Q8TBB6 FATE1 Homo sapiens Q969F0
Y2H Array
32296183
Intra
SLC7A14 Q8TBB6 YIPF6 Homo sapiens Q96EC8
Validated Y2H
32296183
Intra
SLC7A14 Q8TBB6 YIPF6 Homo sapiens Q96EC8
Anti Tag CoIP
33961781
Intra
SLC7A14 Q8TBB6 YIPF4 Homo sapiens Q9BSR8
Validated Y2H
32296183
Intra
SLC7A14 Q8TBB6 SMCO4 Homo sapiens Q9NRQ5
Validated Y2H
32296183
Intra
SLC7A14 Q8TBB6 CCDC167 Homo sapiens Q9P0B6
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Retinitis Pigmentosa 68

  • RP68

  • Retinitis Pigmentosa, Type 68
Retinitis Pigmentosa

  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1
Developmental And Epileptic Encephalopathy 3

  • Epileptic Encephalopathy, Early Infantile, 3

  • DEE3

  • Eiee3

  • Early Myoclonic Encephalopathy

  • Developmental And Epileptic Encephalopathy, 3

  • Early Infantile Epileptic Encephalopathy 3

  • Eme

  • Neonatal Epilepsy With Suppression-Burst Pattern

  • Encephalopathy, Epileptic, Early Infantile, Type 3
Retinitis Pigmentosa 42

  • RP42

  • Retinitis Pigmentosa-42

  • Retinitis Pigmentosa, Type 42
Cystinuria

  • CSNU

  • Cystinuria Type B

  • Cystinuria Type A

  • Cystinuria, Type I, Formerly

  • Csnu1, Formerly

  • Cystinuria, Type Ii, Formerly

  • Cystinuria, Type Iii, Formerly

  • Csnu3, Formerly

  • Cystinuria, Type Non-I, Formerly

  • Cystinuria-Lysinuria

  • Cystinuria-Lysinuria Syndrome

  • Csnu1

  • Csnu3

  • Cystinuria 1

  • Cystinuria Type A/B

  • Cystinuria Type I

  • Cystinuria Type Ii

  • Cystinuria Type Iii

  • Cystinuria Type Non-I

  • Cystinuria, Type A/B

  • Cystinuria Type 1

  • Cystinuria - Lysinuria

  • Csnu - [Cystinuria]

  • Cystine Disease
Iminoglycinuria

  • Iminoglycinuria, Digenic

  • IG
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
Fundus Dystrophy

  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal
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-RS13327 SLC7A14 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta SLC7A14 VGNC VGNC:77791
Felis catus SLC7A14 VGNC VGNC:65424
Rattus norvegicus SLC7A14 RGD RGD:1594375
Mus musculus SLC7A14 MGD MGI:3040688
Canis familiaris SLC7A14 VGNC VGNC:46473
Bos taurus SLC7A14 VGNC VGNC:34927
Others SLC7A14 NCBI