2. Gene
  3. SLC7A14 - solute carrier family 7 member 14 Gene

SLC7A14 - solute carrier family 7 member 14 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as PPP1R142

Gene ID: 57709 | Gene type: protein coding

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 Reference 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 Reference
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS13327 SLC7A14 Human Pre-designed siRNA Set A Pre-designed Sets / 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