Seroatlas · Human Serome Atlas

SLC7A14

Solute carrier family 7 member 14

Also known as: KIAA1613, PPP1R142, S7A14_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8TBB6
Gene: SLC7A14
Ensembl: ENSG00000013293
Chromosome: 3
Canonical length: 771 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location: Nucleoplasm,Vesicles,Plasma membrane,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

771 residues, UniProt reviewed canonical sequence.

>Q8TBB6|SLC7A14
     1  MSGFFTSLDP RRVQWGAAWY AMHSRILRTK PVESMLEGTG TTTAHGTKLA QVLTTVDLIS
    61  LGVGSCVGTG MYVVSGLVAK EMAGPGVIVS FIIAAVASIL SGVCYAEFGV RVPKTTGSAY
   121  TYSYVTVGEF VAFFIGWNLI LEYLIGTAAG ASALSSMFDS LANHTISRWM ADSVGTLNGL
   181  GKGEESYPDL LALLIAVIVT IIVALGVKNS IGFNNVLNVL NLAVWVFIMI AGLFFINGKY
   241  WAEGQFLPHG WSGVLQGAAT CFYAFIGFDI IATTGEEAKN PNTSIPYAIT ASLVICLTAY
   301  VSVSVILTLM VPYYTIDTES PLMEMFVAHG FYAAKFVVAI GSVAGLTVSL LGSLFPMPRV
   361  IYAMAGDGLL FRFLAHVSSY TETPVVACIV SGFLAALLAL LVSLRDLIEM MSIGTLLAYT
   421  LVSVCVLLLR YQPESDIDGF VKFLSEEHTK KKEGILADCE KEACSPVSEG DEFSGPATNT
   481  CGAKNLPSLG DNEMLIGKSD KSTYNVNHPN YGTVDMTTGI EADESENIYL IKLKKLIGPH
   541  YYTMRIRLGL PGKMDRPTAA TGHTVTICVL LLFILMFIFC SFIIFGSDYI SEQSWWAILL
   601  VVLMVLLIST LVFVILQQPE NPKKLPYMAP CLPFVPAFAM LVNIYLMLKL STITWIRFAV
   661  WCFVGLLIYF GYGIWNSTLE ISAREEALHQ STYQRYDVDD PFSVEEGFSY ATEGESQEDW
   721  GGPTEDKGFY YQQMSDAKAN GRTSSKAKSK SKHKQNSEAL IANDELDYSP E

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC7A14 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 15
Mean surface accessibility (rSASA): 0.33
Highest tissue expression: 15 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 15 nTPM
cerebellum: 9.6 nTPM
hypothalamus: 8.8 nTPM
spinal cord: 7.3 nTPM
pituitary gland: 6.7 nTPM
basal ganglia: 6.1 nTPM

Single-cell type

gonadotrophs: 408 nCPM
thyrotrophs: 135 nCPM
oligodendrocytes: 104 nCPM
other brain neurons: 102 nCPM
brain excitatory neurons: 102 nCPM
brain inhibitory neurons: 82 nCPM

Immune cell

basophil: 0.2 nTPM
naive B-cell: 0.1 nTPM
neutrophil: 0.1 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM

Brain region

hypothalamus: 51 nTPM
medulla oblongata: 50 nTPM
pons: 49 nTPM
basal ganglia: 36 nTPM
cerebral cortex: 35 nTPM
hippocampal formation: 33 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC7A14.

Disease | AllUniProt

Conditions SLC7A14 is implicated in, by any mechanism.

Retinitis pigmentosa 68 (RP68) MIM:615725

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 610 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Retinitis pigmentosa 68
Retinal dystrophy

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.54
gnomAD pLI: 0.02
gnomAD missense Z: 0.78
DepMap mean gene effect: 0.02
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SLC7A14 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

YIPF6

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLC7A14 as an antibody target. Whether an autoantibody or antibody against SLC7A14 could matter depends on whether native SLC7A14 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC7A14 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SLC7A14 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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