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Protein

Probable cationic amino acid transporter

Gene

SLC7A14

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

May be involved in arginine transport.2 Publications

GO - Molecular functioni

GO - Biological processi

  • amino acid transport Source: UniProtKB-KW
  • negative regulation of phosphatase activity Source: UniProtKB

Keywordsi

Biological processAmino-acid transport, Transport

Protein family/group databases

TCDBi2.A.3.3.7 the amino acid-polyamine-organocation (apc) family

Names & Taxonomyi

Protein namesi
Recommended name:
Probable cationic amino acid transporter
Alternative name(s):
Solute carrier family 7 member 14
Gene namesi
Name:SLC7A14
Synonyms:KIAA1613
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000013293.5
HGNCiHGNC:29326 SLC7A14
MIMi615720 gene
neXtProtiNX_Q8TBB6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei58 – 78HelicalSequence analysisAdd BLAST21
Transmembranei83 – 103HelicalSequence analysisAdd BLAST21
Transmembranei119 – 141HelicalSequence analysisAdd BLAST23
Transmembranei187 – 207HelicalSequence analysisAdd BLAST21
Transmembranei216 – 236HelicalSequence analysisAdd BLAST21
Transmembranei251 – 271HelicalSequence analysisAdd BLAST21
Transmembranei291 – 311HelicalSequence analysisAdd BLAST21
Transmembranei336 – 356HelicalSequence analysisAdd BLAST21
Transmembranei360 – 380HelicalSequence analysisAdd BLAST21
Transmembranei384 – 404HelicalSequence analysisAdd BLAST21
Transmembranei407 – 427HelicalSequence analysisAdd BLAST21
Transmembranei565 – 585HelicalSequence analysisAdd BLAST21
Transmembranei596 – 616HelicalSequence analysisAdd BLAST21
Transmembranei628 – 648HelicalSequence analysisAdd BLAST21
Transmembranei655 – 675HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Lysosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 68 (RP68)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
See also OMIM:615725
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071050132A → V in RP68. 1 PublicationCorresponds to variant dbSNP:rs587777273EnsemblClinVar.1
Natural variantiVAR_071051209N → S in RP68; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs765054383Ensembl.1
Natural variantiVAR_071052323M → I in RP68; uncertain pathological significance. 1 Publication1
Natural variantiVAR_035417330G → R in RP68; affects subcellular location. 1 PublicationCorresponds to variant dbSNP:rs2276717EnsemblClinVar.1
Natural variantiVAR_071053391S → L in RP68; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs375705180Ensembl.1
Natural variantiVAR_071054464C → F in RP68. 1 PublicationCorresponds to variant dbSNP:rs79668755EnsemblClinVar.1
Natural variantiVAR_071055695R → C in RP68; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs181011740Ensembl.1
Natural variantiVAR_071056708F → V in RP68. 1 PublicationCorresponds to variant dbSNP:rs587777272EnsemblClinVar.1

Keywords - Diseasei

Retinitis pigmentosa

Organism-specific databases

DisGeNETi57709
MalaCardsiSLC7A14
MIMi615725 phenotype
OpenTargetsiENSG00000013293
Orphaneti791 Retinitis pigmentosa
PharmGKBiPA142670913

Polymorphism and mutation databases

BioMutaiSLC7A14
DMDMi296452968

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003073601 – 771Probable cationic amino acid transporterAdd BLAST771

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi282N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei465PhosphoserineBy similarity1
Modified residuei468PhosphoserineBy similarity1
Modified residuei488PhosphoserineBy similarity1
Glycosylationi676N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei757PhosphoserineBy similarity1
Modified residuei769PhosphoserineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ8TBB6
PeptideAtlasiQ8TBB6
PRIDEiQ8TBB6
ProteomicsDBi73987

PTM databases

iPTMnetiQ8TBB6
PhosphoSitePlusiQ8TBB6

Expressioni

Tissue specificityi

Expressed in skin fibroblasts.1 Publication

Gene expression databases

BgeeiENSG00000013293 Expressed in 99 organ(s), highest expression level in cerebellar vermis
CleanExiHS_SLC7A14
GenevisibleiQ8TBB6 HS

Organism-specific databases

HPAiHPA045929

Interactioni

Protein-protein interaction databases

BioGridi121733, 27 interactors
IntActiQ8TBB6, 38 interactors
STRINGi9606.ENSP00000231706

Structurei

3D structure databases

ProteinModelPortaliQ8TBB6
SMRiQ8TBB6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1286 Eukaryota
COG0531 LUCA
GeneTreeiENSGT00760000119151
HOGENOMiHOG000250623
HOVERGENiHBG000280
InParanoidiQ8TBB6
KOiK13871
OMAiHTISRWM
OrthoDBiEOG091G05NM
PhylomeDBiQ8TBB6
TreeFamiTF315212

Family and domain databases

InterProiView protein in InterPro
IPR002293 AA/rel_permease1
IPR029485 CAT_C
PfamiView protein in Pfam
PF13520 AA_permease_2, 1 hit
PF13906 AA_permease_C, 1 hit

Sequencei

Sequence statusi: Complete.

Q8TBB6-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSGFFTSLDP RRVQWGAAWY AMHSRILRTK PVESMLEGTG TTTAHGTKLA
60 70 80 90 100
QVLTTVDLIS LGVGSCVGTG MYVVSGLVAK EMAGPGVIVS FIIAAVASIL
110 120 130 140 150
SGVCYAEFGV RVPKTTGSAY TYSYVTVGEF VAFFIGWNLI LEYLIGTAAG
160 170 180 190 200
ASALSSMFDS LANHTISRWM ADSVGTLNGL GKGEESYPDL LALLIAVIVT
210 220 230 240 250
IIVALGVKNS IGFNNVLNVL NLAVWVFIMI AGLFFINGKY WAEGQFLPHG
260 270 280 290 300
WSGVLQGAAT CFYAFIGFDI IATTGEEAKN PNTSIPYAIT ASLVICLTAY
310 320 330 340 350
VSVSVILTLM VPYYTIDTES PLMEMFVAHG FYAAKFVVAI GSVAGLTVSL
360 370 380 390 400
LGSLFPMPRV IYAMAGDGLL FRFLAHVSSY TETPVVACIV SGFLAALLAL
410 420 430 440 450
LVSLRDLIEM MSIGTLLAYT LVSVCVLLLR YQPESDIDGF VKFLSEEHTK
460 470 480 490 500
KKEGILADCE KEACSPVSEG DEFSGPATNT CGAKNLPSLG DNEMLIGKSD
510 520 530 540 550
KSTYNVNHPN YGTVDMTTGI EADESENIYL IKLKKLIGPH YYTMRIRLGL
560 570 580 590 600
PGKMDRPTAA TGHTVTICVL LLFILMFIFC SFIIFGSDYI SEQSWWAILL
610 620 630 640 650
VVLMVLLIST LVFVILQQPE NPKKLPYMAP CLPFVPAFAM LVNIYLMLKL
660 670 680 690 700
STITWIRFAV WCFVGLLIYF GYGIWNSTLE ISAREEALHQ STYQRYDVDD
710 720 730 740 750
PFSVEEGFSY ATEGESQEDW GGPTEDKGFY YQQMSDAKAN GRTSSKAKSK
760 770
SKHKQNSEAL IANDELDYSP E
Length:771
Mass (Da):84,052
Last modified:May 18, 2010 - v3
Checksum:i55F490AE219B3342
GO

Sequence cautioni

The sequence BAB13439 differs from that shown. Reason: Erroneous termination at position 765. Translated as Glu.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti498K → R in BAG53645 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071050132A → V in RP68. 1 PublicationCorresponds to variant dbSNP:rs587777273EnsemblClinVar.1
Natural variantiVAR_071051209N → S in RP68; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs765054383Ensembl.1
Natural variantiVAR_071052323M → I in RP68; uncertain pathological significance. 1 Publication1
Natural variantiVAR_035417330G → R in RP68; affects subcellular location. 1 PublicationCorresponds to variant dbSNP:rs2276717EnsemblClinVar.1
Natural variantiVAR_071053391S → L in RP68; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs375705180Ensembl.1
Natural variantiVAR_071054464C → F in RP68. 1 PublicationCorresponds to variant dbSNP:rs79668755EnsemblClinVar.1
Natural variantiVAR_071055695R → C in RP68; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs181011740Ensembl.1
Natural variantiVAR_071056708F → V in RP68. 1 PublicationCorresponds to variant dbSNP:rs587777272EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK122655 mRNA Translation: BAG53645.1
AC008041 Genomic DNA No translation available.
BC022968 mRNA Translation: AAH22968.2
AB046833 mRNA Translation: BAB13439.1 Sequence problems.
CCDSiCCDS33892.1
RefSeqiNP_066000.2, NM_020949.2
UniGeneiHs.596660

Genome annotation databases

EnsembliENST00000231706; ENSP00000231706; ENSG00000013293
GeneIDi57709
KEGGihsa:57709
UCSCiuc003fgz.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiS7A14_HUMAN
AccessioniPrimary (citable) accession number: Q8TBB6
Secondary accession number(s): B3KV33, Q9HCF9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: May 18, 2010
Last modified: September 12, 2018
This is version 124 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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