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Protein

Probable cationic amino acid transporter

Gene

SLC7A14

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

May be involved in arginine transport.2 Publications

GO - Molecular functioni

GO - Biological processi

  • negative regulation of phosphatase activity Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Amino-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

HGNCiHGNC:29326. SLC7A14.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei58 – 7821HelicalSequence analysisAdd
BLAST
Transmembranei83 – 10321HelicalSequence analysisAdd
BLAST
Transmembranei119 – 14123HelicalSequence analysisAdd
BLAST
Transmembranei187 – 20721HelicalSequence analysisAdd
BLAST
Transmembranei216 – 23621HelicalSequence analysisAdd
BLAST
Transmembranei251 – 27121HelicalSequence analysisAdd
BLAST
Transmembranei291 – 31121HelicalSequence analysisAdd
BLAST
Transmembranei336 – 35621HelicalSequence analysisAdd
BLAST
Transmembranei360 – 38021HelicalSequence analysisAdd
BLAST
Transmembranei384 – 40421HelicalSequence analysisAdd
BLAST
Transmembranei407 – 42721HelicalSequence analysisAdd
BLAST
Transmembranei565 – 58521HelicalSequence analysisAdd
BLAST
Transmembranei596 – 61621HelicalSequence analysisAdd
BLAST
Transmembranei628 – 64821HelicalSequence analysisAdd
BLAST
Transmembranei655 – 67521HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti132 – 1321A → V in RP68. 1 Publication
Corresponds to variant rs587777273 [ dbSNP | Ensembl ].
VAR_071050
Natural varianti209 – 2091N → S in RP68; uncertain pathological significance. 1 Publication
Corresponds to variant rs765054383 [ dbSNP | Ensembl ].
VAR_071051
Natural varianti323 – 3231M → I in RP68; uncertain pathological significance. 1 Publication
VAR_071052
Natural varianti330 – 3301G → R in RP68; affects subcellular location. 1 Publication
Corresponds to variant rs2276717 [ dbSNP | Ensembl ].
VAR_035417
Natural varianti391 – 3911S → L in RP68; uncertain pathological significance. 1 Publication
Corresponds to variant rs375705180 [ dbSNP | Ensembl ].
VAR_071053
Natural varianti464 – 4641C → F in RP68. 1 Publication
Corresponds to variant rs79668755 [ dbSNP | Ensembl ].
VAR_071054
Natural varianti695 – 6951R → C in RP68; uncertain pathological significance. 1 Publication
Corresponds to variant rs181011740 [ dbSNP | Ensembl ].
VAR_071055
Natural varianti708 – 7081F → V in RP68. 1 Publication
Corresponds to variant rs587777272 [ dbSNP | Ensembl ].
VAR_071056

Keywords - Diseasei

Retinitis pigmentosa

Organism-specific databases

MalaCardsiSLC7A14.
MIMi615725. phenotype.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA142670913.

Polymorphism and mutation databases

BioMutaiSLC7A14.
DMDMi296452968.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 771771Probable cationic amino acid transporterPRO_0000307360Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi282 – 2821N-linked (GlcNAc...)Sequence analysis
Modified residuei465 – 4651PhosphoserineBy similarity
Modified residuei468 – 4681PhosphoserineBy similarity
Modified residuei488 – 4881PhosphoserineBy similarity
Glycosylationi676 – 6761N-linked (GlcNAc...)Sequence analysis
Modified residuei757 – 7571PhosphoserineBy similarity
Modified residuei769 – 7691PhosphoserineBy similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ8TBB6.
PeptideAtlasiQ8TBB6.
PRIDEiQ8TBB6.

PTM databases

iPTMnetiQ8TBB6.
PhosphoSiteiQ8TBB6.

Expressioni

Tissue specificityi

Expressed in skin fibroblasts.1 Publication

Gene expression databases

BgeeiENSG00000013293.
CleanExiHS_SLC7A14.
GenevisibleiQ8TBB6. HS.

Organism-specific databases

HPAiHPA045929.

Interactioni

Protein-protein interaction databases

BioGridi121733. 1 interaction.
IntActiQ8TBB6. 1 interaction.
STRINGi9606.ENSP00000231706.

Structurei

3D structure databases

ProteinModelPortaliQ8TBB6.
SMRiQ8TBB6. Positions 64-429.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

InterProiIPR002293. AA/rel_permease1.
IPR029485. CAT_C.
[Graphical view]
PANTHERiPTHR11785. PTHR11785. 2 hits.
PfamiPF13520. AA_permease_2. 1 hit.
PF13906. AA_permease_C. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti498 – 4981K → R in BAG53645 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti132 – 1321A → V in RP68. 1 Publication
Corresponds to variant rs587777273 [ dbSNP | Ensembl ].
VAR_071050
Natural varianti209 – 2091N → S in RP68; uncertain pathological significance. 1 Publication
Corresponds to variant rs765054383 [ dbSNP | Ensembl ].
VAR_071051
Natural varianti323 – 3231M → I in RP68; uncertain pathological significance. 1 Publication
VAR_071052
Natural varianti330 – 3301G → R in RP68; affects subcellular location. 1 Publication
Corresponds to variant rs2276717 [ dbSNP | Ensembl ].
VAR_035417
Natural varianti391 – 3911S → L in RP68; uncertain pathological significance. 1 Publication
Corresponds to variant rs375705180 [ dbSNP | Ensembl ].
VAR_071053
Natural varianti464 – 4641C → F in RP68. 1 Publication
Corresponds to variant rs79668755 [ dbSNP | Ensembl ].
VAR_071054
Natural varianti695 – 6951R → C in RP68; uncertain pathological significance. 1 Publication
Corresponds to variant rs181011740 [ dbSNP | Ensembl ].
VAR_071055
Natural varianti708 – 7081F → V in RP68. 1 Publication
Corresponds to variant rs587777272 [ dbSNP | Ensembl ].
VAR_071056

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ8TBB6.
SMRiQ8TBB6. Positions 64-429.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121733. 1 interaction.
IntActiQ8TBB6. 1 interaction.
STRINGi9606.ENSP00000231706.

Protein family/group databases

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

PTM databases

iPTMnetiQ8TBB6.
PhosphoSiteiQ8TBB6.

Polymorphism and mutation databases

BioMutaiSLC7A14.
DMDMi296452968.

Proteomic databases

PaxDbiQ8TBB6.
PeptideAtlasiQ8TBB6.
PRIDEiQ8TBB6.

Protocols and materials databases

DNASUi57709.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi57709.
GeneCardsiSLC7A14.
HGNCiHGNC:29326. SLC7A14.
HPAiHPA045929.
MalaCardsiSLC7A14.
MIMi615720. gene.
615725. phenotype.
neXtProtiNX_Q8TBB6.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA142670913.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

GenomeRNAii57709.
PROiQ8TBB6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000013293.
CleanExiHS_SLC7A14.
GenevisibleiQ8TBB6. HS.

Family and domain databases

InterProiIPR002293. AA/rel_permease1.
IPR029485. CAT_C.
[Graphical view]
PANTHERiPTHR11785. PTHR11785. 2 hits.
PfamiPF13520. AA_permease_2. 1 hit.
PF13906. AA_permease_C. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiS7A14_HUMAN
AccessioniPrimary (citable) accession number: Q8TBB6
Secondary accession number(s): B3KV33, Q9HCF9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: May 18, 2010
Last modified: September 7, 2016
This is version 109 of the entry and version 3 of the sequence. [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

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.