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Protein

Solute carrier family 13 member 5

Gene

SLC13A5

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

Functioni

High-affinity sodium/citrate cotransporter that mediates citrate entry into cells. The transport process is electrogenic; it is the trivalent form of citrate rather than the divalent form that is recognized as a substrate. May facilitate the utilization of circulating citrate for the generation of metabolic energy and for the synthesis of fatty acids and cholesterol.2 Publications

GO - Molecular functioni

GO - Biological processi

  • citrate transport Source: UniProtKB
  • tricarboxylic acid transmembrane transport Source: GO_Central

Keywordsi

Biological processIon transport, Sodium transport, Symport, Transport
LigandSodium

Enzyme and pathway databases

ReactomeiR-HSA-433137 Sodium-coupled sulphate, di- and tri-carboxylate transporters

Protein family/group databases

TCDBi2.A.47.1.9 the divalent anion:na(+) symporter (dass) family

Names & Taxonomyi

Protein namesi
Recommended name:
Solute carrier family 13 member 5
Alternative name(s):
Na(+)/citrate cotransporter
Short name:
NaCT
Sodium-coupled citrate transporter
Sodium-dependent citrate transporter
Gene namesi
Name:SLC13A5
Synonyms:NACT
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000141485.16
HGNCiHGNC:23089 SLC13A5
MIMi608305 gene
neXtProtiNX_Q86YT5

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
Transmembranei13 – 33HelicalSequence analysisAdd BLAST21
Transmembranei53 – 73HelicalSequence analysisAdd BLAST21
Transmembranei80 – 100HelicalSequence analysisAdd BLAST21
Transmembranei124 – 144HelicalSequence analysisAdd BLAST21
Transmembranei215 – 235HelicalSequence analysisAdd BLAST21
Transmembranei252 – 272HelicalSequence analysisAdd BLAST21
Transmembranei311 – 331HelicalSequence analysisAdd BLAST21
Transmembranei353 – 373HelicalSequence analysisAdd BLAST21
Transmembranei406 – 426HelicalSequence analysisAdd BLAST21
Transmembranei439 – 459HelicalSequence analysisAdd BLAST21
Transmembranei487 – 507HelicalSequence analysisAdd BLAST21
Transmembranei528 – 548HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Epileptic encephalopathy, early infantile, 25 (EIEE25)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by seizures appearing in the first days of life, subclinical epileptic status, and recognizable EEG patterns with bilateral, multifocal status epilepticus. Patients have profound or severe delayed development with lack of speech, and most patients do not acquire the ability to sit. Additional variable features include axial hypotonia, peripheral hypertonia, and abnormal involuntary movements such as dystonia and choreoathetosis.
See also OMIM:615905
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078912142T → M in EIEE25; loss of localization to plasma membrane; loss of function in citrate transport. 1 PublicationCorresponds to variant dbSNP:rs761917087EnsemblClinVar.1
Natural variantiVAR_078913219G → A in EIEE25; loss of function in citrate transport; no effect on localization to plasma membrane. 2 Publications1
Natural variantiVAR_078914227T → M in EIEE25; loss of function in citrate transport; no effect on localization to plasma membrane. 2 PublicationsCorresponds to variant dbSNP:rs587777577EnsemblClinVar.1
Natural variantiVAR_078915341 – 568Missing in EIEE25; loss of localization to plasma membrane; loss of function in citrate transport. 1 PublicationAdd BLAST228
Natural variantiVAR_078916427S → L in EIEE25; loss of localization to plasma membrane; loss of function in citrate transport. 1 PublicationCorresponds to variant dbSNP:rs548065551EnsemblClinVar.1
Natural variantiVAR_078917488L → P in EIEE25. 1 PublicationCorresponds to variant dbSNP:rs587777578EnsemblClinVar.1
Natural variantiVAR_078918524D → H in EIEE25; loss of function in citrate transport; no effect on localization to plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs863225448EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi284111
MalaCardsiSLC13A5
MIMi615905 phenotype
OpenTargetsiENSG00000141485
Orphaneti1934 Early infantile epileptic encephalopathy
PharmGKBiPA134950956

Chemistry databases

ChEMBLiCHEMBL3769293

Polymorphism and mutation databases

DMDMi74714197

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002601011 – 568Solute carrier family 13 member 5Add BLAST568

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi562N-linked (GlcNAc...) asparagine1 Publication1

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ86YT5
PaxDbiQ86YT5
PeptideAtlasiQ86YT5
PRIDEiQ86YT5

PTM databases

iPTMnetiQ86YT5
PhosphoSitePlusiQ86YT5

Expressioni

Tissue specificityi

Expressed most predominantly in the liver, with moderate expression detectable in the brain and testis.1 Publication

Gene expression databases

BgeeiENSG00000141485
CleanExiHS_SLC13A5
ExpressionAtlasiQ86YT5 baseline and differential
GenevisibleiQ86YT5 HS

Organism-specific databases

HPAiHPA044343
HPA057088

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi129763, 2 interactors
IntActiQ86YT5, 14 interactors
STRINGi9606.ENSP00000406220

Chemistry databases

BindingDBiQ86YT5

Structurei

3D structure databases

ProteinModelPortaliQ86YT5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1281 Eukaryota
COG0471 LUCA
GeneTreeiENSGT00550000074480
HOGENOMiHOG000278432
HOVERGENiHBG055339
InParanoidiQ86YT5
KOiK14445
OMAiGLSVWMG
OrthoDBiEOG091G092X
PhylomeDBiQ86YT5
TreeFamiTF312913

Family and domain databases

InterProiView protein in InterPro
IPR031312 Na/sul_symport_CS
IPR001898 SLC13A/DASS
PfamiView protein in Pfam
PF00939 Na_sulph_symp, 1 hit
PROSITEiView protein in PROSITE
PS01271 NA_SULFATE, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q86YT5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MASALSYVSK FKSFVILFVT PLLLLPLVIL MPAKFVRCAY VIILMAIYWC
60 70 80 90 100
TEVIPLAVTS LMPVLLFPLF QILDSRQVCV QYMKDTNMLF LGGLIVAVAV
110 120 130 140 150
ERWNLHKRIA LRTLLWVGAK PARLMLGFMG VTALLSMWIS NTATTAMMVP
160 170 180 190 200
IVEAILQQME ATSAATEAGL ELVDKGKAKE LPGSQVIFEG PTLGQQEDQE
210 220 230 240 250
RKRLCKAMTL CICYAASIGG TATLTGTGPN VVLLGQMNEL FPDSKDLVNF
260 270 280 290 300
ASWFAFAFPN MLVMLLFAWL WLQFVYMRFN FKKSWGCGLE SKKNEKAALK
310 320 330 340 350
VLQEEYRKLG PLSFAEINVL ICFFLLVILW FSRDPGFMPG WLTVAWVEGE
360 370 380 390 400
TKYVSDATVA IFVATLLFIV PSQKPKFNFR SQTEEERKTP FYPPPLLDWK
410 420 430 440 450
VTQEKVPWGI VLLLGGGFAL AKGSEASGLS VWMGKQMEPL HAVPPAAITL
460 470 480 490 500
ILSLLVAVFT ECTSNVATTT LFLPIFASMS RSIGLNPLYI MLPCTLSASF
510 520 530 540 550
AFMLPVATPP NAIVFTYGHL KVADMVKTGV IMNIIGVFCV FLAVNTWGRA
560
IFDLDHFPDW ANVTHIET
Length:568
Mass (Da):63,062
Last modified:June 1, 2003 - v1
Checksum:iB8995E56618DECCB
GO
Isoform 2 (identifier: Q86YT5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     479-524: Missing.

Note: No experimental confirmation available.
Show »
Length:522
Mass (Da):58,110
Checksum:iCD82CB02F6D574C7
GO
Isoform 3 (identifier: Q86YT5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     124-140: Missing.

Note: No experimental confirmation available.
Show »
Length:551
Mass (Da):61,210
Checksum:iB14F022B99048FF6
GO
Isoform 4 (identifier: Q86YT5-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     35-77: Missing.

Note: No experimental confirmation available.
Show »
Length:525
Mass (Da):58,092
Checksum:iF2D93F70F424B588
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti269W → R in BAD18766 (PubMed:14702039).Curated1
Sequence conflicti330W → R in BAH12628 (PubMed:14702039).Curated1
Sequence conflicti376K → R in BAD18766 (PubMed:14702039).Curated1
Sequence conflicti475I → V in BAH12628 (PubMed:14702039).Curated1
Sequence conflicti548G → E in BAH12628 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078912142T → M in EIEE25; loss of localization to plasma membrane; loss of function in citrate transport. 1 PublicationCorresponds to variant dbSNP:rs761917087EnsemblClinVar.1
Natural variantiVAR_078913219G → A in EIEE25; loss of function in citrate transport; no effect on localization to plasma membrane. 2 Publications1
Natural variantiVAR_078914227T → M in EIEE25; loss of function in citrate transport; no effect on localization to plasma membrane. 2 PublicationsCorresponds to variant dbSNP:rs587777577EnsemblClinVar.1
Natural variantiVAR_078915341 – 568Missing in EIEE25; loss of localization to plasma membrane; loss of function in citrate transport. 1 PublicationAdd BLAST228
Natural variantiVAR_078916427S → L in EIEE25; loss of localization to plasma membrane; loss of function in citrate transport. 1 PublicationCorresponds to variant dbSNP:rs548065551EnsemblClinVar.1
Natural variantiVAR_078917488L → P in EIEE25. 1 PublicationCorresponds to variant dbSNP:rs587777578EnsemblClinVar.1
Natural variantiVAR_078918524D → H in EIEE25; loss of function in citrate transport; no effect on localization to plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs863225448EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05565235 – 77Missing in isoform 4. 1 PublicationAdd BLAST43
Alternative sequenceiVSP_054910124 – 140Missing in isoform 3. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_043098479 – 524Missing in isoform 2. 1 PublicationAdd BLAST46

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY151833 mRNA Translation: AAN86530.1
AK172785 mRNA Translation: BAD18766.1
AK127797 mRNA Translation: BAG54572.1
AK297612 mRNA Translation: BAH12628.1
AC004706 Genomic DNA No translation available.
CH471108 Genomic DNA Translation: EAW90292.1
BC104795 mRNA Translation: AAI04796.1
BC112151 mRNA Translation: AAI12152.1
BC143689 mRNA Translation: AAI43690.1
CCDSiCCDS11079.1 [Q86YT5-1]
CCDS45593.1 [Q86YT5-2]
CCDS67136.1 [Q86YT5-4]
CCDS67137.1 [Q86YT5-3]
RefSeqiNP_001137310.1, NM_001143838.2 [Q86YT5-2]
NP_001271438.1, NM_001284509.1 [Q86YT5-3]
NP_001271439.1, NM_001284510.1 [Q86YT5-4]
NP_808218.1, NM_177550.4 [Q86YT5-1]
UniGeneiHs.399496

Genome annotation databases

EnsembliENST00000293800; ENSP00000293800; ENSG00000141485 [Q86YT5-3]
ENST00000381074; ENSP00000370464; ENSG00000141485 [Q86YT5-4]
ENST00000433363; ENSP00000406220; ENSG00000141485 [Q86YT5-1]
ENST00000573648; ENSP00000459372; ENSG00000141485 [Q86YT5-2]
GeneIDi284111
KEGGihsa:284111
UCSCiuc002gdj.5 human [Q86YT5-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiS13A5_HUMAN
AccessioniPrimary (citable) accession number: Q86YT5
Secondary accession number(s): B3KXR0
, B7Z4P2, B7ZLB4, F8W7N2, Q6ZMG1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: June 1, 2003
Last modified: May 23, 2018
This is version 114 of the entry and version 1 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

Documents

  1. Human chromosome 17
    Human chromosome 17: 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

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