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Protein

Neutral and basic amino acid transport protein rBAT

Gene

SLC3A1

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

Functioni

Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system B(0,+)-like activity). May function as an activator of SLC7A9 and be involved in the high-affinity reabsorption of cystine in the kidney tubule.4 Publications

GO - Molecular functioni

  • amino acid transmembrane transporter activity Source: ProtInc
  • basic amino acid transmembrane transporter activity Source: ProtInc
  • catalytic activity Source: InterPro
  • L-cystine transmembrane transporter activity Source: ProtInc

GO - Biological processi

  • amino acid transport Source: Reactome
  • basic amino acid transport Source: ProtInc
  • carbohydrate metabolic process Source: InterPro
  • cellular amino acid metabolic process Source: ProtInc
  • L-cystine transport Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Amino-acid transport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000138079-MONOMER.
ReactomeiR-HSA-352230. Amino acid transport across the plasma membrane.

Protein family/group databases

CAZyiGH13. Glycoside Hydrolase Family 13.
TCDBi8.A.9.1.2. the rbat transport accessory protein (rbat) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Neutral and basic amino acid transport protein rBAT
Short name:
NBAT
Alternative name(s):
D2h
Solute carrier family 3 member 1
b(0,+)-type amino acid transport protein
Gene namesi
Name:SLC3A1
Synonyms:RBAT
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:11025. SLC3A1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 87CytoplasmicSequence analysisAdd BLAST87
Transmembranei88 – 108Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini109 – 685ExtracellularSequence analysisAdd BLAST577

GO - Cellular componenti

  • brush border membrane Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • integral component of plasma membrane Source: ProtInc
  • membrane Source: ProtInc
  • mitochondrial inner membrane Source: Ensembl
  • plasma membrane Source: Reactome
  • vacuolar membrane Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Cystinuria (CSNU)12 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure.
See also OMIM:220100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07228389L → P in CSNU. 1 Publication1
Natural variantiVAR_064040122P → S in CSNU. 1 Publication1
Natural variantiVAR_072284123M → R in CSNU. 1 Publication1
Natural variantiVAR_072285124Y → C in CSNU. 1 PublicationCorresponds to variant rs766947722dbSNPEnsembl.1
Natural variantiVAR_011420128P → Q in CSNU. 1 Publication1
Natural variantiVAR_072286130S → P in CSNU. 1 Publication1
Natural variantiVAR_072287137D → G in CSNU. 2 Publications1
Natural variantiVAR_072288140G → R in CSNU. 1 PublicationCorresponds to variant rs768848958dbSNPEnsembl.1
Natural variantiVAR_072289149L → Q in CSNU. 1 Publication1
Natural variantiVAR_038200151Y → C in CSNU. 1 PublicationCorresponds to variant rs778354350dbSNPEnsembl.1
Natural variantiVAR_072290179D → Y in CSNU. 1 PublicationCorresponds to variant rs747660493dbSNPEnsembl.1
Natural variantiVAR_011421181R → Q in CSNU. 1 PublicationCorresponds to variant rs121912694dbSNPEnsembl.1
Natural variantiVAR_072291183V → A in CSNU; unknown pathological significance. 1 Publication1
Natural variantiVAR_072292189T → M in CSNU. 1 PublicationCorresponds to variant rs140317484dbSNPEnsembl.1
Natural variantiVAR_022600216T → M in CSNU. 2 PublicationsCorresponds to variant rs369641941dbSNPEnsembl.1
Natural variantiVAR_038201253N → K in CSNU. 1 Publication1
Natural variantiVAR_011422268E → K in CSNU; reduction in amino acid transport activity. 1 PublicationCorresponds to variant rs757239030dbSNPEnsembl.1
Natural variantiVAR_011423341T → A in CSNU; reduction in amino acid transport activity. 1 PublicationCorresponds to variant rs200287661dbSNPEnsembl.1
Natural variantiVAR_072293346L → P in CSNU; unknown pathological significance. 1 Publication1
Natural variantiVAR_072294348H → P in CSNU. 1 PublicationCorresponds to variant rs756887216dbSNPEnsembl.1
Natural variantiVAR_022601362R → C in CSNU. 1 PublicationCorresponds to variant rs375399468dbSNPEnsembl.1
Natural variantiVAR_038202362R → H in CSNU. 1 PublicationCorresponds to variant rs121912697dbSNPEnsembl.1
Natural variantiVAR_072295365R → P in CSNU. 1 PublicationCorresponds to variant rs567478582dbSNPEnsembl.1
Natural variantiVAR_011424365R → W in CSNU. 3 PublicationsCorresponds to variant rs765828196dbSNPEnsembl.1
Natural variantiVAR_038203398G → R in CSNU. 1 Publication1
Natural variantiVAR_072296410N → K in CSNU. 1 Publication1
Natural variantiVAR_072297441P → R in CSNU. 1 Publication1
Natural variantiVAR_072298445I → T in CSNU; unknown pathological significance. 1 PublicationCorresponds to variant rs187962930dbSNPEnsembl.1
Natural variantiVAR_072299452R → Q in CSNU. 1 PublicationCorresponds to variant rs750912461dbSNPEnsembl.1
Natural variantiVAR_011425452R → W in CSNU. 2 PublicationsCorresponds to variant rs201502095dbSNPEnsembl.1
Natural variantiVAR_072300455S → L in CSNU. 1 Publication1
Natural variantiVAR_072301456R → C in CSNU. 1 PublicationCorresponds to variant rs139251285dbSNPEnsembl.1
Natural variantiVAR_072302456R → H in CSNU. 1 PublicationCorresponds to variant rs373852467dbSNPEnsembl.1
Natural variantiVAR_011426461Y → H in CSNU. 2 PublicationsCorresponds to variant rs144162964dbSNPEnsembl.1
Natural variantiVAR_011428467M → K in CSNU. 1 PublicationCorresponds to variant rs121912691dbSNPEnsembl.1
Natural variantiVAR_011427467M → T in CSNU; loss of 80% of amino acid transport activity. 6 PublicationsCorresponds to variant rs121912691dbSNPEnsembl.1
Natural variantiVAR_038204481G → V in CSNU. 1 Publication1
Natural variantiVAR_038205482E → K in CSNU. 1 Publication1
Natural variantiVAR_072303507S → L in CSNU. 1 Publication1
Natural variantiVAR_022602508P → A in CSNU. 1 Publication1
Natural variantiVAR_038206510Q → R in CSNU. 1 PublicationCorresponds to variant rs778925791dbSNPEnsembl.1
Natural variantiVAR_072304547S → W in CSNU. 2 PublicationsCorresponds to variant rs368796166dbSNPEnsembl.1
Natural variantiVAR_072305568G → S in CSNU. 1 PublicationCorresponds to variant rs376639206dbSNPEnsembl.1
Natural variantiVAR_011429582Y → H in CSNU. 1 PublicationCorresponds to variant rs776729515dbSNPEnsembl.1
Natural variantiVAR_038207584R → T in CSNU. 1 PublicationCorresponds to variant rs759696513dbSNPEnsembl.1
Natural variantiVAR_038208599F → S in CSNU. 1 PublicationCorresponds to variant rs146963107dbSNPEnsembl.1
Natural variantiVAR_038209600G → E in CSNU. 1 PublicationCorresponds to variant rs141944551dbSNPEnsembl.1
Natural variantiVAR_011430615P → T in CSNU. 1 PublicationCorresponds to variant rs121912696dbSNPEnsembl.1
Natural variantiVAR_011432648F → S in CSNU. 1 Publication1
Natural variantiVAR_011433652T → R in CSNU. 1 PublicationCorresponds to variant rs121912695dbSNPEnsembl.1
Natural variantiVAR_072306666C → W in CSNU. 1 Publication1
Natural variantiVAR_072307673C → R in CSNU; unknown pathological significance. 1 PublicationCorresponds to variant rs756823144dbSNPEnsembl.1
Natural variantiVAR_011434678L → P in CSNU. 1 PublicationCorresponds to variant rs121912693dbSNPEnsembl.1
Hypotonia-cystinuria syndrome (HCS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia and rapid weight gain in late childhood.
See also OMIM:606407

Keywords - Diseasei

Cystinuria, Disease mutation

Organism-specific databases

DisGeNETi6519.
MalaCardsiSLC3A1.
MIMi220100. phenotype.
606407. phenotype.
OpenTargetsiENSG00000138079.
Orphaneti163693. 2p21 microdeletion syndrome.
238523. Atypical hypotonia - cystinuria syndrome.
93612. Cystinuria type A.
163690. Hypotonia - cystinuria syndrome.
PharmGKBiPA35893.

Chemistry databases

DrugBankiDB00138. L-Cystine.

Polymorphism and mutation databases

BioMutaiSLC3A1.
DMDMi67472674.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000719501 – 685Neutral and basic amino acid transport protein rBATAdd BLAST685

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei10PhosphoserineBy similarity1
Glycosylationi214N-linked (GlcNAc...)Sequence analysis1
Glycosylationi261N-linked (GlcNAc...)Sequence analysis1
Glycosylationi332N-linked (GlcNAc...)Sequence analysis1
Glycosylationi495N-linked (GlcNAc...)Sequence analysis1
Glycosylationi513N-linked (GlcNAc...)Sequence analysis1
Glycosylationi575N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ07837.
PeptideAtlasiQ07837.
PRIDEiQ07837.

PTM databases

iPTMnetiQ07837.
PhosphoSitePlusiQ07837.

Expressioni

Tissue specificityi

Expressed in the brush border membrane in the kidney (at protein level). Predominantly expressed in the kidney, small intestine and pancreas. Weakly expressed in liver.3 Publications

Gene expression databases

BgeeiENSG00000138079.
CleanExiHS_SLC3A1.
ExpressionAtlasiQ07837. baseline and differential.
GenevisibleiQ07837. HS.

Organism-specific databases

HPAiHPA038360.

Interactioni

Subunit structurei

Disulfide-linked heterodimer with the amino acid transport protein SLC7A9.2 Publications

Protein-protein interaction databases

BioGridi112410. 1 interactor.
STRINGi9606.ENSP00000260649.

Structurei

3D structure databases

ProteinModelPortaliQ07837.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0471. Eukaryota.
COG0366. LUCA.
GeneTreeiENSGT00860000133838.
HOGENOMiHOG000220640.
HOVERGENiHBG053002.
InParanoidiQ07837.
KOiK14210.
OMAiEYATDPR.
OrthoDBiEOG091G03FE.
PhylomeDBiQ07837.
TreeFamiTF314498.

Family and domain databases

Gene3Di3.20.20.80. 2 hits.
InterProiIPR015902. Glyco_hydro_13.
IPR006047. Glyco_hydro_13_cat_dom.
IPR013781. Glyco_hydro_catalytic_dom.
IPR017853. Glycoside_hydrolase_SF.
[Graphical view]
PANTHERiPTHR10357. PTHR10357. 2 hits.
PfamiPF00128. Alpha-amylase. 1 hit.
[Graphical view]
SMARTiSM00642. Aamy. 1 hit.
[Graphical view]
SUPFAMiSSF51445. SSF51445. 1 hit.

Sequences (7)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform A (identifier: Q07837-1) [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
MAEDKSKRDS IEMSMKGCQT NNGFVHNEDI LEQTPDPGSS TDNLKHSTRG
60 70 80 90 100
ILGSQEPDFK GVQPYAGMPK EVLFQFSGQA RYRIPREILF WLTVASVLVL
110 120 130 140 150
IAATIAIIAL SPKCLDWWQE GPMYQIYPRS FKDSNKDGNG DLKGIQDKLD
160 170 180 190 200
YITALNIKTV WITSFYKSSL KDFRYGVEDF REVDPIFGTM EDFENLVAAI
210 220 230 240 250
HDKGLKLIID FIPNHTSDKH IWFQLSRTRT GKYTDYYIWH DCTHENGKTI
260 270 280 290 300
PPNNWLSVYG NSSWHFDEVR NQCYFHQFMK EQPDLNFRNP DVQEEIKEIL
310 320 330 340 350
RFWLTKGVDG FSLDAVKFLL EAKHLRDEIQ VNKTQIPDTV TQYSELYHDF
360 370 380 390 400
TTTQVGMHDI VRSFRQTMDQ YSTEPGRYRF MGTEAYAESI DRTVMYYGLP
410 420 430 440 450
FIQEADFPFN NYLSMLDTVS GNSVYEVITS WMENMPEGKW PNWMIGGPDS
460 470 480 490 500
SRLTSRLGNQ YVNVMNMLLF TLPGTPITYY GEEIGMGNIV AANLNESYDI
510 520 530 540 550
NTLRSKSPMQ WDNSSNAGFS EASNTWLPTN SDYHTVNVDV QKTQPRSALK
560 570 580 590 600
LYQDLSLLHA NELLLNRGWF CHLRNDSHYV VYTRELDGID RIFIVVLNFG
610 620 630 640 650
ESTLLNLHNM ISGLPAKMRI RLSTNSADKG SKVDTSGIFL DKGEGLIFEH
660 670 680
NTKNLLHRQT AFRDRCFVSN RACYSSVLNI LYTSC
Length:685
Mass (Da):78,852
Last modified:May 10, 2005 - v2
Checksum:iF9D6DFD548283899
GO
Isoform B (identifier: Q07837-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-278: Missing.

Show »
Length:407
Mass (Da):46,728
Checksum:i073D5E14EF8FEC59
GO
Isoform C (identifier: Q07837-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     380-391: FMGTEAYAESID → LTTAYALISSQA
     392-685: Missing.

Show »
Length:391
Mass (Da):45,370
Checksum:iBD09E3E0DAD64C0B
GO
Isoform D (identifier: Q07837-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-8: MAEDKSKR → MTLNLVNS
     9-377: Missing.

Show »
Length:316
Mass (Da):35,913
Checksum:i34F115707CF076E1
GO
Isoform E (identifier: Q07837-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     501-502: NT → VS
     503-685: Missing.

Show »
Length:502
Mass (Da):57,998
Checksum:i8EC96914C99BD5D7
GO
Isoform F (identifier: Q07837-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     541-564: QKTQPRSALKLYQDLSLLHANELL → SISENFMLILETKKWVSTESTHSP
     565-685: Missing.

Show »
Length:564
Mass (Da):65,013
Checksum:i00F102753414E97B
GO
Isoform G (identifier: Q07837-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     541-551: QKTQPRSALKL → LLRHPCSSAVA
     552-685: Missing.

Show »
Length:551
Mass (Da):63,401
Checksum:iB92CDFE941512647
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07228389L → P in CSNU. 1 Publication1
Natural variantiVAR_064040122P → S in CSNU. 1 Publication1
Natural variantiVAR_072284123M → R in CSNU. 1 Publication1
Natural variantiVAR_072285124Y → C in CSNU. 1 PublicationCorresponds to variant rs766947722dbSNPEnsembl.1
Natural variantiVAR_011420128P → Q in CSNU. 1 Publication1
Natural variantiVAR_072286130S → P in CSNU. 1 Publication1
Natural variantiVAR_072287137D → G in CSNU. 2 Publications1
Natural variantiVAR_072288140G → R in CSNU. 1 PublicationCorresponds to variant rs768848958dbSNPEnsembl.1
Natural variantiVAR_072289149L → Q in CSNU. 1 Publication1
Natural variantiVAR_038200151Y → C in CSNU. 1 PublicationCorresponds to variant rs778354350dbSNPEnsembl.1
Natural variantiVAR_072290179D → Y in CSNU. 1 PublicationCorresponds to variant rs747660493dbSNPEnsembl.1
Natural variantiVAR_011421181R → Q in CSNU. 1 PublicationCorresponds to variant rs121912694dbSNPEnsembl.1
Natural variantiVAR_072291183V → A in CSNU; unknown pathological significance. 1 Publication1
Natural variantiVAR_072292189T → M in CSNU. 1 PublicationCorresponds to variant rs140317484dbSNPEnsembl.1
Natural variantiVAR_022600216T → M in CSNU. 2 PublicationsCorresponds to variant rs369641941dbSNPEnsembl.1
Natural variantiVAR_038201253N → K in CSNU. 1 Publication1
Natural variantiVAR_011422268E → K in CSNU; reduction in amino acid transport activity. 1 PublicationCorresponds to variant rs757239030dbSNPEnsembl.1
Natural variantiVAR_011423341T → A in CSNU; reduction in amino acid transport activity. 1 PublicationCorresponds to variant rs200287661dbSNPEnsembl.1
Natural variantiVAR_072293346L → P in CSNU; unknown pathological significance. 1 Publication1
Natural variantiVAR_072294348H → P in CSNU. 1 PublicationCorresponds to variant rs756887216dbSNPEnsembl.1
Natural variantiVAR_022601362R → C in CSNU. 1 PublicationCorresponds to variant rs375399468dbSNPEnsembl.1
Natural variantiVAR_038202362R → H in CSNU. 1 PublicationCorresponds to variant rs121912697dbSNPEnsembl.1
Natural variantiVAR_072295365R → P in CSNU. 1 PublicationCorresponds to variant rs567478582dbSNPEnsembl.1
Natural variantiVAR_011424365R → W in CSNU. 3 PublicationsCorresponds to variant rs765828196dbSNPEnsembl.1
Natural variantiVAR_038203398G → R in CSNU. 1 Publication1
Natural variantiVAR_072296410N → K in CSNU. 1 Publication1
Natural variantiVAR_072297441P → R in CSNU. 1 Publication1
Natural variantiVAR_072298445I → T in CSNU; unknown pathological significance. 1 PublicationCorresponds to variant rs187962930dbSNPEnsembl.1
Natural variantiVAR_072299452R → Q in CSNU. 1 PublicationCorresponds to variant rs750912461dbSNPEnsembl.1
Natural variantiVAR_011425452R → W in CSNU. 2 PublicationsCorresponds to variant rs201502095dbSNPEnsembl.1
Natural variantiVAR_072300455S → L in CSNU. 1 Publication1
Natural variantiVAR_072301456R → C in CSNU. 1 PublicationCorresponds to variant rs139251285dbSNPEnsembl.1
Natural variantiVAR_072302456R → H in CSNU. 1 PublicationCorresponds to variant rs373852467dbSNPEnsembl.1
Natural variantiVAR_011426461Y → H in CSNU. 2 PublicationsCorresponds to variant rs144162964dbSNPEnsembl.1
Natural variantiVAR_011428467M → K in CSNU. 1 PublicationCorresponds to variant rs121912691dbSNPEnsembl.1
Natural variantiVAR_011427467M → T in CSNU; loss of 80% of amino acid transport activity. 6 PublicationsCorresponds to variant rs121912691dbSNPEnsembl.1
Natural variantiVAR_038204481G → V in CSNU. 1 Publication1
Natural variantiVAR_038205482E → K in CSNU. 1 Publication1
Natural variantiVAR_072303507S → L in CSNU. 1 Publication1
Natural variantiVAR_022602508P → A in CSNU. 1 Publication1
Natural variantiVAR_038206510Q → R in CSNU. 1 PublicationCorresponds to variant rs778925791dbSNPEnsembl.1
Natural variantiVAR_072304547S → W in CSNU. 2 PublicationsCorresponds to variant rs368796166dbSNPEnsembl.1
Natural variantiVAR_072305568G → S in CSNU. 1 PublicationCorresponds to variant rs376639206dbSNPEnsembl.1
Natural variantiVAR_011429582Y → H in CSNU. 1 PublicationCorresponds to variant rs776729515dbSNPEnsembl.1
Natural variantiVAR_038207584R → T in CSNU. 1 PublicationCorresponds to variant rs759696513dbSNPEnsembl.1
Natural variantiVAR_038208599F → S in CSNU. 1 PublicationCorresponds to variant rs146963107dbSNPEnsembl.1
Natural variantiVAR_038209600G → E in CSNU. 1 PublicationCorresponds to variant rs141944551dbSNPEnsembl.1
Natural variantiVAR_011430615P → T in CSNU. 1 PublicationCorresponds to variant rs121912696dbSNPEnsembl.1
Natural variantiVAR_011431618M → I.8 PublicationsCorresponds to variant rs698761dbSNPEnsembl.1
Natural variantiVAR_011432648F → S in CSNU. 1 Publication1
Natural variantiVAR_011433652T → R in CSNU. 1 PublicationCorresponds to variant rs121912695dbSNPEnsembl.1
Natural variantiVAR_072306666C → W in CSNU. 1 Publication1
Natural variantiVAR_072307673C → R in CSNU; unknown pathological significance. 1 PublicationCorresponds to variant rs756823144dbSNPEnsembl.1
Natural variantiVAR_011434678L → P in CSNU. 1 PublicationCorresponds to variant rs121912693dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0543391 – 278Missing in isoform B. 1 PublicationAdd BLAST278
Alternative sequenceiVSP_0543401 – 8MAEDKSKR → MTLNLVNS in isoform D. 1 Publication8
Alternative sequenceiVSP_0543419 – 377Missing in isoform D. 1 PublicationAdd BLAST369
Alternative sequenceiVSP_054342380 – 391FMGTE…AESID → LTTAYALISSQA in isoform C. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_054343392 – 685Missing in isoform C. 1 PublicationAdd BLAST294
Alternative sequenceiVSP_054344501 – 502NT → VS in isoform E. 1 Publication2
Alternative sequenceiVSP_054345503 – 685Missing in isoform E. 1 PublicationAdd BLAST183
Alternative sequenceiVSP_054346541 – 564QKTQP…ANELL → SISENFMLILETKKWVSTES THSP in isoform F. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_054347541 – 551QKTQPRSALKL → LLRHPCSSAVA in isoform G. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_054348552 – 685Missing in isoform G. 1 PublicationAdd BLAST134
Alternative sequenceiVSP_054349565 – 685Missing in isoform F. 1 PublicationAdd BLAST121

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M95548 mRNA. Translation: AAA35500.1.
L11696 mRNA. Translation: AAA81778.1.
D82326 mRNA. Translation: BAA11541.1.
U60819
, U60810, U60811, U60812, U60813, U60816, U60818, U60814, U60815 Genomic DNA. Translation: AAB39829.1.
AB033549 mRNA. Translation: BAB16841.1.
DQ023512 mRNA. Translation: AAY89643.1.
DQ023513 mRNA. Translation: AAY89644.1.
DQ023514 mRNA. Translation: AAY89645.1.
DQ023515 mRNA. Translation: AAY89646.1.
DQ023516 mRNA. Translation: AAY89647.1.
DQ023517 mRNA. Translation: AAY89648.1.
AK223146 mRNA. Translation: BAD96866.1.
AK289636 mRNA. Translation: BAF82325.1.
AC013717 Genomic DNA. Translation: AAX88955.1.
BC022386 mRNA. Translation: AAH22386.1.
BC093624 mRNA. Translation: AAH93624.1.
BC093626 mRNA. Translation: AAH93626.1.
CCDSiCCDS1819.1. [Q07837-1]
PIRiA47102.
RefSeqiNP_000332.2. NM_000341.3. [Q07837-1]
UniGeneiHs.112916.

Genome annotation databases

EnsembliENST00000260649; ENSP00000260649; ENSG00000138079. [Q07837-1]
ENST00000409229; ENSP00000386620; ENSG00000138079. [Q07837-6]
ENST00000409380; ENSP00000386709; ENSG00000138079. [Q07837-2]
ENST00000409740; ENSP00000386677; ENSG00000138079. [Q07837-4]
ENST00000409741; ENSP00000386954; ENSG00000138079. [Q07837-5]
ENST00000410056; ENSP00000387337; ENSG00000138079. [Q07837-3]
GeneIDi6519.
KEGGihsa:6519.
UCSCiuc002rty.4. human. [Q07837-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Cysdb

Cystinuria database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M95548 mRNA. Translation: AAA35500.1.
L11696 mRNA. Translation: AAA81778.1.
D82326 mRNA. Translation: BAA11541.1.
U60819
, U60810, U60811, U60812, U60813, U60816, U60818, U60814, U60815 Genomic DNA. Translation: AAB39829.1.
AB033549 mRNA. Translation: BAB16841.1.
DQ023512 mRNA. Translation: AAY89643.1.
DQ023513 mRNA. Translation: AAY89644.1.
DQ023514 mRNA. Translation: AAY89645.1.
DQ023515 mRNA. Translation: AAY89646.1.
DQ023516 mRNA. Translation: AAY89647.1.
DQ023517 mRNA. Translation: AAY89648.1.
AK223146 mRNA. Translation: BAD96866.1.
AK289636 mRNA. Translation: BAF82325.1.
AC013717 Genomic DNA. Translation: AAX88955.1.
BC022386 mRNA. Translation: AAH22386.1.
BC093624 mRNA. Translation: AAH93624.1.
BC093626 mRNA. Translation: AAH93626.1.
CCDSiCCDS1819.1. [Q07837-1]
PIRiA47102.
RefSeqiNP_000332.2. NM_000341.3. [Q07837-1]
UniGeneiHs.112916.

3D structure databases

ProteinModelPortaliQ07837.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112410. 1 interactor.
STRINGi9606.ENSP00000260649.

Chemistry databases

DrugBankiDB00138. L-Cystine.

Protein family/group databases

CAZyiGH13. Glycoside Hydrolase Family 13.
TCDBi8.A.9.1.2. the rbat transport accessory protein (rbat) family.

PTM databases

iPTMnetiQ07837.
PhosphoSitePlusiQ07837.

Polymorphism and mutation databases

BioMutaiSLC3A1.
DMDMi67472674.

Proteomic databases

PaxDbiQ07837.
PeptideAtlasiQ07837.
PRIDEiQ07837.

Protocols and materials databases

DNASUi6519.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000260649; ENSP00000260649; ENSG00000138079. [Q07837-1]
ENST00000409229; ENSP00000386620; ENSG00000138079. [Q07837-6]
ENST00000409380; ENSP00000386709; ENSG00000138079. [Q07837-2]
ENST00000409740; ENSP00000386677; ENSG00000138079. [Q07837-4]
ENST00000409741; ENSP00000386954; ENSG00000138079. [Q07837-5]
ENST00000410056; ENSP00000387337; ENSG00000138079. [Q07837-3]
GeneIDi6519.
KEGGihsa:6519.
UCSCiuc002rty.4. human. [Q07837-1]

Organism-specific databases

CTDi6519.
DisGeNETi6519.
GeneCardsiSLC3A1.
HGNCiHGNC:11025. SLC3A1.
HPAiHPA038360.
MalaCardsiSLC3A1.
MIMi104614. gene.
220100. phenotype.
606407. phenotype.
neXtProtiNX_Q07837.
OpenTargetsiENSG00000138079.
Orphaneti163693. 2p21 microdeletion syndrome.
238523. Atypical hypotonia - cystinuria syndrome.
93612. Cystinuria type A.
163690. Hypotonia - cystinuria syndrome.
PharmGKBiPA35893.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0471. Eukaryota.
COG0366. LUCA.
GeneTreeiENSGT00860000133838.
HOGENOMiHOG000220640.
HOVERGENiHBG053002.
InParanoidiQ07837.
KOiK14210.
OMAiEYATDPR.
OrthoDBiEOG091G03FE.
PhylomeDBiQ07837.
TreeFamiTF314498.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000138079-MONOMER.
ReactomeiR-HSA-352230. Amino acid transport across the plasma membrane.

Miscellaneous databases

ChiTaRSiSLC3A1. human.
GeneWikiiSLC3A1.
GenomeRNAii6519.
PROiQ07837.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000138079.
CleanExiHS_SLC3A1.
ExpressionAtlasiQ07837. baseline and differential.
GenevisibleiQ07837. HS.

Family and domain databases

Gene3Di3.20.20.80. 2 hits.
InterProiIPR015902. Glyco_hydro_13.
IPR006047. Glyco_hydro_13_cat_dom.
IPR013781. Glyco_hydro_catalytic_dom.
IPR017853. Glycoside_hydrolase_SF.
[Graphical view]
PANTHERiPTHR10357. PTHR10357. 2 hits.
PfamiPF00128. Alpha-amylase. 1 hit.
[Graphical view]
SMARTiSM00642. Aamy. 1 hit.
[Graphical view]
SUPFAMiSSF51445. SSF51445. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiSLC31_HUMAN
AccessioniPrimary (citable) accession number: Q07837
Secondary accession number(s): A8K0S1
, O00658, Q15295, Q4J6B4, Q4J6B5, Q4J6B6, Q4J6B7, Q4J6B8, Q4J6B9, Q52M92, Q52M94
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: May 10, 2005
Last modified: November 30, 2016
This is version 176 of the entry and version 2 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 2
    Human chromosome 2: 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

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.