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Protein

Proton-associated sugar transporter A

Gene

SLC45A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Proton-associated glucose transporter in the brain.By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processSugar transport, Symport, Transport

Protein family/group databases

TCDBi2.A.2.4.10. the glycoside-pentoside-hexuronide (gph):cation symporter family.

Names & Taxonomyi

Protein namesi
Recommended name:
Proton-associated sugar transporter A
Short name:
PAST-A
Alternative name(s):
Deleted in neuroblastoma 5 protein
Short name:
DNb-5
Solute carrier family 45 member 1
Gene namesi
Name:SLC45A1
Synonyms:DNB5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000162426.14.
HGNCiHGNC:17939. SLC45A1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei127 – 147HelicalSequence analysisAdd BLAST21
Transmembranei157 – 177HelicalSequence analysisAdd BLAST21
Transmembranei189 – 209HelicalSequence analysisAdd BLAST21
Transmembranei225 – 245HelicalSequence analysisAdd BLAST21
Transmembranei267 – 287HelicalSequence analysisAdd BLAST21
Transmembranei302 – 322HelicalSequence analysisAdd BLAST21
Transmembranei567 – 587HelicalSequence analysisAdd BLAST21
Transmembranei607 – 627HelicalSequence analysisAdd BLAST21
Transmembranei634 – 654HelicalSequence analysisAdd BLAST21
Transmembranei661 – 681HelicalSequence analysisAdd BLAST21
Transmembranei719 – 739HelicalSequence analysisAdd BLAST21
Transmembranei742 – 762HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Intellectual developmental disorder with neuropsychiatric features (IDDNPF)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by moderate to severe intellectual disability, epilepsy, and variable neuropsychiatric features, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphism may also be present.
See also OMIM:617532
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07934490I → T in IDDNPF; no effect on protein abundance; no effect on glucose transport activity. 2 Publications1
Natural variantiVAR_079345210R → W in IDDNPF; no effect on protein abundance; decreased glucose transport activity. 1 Publication1
Natural variantiVAR_079346244A → V in IDDNPF; no effect on protein abundance; decreased glucose transport activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

DisGeNETi50651.
MIMi617532. phenotype.
OpenTargetsiENSG00000162426.

Polymorphism and mutation databases

BioMutaiSLC45A1.
DMDMi311033543.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001225141 – 782Proton-associated sugar transporter AAdd BLAST782

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei531PhosphothreonineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9Y2W3.
PeptideAtlasiQ9Y2W3.
PRIDEiQ9Y2W3.

PTM databases

iPTMnetiQ9Y2W3.
PhosphoSitePlusiQ9Y2W3.

Expressioni

Tissue specificityi

Expressed in adult heart, brain, muscle and kidney, with very strong expression in brain. Also expressed in fetal brain, kidney and lung.1 Publication

Gene expression databases

BgeeiENSG00000162426.
CleanExiHS_SLC45A1.
ExpressionAtlasiQ9Y2W3. baseline and differential.
GenevisibleiQ9Y2W3. HS.

Interactioni

Protein-protein interaction databases

IntActiQ9Y2W3. 1 interactor.

Structurei

3D structure databases

ProteinModelPortaliQ9Y2W3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0637. Eukaryota.
ENOG410Y28T. LUCA.
GeneTreeiENSGT00390000018882.
HOGENOMiHOG000231090.
HOVERGENiHBG053518.
InParanoidiQ9Y2W3.
KOiK15378.
OMAiPLTPKYG.
OrthoDBiEOG091G05H5.
PhylomeDBiQ9Y2W3.
TreeFamiTF325412.

Family and domain databases

InterProiView protein in InterPro
IPR011701. MFS.
IPR036259. MFS_trans_sf.
PfamiView protein in Pfam
PF07690. MFS_1. 1 hit.
SUPFAMiSSF103473. SSF103473. 2 hits.

Sequencei

Sequence statusi: Complete.

Q9Y2W3-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MLQQPGPRPG RQQPSGDRDA CRLHPQGRPP ALPTMIPAAS STPPGDALFP
60 70 80 90 100
SVAPQDFWRS QVTGYSGSVT RHLSHRANNF KRHPKRRKCI RPSPPPPPNT
110 120 130 140 150
PCPLELVDFG DLHPQRSFRE LLFNGCILFG IEFSYAMETA YVTPVLLQMG
160 170 180 190 200
LPDQLYSLVW FISPILGFLL QPLLGAWSDR CTSRFGRRRP FILVLAIGAL
210 220 230 240 250
LGLSLLLNGR DIGIALADVT GNHKWGLLLT VCGVVLMDFS ADSADNPSHA
260 270 280 290 300
YMMDVCSPAD QDRGLNIHAL LAGLGGGFGY VVGGIHWDKT GFGRALGGQL
310 320 330 340 350
RVIYLFTAVT LSVTTVLTLV SIPERPLRPP SEKRAAMKSP SLPLPPSPPV
360 370 380 390 400
LPEEGPGDSL PSHTATNFSS PISPPSPLTP KYGSFISRDS SLTGISEFAS
410 420 430 440 450
SFGTANIDSV LIDCFTGGHD SYLAIPGSVP RPPISVSFPR APDGFYRQDR
460 470 480 490 500
GLLEGREGAL TSGCDGDILR VGSLDTSKPR SSGILKRPQT LAIPDAAGGG
510 520 530 540 550
GPETSRRRNV TFSQQVANIL LNGVKYESEL TGSSERAEQP LSVGRLCSTI
560 570 580 590 600
CNMPKALRTL CVNHFLGWLS FEGMLLFYTD FMGEVVFQGD PKAPHTSEAY
610 620 630 640 650
QKYNSGVTMG CWGMCIYAFS AAFYSAILEK LEEFLSVRTL YFIAYLAFGL
660 670 680 690 700
GTGLATLSRN LYVVLSLCIT YGILFSTLCT LPYSLLCDYY QSKKFAGSSA
710 720 730 740 750
DGTRRGMGVD ISLLSCQYFL AQILVSLVLG PLTSAVGSAN GVMYFSSLVS
760 770 780
FLGCLYSSLF VIYEIPPSDA ADEEHRPLLL NV
Length:782
Mass (Da):84,541
Last modified:November 22, 2017 - v5
Checksum:iCC841FDE4159A2DB
GO

Sequence cautioni

The sequence AAD27583 differs from that shown. Probable cloning artifact.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti282V → L in AAD27583 (PubMed:10729226).Curated1
Sequence conflicti300L → F in AAD27583 (PubMed:10729226).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07934490I → T in IDDNPF; no effect on protein abundance; no effect on glucose transport activity. 2 Publications1
Natural variantiVAR_079345210R → W in IDDNPF; no effect on protein abundance; decreased glucose transport activity. 1 Publication1
Natural variantiVAR_079346244A → V in IDDNPF; no effect on protein abundance; decreased glucose transport activity. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL356072 Genomic DNA. No translation available.
CH471130 Genomic DNA. Translation: EAW71597.1.
AF118274 mRNA. Translation: AAD27583.1. Sequence problems.
RefSeqiNP_001073866.2. NM_001080397.2.
UniGeneiHs.463036.

Genome annotation databases

EnsembliENST00000289877; ENSP00000289877; ENSG00000162426.
GeneIDi50651.
KEGGihsa:50651.
UCSCiuc001apb.3. human.

Similar proteinsi

Entry informationi

Entry nameiS45A1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y2W3
Secondary accession number(s): A0A0A0MT80, Q5VY46, Q5VY49
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 24, 2003
Last sequence update: November 22, 2017
Last modified: November 22, 2017
This is version 119 of the entry and version 5 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 1
    Human chromosome 1: 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