UniProtKB - Q9Y2W3 (S45A1_HUMAN)
Protein
Proton-associated sugar transporter A
Gene
SLC45A1
Organism
Homo sapiens (Human)
Status
Functioni
Proton-associated glucose transporter in the brain.By similarity1 Publication
GO - Molecular functioni
- sucrose:proton symporter activity Source: GO_Central
GO - Biological processi
- glucose transmembrane transport Source: UniProtKB
Keywordsi
Biological process | Sugar transport, Symport, Transport |
Protein family/group databases
TCDBi | 2.A.2.4.10 the glycoside-pentoside-hexuronide (gph):cation symporter family |
Names & Taxonomyi
Protein namesi | Recommended name: Proton-associated sugar transporter AShort 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:17939 SLC45A1 |
MIMi | 605763 gene |
neXtProti | NX_Q9Y2W3 |
Subcellular locationi
Other locations
- Membrane 1 Publication; Multi-pass membrane protein Sequence analysis
Plasma Membrane
- integral component of plasma membrane Source: InterPro
Other locations
- membrane Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 127 – 147 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 157 – 177 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 189 – 209 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 225 – 245 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 267 – 287 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 302 – 322 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 567 – 587 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 607 – 627 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 634 – 654 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 661 – 681 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 719 – 739 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 742 – 762 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
MembranePathology & 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_079344 | 90 | I → T in IDDNPF; no effect on protein abundance; no effect on glucose transport activity. 2 PublicationsCorresponds to variant dbSNP:rs141816307Ensembl. | 1 | |
Natural variantiVAR_079345 | 210 | R → W in IDDNPF; no effect on protein abundance; decreased glucose transport activity. 1 PublicationCorresponds to variant dbSNP:rs781036625EnsemblClinVar. | 1 | |
Natural variantiVAR_079346 | 244 | A → V in IDDNPF; no effect on protein abundance; decreased glucose transport activity. 1 PublicationCorresponds to variant dbSNP:rs150539474EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutation, Epilepsy, Mental retardationOrganism-specific databases
DisGeNETi | 50651 |
MalaCardsi | SLC45A1 |
MIMi | 617532 phenotype |
OpenTargetsi | ENSG00000162426 |
Orphaneti | 88616 Autosomal recessive non-syndromic intellectual disability |
Miscellaneous databases
Pharosi | Q9Y2W3 |
Polymorphism and mutation databases
BioMutai | SLC45A1 |
DMDMi | 311033543 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000122514 | 1 – 782 | Proton-associated sugar transporter AAdd BLAST | 782 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 531 | PhosphothreonineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
jPOSTi | Q9Y2W3 |
PaxDbi | Q9Y2W3 |
PeptideAtlasi | Q9Y2W3 |
PRIDEi | Q9Y2W3 |
ProteomicsDBi | 85916 |
PTM databases
iPTMneti | Q9Y2W3 |
PhosphoSitePlusi | Q9Y2W3 |
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
Bgeei | ENSG00000162426 Expressed in 103 organ(s), highest expression level in cerebellum |
ExpressionAtlasi | Q9Y2W3 baseline and differential |
Genevisiblei | Q9Y2W3 HS |
Interactioni
Protein-protein interaction databases
IntActi | Q9Y2W3, 1 interactor |
STRINGi | 9606.ENSP00000289877 |
Family & Domainsi
Sequence similaritiesi
Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family. [View classification]Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0637 Eukaryota ENOG410Y28T LUCA |
GeneTreei | ENSGT00950000182914 |
HOGENOMi | HOG000231090 |
InParanoidi | Q9Y2W3 |
KOi | K15378 |
OMAi | CSTICHM |
OrthoDBi | 1230185at2759 |
PhylomeDBi | Q9Y2W3 |
TreeFami | TF325412 |
Family and domain databases
InterProi | View protein in InterPro IPR011701 MFS IPR036259 MFS_trans_sf |
Pfami | View protein in Pfam PF07690 MFS_1, 1 hit |
SUPFAMi | SSF103473 SSF103473, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q9Y2W3-1 [UniParc]FASTAAdd to basket
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A2H2EQP0 | A0A2H2EQP0_HUMAN | Proton-associated sugar transporter... | SLC45A1 | 748 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 282 | V → L in AAD27583 (PubMed:10729226).Curated | 1 | |
Sequence conflicti | 300 | L → F in AAD27583 (PubMed:10729226).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_079344 | 90 | I → T in IDDNPF; no effect on protein abundance; no effect on glucose transport activity. 2 PublicationsCorresponds to variant dbSNP:rs141816307Ensembl. | 1 | |
Natural variantiVAR_079345 | 210 | R → W in IDDNPF; no effect on protein abundance; decreased glucose transport activity. 1 PublicationCorresponds to variant dbSNP:rs781036625EnsemblClinVar. | 1 | |
Natural variantiVAR_079346 | 244 | A → V in IDDNPF; no effect on protein abundance; decreased glucose transport activity. 1 PublicationCorresponds to variant dbSNP:rs150539474EnsemblClinVar. | 1 |
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. |
RefSeqi | NP_001073866.2, NM_001080397.2 |
Genome annotation databases
Ensembli | ENST00000471889; ENSP00000418096; ENSG00000162426 |
GeneIDi | 50651 |
KEGGi | hsa:50651 |
UCSCi | uc001apb.3 human uc057byt.1 human |
Similar proteinsi
Cross-referencesi
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. |
RefSeqi | NP_001073866.2, NM_001080397.2 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
IntActi | Q9Y2W3, 1 interactor |
STRINGi | 9606.ENSP00000289877 |
Protein family/group databases
TCDBi | 2.A.2.4.10 the glycoside-pentoside-hexuronide (gph):cation symporter family |
PTM databases
iPTMneti | Q9Y2W3 |
PhosphoSitePlusi | Q9Y2W3 |
Polymorphism and mutation databases
BioMutai | SLC45A1 |
DMDMi | 311033543 |
Proteomic databases
jPOSTi | Q9Y2W3 |
PaxDbi | Q9Y2W3 |
PeptideAtlasi | Q9Y2W3 |
PRIDEi | Q9Y2W3 |
ProteomicsDBi | 85916 |
Genome annotation databases
Ensembli | ENST00000471889; ENSP00000418096; ENSG00000162426 |
GeneIDi | 50651 |
KEGGi | hsa:50651 |
UCSCi | uc001apb.3 human uc057byt.1 human |
Organism-specific databases
CTDi | 50651 |
DisGeNETi | 50651 |
GeneCardsi | SLC45A1 |
HGNCi | HGNC:17939 SLC45A1 |
MalaCardsi | SLC45A1 |
MIMi | 605763 gene 617532 phenotype |
neXtProti | NX_Q9Y2W3 |
OpenTargetsi | ENSG00000162426 |
Orphaneti | 88616 Autosomal recessive non-syndromic intellectual disability |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0637 Eukaryota ENOG410Y28T LUCA |
GeneTreei | ENSGT00950000182914 |
HOGENOMi | HOG000231090 |
InParanoidi | Q9Y2W3 |
KOi | K15378 |
OMAi | CSTICHM |
OrthoDBi | 1230185at2759 |
PhylomeDBi | Q9Y2W3 |
TreeFami | TF325412 |
Miscellaneous databases
ChiTaRSi | SLC45A1 human |
GenomeRNAii | 50651 |
Pharosi | Q9Y2W3 |
PROi | PR:Q9Y2W3 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000162426 Expressed in 103 organ(s), highest expression level in cerebellum |
ExpressionAtlasi | Q9Y2W3 baseline and differential |
Genevisiblei | Q9Y2W3 HS |
Family and domain databases
InterProi | View protein in InterPro IPR011701 MFS IPR036259 MFS_trans_sf |
Pfami | View protein in Pfam PF07690 MFS_1, 1 hit |
SUPFAMi | SSF103473 SSF103473, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | S45A1_HUMAN | |
Accessioni | Q9Y2W3Primary (citable) accession number: Q9Y2W3 Secondary accession number(s): A0A0A0MT80, Q5VY46, Q5VY49 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 24, 2003 |
Last sequence update: | November 22, 2017 | |
Last modified: | November 13, 2019 | |
This is version 135 of the entry and version 5 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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 proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - SIMILARITY comments
Index of protein domains and families - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot