SLC45A1
entrez
50651
canonical
uniprot
Q9Y2W3
canonical
ensembl
ENSG00000162426
resolver
ensp
ENSP00000289877
resolver
ensp
ENSP00000418096
resolver
ensp
ENSP00000546691
resolver
ensp
ENSP00000546692
resolver
enst
ENST00000289877
resolver
enst
ENST00000471889
resolver
genesymbol
SLC45A1
resolver
genesymbol_syn
DNB5
resolver
hgnc
HGNC:17939
resolver
uniprot
A0A0A0MT80
resolver
uniprot
A0A2H2EQP0
resolver
uniprot
Q5VY46
resolver
uniprot
Q5VY49
resolver
uniprot_entry
S45A1_HUMAN
resolver
uniprot_sec
A0A0A0MT80
resolver
uniprot_sec
A0A2H2EQP0
resolver
uniprot_sec
Q5VY46
resolver
uniprot_sec
Q5VY49
resolver
amino_acid_sequence
MIPAASSTPPGDALFPSVAPQDFWRSQVTGYSGSVTRHLSHRANNFKRHPKRRKCIRPSPPPPPNTPCPLELVDFGDLHPQRSFRELLFNGCILFGIEFSYAMETAYVTPVLLQMGLPDQLYSLVWFISPILGFLLQPLLGAWSDRCTSRFGRRRPFILVLAIGALLGLSLLLNGRDIGIALADVTGNHKWGLLLTVCGVVLMDFSADSADNPSHAYMMDVCSPADQDRGLNIHALLAGLGGGFGYVVGGIHWDKTGFGRALGGQLRVIYLFTAVTLSVTTVLTLVSIPERPLRPPSEKRAAMKSPSLPLPPSPPVLPEEGPGDSLPSHTATNFSSPISPPSPLTPKYGSFISRDSSLTGISEFASSFGTANIDSVLIDCFTGGHDSYLAIPGSVPRPPISVSFPRAPDGFYRQDRGLLEGREGALTSGCDGDILRVGSLDTSKPRSSGILKRPQTLAIPDAAGGGGPETSRRRNVTFSQQVANILLNGVKYESELTGSSERAEQPLSVGRLCSTICNMPKALRTLCVNHFLGWLSFEGMLLFYTDFMGEVVFQGDPKAPHTSEAYQKYNSGVTMGCWGMCIYAFSAAFYSAILEKLEEFLSVRTLYFIAYLAFGLGTGLATLSRNLYVVLSLCITYGILFSTLCTLPYSLLCDYYQSKKFAGSSADGTRRGMGVDISLLSCQYFLAQILVSLVLGPLTSAVGSANGVMYFSSLVSFLGCLYSSLFVIYEIPPSDAADEEHRPLLLNV
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder with neuropsychiatric features (IDDNPF) [MIM:617532]: An 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. {ECO:0000269|PubMed:28434495, ECO:0000269|PubMed:39003656, ECO:0000269|PubMed:40541196, ECO:0000269|PubMed:41576950}. Note=The disease is caused by variants affecting the gene represented in this entry. Defects are due to impaired lysosomal acidification, disrupted iron homeostasis and mitochondrial dysfunction, which are characteristic of lysosomal storage disorders. {ECO:0000269|PubMed:41576950}.
uniprot
proteins
function
FUNCTION: Neuron-specific proton-associated hexose transporter, which mediates hexose efflux from lysosomes (PubMed:28434495, PubMed:41576950). Hexose efflux is required for the stability of the vacuolar ATPase (V-ATPase) complex on the lysosomal membrane (PubMed:41576950). {ECO:0000269|PubMed:28434495, ECO:0000269|PubMed:41576950}.
uniprot
proteins
mass_dalton
80843
uniprot
proteins
mutagenesis
MUTAGEN 740..745; /note="EHRPLL->AHRPAA: Decreased localization at the lysosome membrane, leading to accumulation at the plasma membrane."; /evidence="ECO:0000269|PubMed:41576950
uniprot
proteins
protein_family
Glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family
uniprot
proteins
pubmed
10729226
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
27431290
uniprot
proteins
pubmed
28434495
uniprot
proteins
pubmed
39003656
uniprot
proteins
pubmed
40541196
uniprot
proteins
pubmed
41576950
uniprot
proteins
sequence_length
748
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:41576950}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 93..113; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 123..143; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 155..175; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 191..211; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 233..253; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 268..288; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 533..553; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 573..593; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 600..620; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 627..647; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 685..705; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 708..728; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins