SLC45A1

SLC45A1
Identifiers
Aliases	SLC45A1, DNB5, solute carrier family 45 member 1, IDDNPF, PAST-A
External IDs	OMIM: 605763; MGI: 2653235; HomoloGene: 44908; GeneCards: SLC45A1; OMA:SLC45A1 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	8,344,167 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	150,736,631 bp
RNA expression pattern
	Top expressed in
	testicle; ; gonad; ; prefrontal cortex; ; right frontal lobe; ; right hemisphere of cerebellum; ; Brodmann area 9; ; middle temporal gyrus; ; Brodmann area 23; ; primary visual cortex; ; cingulate gyrus;
	Top expressed in
	primary visual cortex; ; superior frontal gyrus; ; cerebellar cortex; ; dentate gyrus of hippocampal formation granule cell; ; neural tube; ; hippocampus proper; ; gastrula; ; brain stem; ; mesencephalon; ; hypothalamus;
	More reference expression data
	n/a
Gene ontology
Molecular function	symporter activity; sucrose:proton symporter activity;
Cellular component	integral component of membrane; membrane;
Biological process	transmembrane transport; carbohydrate transport; glucose transmembrane transport; sucrose transport;
	Sources:Amigo / QuickGO
Orthologs
	50651
	242773
	ENSG00000162426
	ENSMUSG00000039838
	Q9Y2W3
	Q8BIV7
	NM_001080397
	NM_173774; NM_001355737
NP_001073866; NP_001366543; NP_001366544; NP_001366545; NP_001366546;
	NP_001366547
	NP_776135; NP_001342666
	Wikidata
View/Edit Human	View/Edit Mouse

SLC45A1 is a member of the SLC45 family of solute carriers. Analysis of the protein function in a recombinant yeast expression assay show that it can: (i) transport a disaccharide, such as glucose and sucrose (ii) perform secondary active transport in a proton-dependent manner.^[5]

It is associated with sugar transport in the brain, and rare mutations in the gene are associated with intellectual disability and epilepsy.^[6] analogous to the effect of mutation of the cerebral glucose transporter GLUT1(SLC2A1).

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000162426 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000039838 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Bartölke R, Heinisch JJ, Wieczorek H, Vitavska O (December 2014). "Proton-associated sucrose transport of mammalian solute carrier family 45: an analysis in Saccharomyces cerevisiae". The Biochemical Journal. 464 (2): 193–201. doi:10.1042/BJ20140572. PMID 25164149.
^ Srour M, Shimokawa N, Hamdan FF, Nassif C, Poulin C, Al Gazali L, et al. (May 2017). "Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy". American Journal of Human Genetics. 100 (5): 824–830. doi:10.1016/j.ajhg.2017.03.009. PMC 5420346. PMID 28434495.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000162426 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000039838 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] Bartölke R, Heinisch JJ, Wieczorek H, Vitavska O (December 2014). "Proton-associated sucrose transport of mammalian solute carrier family 45: an analysis in Saccharomyces cerevisiae". The Biochemical Journal. 464 (2): 193–201. doi:10.1042/BJ20140572. PMID 25164149.

[6] Srour M, Shimokawa N, Hamdan FF, Nassif C, Poulin C, Al Gazali L, et al. (May 2017). "Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy". American Journal of Human Genetics. 100 (5): 824–830. doi:10.1016/j.ajhg.2017.03.009. PMC 5420346. PMID 28434495.

[5]

[1]

[2]

[3]

[4]

[6]