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SLC45A1

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
SLC45A1
Identifiers
AliasesSLC45A1, DNB5, solute carrier family 45 member 1, IDDNPF, PAST-A
External IDsOMIM:605763;MGI:2653235;HomoloGene:44908;GeneCards:SLC45A1;OMA:SLC45A1 - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for SLC45A1
Genomic location for SLC45A1
Band1p36.23Start8,317,826bp[1]
End8,344,167bp[1]
Gene location (Mouse)
Chromosome 4 (mouse)
Chr.Chromosome 4 (mouse)[2]
Chromosome 4 (mouse)
Genomic location for SLC45A1
Genomic location for SLC45A1
Band4|4 E2Start150,713,029bp[2]
End150,736,631bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
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
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

50651

242773

Ensembl

ENSG00000162426

ENSMUSG00000039838

UniProt

Q9Y2W3

Q8BIV7

RefSeq (mRNA)

NM_001080397

NM_173774
NM_001355737

RefSeq (protein)
NP_001073866
NP_001366543
NP_001366544
NP_001366545
NP_001366546

NP_001366547

NP_776135
NP_001342666

Location (UCSC)Chr 1: 8.32 – 8.34 MbChr 4: 150.71 – 150.74 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

SLC45A1 is a member of the SLC45 family ofsolute 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 transporterGLUT1(SLC2A1).

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000162426Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000039838Ensembl, 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.
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