Slc17a5 solute carrier family 17 (anion/sugar transporter), member 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc17a5provided by MGI
Official Full Name: solute carrier family 17 (anion/sugar transporter), member 5provided by MGI
Primary source: MGI:MGI:1924105
See related: Ensembl:ENSMUSG00000049624 AllianceGenome:MGI:1924105
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: SD; AST; NSD; SLD; ISSD; VEAT; SIASD; SIALIN; 4732491M05; 4631416G20Rik
Summary: Enables D-glucuronate transmembrane transporter activity. Involved in neurotransmitter loading into synaptic vesicle. Acts upstream of or within response to bacterium. Located in cytoplasmic vesicle and plasma membrane. Is active in glutamatergic synapse; lysosomal membrane; and synaptic vesicle membrane. Is expressed in several structures, including gut; liver; metanephros; nervous system; and sensory organ epithelium. Used to study lysosomal storage disease and sialuria. Human ortholog(s) of this gene implicated in sialuria. Orthologous to human SLC17A5 (solute carrier family 17 member 5). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in kidney adult (RPKM 12.0), genital fat pad adult (RPKM 7.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 E1; 9 43.65 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (78443769..78495346, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (78536487..78588045, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

This study demonstrated that Progressive leukoencephalopathy impairs neurobehavioral development in sialin-deficient mice.
Title: Progressive leukoencephalopathy impairs neurobehavioral development in sialin-deficient mice.
Autophagy regulates the stability of sialin, a lysosomal sialic acid transporter.
Title: Autophagy regulates the stability of sialin, a lysosomal sialic acid transporter.
The uptake of N-acetylaspartylglutamate into synaptic vesicles depends on sialic acid transporter sialin, SLC17A5.
Title: Vesicular uptake of N-acetylaspartylglutamate is catalysed by sialin (SLC17A5).
l-aspartate is exocytotically released from nerve terminals after vesicular accumulation by a transporter other than sialin.
Title: Vesicular uptake and exocytosis of L-aspartate is independent of sialin.
These findings suggest that a defect in maturation of cells in the oligodendrocyte lineage leads to increased apoptosis and underlies the myelination defect associated with sialin loss.
Title: The lysosomal sialic acid transporter sialin is required for normal CNS myelination.
sialin possesses dual physiological functions and acts as a vesicular aspartate/glutamate transporter
Title: Identification of a vesicular aspartate transporter.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (6)
Targeted (1)

General gene information

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Markers

D8Rat22 (e-PCR)
- UniSTS:119090

Slc17a5 (e-PCR), detects polymorphism
- UniSTS:547007

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables D-glucuronate transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables D-glucuronate transmembrane transporter activity	ISO Inferred from Sequence Orthology more info	PubMed
enables sialic acid transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables sialic acid transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables symporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in D-glucuronate transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in amino acid transport	IEA Inferred from Electronic Annotation more info
involved_in neurotransmitter loading into synaptic vesicle	EXP Inferred from Experiment more info	PubMed
involved_in neurotransmitter loading into synaptic vesicle	IDA Inferred from Direct Assay more info	PubMed
involved_in neurotransmitter loading into synaptic vesicle	IEP Inferred from Expression Pattern more info	PubMed
involved_in neurotransmitter loading into synaptic vesicle	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to bacterium	IEP Inferred from Expression Pattern more info	PubMed
involved_in sialic acid transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within sialic acid transport	ISO Inferred from Sequence Orthology more info
involved_in sialic acid transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	EXP Inferred from Experiment more info	PubMed
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IEP Inferred from Expression Pattern more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in lysosomal membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
is_active_in lysosome	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in synaptic vesicle membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: sialin

Names: H(+)/nitrate cotransporter; sodium/sialic acid cotransporter; vesicular H(+)/Aspartate-glutamate cotransporter; vesicular excitatory amino acid transporter

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001276452.1 → NP_001263381.1 sialin isoform b

See identical proteins and their annotated locations for NP_001263381.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. It encodes isoform b which is shorter than isoform a.

Source sequence(s)

AC159883, BC058785, BE630039

Consensus CDS

CCDS72283.1

UniProtKB/Swiss-Prot

Q8BN82

Related

ENSMUSP00000113003.2, ENSMUST00000117645.8

Conserved Domains (2) summary

cd06174
Location:98 → 452

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

TIGR00894
Location:30 → 465

2A0114euk; Na(+)-dependent inorganic phosphate cotransporter
NM_172773.3 → NP_766361.1 sialin isoform a

See identical proteins and their annotated locations for NP_766361.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AC159883, AK029102, BE630039

Consensus CDS

CCDS23364.1

UniProtKB/Swiss-Prot

Q3TE25, Q8BN82

Related

ENSMUSP00000056182.6, ENSMUST00000052441.12

Conserved Domains (2) summary

cd06174
Location:99 → 478

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

TIGR00894
Location:30 → 491

2A0114euk; Na(+)-dependent inorganic phosphate cotransporter

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000075.7 Reference GRCm39 C57BL/6J

Range

78443769..78495346 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036154911.1 → XP_036010804.1 sialin isoform X2

Conserved Domains (1) summary

cl28910
Location:42 → 373

MFS; Major Facilitator Superfamily
XM_011242737.3 → XP_011241039.1 sialin isoform X3

Conserved Domains (1) summary

cl28910
Location:1 → 297

MFS; Major Facilitator Superfamily
XM_017313345.2 → XP_017168834.1 sialin isoform X3

Conserved Domains (1) summary

cl28910
Location:1 → 297

MFS; Major Facilitator Superfamily
XM_006511128.5 → XP_006511191.1 sialin isoform X1

Conserved Domains (1) summary

cd17381
Location:19 → 455

MFS_SLC17A5; Solute carrier family 17 member 5 (also called sialin) of the Major Facilitator Superfamily of transporters