SLC17A5 solute carrier family 17 member 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC17A5provided by HGNC
Official Full Name: solute carrier family 17 member 5provided by HGNC
Primary source: HGNC:HGNC:10933
See related: Ensembl:ENSG00000119899 MIM:604322; AllianceGenome:HGNC:10933
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SD; AST; NSD; SLD; ISSD; VEAT; SIASD; SIALIN
Summary: This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 24.0), kidney (RPKM 11.9) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q13

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (73593379..73653992, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (74770746..74832087, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (74303102..74363715, complement)

Chromosome 6 - NC_000006.12 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Serum alanine transaminase is predictive of fasting and postprandial insulin and glucagon concentrations in type 2 diabetes.
Title: Serum alanine transaminase is predictive of fasting and postprandial insulin and glucagon concentrations in type 2 diabetes.
study describes a novel pathogenic variant in SLC17A5, namely an intronic transposal insertion, in a patient with mild biochemical and clinical phenotypes. The presence of a small fraction of normal transcript may explain the mild phenotype. This case illustrates the importance of including lysosomal sialic acid storage disease in the differential diagnosis of developmental delay with postnatal onset and hypomyelination.
Title: Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.
Elevated levels of AST are Associated with Cardiovascular disease.
Title: Association of the Aspartate Aminotransferase to Alanine Aminotransferase Ratio with BNP Level and Cardiovascular Mortality in the General Population: The Yamagata Study 10-Year Follow-Up.
These data demonstrate that sialin mediates nitrate influx into salivary gland and other cell types.
Title: Sialin (SLC17A5) functions as a nitrate transporter in the plasma membrane.
the substrate-binding site of sialin (SLC17A5)
Title: Successful prediction of substrate-binding pocket in SLC17 transporter sialin.
Human SLC17A5 carrying mutations that causes both phenotypes of Salla disease and mutations that cause infantile sialic acid storage disease showed no transport activity
Title: Functional characterization of vesicular excitatory amino acid transport by human sialin.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
analysis of crucial residues and substrate-induced conformational changes in SLC17 transporter sialin
Title: Structure-function studies of the SLC17 transporter sialin identify crucial residues and substrate-induced conformational changes.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Salla disease MedGen: C1096903 OMIM: 604369 GeneReviews: Free Sialic Acid Storage Disorders	Compare labs
Sialic acid storage disease, severe infantile type MedGen: C1096902 OMIM: 269920 GeneReviews: Free Sialic Acid Storage Disorders	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	FITC-labeled Tat 47-59 peptide upregulates gene expression of solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5) in U-937 macrophages	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D15S1477 (e-PCR)
- UniSTS:474482

STS-N21319 (e-PCR)
- UniSTS:52345

RH45718 (e-PCR)
- UniSTS:38547

SLC17A5_400 (e-PCR)
- UniSTS:277723

RH99262 (e-PCR)
- UniSTS:86760

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables D-glucuronate transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
enables carbohydrate:proton symporter activity	TAS Traceable Author Statement more info	PubMed
enables sialic acid transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables sialic acid transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables sialic acid:proton symporter activity	TAS Traceable Author Statement 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 carbohydrate transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic anion transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic ion transport	TAS Traceable Author Statement more info
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in response to bacterium	IEA Inferred from Electronic Annotation more info
involved_in sialic acid transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within sialic acid transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in lysosomal membrane	HDA more info	PubMed
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	TAS Traceable Author Statement more info
is_active_in lysosome	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: sialin

Names: H(+)/nitrate cotransporter; H(+)/sialic acid cotransporter; acidic sugar transporter; infantile sialic acid storage disorder; membrane glycoprotein HP59; sialic acid storage disease; sodium/sialic acid cotransporter; solute carrier family 17 (acidic sugar transporter), member 5; solute carrier family 17 (anion/sugar transporter), member 5; 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.

Genomic

NG_008272.1 RefSeqGene

Range

5023..65636

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001382629.1 → NP_001369558.1 sialin isoform 2

Status: REVIEWED

Source sequence(s)

AL121972, AL590428

UniProtKB/TrEMBL

B2RE38

Conserved Domains (1) summary

cd17381
Location:14 → 401

MFS_SLC17A5; Solute carrier family 17 member 5 (also called sialin) of the Major Facilitator Superfamily of transporters
NM_001382630.1 → NP_001369559.1 sialin isoform 3

Status: REVIEWED

Source sequence(s)

AL121972, AL590428

UniProtKB/TrEMBL

B2RE38

Conserved Domains (1) summary

cd17381
Location:42 → 420

MFS_SLC17A5; Solute carrier family 17 member 5 (also called sialin) of the Major Facilitator Superfamily of transporters
NM_001382631.1 → NP_001369560.1 sialin isoform 4

Status: REVIEWED

Source sequence(s)

AL121972, AL590428

UniProtKB/TrEMBL

B2RE38

Conserved Domains (1) summary

cd17381
Location:49 → 485

MFS_SLC17A5; Solute carrier family 17 member 5 (also called sialin) of the Major Facilitator Superfamily of transporters
NM_001382632.1 → NP_001369561.1 sialin isoform 5

Status: REVIEWED

Source sequence(s)

AL121972, AL590428

UniProtKB/TrEMBL

B2RE38

Conserved Domains (1) summary

cd17381
Location:42 → 449

MFS_SLC17A5; Solute carrier family 17 member 5 (also called sialin) of the Major Facilitator Superfamily of transporters
NM_001382633.1 → NP_001369562.1 sialin isoform 6

Status: REVIEWED

Source sequence(s)

AL121972, AL590428

UniProtKB/TrEMBL

B2RE38

Conserved Domains (1) summary

cd17381
Location:42 → 458

MFS_SLC17A5; Solute carrier family 17 member 5 (also called sialin) of the Major Facilitator Superfamily of transporters
NM_001382634.1 → NP_001369563.1 sialin isoform 7

Status: REVIEWED

Source sequence(s)

AL121972, AL590428

UniProtKB/TrEMBL

B2RE38
NM_001382635.1 → NP_001369564.1 sialin isoform 8

Status: REVIEWED

Source sequence(s)

AL121972, AL590428

UniProtKB/TrEMBL

B2RE38

Conserved Domains (1) summary

cd17381
Location:42 → 477

MFS_SLC17A5; Solute carrier family 17 member 5 (also called sialin) of the Major Facilitator Superfamily of transporters
NM_001382636.1 → NP_001369565.1 sialin isoform 9

Status: REVIEWED

Source sequence(s)

AL121972, AL590428

Conserved Domains (1) summary

cl28910
Location:14 → 372

MFS; Major Facilitator Superfamily
NM_012434.5 → NP_036566.1 sialin isoform 1

See identical proteins and their annotated locations for NP_036566.1

Status: REVIEWED

Source sequence(s)

AK026921, BC020961, BP288187

Consensus CDS

CCDS4981.1

UniProtKB/Swiss-Prot

Q5SZ76, Q8NBR5, Q9NRA2, Q9UGH0

UniProtKB/TrEMBL

B2RE38

Related

ENSP00000348019.5, ENST00000355773.6

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