SLC13A4 solute carrier family 13 member 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC13A4provided by HGNC
Official Full Name: solute carrier family 13 member 4provided by HGNC
Primary source: HGNC:HGNC:15827
See related: Ensembl:ENSG00000164707 MIM:604309; AllianceGenome:HGNC:15827
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NAS2; SUT1; SUT-1
Summary: Enables sodium:sulfate symporter activity. Predicted to be involved in transmembrane transport. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in placenta (RPKM 28.4) and testis (RPKM 3.0) See more
Orthologs: mouse all
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Genomic context

Location:: 7q33

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (135681231..135728186, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (136988529..137035495, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (135365979..135412934, complement)

Chromosome 7 - NC_000007.14 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 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?

SLC13A4 Might Serve as a Prognostic Biomarker and be Correlated with Immune Infiltration into Head and Neck Squamous Cell Carcinoma.
Title: SLC13A4 Might Serve as a Prognostic Biomarker and be Correlated with Immune Infiltration into Head and Neck Squamous Cell Carcinoma.
Study found that despite differential expression of the two SLC13A4 transcripts, no detectable functional difference in the cellular sorting or sulfate transporting was found. However, some variants can influence both mechanism in specific cell membranes. This is like to have clinical implications based on the consequences of impaired sulfate transport during pregnancy in rodent models.
Title: Molecular analysis of sequence and splice variants of the human SLC13A4 sulfate transporter.
SLC13A4 and SLC26A2 were the most abundant sulfate transporter mRNAs, which localized to syncytiotrophoblast and cytotrophoblast cells, respectively.
Title: Human placental sulfate transporter mRNA profiling from term pregnancies identifies abundant SLC13A4 in syncytiotrophoblasts and SLC26A2 in cytotrophoblasts.
To investigate the regulation of SLC13A4 gene expression, we analysed the transcriptional activity of the SLC13A4 5'-flanking region in the JEG-3 placental cell line using luciferase reporter assays.
Title: Molecular analysis of the human SLC13A4 sulfate transporter gene promoter.
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.
Here, we characterized the functional properties of the human Na(+)-sulfate cotransporter (hNaS2), determined its tissue distribution, and identified its gene (SLC13A4) structure.
Title: Functional characterization and genomic organization of the human Na(+)-sulfate cotransporter hNaS2 gene (SLC13A4).

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH92554 (e-PCR)
- UniSTS:91681

D7S2867 (e-PCR)
- UniSTS:76073

D7S2118E (e-PCR)
- UniSTS:54068

SHGC-67307 (e-PCR)
- UniSTS:89991

RH46984 (e-PCR)
- UniSTS:22921

G32281 (e-PCR)
- UniSTS:116878

A005R34 (e-PCR)
- UniSTS:36242

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sodium:sulfate symporter activity	IDA Inferred from Direct Assay more info	PubMed
enables sodium:sulfate symporter activity	TAS Traceable Author Statement more info
enables transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in sodium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in sulfate transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in sulfate transmembrane transport	TAS Traceable Author Statement more info	PubMed
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: solute carrier family 13 member 4

Names: Na(+)/sulfate cotransporter SUT-1; solute carrier family 13 (sodium/sulfate symporter), member 4; solute carrier family 13 (sodium/sulfate symporters), member 4; solute carrier family 13 (sodium/sulphate symporters), member 4; sulphate transporter 1

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_001318192.2 → NP_001305121.1 solute carrier family 13 member 4 isoform 1

Status: VALIDATED

Description

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

Source sequence(s)

AB208809, AC091736, AF169301, BC030689

Consensus CDS

CCDS94210.1

UniProtKB/TrEMBL

A0A804HKQ4, A0AAQ5BH36, V9GYC7, V9GZ66

Related

ENSP00000508027.1, ENST00000682651.1

Conserved Domains (2) summary

cd01115
Location:38 → 605

SLC13_permease; Permease SLC13 (solute carrier 13). The sodium/dicarboxylate cotransporter NaDC-1 has been shown to translocate Krebs cycle intermediates such as succinate, citrate, and alpha-ketoglutarate across plasma membranes rabbit, human, and rat kidney. It is ...

TIGR00785
Location:40 → 604

dass; anion transporter
NM_012450.4 → NP_036582.2 solute carrier family 13 member 4 isoform 2

See identical proteins and their annotated locations for NP_036582.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AB208809, AC091736, AF169301, BC030689

Consensus CDS

CCDS5840.1

UniProtKB/Swiss-Prot

A4D1Q4, Q8N631, Q9UKG4

UniProtKB/TrEMBL

A0AAQ5BH36

Related

ENSP00000297282.5, ENST00000354042.8

Conserved Domains (1) summary

cd01115
Location:38 → 604

SLC13_permease; Permease SLC13 (solute carrier 13). The sodium/dicarboxylate cotransporter NaDC-1 has been shown to translocate Krebs cycle intermediates such as succinate, citrate, and alpha-ketoglutarate across plasma membranes rabbit, human, and rat kidney. It is ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

135681231..135728186 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047420184.1 → XP_047276140.1 solute carrier family 13 member 4 isoform X2
XM_011516024.4 → XP_011514326.1 solute carrier family 13 member 4 isoform X1

See identical proteins and their annotated locations for XP_011514326.1

UniProtKB/TrEMBL

A0AAQ5BH36

Conserved Domains (1) summary

cl21473
Location:32 → 570

ArsB_NhaD_permease; Anion permease ArsB/NhaD. These permeases have been shown to translocate sodium, arsenate, antimonite, sulfate and organic anions across biological membranes in all three kingdoms of life. A typical anion permease contains 8-13 transmembrane helices ...
XM_017011962.2 → XP_016867451.1 solute carrier family 13 member 4 isoform X3