SLC26A6 solute carrier family 26 member 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC26A6provided by HGNC
Official Full Name: solute carrier family 26 member 6provided by HGNC
Primary source: HGNC:HGNC:14472
See related: Ensembl:ENSG00000225697 MIM:610068; AllianceGenome:HGNC:14472
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
Summary: This gene belongs to the solute carrier 26 family, whose members encode anion transporter proteins. This particular family member encodes a protein involved in transporting chloride, oxalate, sulfate and bicarbonate. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Aug 2013]
Expression: Ubiquitous expression in colon (RPKM 11.7), bone marrow (RPKM 8.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p21.31

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (48625723..48635461, complement)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (48654683..48664421, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (48663156..48672894, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Up-Regulation of SLC26A6 in Hepatocellular Carcinoma and Its Diagnostic and Prognostic Significance.
Title: Up-Regulation of SLC26A6 in Hepatocellular Carcinoma and Its Diagnostic and Prognostic Significance.
Characterization of pendrin in urinary extracellular vesicles in a rat model of aldosterone excess and in human primary aldosteronism.
Title: Characterization of pendrin in urinary extracellular vesicles in a rat model of aldosterone excess and in human primary aldosteronism.
SLC26A6 and NADC1: Future direction of nephrolithiasis and calculusrelated hypertension research (Review).
Title: SLC26A6 and NADC‑1: Future direction of nephrolithiasis and calculus‑related hypertension research (Review).
TNFalpha and IL-17 alkalinize airway surface liquid through CFTR and pendrin.
Title: TNFα and IL-17 alkalinize airway surface liquid through CFTR and pendrin.
Novel SLC26A6 gene polymorphism rs184187143 is associated with diabetic ketoacidosis of gestational diabetes.
Title: Novel SLC26A6 gene polymorphism rs184187143 is associated with diabetic ketoacidosis of gestational diabetes.
In colonic epithelial cells, microRNA-125a-5p can modulate PAT-1 expression posttranscriptionally via mRNA degradation.
Title: miR-125a-5p: a novel regulator of SLC26A6 expression in intestinal epithelial cells.
pendrin mediates most HCO3(-) secretion across airway surface epithelium during inflammation and enhances electrogenic chloride secretion via CFTR.
Title: Pendrin Mediates Bicarbonate Secretion and Enhances Cystic Fibrosis Transmembrane Conductance Regulator Function in Airway Surface Epithelia.
ADO inhibits oxalate transport by reducing PAT1 surface expression as shown by biotinylation studies. We conclude that ADO inhibits oxalate transport by lowering PAT1 surface expression in C2 cells through signaling pathways including the A2B AR, PKC, and phospholipase C
Title: Adenosinergic signaling inhibits oxalate transport by human intestinal Caco2-BBE cells through the A(2B) adenosine receptor.
IL13 increases pendrin abundance to the cell surface via Rho/actin signaling, an effect reversed by theophylline.
Title: Interleukin-13 increases pendrin abundance to the cell surface in bronchial NCI-H292 cells via Rho/actin signaling.
Results indicate that the variant G539R in the SLC26A6 gene is associated with kidney stone risk, providing a clear clue to further achieve insight into oxalate transport in kidney stone formation.
Title: In Silico Screening and Molecular Dynamic Study of Nonsynonymous Single Nucleotide Polymorphisms Associated with Kidney Stones in the SLC26A6 Gene.

Submit: New GeneRIF Correction See all GeneRIFs (29)

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

MARC_2903-2904:991933693:1 (e-PCR)
- UniSTS:230975

D3S4222 (e-PCR)
- UniSTS:53178

RH102367 (e-PCR)
- UniSTS:96701

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables PDZ domain binding	ISS Inferred from Sequence or Structural Similarity more info
enables bicarbonate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables chloride channel activity	IEA Inferred from Electronic Annotation more info
enables chloride transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables chloride:bicarbonate antiporter activity	IDA Inferred from Direct Assay more info	PubMed
enables efflux transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables formate transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables oxalate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables secondary active sulfate transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
enables solute:inorganic anion antiporter activity	IDA Inferred from Direct Assay more info	PubMed
enables solute:inorganic anion antiporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables solute:inorganic anion antiporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables solute:inorganic anion antiporter activity	TAS Traceable Author Statement more info
enables sulfate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in bicarbonate transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to cAMP	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to fructose stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to type II interferon	IDA Inferred from Direct Assay more info	PubMed
involved_in chloride transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in chloride transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epithelial fluid transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in estrous cycle	IEA Inferred from Electronic Annotation more info
involved_in formate transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in intestinal absorption	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular pH elevation	ISS Inferred from Sequence or Structural Similarity more info
involved_in mannitol transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in monoatomic ion transport	TAS Traceable Author Statement more info
involved_in oxalate transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in oxalate transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in oxalic acid secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of dipeptide transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of intracellular pH	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sperm capacitation	ISS Inferred from Sequence or Structural Similarity more info
involved_in sulfate transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in sulfate transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sulfate transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in transepithelial chloride transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transepithelial chloride transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in transepithelial transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in brush border membrane	IDA Inferred from Direct Assay more info	PubMed
part_of chloride channel complex	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in sperm midpiece	ISS Inferred from Sequence or Structural Similarity more info
located_in vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in vesicle membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: solute carrier family 26 member 6

Names: anion exchange transporter; anion transporter 1; pendrin L1; solute carrier family 26 (anion exchanger), member 6; sulfate anion 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_047183.1 RefSeqGene

Range

5033..14771

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001040454.1 → NP_001035544.1 solute carrier family 26 member 6 isoform 4

See identical proteins and their annotated locations for NP_001035544.1

Status: REVIEWED

Description

Transcript Variant: This variant (4), also known as S+Q, contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (4) has a shorter N-terminus when compared to isoform 1.

Source sequence(s)

AF279265, AL050170

Consensus CDS

CCDS46826.1

UniProtKB/Swiss-Prot

Q9BXS9

UniProtKB/TrEMBL

A0A0C4DFT5, Q9Y3Y1

Related

ENSP00000351597.6, ENST00000358747.10

Conserved Domains (3) summary

cd07042
Location:635 → 714

STAS_SulP_like_sulfate_transporter; Sulphate Transporter and Anti-Sigma factor antagonist domain of SulP-like sulfate transporters, plays a role in the function and regulation of the transport activity, proposed general NTP binding function

TIGR00815
Location:55 → 717

sulP; high affinity sulphate transporter 1

cl23746
Location:278 → 430

HCO3_cotransp; HCO3- transporter family
NM_001281732.2 → NP_001268661.1 solute carrier family 26 member 6 isoform 5

See identical proteins and their annotated locations for NP_001268661.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) has multiple difference in the coding region compared to variant 1. The resulting protein (isoform 5) is shorter but has the same N- and C-termini compared to isoform 1.

Source sequence(s)

AK056237, AK297695, AL050170

Consensus CDS

CCDS63628.1

UniProtKB/Swiss-Prot

Q9BXS9

UniProtKB/TrEMBL

Q96MZ1, Q9Y3Y1

Related

ENSP00000401066.2, ENST00000455886.6

Conserved Domains (3) summary

cd07042
Location:620 → 699

STAS_SulP_like_sulfate_transporter; Sulphate Transporter and Anti-Sigma factor antagonist domain of SulP-like sulfate transporters, plays a role in the function and regulation of the transport activity, proposed general NTP binding function

TIGR00815
Location:76 → 702

sulP; high affinity sulphate transporter 1

cl23746
Location:263 → 440

HCO3_cotransp; HCO3- transporter family
NM_001281733.2 → NP_001268662.1 solute carrier family 26 member 6 isoform 6

See identical proteins and their annotated locations for NP_001268662.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) has multiple difference in the coding region compared to variant 1. The resulting protein (isoform 6) is shorter but has the same N- and C-termini compared to isoform 1.

Source sequence(s)

AK056237, AK297695, AL050170

Consensus CDS

CCDS63627.1

UniProtKB/Swiss-Prot

Q9BXS9

UniProtKB/TrEMBL

G3XAC1, Q96MZ1, Q9Y3Y1

Related

ENSP00000337648.8, ENST00000337000.12

Conserved Domains (3) summary

cd07042
Location:548 → 627

STAS_SulP_like_sulfate_transporter; Sulphate Transporter and Anti-Sigma factor antagonist domain of SulP-like sulfate transporters, plays a role in the function and regulation of the transport activity, proposed general NTP binding function

TIGR00815
Location:76 → 630

sulP; high affinity sulphate transporter 1

cl23746
Location:192 → 344

HCO3_cotransp; HCO3- transporter family
NM_022911.3 → NP_075062.2 solute carrier family 26 member 6 isoform 1

See identical proteins and their annotated locations for NP_075062.2

Status: REVIEWED

Description

Transcript Variant: This variant (1), also known as L+Q, encodes the longest isoform (1).

Source sequence(s)

AF288410, AL050170, DA702248

Consensus CDS

CCDS43087.1

UniProtKB/Swiss-Prot

Q9BXS9, Q9NQU1

UniProtKB/TrEMBL

Q9Y3Y1

Related

ENSP00000378920.2, ENST00000395550.7

Conserved Domains (3) summary

cd07042
Location:656 → 735

STAS_SulP_like_sulfate_transporter; Sulphate Transporter and Anti-Sigma factor antagonist domain of SulP-like sulfate transporters, plays a role in the function and regulation of the transport activity, proposed general NTP binding function

TIGR00815
Location:76 → 738

sulP; high affinity sulphate transporter 1

cl23746
Location:299 → 451

HCO3_cotransp; HCO3- transporter family
NM_134263.3 → NP_599025.2 solute carrier family 26 member 6 isoform 2

See identical proteins and their annotated locations for NP_599025.2

Status: REVIEWED

Description

Transcript Variant: This variant (2), also known as L-Q, uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a protein (isoform 2) that differs from isoform 1 by a single glutamine (Q) residue.

Source sequence(s)

AF416721, AL050170, DA702248

Consensus CDS

CCDS46825.1

UniProtKB/Swiss-Prot

Q9BXS9

UniProtKB/TrEMBL

Q9Y3Y1

Related

ENSP00000404684.2, ENST00000420764.6

Conserved Domains (3) summary

cd07042
Location:655 → 734

STAS_SulP_like_sulfate_transporter; Sulphate Transporter and Anti-Sigma factor antagonist domain of SulP-like sulfate transporters, plays a role in the function and regulation of the transport activity, proposed general NTP binding function

TIGR00815
Location:76 → 737

sulP; high affinity sulphate transporter 1

cl23746
Location:299 → 451

HCO3_cotransp; HCO3- transporter family
NM_134426.3 → NP_602298.2 solute carrier family 26 member 6 isoform 3

See identical proteins and their annotated locations for NP_602298.2

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon and uses alternate splice sites for the flanking exons, compared to variant 1. The resulting protein (isoform 3) is shorter and has a unique internal segment, compared to isoform 1.

Source sequence(s)

AB033288, AL050170, DA702248

Consensus CDS

CCDS46824.1

UniProtKB/Swiss-Prot

Q9BXS9

UniProtKB/TrEMBL

Q9Y3Y1

Related

ENSP00000373239.3, ENST00000383733.7

Conserved Domains (3) summary

cd07042
Location:637 → 716

STAS_SulP_like_sulfate_transporter; Sulphate Transporter and Anti-Sigma factor antagonist domain of SulP-like sulfate transporters, plays a role in the function and regulation of the transport activity, proposed general NTP binding function

TIGR00815
Location:76 → 719

sulP; high affinity sulphate transporter 1

cl23746
Location:299 → 451

HCO3_cotransp; HCO3- transporter family