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

Gene ID: 65010, updated on 17-Jun-2019

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
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

Genomic context

See SLC26A6 in Genome Data Viewer
Location:
3p21.31
Exon count:
21
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (48625723..48635461, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (48663156..48672926, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ubiquinol-cytochrome c reductase core protein 1 Neighboring gene small nucleolar RNA, H/ACA box 94 Neighboring gene transmembrane protein 89 Neighboring gene microRNA 6824 Neighboring gene cadherin EGF LAG seven-pass G-type receptor 3 Neighboring gene microRNA 4793 Neighboring gene long intergenic non-protein coding RNA 2585 Neighboring gene NCK interacting protein with SH3 domain

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Mineral absorption, organism-specific biosystem (from KEGG)
    Mineral absorption, organism-specific biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
  • Mineral absorption, conserved biosystem (from KEGG)
    Mineral absorption, conserved biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
  • Multifunctional anion exchangers, organism-specific biosystem (from REACTOME)
    Multifunctional anion exchangers, organism-specific biosystemThe human SLC26 gene family consists of eleven members which encode multifunctional anion exchangers.These exchangers are capable of transporting a variety of anions such as sulphate, bicarbonate, ox...
  • SLC-mediated transmembrane transport, organism-specific biosystem (from REACTOME)
    SLC-mediated transmembrane transport, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP-powered pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to power the m...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
  • Transport of inorganic cations/anions and amino acids/oligopeptides, organism-specific biosystem (from REACTOME)
    Transport of inorganic cations/anions and amino acids/oligopeptides, organism-specific biosystemTeleologically, one might argue that inorganic cation and anion transport would be evolutionarily among the oldest transport functions. Eight families comprise the group that transports exclusively i...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: CELSR3

Homology

Clone Names

  • DKFZp586E1422

Gene Ontology Provided by GOA

Function Evidence Code Pubs
PDZ domain binding ISS
Inferred from Sequence or Structural Similarity
more info
 
anion:anion antiporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
anion:anion antiporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
anion:anion antiporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
bicarbonate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bicarbonate transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
bicarbonate transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
chloride channel activity IEA
Inferred from Electronic Annotation
more info
 
chloride transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
chloride transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
efflux transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
formate efflux transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
formate transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
oxalate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxalate transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
secondary active sulfate transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
sulfate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sulfate transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
bicarbonate transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to cAMP ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to fructose stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to interferon-gamma IDA
Inferred from Direct Assay
more info
PubMed 
chloride transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
chloride transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
epithelial fluid transport ISS
Inferred from Sequence or Structural Similarity
more info
 
formate transport ISS
Inferred from Sequence or Structural Similarity
more info
 
intestinal absorption ISS
Inferred from Sequence or Structural Similarity
more info
 
intracellular pH elevation ISS
Inferred from Sequence or Structural Similarity
more info
 
ion transport TAS
Traceable Author Statement
more info
 
mannitol transport ISS
Inferred from Sequence or Structural Similarity
more info
 
oxalate transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
oxalate transport ISS
Inferred from Sequence or Structural Similarity
more info
 
oxalic acid secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of dipeptide transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of intracellular pH IMP
Inferred from Mutant Phenotype
more info
PubMed 
sperm capacitation ISS
Inferred from Sequence or Structural Similarity
more info
 
sulfate transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
sulfate transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
sulfate transport ISS
Inferred from Sequence or Structural Similarity
more info
 
transepithelial chloride transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
transepithelial chloride transport ISS
Inferred from Sequence or Structural Similarity
more info
 
transepithelial transport ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
brush border membrane IDA
Inferred from Direct Assay
more info
PubMed 
chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
sperm midpiece ISS
Inferred from Sequence or Structural Similarity
more info
 
vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
vesicle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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)

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

  1. NG_047183.1 RefSeqGene

    Range
    5001..14771
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001040454.1NP_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:635714
    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:55717
    sulP; high affinity sulphate transporter 1
    cl23746
    Location:278430
    HCO3_cotransp; HCO3- transporter family
  2. NM_001281732.2NP_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:620699
    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:76702
    sulP; high affinity sulphate transporter 1
    cl23746
    Location:263440
    HCO3_cotransp; HCO3- transporter family
  3. NM_001281733.2NP_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:548627
    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:76630
    sulP; high affinity sulphate transporter 1
    cl23746
    Location:192344
    HCO3_cotransp; HCO3- transporter family
  4. NM_022911.3NP_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
    UniProtKB/TrEMBL
    Q9Y3Y1
    Related
    ENSP00000378920.2, ENST00000395550.7
    Conserved Domains (3) summary
    cd07042
    Location:656735
    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:76738
    sulP; high affinity sulphate transporter 1
    cl23746
    Location:299451
    HCO3_cotransp; HCO3- transporter family
  5. NM_134263.3NP_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:655734
    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:76737
    sulP; high affinity sulphate transporter 1
    cl23746
    Location:299451
    HCO3_cotransp; HCO3- transporter family
  6. NM_134426.3NP_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:637716
    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:76719
    sulP; high affinity sulphate transporter 1
    cl23746
    Location:299451
    HCO3_cotransp; HCO3- transporter family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    48625723..48635461 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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