SLC26A1 solute carrier family 26 member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC26A1provided by HGNC
Official Full Name: solute carrier family 26 member 1provided by HGNC
Primary source: HGNC:HGNC:10993
See related: Ensembl:ENSG00000145217 MIM:610130; AllianceGenome:HGNC:10993
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: CAON; EDM4; SAT1; CAON1; SAT-1; HYSULF
Summary: This gene is a member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures, but have markedly different tissue expression patterns. This gene is primarily expressed in the liver, pancreas, and brain. Three splice variants that encode different isoforms have been identified. [provided by RefSeq, Jul 2008]
Expression: Broad expression in kidney (RPKM 6.4), liver (RPKM 1.9) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4p16.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (978991..993404, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (977118..991535, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (972823..987192, complement)

Chromosome 4 - NC_000004.12 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SLC26A1 is a major determinant of sulfate homeostasis in humans.
Title: SLC26A1 is a major determinant of sulfate homeostasis in humans.
SLC26A1 L348P was associated with lower whole-body bone mineral density (BMD) and higher serum calcium, consistent with the osteochondrodysplasia exhibited by dogs and sheep with naturally occurring, homozygous, loss-of-function mutations in Slc13a1
Title: From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases.
Human SLC26A1 resembles SLC26 paralogs in its inhibition.
Title: Extracellular Cl(-) regulates human SO4 (2-)/anion exchanger SLC26A1 by altering pH sensitivity of anion transport.
Mutations in SLC26A1 gene is associated with Nephrolithiasis.
Title: Mutations in SLC26A1 Cause Nephrolithiasis.
Screened the SLC26A1 gene in a cohort of 13 individuals with recurrent calcium oxalate urolithiasis, which is the commonest type. DNA sequence analyses showed missense mutations in seven patients.
Title: Human SLC26A1 gene variants: a pilot study.
SLC26A1 protein,point mutation is highly responsible for the hearing loss of newborns.
Title: Newborn genetic screening for high risk deafness-associated mutations with a new Tetra-primer ARMS PCR kit.
The oxalate precursor glyoxylate was identified as a substrate of sat-1. Upregulated expression of sat-1 mRNA and of sat-1 protein indicates that glyoxylate may be responsible for the elevated oxalate release from hepatocytes observed in hyperoxaluria.
Title: Glyoxylate is a substrate of the sulfate-oxalate exchanger, sat-1, and increases its expression in HepG2 cells.
No mutation was found in the coding regions and intron-exon boundaries of the genes for CA II, CA IV, CA XIV, kNCB1, NHE3, NHE8, NHRF1, NHRF2 and SLC26A6 amplified from genomic DNA of family members with pRTA.
Title: Familial pure proximal renal tubular acidosis--a clinical and genetic study.
Characterization of the SAT1 gene and protein function.
Title: Characterization of the human sulfate anion transporter (hsat-1) protein and gene (SAT1; SLC26A1).
The expression of three messengers coding for SAT-1, SAT-2 and GalNAcT-1 in human samples of intestinal cancer and some cell lines (breast cancer and melanomas), was evaluated.
Title: Evaluation of SAT-1, SAT-2 and GalNAcT-1 mRNA in colon cancer by real-time PCR.

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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

Associated conditions

Description	Tests
Hypersulfaturia MedGen: C5830511 OMIM: 620372 GeneReviews: Not available	not available
Nephrolithiasis susceptibility caused by SLC26A1 MedGen: C5779632 OMIM: 167030 GeneReviews: Not available	not available

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

NoName (e-PCR)
- UniSTS:482580

GDB:375216 (e-PCR)
- UniSTS:157015

GDB:375219 (e-PCR)
- UniSTS:157016

GDB:196305 (e-PCR)
- UniSTS:155820

SLC26A1_1601 (e-PCR)
- UniSTS:277737

SHGC-67289 (e-PCR)
- UniSTS:88812

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables bicarbonate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables chloride transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables chloride 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
enables oxalate transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables solute:inorganic anion antiporter activity	IDA Inferred from Direct Assay more info	PubMed
enables sulfate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables sulfate transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables sulfate transmembrane transporter activity	TAS Traceable Author Statement more info
enables sulfate:bicarbonate antiporter activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in bicarbonate transport	IEA Inferred from Electronic Annotation more info
involved_in chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in oxalate transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in sulfate transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in sulfate transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in sulfate transmembrane transport	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in basolateral plasma membrane	ISS Inferred from Sequence or Structural Similarity 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	TAS Traceable Author Statement more info

General protein information

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Preferred Names: sulfate anion transporter 1

Names: solute carrier family 26 (anion exchanger), member 1; solute carrier family 26 (sulfate transporter), member 1; sulfate anion tranporter AT1; sulfate/anion transporter SAT-1 protein

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_033042.1 RefSeqGene

Range

5033..10780

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_022042.4 → NP_071325.2 sulfate anion transporter 1 isoform a

See identical proteins and their annotated locations for NP_071325.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) lacks an exon in the 5' UTR, as compared to variant 3. Both variants 1 and 3 encode the same isoform (a).

Source sequence(s)

AK292747, AY124771

Consensus CDS

CCDS33934.1

UniProtKB/Swiss-Prot

A8K9N2, Q7Z5R3, Q96BK0, Q9H2B4

Related

ENSP00000381528.2, ENST00000398516.3

Conserved Domains (2) summary

cd07042
Location:528 → 669

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 → 683

sulP; high affinity sulphate transporter 1
NM_134425.4 → NP_602297.1 sulfate anion transporter 1 isoform b

See identical proteins and their annotated locations for NP_602297.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the 5' UTR and has an alternate 3' terminal exon, as compared to variant 3. It encodes isoform b which has a shorter and different C-terminus compared to isoform a.

Source sequence(s)

AC019103, AK292747, BC015517

Consensus CDS

CCDS33933.1

UniProtKB/Swiss-Prot

Q9H2B4

Related

ENSP00000381532.2, ENST00000398520.6

Conserved Domains (1) summary

cl28030
Location:55 → 196

Sulfate_transp; Sulfate permease family
NM_213613.4 → NP_998778.1 sulfate anion transporter 1 isoform a

See identical proteins and their annotated locations for NP_998778.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes the longer isoform (a).

Source sequence(s)

AY124771

Consensus CDS

CCDS33934.1

UniProtKB/Swiss-Prot

A8K9N2, Q7Z5R3, Q96BK0, Q9H2B4

Related

ENSP00000354721.2, ENST00000361661.6

Conserved Domains (2) summary

cd07042
Location:528 → 669

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 → 683

sulP; high affinity sulphate transporter 1