SLC26A8 solute carrier family 26 member 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC26A8provided by HGNC
Official Full Name: solute carrier family 26 member 8provided by HGNC
Primary source: HGNC:HGNC:14468
See related: Ensembl:ENSG00000112053 MIM:608480; AllianceGenome:HGNC:14468
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: AZON; TAT1; SPGF3
Summary: This gene encodes a member of the SLC26 gene family of anion transporters. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. The expression of this gene appears to be restricted to spermatocytes. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2010]
Expression: Restricted expression toward testis (RPKM 27.9) See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.31

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (35943516..36024641, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (35763833..35844951, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (35911293..35992418, complement)

Chromosome 6 - NC_000006.12 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 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?

Novel biallelic mutations in SLC26A8 cause severe asthenozoospermia in humans owing to midpiece defects: Insights into a putative dominant genetic disease.
Title: Novel biallelic mutations in SLC26A8 cause severe asthenozoospermia in humans owing to midpiece defects: Insights into a putative dominant genetic disease.
The heterozygous mutations of SLC26A8 are not the main actors for male infertility.
Title: The heterozygous mutations of SLC26A8 are not the main actors for male infertility.
Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia.
Title: Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia.
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.
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.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Association of genetic variants with chronic kidney disease in individuals with different lipid profiles.
structural defects in sperm are not caused by abnormal transcription or point mutations of the TAT1 and SEPT4 genes; however, although both proteins are expressed, they are not properly localized at sperm annulus
Title: Absence of annulus in human asthenozoospermia: case report.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
SLC26A8 mutations are not a common cause of male infertility.
Title: Mutational analysis of the human SLC26A8 gene: exclusion as a candidate for male infertility due to primary spermatogenic failure.

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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
Spermatogenic failure 3 MedGen: C4721889 OMIM: 606766 GeneReviews: Not available	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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH63736 (e-PCR)
- UniSTS:68368

D10S275 (e-PCR)
- UniSTS:147992

AL024479 (e-PCR)
- UniSTS:3149

D6S1285 (e-PCR)
- UniSTS:54380

SHGC-78735 (e-PCR)
- UniSTS:95597

G42236 (e-PCR)
- UniSTS:93339

SLC26A8_1266 (e-PCR)
- UniSTS:277740

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 channel activity	IDA Inferred from Direct Assay more info	PubMed
enables chloride transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables oxalate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables oxalate transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sulfate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables sulfate transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables sulfate:chloride antiporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in bicarbonate transport	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in chloride transport	IDA Inferred from Direct Assay more info	PubMed
involved_in meiotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in oxalate transport	IDA Inferred from Direct Assay more info	PubMed
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info
involved_in sulfate transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in sulfate transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in sulfate transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
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	PubMed
located_in sperm annulus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: testis anion transporter 1

Names: anion transporter/exchanger-8; solute carrier family 26 (anion exchanger), member 8

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_033897.1 RefSeqGene

Range

4996..86121

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001193476.2 → NP_001180405.1 testis anion transporter 1 isoform a

See identical proteins and their annotated locations for NP_001180405.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 encode the same protein (isoform a).

Source sequence(s)

AF331522, AK122928, AL133507, Z95152

Consensus CDS

CCDS4813.1

UniProtKB/Swiss-Prot

Q5JVR5, Q812C7, Q8TC65, Q96MA0, Q96PK8, Q96RN1

Related

ENSP00000347778.2, ENST00000355574.6

Conserved Domains (3) summary

cd07042
Location:719 → 776

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

pfam00916
Location:92 → 493

Sulfate_transp; Sulfate permease family

cl00604
Location:544 → 584

STAS; Sulphate Transporter and Anti-Sigma factor antagonist domain found in the C-terminal region of sulphate transporters as well as in bacterial and archaeal proteins involved in the regulation of sigma factors
NM_052961.4 → NP_443193.1 testis anion transporter 1 isoform a

See identical proteins and their annotated locations for NP_443193.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 3 encode the same protein.

Source sequence(s)

AF331522, AL133507, Z95152

Consensus CDS

CCDS4813.1

UniProtKB/Swiss-Prot

Q5JVR5, Q812C7, Q8TC65, Q96MA0, Q96PK8, Q96RN1

Related

ENSP00000417638.1, ENST00000490799.6

Conserved Domains (3) summary

cd07042
Location:719 → 776

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

pfam00916
Location:92 → 493

Sulfate_transp; Sulfate permease family

cl00604
Location:544 → 584

STAS; Sulphate Transporter and Anti-Sigma factor antagonist domain found in the C-terminal region of sulphate transporters as well as in bacterial and archaeal proteins involved in the regulation of sigma factors
NM_138718.3 → NP_619732.2 testis anion transporter 1 isoform b

See identical proteins and their annotated locations for NP_619732.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and lacks two exons in the coding region compared to variant 1. The resulting protein (isoform b) is shorter but has the same N- and C-termini compared to isoform a.

Source sequence(s)

AL133507, BC025408, Z95152

Consensus CDS

CCDS4814.1

UniProtKB/Swiss-Prot

Q96RN1

Related

ENSP00000378100.2, ENST00000394602.6

Conserved Domains (3) summary

cd07042
Location:614 → 671

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

pfam00916
Location:92 → 388

Sulfate_transp; Sulfate permease family

cl00604
Location:439 → 479

STAS; Sulphate Transporter and Anti-Sigma factor antagonist domain found in the C-terminal region of sulphate transporters as well as in bacterial and archaeal proteins involved in the regulation of sigma factors

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_000006.12 Reference GRCh38.p14 Primary Assembly

Range

35943516..36024641 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011514294.4 → XP_011512596.1 testis anion transporter 1 isoform X2

Conserved Domains (3) summary

cd07042
Location:693 → 750

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

pfam00916
Location:92 → 467

Sulfate_transp; Sulfate permease family

cl00604
Location:518 → 558

STAS; Sulphate Transporter and Anti-Sigma factor antagonist domain found in the C-terminal region of sulphate transporters as well as in bacterial and archaeal proteins involved in the regulation of sigma factors
XM_017010235.2 → XP_016865724.1 testis anion transporter 1 isoform X1

UniProtKB/Swiss-Prot

Q5JVR5, Q812C7, Q8TC65, Q96MA0, Q96PK8, Q96RN1

Conserved Domains (3) summary

cd07042
Location:719 → 776

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

pfam00916
Location:92 → 493

Sulfate_transp; Sulfate permease family

cl00604
Location:544 → 584

STAS; Sulphate Transporter and Anti-Sigma factor antagonist domain found in the C-terminal region of sulphate transporters as well as in bacterial and archaeal proteins involved in the regulation of sigma factors