Q96RN1 (S26A8_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 94.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Testis anion transporter 1 Alternative name(s): Anion exchange transporter Solute carrier family 26 member 8 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 970 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Acts as a DIDS-sensitive anion exchanger mediating chloride, sulfate and oxalate transport. May fulfill critical anion exchange functions in male germ line during meiosis and hence may play a role in spermatogenesis. May be involved in a new regulatory pathway linking sulfate transport to RhoGTPase signaling in male germ cells. A critical component of the sperm annulus that is essential for correct sperm tail differentiation and motility and hence male fertility. Ref.1 Ref.2 Ref.8 UniProtKB Q8R0C3 |
| Enzyme regulation | Activity is inhibited by 4,4'-Di-isothiocyanatostilbene-2,2'-disulfonic acid (DIDS - an inhibitor of several anion channels and transporters), gluconate, and by thiosulfate. |
| Subunit structure | Interacts with RACGAP1. Ref.1 |
| Subcellular location | Membrane; Multi-pass membrane protein. Note: Located at the annulus ring structure within the sperm cell. Ref.1 Ref.9 |
| Tissue specificity | Expression observed exclusively in testis, restricted to the meiotic phase of the germ cell. Abundant expression located in the seminiferous tubules, concentrated on the luminal side of the tubuli harboring the spermatocytes and spermatids. Expressed in spermatozoa. Ref.1 Ref.2 Ref.8 |
| Induction | Repressed by tunicamycin, an inhibitor of N-glycosylation. Ref.1 |
| Post-translational modification | N-glycosylated. Ref.1 |
| Sequence similarities | Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. [View classification] Contains 1 STAS domain. |
| Sequence caution | The sequence AAO26699.1 differs from that shown. Reason: Incorrectly indicated as originating from mouse. The sequence BAB71408.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| CFTR | P13569 | 2 | EBI-1792052,EBI-349854 | |
| RACGAP1 | Q9H0H5 | 2 | EBI-1792052,EBI-717233 |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 Ref.1 Ref.3 Ref.8 (identifier: Q96RN1-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 Ref.6 (identifier: Q96RN1-2) The sequence of this isoform differs from the canonical sequence as follows: 210-314: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 Ref.6 (identifier: Q96RN1-3) The sequence of this isoform differs from the canonical sequence as follows: 2-419: Missing. 420-428: IQDKSGGRQ → VSLQLALSP | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 Ref.9 (identifier: Q96RN1-4) The sequence of this isoform differs from the canonical sequence as follows: 745-768: ICNAFQNANILILIAGCHSSIVRA → VSTEEALAGALIPLLPSQPHPDPD 769-970: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 970 | 970 | Testis anion transporter 1 | PRO_0000322586 | |||||
Regions | |||||||||
| Topological domain | 1 – 95 | 95 | Cytoplasmic Potential | ||||||
| Transmembrane | 96 – 116 | 21 | Helical; Potential | ||||||
| Topological domain | 117 – 119 | 3 | Extracellular Potential | ||||||
| Transmembrane | 120 – 140 | 21 | Helical; Potential | ||||||
| Topological domain | 141 – 146 | 6 | Cytoplasmic Potential | ||||||
| Transmembrane | 147 – 167 | 21 | Helical; Potential | ||||||
| Topological domain | 168 – 202 | 35 | Extracellular Potential | ||||||
| Transmembrane | 203 – 223 | 21 | Helical; Potential | ||||||
| Topological domain | 224 – 232 | 9 | Cytoplasmic Potential | ||||||
| Transmembrane | 233 – 253 | 21 | Helical; Potential | ||||||
| Topological domain | 254 – 270 | 17 | Extracellular Potential | ||||||
| Transmembrane | 271 – 291 | 21 | Helical; Potential | ||||||
| Topological domain | 292 – 307 | 16 | Cytoplasmic Potential | ||||||
| Transmembrane | 308 – 328 | 21 | Helical; Potential | ||||||
| Topological domain | 329 – 355 | 27 | Extracellular Potential | ||||||
| Transmembrane | 356 – 376 | 21 | Helical; Potential | ||||||
| Topological domain | 377 – 392 | 16 | Cytoplasmic Potential | ||||||
| Transmembrane | 393 – 413 | 21 | Helical; Potential | ||||||
| Topological domain | 414 – 429 | 16 | Extracellular Potential | ||||||
| Transmembrane | 430 – 450 | 21 | Helical; Potential | ||||||
| Topological domain | 451 – 452 | 2 | Cytoplasmic Potential | ||||||
| Transmembrane | 453 – 473 | 21 | Helical; Potential | ||||||
| Topological domain | 474 – 497 | 24 | Extracellular Potential | ||||||
| Transmembrane | 498 – 518 | 21 | Helical; Potential | ||||||
| Topological domain | 519 – 970 | 452 | Cytoplasmic Potential | ||||||
| Domain | 543 – 795 | 253 | STAS | ||||||
| Region | 664 – 970 | 307 | Interaction with RACGAP1 Ref.1 | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 192 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 2 – 419 | 418 | Missing in isoform 3. Ref.6 | VSP_052704 | |||||
| Alternative sequence | 210 – 314 | 105 | Missing in isoform 2. Ref.6 | VSP_052705 | |||||
| Alternative sequence | 420 – 428 | 9 | IQDKSGGRQ → VSLQLALSP in isoform 3. Ref.6 | VSP_052706 | |||||
| Alternative sequence | 745 – 768 | 24 | ICNAF…SIVRA → VSTEEALAGALIPLLPSQPH PDPD in isoform 4. Ref.9 | VSP_052707 | |||||
| Alternative sequence | 769 – 970 | 202 | Missing in isoform 4. Ref.9 | VSP_052708 | |||||
| Natural variant | 73 | 1 | V → M Not a cause of male infertility. Ref.1 Ref.3 Ref.6 Ref.8 Corresponds to variant rs743923 [ dbSNP | Ensembl ]. | VAR_039464 | |||||
| Natural variant | 148 | 1 | I → V Not a cause of male infertility. Ref.3 Ref.8 Corresponds to variant rs17713154 [ dbSNP | Ensembl ]. | VAR_039465 | |||||
| Natural variant | 230 | 1 | S → N Not a cause of male infertility. Ref.3 Ref.8 Corresponds to variant rs17707331 [ dbSNP | Ensembl ]. | VAR_039466 | |||||
| Natural variant | 639 | 1 | I → V Not a cause of male infertility. Ref.1 Ref.3 Ref.6 Ref.8 Corresponds to variant rs2295852 [ dbSNP | Ensembl ]. | VAR_039467 | |||||
Experimental info | |||||||||
| Mutagenesis | 914 | 1 | P → S: Not a cause of male infertility. Ref.8 | ||||||
| Sequence conflict | 168 | 1 | N → D in AAL26868. Ref.3 | ||||||
| Sequence conflict | 168 | 1 | N → D in AAO26699. Ref.3 | ||||||
| Sequence conflict | 560 | 1 | S → C in AAL26868. Ref.3 | ||||||
| Sequence conflict | 560 | 1 | S → C in AAO26699. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Tat1, a novel sulfate transporter specifically expressed in human male germ cells and potentially linked to rhogtpase signaling." Toure A., Morin L., Pineau C., Becq F., Dorseuil O., Gacon G. J. Biol. Chem. 276:20309-20315(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, INTERACTION WITH RACGAP1, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INDUCTION, GLYCOSYLATION, VARIANT MET-73. Tissue: Testis. |
| [2] | "Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9." Lohi H., Kujala M., Maekelae S., Lehtonen E., Kestilae M., Saarialho-Kere U., Markovich D., Kere J. J. Biol. Chem. 277:14246-14254(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, INHIBITION. |
| [3] | "Cloning of human SLC26A8, a new member of the sulphate transporter gene family of anion transporter/exchangers." Mount D.B. Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS MET-73; VAL-148; ASN-230 AND VAL-639. |
| [4] | "The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. Beck S.Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANTS MET-73 AND VAL-639. Tissue: Testis. |
| [7] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 450-768 (ISOFORM 4). Tissue: Testis. |
| [8] | "Mutational analysis of the human SLC26A8 gene: exclusion as a candidate for male infertility due to primary spermatogenic failure." Makela S., Eklund R., Lahdetie J., Mikkola M., Hovatta O., Kere J. Mol. Hum. Reprod. 11:129-132(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MET-73; VAL-148; ASN-230 AND VAL-639, MUTAGENESIS OF PRO-914. |
| [9] | "The testis anion transporter 1 (Slc26a8) is required for sperm terminal differentiation and male fertility in the mouse." Toure A., Lhuillier P., Gossen J.A., Kuil C.W., Lhote D., Jegou B., Escalier D., Gacon G. Hum. Mol. Genet. 16:1783-1793(2007) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF331522 mRNA. Translation: AAK95666.1. AF314959 mRNA. Translation: AAL26868.1. AF403499 mRNA. Translation: AAO26699.1. AL133507, Z95152 Genomic DNA. Translation: CAI40884.1. Z95152, AL133507 Genomic DNA. Translation: CAI19692.1. AL133507 Genomic DNA. Translation: CAI40882.1. CH471081 Genomic DNA. Translation: EAX03862.1. BC025408 mRNA. Translation: AAH25408.1. AK057276 mRNA. Translation: BAB71408.1. Different initiation. |
| IPI | IPI00066333. IPI00290911. IPI00885155. IPI00885156. |
| RefSeq | NP_001180405.1. NM_001193476.1. NP_443193.1. NM_052961.3. NP_619732.2. NM_138718.2. |
| UniGene | Hs.435836. |
3D structure databases | |
| ProteinModelPortal | Q96RN1. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q96RN1. 2 interactions. |
| STRING | 9606.ENSP00000347778. |
PTM databases | |
| PhosphoSite | Q96RN1. |
Polymorphism databases | |
| DMDM | 74761075. |
Proteomic databases | |
| PaxDb | Q96RN1. |
| PRIDE | Q96RN1. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000355574; ENSP00000347778; ENSG00000112053. ENST00000394602; ENSP00000378100; ENSG00000112053. ENST00000490799; ENSP00000417638; ENSG00000112053. |
| GeneID | 116369. |
| KEGG | hsa:116369. |
| UCSC | uc003olk.3. human. uc003oll.3. human. uc003olm.3. human. |
Organism-specific databases | |
| CTD | 116369. |
| GeneCards | GC06M035911. |
| HGNC | HGNC:14468. SLC26A8. |
| HPA | HPA038080. HPA038081. |
| MIM | 608480. gene. |
| neXtProt | NX_Q96RN1. |
| PharmGKB | PA37885. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0659. |
| HOGENOM | HOG000154234. |
| HOVERGEN | HBG108443. |
| InParanoid | Q96RN1. |
| KO | K14705. |
| OMA | QLIPPLN. |
| OrthoDB | EOG495ZR3. |
| PhylomeDB | Q96RN1. |
Gene expression databases | |
| ArrayExpress | Q96RN1. |
| Bgee | Q96RN1. |
| CleanEx | HS_SLC26A8. |
| Genevestigator | Q96RN1. |
Family and domain databases | |
| Gene3D | 3.30.750.24. 2 hits. |
| InterPro | IPR002645. STAS_dom. IPR011547. Sulph_transpt. [Graphical view] |
| Pfam | PF01740. STAS. 1 hit. PF00916. Sulfate_transp. 1 hit. [Graphical view] |
| SUPFAM | SSF52091. STAS. 1 hit. |
| PROSITE | PS01130. SLC26A. False negative. PS50801. STAS. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 116369. |
| NextBio | 79881. |
| SOURCE | Search... |
Entry information
| Entry name | S26A8_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96RN1 Secondary accession number(s): Q5JVR5 Q96PK8 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 6 Human chromosome 6: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
