• Gene id: 375611

Gene Summary

• Gene Symbol: SLC26A5   Gene   UCSC   Ensembl
• Aliases: DFNB61, PRES
• Gene name: solute carrier family 26 member 5
• Alternate names: prestin, prestin (motor protein), solute carrier family 26 (anion exchanger), member 5,
• Gene location: 7q22.1 (103446206: 103352597)     Exons: 22     NC_000007.14
• Gene summary(Entrez): This gene encodes a member of the SLC26A/SulP transporter family. The protein functions as a molecular motor in motile outer hair cells (OHCs) of the cochlea, inducing changes in cell length that act to amplify sound levels. The transmembrane protein is a
• OMIM: 604943

Protein Summary

• Protein general information: P58743  
  • Name: Prestin (Solute carrier family 26 member 5)
  • Length: 744  
  • Mass: 81264
• Sequence:

  MDHAEENEILAATQRYYVERPIFSHPVLQERLHTKDKVPDSIADKLKQAFTCTPKKIRNIIYMFLPITKWLPAYK
  FKEYVLGDLVSGISTGVLQLPQGLAFAMLAAVPPIFGLYSSFYPVIMYCFLGTSRHISIGPFAVISLMIGGVAVR
  LVPDDIVIPGGVNATNGTEARDALRVKVAMSVTLLSGIIQFCLGVCRFGFVAIYLTEPLVRGFTTAAAVHVFTSM
  LKYLFGVKTKRYSGIFSVVYSTVAVLQNVKNLNVCSLGVGLMVFGLLLGGKEFNERFKEKLPAPIPLEFFAVVMG
  TGISAGFNLKESYNVDVVGTLPLGLLPPANPDTSLFHLVYVDAIAIAIVGFSVTISMAKTLANKHGYQVDGNQEL
  IALGLCNSIGSLFQTFSISCSLSRSLVQEGTGGKTQLAGCLASLMILLVILATGFLFESLPQAVLSAIVIVNLKG
  MFMQFSDLPFFWRTSKIELTIWLTTFVSSLFLGLDYGLITAVIIALLTVIYRTQSPSYKVLGKLPETDVYIDIDA
  YEEVKEIPGIKIFQINAPIYYANSDLYSNALKRKTGVNPAVIMGARRKAMRKYAKEVGNANMANATVVKADAEVD
  GEDATKPEEEDGEVKYPPIVIKSTFPEEMQRFMPPGDNVHTVILDFTQVNFIDSVGVKTLAGIVKEYGDVGIYVY
  LAGCSAQVVNDLTRNRFFENPALWELLFHSIHDAVLGSQLREALAEQEASAPPSQEDLEPNATPATPEA

• Structural information:
  • Protein Domains: (525..71-)
    (/note="STAS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00198"-)
  • Interpro: IPR030282  IPR018045  IPR011547  IPR001902  IPR002645   IPR036513  
  • Prosite: PS01130 PS50801
  • STRING: ENSP00000304783
• Other Databases: GeneCards:  SLC26A5  Malacards:  SLC26A5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015108	chloride transmembrane transporter activity	IBA	molecular function
GO:0015116	sulfate transmembrane transporter activity	IBA	molecular function
GO:0015301	anion:anion antiporter activity	IBA	molecular function
GO:0019531	oxalate transmembrane transporter activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0015106	bicarbonate transmembrane transporter activity	IBA	molecular function
GO:0015116	sulfate transmembrane transporter activity	IEA	molecular function
GO:0007605	sensory perception of sound	IEA	biological process
GO:0008271	secondary active sulfate transmembrane transporter activity	IEA	molecular function
GO:0008272	sulfate transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0008360	regulation of cell shape	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0030507	spectrin binding	IEA	molecular function
GO:0016328	lateral plasma membrane	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:2000147	positive regulation of cell motility	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902074	response to salt	IEA	biological process
GO:0097066	response to thyroid hormone	IEA	biological process
GO:0035864	response to potassium ion	IEA	biological process
GO:0016328	lateral plasma membrane	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0010996	response to auditory stimulus	IEA	biological process
GO:0002931	response to ischemia	IEA	biological process
GO:0042391	regulation of membrane potential	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0098656	anion transmembrane transport	IEA	biological process
GO:0090102	cochlea development	IEA	biological process
GO:0045793	positive regulation of cell size	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0042493	response to drug	IEA	biological process
GO:0034766	negative regulation of ion transmembrane transport	IEA	biological process
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0015755	fructose transmembrane transport	IEA	biological process
GO:0009751	response to salicylic acid	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:1902358	sulfate transmembrane transport	IEA	biological process
GO:1902358	sulfate transmembrane transport	IEA	biological process
GO:1902358	sulfate transmembrane transport	IEA	biological process
GO:0015701	bicarbonate transport	IEA	biological process
GO:0019532	oxalate transport	IEA	biological process
GO:0007605	sensory perception of sound	IMP	biological process

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal recessive	KEGG:H00605
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq