• Gene id: 83959

Gene Summary

• Gene Symbol: SLC4A11   Gene   UCSC   Ensembl
• Aliases: BTR1, CDPD1, CHED, CHED2, NABC1, dJ794I6.2
• Gene name: solute carrier family 4 member 11
• Alternate names: sodium bicarbonate transporter-like protein 11, bicarbonate transporter related protein 1, sodium-coupled borate cotransporter 1, solute carrier family 4, sodium bicarbonate transporter-like, member 11, solute carrier family 4, sodium borate transporter, memb,
• Gene location: 20p13 (3241483: 3227416)     Exons: 25     NC_000020.11
• Gene summary(Entrez): This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystroph
• OMIM: 605906

Protein Summary

• Protein general information: Q8NBS3  
  • Name: Sodium bicarbonate transporter like protein 11 (Bicarbonate transporter related protein 1) (Sodium borate cotransporter 1) (NaBC1) (Solute carrier family 4 member 11)
  • Length: 891  
  • Mass: 99581
  • Tissue specificity: Widely expressed. Highly expressed in kidney, testis, salivary gland, thyroid, trachea and corneal endothelium. Not detected in retina and lymphocytes. {ECO
• Sequence:

  MSQVGGRGDRCTQEVQGLVHGAGDLSASLAENSPTMSQNGYFEDSSYYKCDTDDTFEAREEILGDEAFDTANSSI
  VSGESIRFFVNVNLEMQATNTENEATSGGCVLLHTSRKYLKLKNFKEEIRAHRDLDGFLAQASIVLNETATSLDN
  VLRTMLRRFARDPDNNEPNCNLDLLMAMLFTDAGAPMRGKVHLLSDTIQGVTATVTGVRYQQSWLCIICTMKALQ
  KRHVCISRLVRPQNWGENSCEVRFVILVLAPPKMKSTKTAMEVARTFATMFSDIAFRQKLLETRTEEEFKEALVH
  QRQLLTMVSHGPVAPRTKERSTVSLPAHRHPEPPKCKDFVPFGKGIREDIARRFPLYPLDFTDGIIGKNKAVGKY
  ITTTLFLYFACLLPTIAFGSLNDENTDGAIDVQKTIAGQSIGGLLYALFSGQPLVILLTTAPLALYIQVIRVICD
  DYDLDFNSFYAWTGLWNSFFLALYAFFNLSLVMSLFKRSTEEIIALFISITFVLDAVKGTVKIFWKYYYGHYLDD
  YHTKRTSSLVSLSGLGASLNASLHTALNASFLASPTELPSATHSGQATAVLSLLIMLGTLWLGYTLYQFKKSPYL
  HPCVREILSDCALPIAVLAFSLISSHGFREIEMSKFRYNPSESPFAMAQIQSLSLRAVSGAMGLGFLLSMLFFIE
  QNLVAALVNAPENRLVKGTAYHWDLLLLAIINTGLSLFGLPWIHAAYPHSPLHVRALALVEERVENGHIYDTIVN
  VKETRLTSLGASVLVGLSLLLLPVPLQWIPKPVLYGLFLYIALTSLDGNQLVQRVALLLKEQTAYPPTHYIRRVP
  QRKIHYFTGLQVLQLLLLCAFGMSSLPYMKMIFPLIMIAMIPIRYILLPRIIEAKYLDVMDAEHRP

• Structural information:
  • Interpro: IPR011531  IPR003020  IPR016152  
  • STRING: ENSP00000369399
• Other Databases: GeneCards:  SLC4A11  Malacards:  SLC4A11

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0012506	vesicle membrane	ISS	cellular component
GO:0016323	basolateral plasma membrane	ISS	cellular component
GO:0005886	plasma membrane	ISS	cellular component
GO:0006814	sodium ion transport	IDA	biological process
GO:1902600	proton transmembrane transport	IDA	biological process
GO:0005272	sodium channel activity	IDA	molecular function
GO:0015252	proton channel activity	IDA	molecular function
GO:0046715	active borate transmembrane transporter activity	IDA	molecular function
GO:0015106	bicarbonate transmembrane transporter activity	IDA	molecular function
GO:0046713	borate transport	IDA	biological process
GO:0016323	basolateral plasma membrane	TAS	cellular component
GO:0030003	cellular cation homeostasis	IDA	biological process
GO:0015701	bicarbonate transport	IDA	biological process
GO:0051453	regulation of intracellular pH	IBA	biological process
GO:0046983	protein dimerization activity	IDA	molecular function
GO:0042044	fluid transport	ISS	biological process
GO:0005452	inorganic anion exchanger activity	IEA	molecular function
GO:0006820	anion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015301	anion:anion antiporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0015293	symporter activity	IEA	molecular function
GO:0042044	fluid transport	IEA	biological process
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0012506	vesicle membrane	IEA	cellular component
GO:0050801	ion homeostasis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0098656	anion transmembrane transport	IEA	biological process
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0035445	borate transmembrane transport	IEA	biological process
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0012506	vesicle membrane	ISS	cellular component
GO:0016323	basolateral plasma membrane	ISS	cellular component
GO:0005886	plasma membrane	ISS	cellular component
GO:0006814	sodium ion transport	IDA	biological process
GO:1902600	proton transmembrane transport	IDA	biological process
GO:0005272	sodium channel activity	IDA	molecular function
GO:0015252	proton channel activity	IDA	molecular function
GO:0046715	active borate transmembrane transporter activity	IDA	molecular function
GO:0015106	bicarbonate transmembrane transporter activity	IDA	molecular function
GO:0046713	borate transport	IDA	biological process
GO:0016323	basolateral plasma membrane	TAS	cellular component
GO:0030003	cellular cation homeostasis	IDA	biological process
GO:0015701	bicarbonate transport	IDA	biological process
GO:0051453	regulation of intracellular pH	IBA	biological process
GO:0046983	protein dimerization activity	IDA	molecular function
GO:0042044	fluid transport	ISS	biological process
GO:0005452	inorganic anion exchanger activity	IEA	molecular function
GO:0006820	anion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015301	anion:anion antiporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0015293	symporter activity	IEA	molecular function
GO:0042044	fluid transport	IEA	biological process
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0012506	vesicle membrane	IEA	cellular component
GO:0050801	ion homeostasis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0098656	anion transmembrane transport	IEA	biological process
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0035445	borate transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
Fuchs corneal dystrophy	KEGG:H00960
Congenital hereditary endothelial dystrophy	KEGG:H00963
Fuchs corneal dystrophy	KEGG:H00960
Congenital hereditary endothelial dystrophy	KEGG:H00963
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray