• Gene id: 8671

Gene Summary

• Gene Symbol: SLC4A4   Gene   UCSC   Ensembl
• Aliases: HNBC1, KNBC, NBC1, NBC2, NBCe1-A, SLC4A5, hhNMC, kNBC1, pNBC
• Gene name: solute carrier family 4 member 4
• Alternate names: electrogenic sodium bicarbonate cotransporter 1, Na(+)/HCO3(-) cotransporter, sodium bicarbonate cotransporter 1 (sodium bicarbonate cotransporter, kidney; sodium bicarbonate cotransporter, pancreas), solute carrier family 4 (sodium bicarbonate cotransporter,
• Gene location: 4q13.3 (11155371: 11182027)     Exons: 7     NC_000002.12
• Gene summary(Entrez): This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants en
• OMIM: 603345

Protein Summary

• Protein general information: Q9Y6R1  
  • Name: Electrogenic sodium bicarbonate cotransporter 1 (Sodium bicarbonate cotransporter) (Na(+)/HCO3( ) cotransporter) (Solute carrier family 4 member 4) (kNBC1)
  • Length: 1079  
  • Mass: 121461
  • Tissue specificity: Isoform 1 is expressed in pancreas and to a lower extent in heart, skeletal muscle, liver, parotid salivary glands, prostate, colon, stomach, thyroid, brain and spinal chord. Corneal endothelium cells express only isoform 1 (at protein
• Sequence:

  MEDEAVLDRGASFLKHVCDEEEVEGHHTIYIGVHVPKSYRRRRRHKRKTGHKEKKEKERISENYSDKSDIENADE
  SSSSILKPLISPAAERIRFILGEEDDSPAPPQLFTELDELLAVDGQEMEWKETARWIKFEEKVEQGGERWSKPHV
  ATLSLHSLFELRTCMEKGSIMLDREASSLPQLVEMIVDHQIETGLLKPELKDKVTYTLLRKHRHQTKKSNLRSLA
  DIGKTVSSASRMFTNPDNGSPAMTHRNLTSSSLNDISDKPEKDQLKNKFMKKLPRDAEASNVLVGEVDFLDTPFI
  AFVRLQQAVMLGALTEVPVPTRFLFILLGPKGKAKSYHEIGRAIATLMSDEVFHDIAYKAKDRHDLIAGIDEFLD
  EVIVLPPGEWDPAIRIEPPKSLPSSDKRKNMYSGGENVQMNGDTPHDGGHGGGGHGDCEELQRTGRFCGGLIKDI
  KRKAPFFASDFYDALNIQALSAILFIYLATVTNAITFGGLLGDATDNMQGVLESFLGTAVSGAIFCLFAGQPLTI
  LSSTGPVLVFERLLFNFSKDNNFDYLEFRLWIGLWSAFLCLILVATDASFLVQYFTRFTEEGFSSLISFIFIYDA
  FKKMIKLADYYPINSNFKVGYNTLFSCTCVPPDPANISISNDTTLAPEYLPTMSSTDMYHNTTFDWAFLSKKECS
  KYGGNLVGNNCNFVPDITLMSFILFLGTYTSSMALKKFKTSPYFPTTARKLISDFAIILSILIFCVIDALVGVDT
  PKLIVPSEFKPTSPNRGWFVPPFGENPWWVCLAAAIPALLVTILIFMDQQITAVIVNRKEHKLKKGAGYHLDLFW
  VAILMVICSLMALPWYVAATVISIAHIDSLKMETETSAPGEQPKFLGVREQRVTGTLVFILTGLSVFMAPILKFI
  PMPVLYGVFLYMGVASLNGVQFMDRLKLLLMPLKHQPDFIYLRHVPLRRVHLFTFLQVLCLALLWILKSTVAAII
  FPVMILALVAVRKGMDYLFSQHDLSFLDDVIPEKDKKKKEDEKKKKKKKGSLDSDNDDSDCPYSEKVPSIKIPMD
  IMEQQPFLSDSKPSDRERSPTFLERHTSC

• Structural information:
  • Interpro: IPR013769  IPR011531  IPR003020  IPR003024  IPR016152  
  • PDB: 6CAA
  • PDBsum: 6CAA
  • DIP: 59373
  • STRING: ENSP00000393557
• Other Databases: GeneCards:  SLC4A4  Malacards:  SLC4A4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035725	sodium ion transmembrane transport	IDA	biological process
GO:0042391	regulation of membrane potential	IDA	biological process
GO:0042391	regulation of membrane potential	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	is active in
GO:0005886	plasma membrane	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016020	membrane	IDA	is active in
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0008510	sodium:bicarbonate symporter activity	IMP	molecular function
GO:0008510	sodium:bicarbonate symporter activity	TAS	molecular function
GO:0015701	bicarbonate transport	IDA	biological process
GO:0015293	symporter activity	IMP	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0051453	regulation of intracellular pH	IDA	biological process
GO:0036376	sodium ion export across plasma membrane	IMP	biological process
GO:0044214	spanning component of plasma membrane	RCA	cellular component
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0042391	regulation of membrane potential	ISS	biological process
GO:0045821	positive regulation of glycolytic process	ISS	biological process
GO:0045821	positive regulation of glycolytic process	IGI	biological process
GO:0015701	bicarbonate transport	IMP	biological process
GO:0051453	regulation of intracellular pH	ISS	biological process
GO:0051453	regulation of intracellular pH	IGI	biological process
GO:0051453	regulation of intracellular pH	IMP	biological process
GO:0055085	transmembrane transport	IMP	biological process
GO:0008510	sodium:bicarbonate symporter activity	IBA	molecular function
GO:0051453	regulation of intracellular pH	IBA	biological process
GO:0015701	bicarbonate transport	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0006814	sodium ion transport	IDA	biological process
GO:0008510	sodium:bicarbonate symporter activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005452	inorganic anion exchanger activity	IEA	molecular function
GO:0006820	anion transport	IEA	biological process
GO:0008509	anion transmembrane transporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006814	sodium ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0015701	bicarbonate transport	TAS	biological process
GO:0008510	sodium:bicarbonate symporter activity	TAS	molecular function
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0098656	anion transmembrane transport	IEA	biological process
GO:0015698	inorganic anion transport	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04972	Pancreatic secretion
hsa04976	Bile secretion
hsa04964	Proximal tubule bicarbonate reclamation

Diseases

Associated diseases	References
Renal tubular acidosis	KEGG:H02310
Proximal renal tubular acidosis	KEGG:H00429
Renal tubular acidosis	KEGG:H02310
Proximal renal tubular acidosis	KEGG:H00429
Renal tubular acidosis	PMID:10545938
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq