• Gene id: 6521

Gene Summary

• Gene Symbol: SLC4A1   Gene   UCSC   Ensembl
• Aliases: AE1, BND3, CD233, CHC, DI, EMPB3, EPB3, FR, RTA1A, SAO, SPH4, SW, WD, WD1, WR
• Gene name: solute carrier family 4 member 1 (Diego blood group)
• Alternate names: band 3 anion transport protein, Diego blood group, Froese blood group, Swann blood group, Waldner blood group, Wright blood group, anion exchange protein 1, anion exchanger-1, band 3 anion exchanger, erythrocyte membrane protein band 3, erythroid anion exchange pro,
• Gene location: 17q21.31 (44268160: 44248389)     Exons: 21     NC_000017.11
• Gene summary(Entrez): The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein
• OMIM: 601843

Protein Summary

• Protein general information: P02730  
  • Name: Band 3 anion transport protein (Anion exchange protein 1) (AE 1) (Anion exchanger 1) (Solute carrier family 4 member 1) (CD antigen CD233)
  • Length: 911  
  • Mass: 101792
  • Tissue specificity: Detected in erythrocytes (at protein level) (PubMed
• Sequence:

  MEELQDDYEDMMEENLEQEEYEDPDIPESQMEEPAAHDTEATATDYHTTSHPGTHKVYVELQELVMDEKNQELRW
  MEAARWVQLEENLGENGAWGRPHLSHLTFWSLLELRRVFTKGTVLLDLQETSLAGVANQLLDRFIFEDQIRPQDR
  EELLRALLLKHSHAGELEALGGVKPAVLTRSGDPSQPLLPQHSSLETQLFCEQGDGGTEGHSPSGILEKIPPDSE
  ATLVLVGRADFLEQPVLGFVRLQEAAELEAVELPVPIRFLFVLLGPEAPHIDYTQLGRAAATLMSERVFRIDAYM
  AQSRGELLHSLEGFLDCSLVLPPTDAPSEQALLSLVPVQRELLRRRYQSSPAKPDSSFYKGLDLNGGPDDPLQQT
  GQLFGGLVRDIRRRYPYYLSDITDAFSPQVLAAVIFIYFAALSPAITFGGLLGEKTRNQMGVSELLISTAVQGIL
  FALLGAQPLLVVGFSGPLLVFEEAFFSFCETNGLEYIVGRVWIGFWLILLVVLVVAFEGSFLVRFISRYTQEIFS
  FLISLIFIYETFSKLIKIFQDHPLQKTYNYNVLMVPKPQGPLPNTALLSLVLMAGTFFFAMMLRKFKNSSYFPGK
  LRRVIGDFGVPISILIMVLVDFFIQDTYTQKLSVPDGFKVSNSSARGWVIHPLGLRSEFPIWMMFASALPALLVF
  ILIFLESQITTLIVSKPERKMVKGSGFHLDLLLVVGMGGVAALFGMPWLSATTVRSVTHANALTVMGKASTPGAA
  AQIQEVKEQRISGLLVAVLVGLSILMEPILSRIPLAVLFGIFLYMGVTSLSGIQLFDRILLLFKPPKYHPDVPYV
  KRVKTWRMHLFTGIQIICLAVLWVVKSTPASLALPFVLILTVPLRRVLLPLIFRNVELQCLDADDAKATFDEEEG
  RDEYDEVAMPV

• Structural information:
  • Interpro: IPR001717  IPR002977  IPR018241  IPR013769  IPR011531   IPR003020  IPR016152  
  • Prosite: PS00219 PS00220
  • PDB: 1BH7 1BNX 1BTQ 1BTR 1BTS 1BTT 1BZK 1HYN 2BTA 2BTB 3BTB 4KY9 4YZF
  • PDBsum: 1BH7 1BNX 1BTQ 1BTR 1BTS 1BTT 1BZK 1HYN 2BTA 2BTB 3BTB 4KY9 4YZF
  • DIP: 42428
  • STRING: ENSP00000262418
• Other Databases: GeneCards:  SLC4A1  Malacards:  SLC4A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051453	regulation of intracellular pH	IBA	biological process
GO:0015701	bicarbonate transport	IBA	biological process
GO:0005452	inorganic anion exchanger activity	IDA	molecular function
GO:0015701	bicarbonate transport	IDA	biological process
GO:0015106	bicarbonate transmembrane transporter activity	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
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:0015301	anion:anion antiporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0008509	anion transmembrane transporter activity	TAS	molecular function
GO:0015301	anion:anion antiporter activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006820	anion transport	TAS	biological process
GO:0006873	cellular ion homeostasis	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0015701	bicarbonate transport	TAS	biological process
GO:0015701	bicarbonate transport	TAS	biological process
GO:0015701	bicarbonate transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006821	chloride transport	IEA	biological process
GO:0007596	blood coagulation	IEA	biological process
GO:0009898	cytoplasmic side of plasma membrane	IEA	cellular component
GO:0015108	chloride transmembrane transporter activity	IEA	molecular function
GO:0015301	anion:anion antiporter activity	IEA	molecular function
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0017121	plasma membrane phospholipid scrambling	IEA	biological process
GO:0030492	hemoglobin binding	IEA	molecular function
GO:0035811	negative regulation of urine volume	IEA	biological process
GO:0048821	erythrocyte development	IEA	biological process
GO:0051354	negative regulation of oxidoreductase activity	IEA	biological process
GO:0072659	protein localization to plasma membrane	IEA	biological process
GO:1904539	negative regulation of glycolytic process through fructose-6-phosphate	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0015106	bicarbonate transmembrane transporter activity	IEA	molecular function
GO:0015701	bicarbonate transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0030506	ankyrin binding	IEA	molecular function
GO:0030863	cortical cytoskeleton	IEA	cellular component
GO:0045852	pH elevation	IEA	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0043495	protein-membrane adaptor activity	TAS	molecular function
GO:0030506	ankyrin binding	IPI	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0098656	anion transmembrane transport	IEA	biological process
GO:0098656	anion transmembrane transport	IEA	biological process
GO:0098656	anion transmembrane transport	IEA	biological process
GO:0098656	anion transmembrane transport	IEA	biological process
GO:0098656	anion transmembrane transport	IEA	biological process
GO:0098656	anion transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:0030863	cortical cytoskeleton	IDA	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0015301	anion:anion antiporter activity	IDA	molecular function
GO:0006820	anion transport	IDA	biological process
GO:0015108	chloride transmembrane transporter activity	ISS	molecular function
GO:0006821	chloride transport	ISS	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0072562	blood microparticle	HDA	cellular component
GO:0030018	Z disc	ISS	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04966	Collecting duct acid secretion

Diseases

Associated diseases	References
Renal tubular acidosis	KEGG:H02310
Hereditary stomatocytosis	KEGG:H00232
Distal renal tubular acidosis	KEGG:H00428
Hereditary spherocytosis	KEGG:H00230
Hereditary elliptocytosis	KEGG:H00231
Southeast Asian ovalocytosis	KEGG:H01720
Cryohydrocytosis	KEGG:H02002
Renal tubular acidosis	KEGG:H02310
Hereditary stomatocytosis	KEGG:H00232
Distal renal tubular acidosis	KEGG:H00428
Hereditary spherocytosis	KEGG:H00230
Hereditary elliptocytosis	KEGG:H00231
Southeast Asian ovalocytosis	KEGG:H01720
Cryohydrocytosis	KEGG:H02002
hereditary spherocytosis	PMID:8547122
hereditary spherocytosis	PMID:9207478
hereditary spherocytosis	PMID:8282779
hereditary spherocytosis	PMID:9326249
Renal tubular acidosis	PMID:22919024
Renal tubular acidosis	PMID:22126643
Hereditary elliptocytosis	PMID:7742553
Glucosephosphate dehydrogenase deficiency	PMID:21246053
Congenital hemolytic anemia	PMID:16227998
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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