Entry - *602655 - SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1, ADAPTOR PROTEIN; SLC4A1AP - OMIM

 
 
* 602655

SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1, ADAPTOR PROTEIN; SLC4A1AP


Alternative titles; symbols

KIDNEY ANION EXCHANGER ADAPTOR PROTEIN
KANADAPTIN


HGNC Approved Gene Symbol: SLC4A1AP

Cytogenetic location: 2p23.3   Genomic coordinates (GRCh38) : 2:27,663,889-27,694,969 (from NCBI)


TEXT

▼ Cloning and Expression

Chen et al. (1998) cloned a mouse cDNA encoding a protein, termed kanadaptin (kidney anion exchanger adaptor protein), that binds to the cytoplasmic domain of the kidney isoform of erythroid band 3 (AE1; 109270) but not to the erythroid isoform or to ankyrin. Kanadaptin contains 507 amino acids and is proline-rich. Northern blot analysis revealed that in mouse the gene is widely expressed at a low level. Immunolocalization demonstrated that the protein is cytosolic, with a higher concentration in the region of plasma membranes, especially apical membranes.


▼ Gene Function

Chen et al. (1998) found that the expression of kanadaptin in mouse kidney is restricted to the collecting tubule. In the intercalated cells of that segment, it colocalizes with kidney AE1 (kAE1) only when the latter is in intracellular vesicles and not when it has been delivered to the basolateral membrane. Chen et al. (1998) suggested that kanadaptin may be part of the machinery that targets kAE1 to the basolateral membrane.


▼ Mapping

Scott (2000) mapped the SLC4A1AP gene to chromosome 2 based on sequence similarity between the SLC4A1AP sequence (GenBank AI424433) and a chromosome 2 clone (GenBank AC074091).

▼ REFERENCES

  1. Chen, J., Vijayakumar, S., Li, X., Al-Awqati, Q. Kanadaptin is a protein that interacts with the kidney but not the erythroid form of band 3. J. Biol. Chem. 273: 1038-1043, 1998. [PubMed: 9422766, related citations] [Full Text]

  2. Scott, A. F. Personal Communication. Baltimore, Md. 11/16/2000.


Creation Date:
Jennifer P. Macke : 5/26/1998
Edit History:
carol : 10/27/2009
cwells : 11/12/2003
carol : 11/16/2000
alopez : 5/26/1998

* 602655

SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1, ADAPTOR PROTEIN; SLC4A1AP


Alternative titles; symbols

KIDNEY ANION EXCHANGER ADAPTOR PROTEIN
KANADAPTIN


HGNC Approved Gene Symbol: SLC4A1AP

Cytogenetic location: 2p23.3   Genomic coordinates (GRCh38) : 2:27,663,889-27,694,969 (from NCBI)


TEXT

Cloning and Expression

Chen et al. (1998) cloned a mouse cDNA encoding a protein, termed kanadaptin (kidney anion exchanger adaptor protein), that binds to the cytoplasmic domain of the kidney isoform of erythroid band 3 (AE1; 109270) but not to the erythroid isoform or to ankyrin. Kanadaptin contains 507 amino acids and is proline-rich. Northern blot analysis revealed that in mouse the gene is widely expressed at a low level. Immunolocalization demonstrated that the protein is cytosolic, with a higher concentration in the region of plasma membranes, especially apical membranes.


Gene Function

Chen et al. (1998) found that the expression of kanadaptin in mouse kidney is restricted to the collecting tubule. In the intercalated cells of that segment, it colocalizes with kidney AE1 (kAE1) only when the latter is in intracellular vesicles and not when it has been delivered to the basolateral membrane. Chen et al. (1998) suggested that kanadaptin may be part of the machinery that targets kAE1 to the basolateral membrane.


Mapping

Scott (2000) mapped the SLC4A1AP gene to chromosome 2 based on sequence similarity between the SLC4A1AP sequence (GenBank AI424433) and a chromosome 2 clone (GenBank AC074091).

REFERENCES

  1. Chen, J., Vijayakumar, S., Li, X., Al-Awqati, Q. Kanadaptin is a protein that interacts with the kidney but not the erythroid form of band 3. J. Biol. Chem. 273: 1038-1043, 1998. [PubMed: 9422766] [Full Text: https://doi.org/10.1074/jbc.273.2.1038]

  2. Scott, A. F. Personal Communication. Baltimore, Md. 11/16/2000.


Creation Date:
Jennifer P. Macke : 5/26/1998

Edit History:
carol : 10/27/2009
cwells : 11/12/2003
carol : 11/16/2000
alopez : 5/26/1998



NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: Nov. 16, 2024