Entry - *600422 - FATTY ACID-BINDING PROTEIN 6; FABP6 - OMIM
 
* 600422

FATTY ACID-BINDING PROTEIN 6; FABP6


Alternative titles; symbols

FATTY ACID-BINDING PROTEIN, ILEAL
ILEAL LIPID-BINDING PROTEIN; ILLBP; ILBP
GASTROTROPIN
INTESTINAL BILE ACID-BINDING PROTEIN; IBABP


HGNC Approved Gene Symbol: FABP6

Cytogenetic location: 5q33.3     Genomic coordinates (GRCh38): 5:160,187,381-160,238,722 (from NCBI)


TEXT

Description

Ileal lipid-binding protein (ILBP) is a member of a family of intracellular fatty acid, retinoid, and bile acid-binding proteins (summary by Birkenmeier et al., 1994). ILBP binds conjugated and unconjugated bile salts and appears to function as the cytosolic receptor for bile acids that have undergone sodium-dependent active transport by the ileal bile acid transporter (IBAT).


Cloning and Expression

Birkenmeier et al. (1994) noted that the 128-residue mouse Ilbp protein is expressed only in differentiated members of the enterocyte lineage located in ileal villi.

Oelkers and Dawson (1995) isolated a human ILBP cDNA and showed that it encodes a 128-amino acid protein with homology to the fatty acid-binding protein gene family. Northern blot analysis showed a single transcript of approximately 0.6 kb in small intestine, but no hybridization to liver, spleen, thymus, prostate, ovary, cecum, or colon.


Mapping

Birkenmeier et al. (1994) mapped the Illbp gene to mouse chromosome 11 by interspecific backcross analysis. The nearest locus in the mouse is Csfgm, which in the human genome is located on 5q31.1 (CSF2; 138960), suggesting that the human homolog of mouse Illbp may reside on human 5q.

Using Southern blot analysis of genomic DNA from a panel of rodent/human somatic cell hybrids, Oelkers and Dawson (1995) determined that the human ILBP gene resides on chromosome 5, thus confirming the prediction from homology, which would map ILBP specifically to 5q23-q35. No other members of the fatty acid-binding protein gene family or genes encoding proteins involved in bile acid transport were known to be located in this region.


REFERENCES

  1. Birkenmeier, E. H., Rowe, L. B., Crossman, M. W., Gordon, J. I. Ileal lipid-binding protein (Illbp) gene maps to mouse chromosome 11. Mammalian Genome 5: 805-806, 1994. [PubMed: 7894165, related citations] [Full Text]

  2. Oelkers, P., Dawson, P. A. Cloning and chromosomal localization of the human ileal lipid-binding protein. Biochim. Biophys. Acta 1257: 199-202, 1995. [PubMed: 7619861, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 2/20/1995
alopez : 12/06/2010
alopez : 8/1/2000
alopez : 5/21/1999
terry : 8/14/1998
mark : 9/10/1997
mark : 9/10/1997
mark : 5/19/1997
mark : 10/13/1995
carol : 2/20/1995

* 600422

FATTY ACID-BINDING PROTEIN 6; FABP6


Alternative titles; symbols

FATTY ACID-BINDING PROTEIN, ILEAL
ILEAL LIPID-BINDING PROTEIN; ILLBP; ILBP
GASTROTROPIN
INTESTINAL BILE ACID-BINDING PROTEIN; IBABP


HGNC Approved Gene Symbol: FABP6

Cytogenetic location: 5q33.3     Genomic coordinates (GRCh38): 5:160,187,381-160,238,722 (from NCBI)


TEXT

Description

Ileal lipid-binding protein (ILBP) is a member of a family of intracellular fatty acid, retinoid, and bile acid-binding proteins (summary by Birkenmeier et al., 1994). ILBP binds conjugated and unconjugated bile salts and appears to function as the cytosolic receptor for bile acids that have undergone sodium-dependent active transport by the ileal bile acid transporter (IBAT).


Cloning and Expression

Birkenmeier et al. (1994) noted that the 128-residue mouse Ilbp protein is expressed only in differentiated members of the enterocyte lineage located in ileal villi.

Oelkers and Dawson (1995) isolated a human ILBP cDNA and showed that it encodes a 128-amino acid protein with homology to the fatty acid-binding protein gene family. Northern blot analysis showed a single transcript of approximately 0.6 kb in small intestine, but no hybridization to liver, spleen, thymus, prostate, ovary, cecum, or colon.


Mapping

Birkenmeier et al. (1994) mapped the Illbp gene to mouse chromosome 11 by interspecific backcross analysis. The nearest locus in the mouse is Csfgm, which in the human genome is located on 5q31.1 (CSF2; 138960), suggesting that the human homolog of mouse Illbp may reside on human 5q.

Using Southern blot analysis of genomic DNA from a panel of rodent/human somatic cell hybrids, Oelkers and Dawson (1995) determined that the human ILBP gene resides on chromosome 5, thus confirming the prediction from homology, which would map ILBP specifically to 5q23-q35. No other members of the fatty acid-binding protein gene family or genes encoding proteins involved in bile acid transport were known to be located in this region.


REFERENCES

  1. Birkenmeier, E. H., Rowe, L. B., Crossman, M. W., Gordon, J. I. Ileal lipid-binding protein (Illbp) gene maps to mouse chromosome 11. Mammalian Genome 5: 805-806, 1994. [PubMed: 7894165] [Full Text: https://doi.org/10.1007/BF00292019]

  2. Oelkers, P., Dawson, P. A. Cloning and chromosomal localization of the human ileal lipid-binding protein. Biochim. Biophys. Acta 1257: 199-202, 1995. [PubMed: 7619861] [Full Text: https://doi.org/10.1016/0005-2760(95)00098-w]


Creation Date:
Victor A. McKusick : 2/20/1995

Edit History:
alopez : 12/06/2010
alopez : 8/1/2000
alopez : 5/21/1999
terry : 8/14/1998
mark : 9/10/1997
mark : 9/10/1997
mark : 5/19/1997
mark : 10/13/1995
carol : 2/20/1995