* 188062

THROMBOSPONDIN III; THBS3


HGNC Approved Gene Symbol: THBS3

Cytogenetic location: 1q22     Genomic coordinates (GRCh38): 1:155,195,588-155,209,178 (from NCBI)


TEXT

Cloning and Expression

The thrombospondins are a family of 5 distinct gene products (Qabar et al., 1995): thrombospondins I (188060), II (188061), III, and IV (600715) and cartilage oligomeric matrix protein (600310). Thrombospondin I and thrombospondin II are almost identical in exon/intron organization. In the mouse, each gene encodes a protein chain of about 1,170 amino acids with sequences very similar in the carboxy-terminal two-thirds but differing considerably in the NH2-terminal regions. THBS3 is a developmentally regulated heparin binding protein. Bornstein et al. (1993) reported the entire coding sequence of the third thrombospondin gene in mice. The predicted translation product was a protein clearly homologous to THBS1 and THBS2 in its COOH-terminal domains but substantially different in its NH2-terminal region. This structure suggested functional properties for THBS3 that are unique, but also related to those of THBS1 and THBS2.

The human THBS3 gene was characterized by Adolph et al. (1995). The 956-amino acid predicted protein is highly acidic, especially in the third quarter of the sequence which corresponds to 7 type III calcium binding repeats. Four type II EGF-like repeats are also present. As in the mouse, human THBS3 share a common promoter with metaxin.


Biochemical Features

Qabar et al. (1995) showed that THBS3 is a pentameric molecule held together by interchain disulfide linkage involving the 2 cysteine residues, Cys-245 and Cys-248.


Mapping

Bornstein et al. (1993) determined that the mouse Thbs3 gene is located on chromosome 3, immediately upstream of the gene for episialin (158340).

Vos et al. (1995) identified a 70-kb region of human 1q21 that shows homology to a similar region on mouse chromosome 3. They identified 6 human genes in the following order from 1qter to 1cen (with the mouse loci in the opposite order, cen-to-tel): GBA (606463), MTX1 (600605), THBS3, MUC1 (158340), GENEY (600986), and CD1 (188370).


Gene Structure

Bornstein et al. (1995) identified a mouse metaxin gene (Mtx1; 600605) that spans the 6-kb interval separating the glucocerebrosidase gene (Gba) from the thrombospondin III gene (Thbs3) on chromosome 3. Mtx1 and Gba are transcribed convergently; their major polyadenylation sites are only 431 bp apart. On the other hand, Mtx1 and the Thbs3 gene are transcribed divergently and share a common promoter sequence.

Adolph et al. (1995) found that the human THBS3 gene spans approximately 13 kb and has 23 exons, 1 more than was reported in the mouse due to the presence of an intron in the region equivalent to mouse exon F.


See Also:

REFERENCES

  1. Adolph, K. W., Long, G. L., Winfield, S., Ginns, E. I., Bornstein, P. Structure and organization of the human thrombospondin 3 gene (THBS3). Genomics 27: 329-336, 1995. [PubMed: 7558000, related citations] [Full Text]

  2. Bornstein, P., Devarayalu, S., Edelhoff, S., Disteche, C. M. Isolation and characterization of the mouse thrombospondin 3 (Thbs3) gene. Genomics 15: 607-613, 1993. [PubMed: 8468055, related citations] [Full Text]

  3. Bornstein, P., McKinney, C. E., LaMarca, M. E., Winfield, S., Shingu, T., Devarayalu, S., Vos, H. L., Ginns, E. I. Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease. Proc. Nat. Acad. Sci. 92: 4547-4551, 1995. [PubMed: 7753840, related citations] [Full Text]

  4. Bornstein, P. The thrombospondins: structure and regulation of expression. FASEB J. 6: 3290-3299, 1992. Note: Erratum: FASEB J. 7: 237 only, 1993. [PubMed: 1426766, related citations] [Full Text]

  5. Qabar, A., Derick, L., Lawler, J., Dixit, V. Thrombospondin 3 is a pentameric molecule held together by interchain disulfide linkage involving two cysteine residues. J. Biol. Chem. 270: 12725-12729, 1995. [PubMed: 7759526, related citations] [Full Text]

  6. Vos, H. L., Mockensturm-Wilson, M., Rood, P. M. L., Maas, A. M. C. E., Duhig, T., Gendler, S. J., Bornstein, P. A tightly organized, conserved gene cluster on mouse chromosome 3 (E3-F1). Mammalian Genome 6: 820-822, 1995. [PubMed: 8597643, related citations] [Full Text]


Contributors:
Alan F. Scott - updated : 9/17/1995
Creation Date:
Victor A. McKusick : 3/19/1993
carol : 11/06/2017
carol : 11/03/2017
terry : 04/04/2013
alopez : 12/6/2010
carol : 11/29/2001
joanna : 5/8/1998
terry : 1/17/1997
mark : 1/16/1996
mark : 1/16/1996
mark : 9/17/1995
mark : 6/12/1995
terry : 5/5/1994
carol : 4/30/1993
carol : 3/19/1993

* 188062

THROMBOSPONDIN III; THBS3


HGNC Approved Gene Symbol: THBS3

Cytogenetic location: 1q22     Genomic coordinates (GRCh38): 1:155,195,588-155,209,178 (from NCBI)


TEXT

Cloning and Expression

The thrombospondins are a family of 5 distinct gene products (Qabar et al., 1995): thrombospondins I (188060), II (188061), III, and IV (600715) and cartilage oligomeric matrix protein (600310). Thrombospondin I and thrombospondin II are almost identical in exon/intron organization. In the mouse, each gene encodes a protein chain of about 1,170 amino acids with sequences very similar in the carboxy-terminal two-thirds but differing considerably in the NH2-terminal regions. THBS3 is a developmentally regulated heparin binding protein. Bornstein et al. (1993) reported the entire coding sequence of the third thrombospondin gene in mice. The predicted translation product was a protein clearly homologous to THBS1 and THBS2 in its COOH-terminal domains but substantially different in its NH2-terminal region. This structure suggested functional properties for THBS3 that are unique, but also related to those of THBS1 and THBS2.

The human THBS3 gene was characterized by Adolph et al. (1995). The 956-amino acid predicted protein is highly acidic, especially in the third quarter of the sequence which corresponds to 7 type III calcium binding repeats. Four type II EGF-like repeats are also present. As in the mouse, human THBS3 share a common promoter with metaxin.


Biochemical Features

Qabar et al. (1995) showed that THBS3 is a pentameric molecule held together by interchain disulfide linkage involving the 2 cysteine residues, Cys-245 and Cys-248.


Mapping

Bornstein et al. (1993) determined that the mouse Thbs3 gene is located on chromosome 3, immediately upstream of the gene for episialin (158340).

Vos et al. (1995) identified a 70-kb region of human 1q21 that shows homology to a similar region on mouse chromosome 3. They identified 6 human genes in the following order from 1qter to 1cen (with the mouse loci in the opposite order, cen-to-tel): GBA (606463), MTX1 (600605), THBS3, MUC1 (158340), GENEY (600986), and CD1 (188370).


Gene Structure

Bornstein et al. (1995) identified a mouse metaxin gene (Mtx1; 600605) that spans the 6-kb interval separating the glucocerebrosidase gene (Gba) from the thrombospondin III gene (Thbs3) on chromosome 3. Mtx1 and Gba are transcribed convergently; their major polyadenylation sites are only 431 bp apart. On the other hand, Mtx1 and the Thbs3 gene are transcribed divergently and share a common promoter sequence.

Adolph et al. (1995) found that the human THBS3 gene spans approximately 13 kb and has 23 exons, 1 more than was reported in the mouse due to the presence of an intron in the region equivalent to mouse exon F.


See Also:

Bornstein (1992)

REFERENCES

  1. Adolph, K. W., Long, G. L., Winfield, S., Ginns, E. I., Bornstein, P. Structure and organization of the human thrombospondin 3 gene (THBS3). Genomics 27: 329-336, 1995. [PubMed: 7558000] [Full Text: https://doi.org/10.1006/geno.1995.1050]

  2. Bornstein, P., Devarayalu, S., Edelhoff, S., Disteche, C. M. Isolation and characterization of the mouse thrombospondin 3 (Thbs3) gene. Genomics 15: 607-613, 1993. [PubMed: 8468055] [Full Text: https://doi.org/10.1006/geno.1993.1114]

  3. Bornstein, P., McKinney, C. E., LaMarca, M. E., Winfield, S., Shingu, T., Devarayalu, S., Vos, H. L., Ginns, E. I. Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease. Proc. Nat. Acad. Sci. 92: 4547-4551, 1995. [PubMed: 7753840] [Full Text: https://doi.org/10.1073/pnas.92.10.4547]

  4. Bornstein, P. The thrombospondins: structure and regulation of expression. FASEB J. 6: 3290-3299, 1992. Note: Erratum: FASEB J. 7: 237 only, 1993. [PubMed: 1426766] [Full Text: https://doi.org/10.1096/fasebj.6.14.1426766]

  5. Qabar, A., Derick, L., Lawler, J., Dixit, V. Thrombospondin 3 is a pentameric molecule held together by interchain disulfide linkage involving two cysteine residues. J. Biol. Chem. 270: 12725-12729, 1995. [PubMed: 7759526] [Full Text: https://doi.org/10.1074/jbc.270.21.12725]

  6. Vos, H. L., Mockensturm-Wilson, M., Rood, P. M. L., Maas, A. M. C. E., Duhig, T., Gendler, S. J., Bornstein, P. A tightly organized, conserved gene cluster on mouse chromosome 3 (E3-F1). Mammalian Genome 6: 820-822, 1995. [PubMed: 8597643] [Full Text: https://doi.org/10.1007/BF00539013]


Contributors:
Alan F. Scott - updated : 9/17/1995

Creation Date:
Victor A. McKusick : 3/19/1993

Edit History:
carol : 11/06/2017
carol : 11/03/2017
terry : 04/04/2013
alopez : 12/6/2010
carol : 11/29/2001
joanna : 5/8/1998
terry : 1/17/1997
mark : 1/16/1996
mark : 1/16/1996
mark : 9/17/1995
mark : 6/12/1995
terry : 5/5/1994
carol : 4/30/1993
carol : 3/19/1993