* 600026

SYNTROPHIN, BETA-1; SNTB1


Alternative titles; symbols

SNT2B1
DYSTROPHIN-ASSOCIATED PROTEIN, BASIC A1; A1B
DAPA1B


HGNC Approved Gene Symbol: SNTB1

Cytogenetic location: 8q24.12     Genomic coordinates (GRCh38): 8:120,535,756-120,812,046 (from NCBI)


TEXT

Cloning and Expression

Dystrophin (300377)-associated protein A1 is a heterogeneous group of phosphorylated proteins consisting of distinct acidic and basic components, designated alpha-A1 and beta-A1, respectively. From the partial peptide sequence of A1 complex purified from rabbit muscle, Ahn et al. (1994) designed oligonucleotide probes that were used to isolate a cDNA for 1 human isoform of A1. This cDNA was found to encode a basic A1 isoform that was distinct from the previously described syntrophins in Torpedo and mouse and was expressed in many tissues with at least 5 distinct mRNA species. Comparison of the human cDNA sequence with the GenBank expressed sequence tag (EST) database identified a sequence related to human skeletal muscle EST25263, which was thought to be a human homolog of mouse syntrophin-2 (see 600027).


Mapping

By study of a panel of rodent/human somatic cell hybrids followed by fluorescence in situ hybridization, Ahn et al. (1994) mapped the A1B gene to 8q23-q24.


Gene Function

Yang et al. (1994) reviewed the heterogeneity of the 59-kD DAP which is an intracellular protein triplet component of the dystrophin-glycoprotein complex of muscle.


REFERENCES

  1. Ahn, A. H., Yoshida, M., Anderson, M. S., Feener, C. A., Selig, S., Hagiwara, Y., Ozawa, E., Kunkel, L. M. Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24. Proc. Nat. Acad. Sci. 91: 4446-4450, 1994. [PubMed: 8183929, related citations] [Full Text]

  2. Yang, B., Ibraghimov-Beskrovnaya, O., Moomaw, C. R., Slaughter, C. A., Campbell, K. P. Heterogeneity of the 59-kDa dystrophin-associated protein revealed by cDNA cloning and expression. J. Biol. Chem. 269: 6040-6044, 1994. [PubMed: 8119949, related citations]


Creation Date:
Victor A. McKusick : 7/13/1994
alopez : 03/25/2014
carol : 11/8/2000
carol : 10/24/2000
carol : 10/13/2000
mcapotos : 10/12/2000
dkim : 7/16/1998
mark : 1/28/1996
mark : 1/28/1996
terry : 1/23/1996
mark : 4/24/1995
carol : 1/13/1995
carol : 9/16/1994
mimadm : 7/30/1994

* 600026

SYNTROPHIN, BETA-1; SNTB1


Alternative titles; symbols

SNT2B1
DYSTROPHIN-ASSOCIATED PROTEIN, BASIC A1; A1B
DAPA1B


HGNC Approved Gene Symbol: SNTB1

Cytogenetic location: 8q24.12     Genomic coordinates (GRCh38): 8:120,535,756-120,812,046 (from NCBI)


TEXT

Cloning and Expression

Dystrophin (300377)-associated protein A1 is a heterogeneous group of phosphorylated proteins consisting of distinct acidic and basic components, designated alpha-A1 and beta-A1, respectively. From the partial peptide sequence of A1 complex purified from rabbit muscle, Ahn et al. (1994) designed oligonucleotide probes that were used to isolate a cDNA for 1 human isoform of A1. This cDNA was found to encode a basic A1 isoform that was distinct from the previously described syntrophins in Torpedo and mouse and was expressed in many tissues with at least 5 distinct mRNA species. Comparison of the human cDNA sequence with the GenBank expressed sequence tag (EST) database identified a sequence related to human skeletal muscle EST25263, which was thought to be a human homolog of mouse syntrophin-2 (see 600027).


Mapping

By study of a panel of rodent/human somatic cell hybrids followed by fluorescence in situ hybridization, Ahn et al. (1994) mapped the A1B gene to 8q23-q24.


Gene Function

Yang et al. (1994) reviewed the heterogeneity of the 59-kD DAP which is an intracellular protein triplet component of the dystrophin-glycoprotein complex of muscle.


REFERENCES

  1. Ahn, A. H., Yoshida, M., Anderson, M. S., Feener, C. A., Selig, S., Hagiwara, Y., Ozawa, E., Kunkel, L. M. Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24. Proc. Nat. Acad. Sci. 91: 4446-4450, 1994. [PubMed: 8183929] [Full Text: https://doi.org/10.1073/pnas.91.10.4446]

  2. Yang, B., Ibraghimov-Beskrovnaya, O., Moomaw, C. R., Slaughter, C. A., Campbell, K. P. Heterogeneity of the 59-kDa dystrophin-associated protein revealed by cDNA cloning and expression. J. Biol. Chem. 269: 6040-6044, 1994. [PubMed: 8119949]


Creation Date:
Victor A. McKusick : 7/13/1994

Edit History:
alopez : 03/25/2014
carol : 11/8/2000
carol : 10/24/2000
carol : 10/13/2000
mcapotos : 10/12/2000
dkim : 7/16/1998
mark : 1/28/1996
mark : 1/28/1996
terry : 1/23/1996
mark : 4/24/1995
carol : 1/13/1995
carol : 9/16/1994
mimadm : 7/30/1994