Entry - *600607 - VACUOLAR PROTEIN SORTING 72 HOMOLOG; VPS72 - OMIM
 
* 600607

VACUOLAR PROTEIN SORTING 72 HOMOLOG; VPS72


Alternative titles; symbols

VACUOLAR PROTEIN SORTING 72, YEAST, HOMOLOG OF
TRANSCRIPTION FACTOR-LIKE 1; TCFL1
TRANSFORMATION SUPPRESSOR GENE YL-1; YL1


HGNC Approved Gene Symbol: VPS72

Cytogenetic location: 1q21.3     Genomic coordinates (GRCh38): 1:151,176,304-151,190,197 (from NCBI)


TEXT

Cloning and Expression

Horikawa et al. (1995) followed up on previous observations that various transformed phenotypes of Kirsten sarcoma virus-transformed NIH 3T3 cells were suppressed by introduction of a normal human chromosome 1 via microcell fusion and that revertant cells that re-acquired the transformed phenotype commonly lost the human 1q21 and 1q23-q24 regions. The observations had suggested the location of a transformation suppressor gene(s) on the proximal portion of 1q. Horikawa et al. (1995) isolated a novel human cDNA on 1q21, designated YL1, as a candidate, and then cloned its mouse homolog. Human and mouse YL1 cDNA shared 96% amino acid homology and presumably encoded a transcription factor-like polypeptide. An analysis using a specific antibody demonstrated nuclear localization of YL1 protein. The bacterially expressed YL1 could bind to DNA. Thus, the YL1 protein possibly functions as a transcriptional regulator.

Cai et al. (2005) stated that the YL1 protein contains 364 amino acids and that it is highly conserved from humans to yeast.


Gene Structure

Cox et al. (2001) determined that the YL1 gene contains 6 coding exons spanning 14.2 kb and intergenically splices into TMOD4 (605834). The last exon of YL1 is 291 bp from a 5-prime untranslated exon of TMOD4. Cox et al. (2001) also found that YL1 undergoes unconventional splicing using noncanonical splice sites within exons to produce several alternative transcripts.


Mapping

Horikawa et al. (1995) identified the YL1 gene on chromosome 1q21.


Gene Function

Cai et al. (2005) demonstrated that epitope-tagged YL1 associated with proteins of the TRRAP (603015)/TIP60 (HTATIP; 601409) histone acetyltransferase complex in transfected HeLa cells. In addition, YL1 was part of a subset of proteins that also functioned as subunits of the SWI2/SNF2 (SMARCA2; 600014)-related CBP (CREBBP; 600140) activator protein (SRCAP) chromatin remodeling complex.


REFERENCES

  1. Cai, Y., Jin, J., Florens, L., Swanson, S. K., Kusch, T., Li, B., Workman, J. L., Washburn, M. P., Conaway, R. C., Conaway, J. W. The mammalian YL1 protein is a shared subunit of the TRRAP/TIP60 histone acetyltransferase and SRCAP complexes. J. Biol. Chem. 280: 13665-13670, 2005. [PubMed: 15647280, related citations] [Full Text]

  2. Cox, P. R., Siddique, T., Zoghbi, H. Y. Genomic organization of tropomodulins 2 and 4 and unusual intergenic and intraexonic splicing of YL-1 and tropomodulin 4. BMC Genomics 2: 7, 2001. Note: Electronic Article. [PubMed: 11716785, images, related citations] [Full Text]

  3. Horikawa, I., Tanaka, H., Yuasa, Y., Suzuki, M., Oshimura, M. Molecular cloning of a novel cDNA on chromosome 1q21 and its mouse homolog encoding a nuclear protein with DNA-binding ability. Biochem. Biophys. Res. Commun. 208: 999-1007, 1995. [PubMed: 7702631, related citations] [Full Text]


Carol A. Bocchini - updated : 3/13/2012
Patricia A. Hartz - updated : 6/22/2007
Creation Date:
Victor A. McKusick : 6/13/1995
carol : 12/19/2019
terry : 03/14/2012
carol : 3/13/2012
wwang : 7/2/2007
terry : 6/22/2007
carol : 6/23/1998
carol : 7/5/1996
mark : 6/13/1995

* 600607

VACUOLAR PROTEIN SORTING 72 HOMOLOG; VPS72


Alternative titles; symbols

VACUOLAR PROTEIN SORTING 72, YEAST, HOMOLOG OF
TRANSCRIPTION FACTOR-LIKE 1; TCFL1
TRANSFORMATION SUPPRESSOR GENE YL-1; YL1


HGNC Approved Gene Symbol: VPS72

Cytogenetic location: 1q21.3     Genomic coordinates (GRCh38): 1:151,176,304-151,190,197 (from NCBI)


TEXT

Cloning and Expression

Horikawa et al. (1995) followed up on previous observations that various transformed phenotypes of Kirsten sarcoma virus-transformed NIH 3T3 cells were suppressed by introduction of a normal human chromosome 1 via microcell fusion and that revertant cells that re-acquired the transformed phenotype commonly lost the human 1q21 and 1q23-q24 regions. The observations had suggested the location of a transformation suppressor gene(s) on the proximal portion of 1q. Horikawa et al. (1995) isolated a novel human cDNA on 1q21, designated YL1, as a candidate, and then cloned its mouse homolog. Human and mouse YL1 cDNA shared 96% amino acid homology and presumably encoded a transcription factor-like polypeptide. An analysis using a specific antibody demonstrated nuclear localization of YL1 protein. The bacterially expressed YL1 could bind to DNA. Thus, the YL1 protein possibly functions as a transcriptional regulator.

Cai et al. (2005) stated that the YL1 protein contains 364 amino acids and that it is highly conserved from humans to yeast.


Gene Structure

Cox et al. (2001) determined that the YL1 gene contains 6 coding exons spanning 14.2 kb and intergenically splices into TMOD4 (605834). The last exon of YL1 is 291 bp from a 5-prime untranslated exon of TMOD4. Cox et al. (2001) also found that YL1 undergoes unconventional splicing using noncanonical splice sites within exons to produce several alternative transcripts.


Mapping

Horikawa et al. (1995) identified the YL1 gene on chromosome 1q21.


Gene Function

Cai et al. (2005) demonstrated that epitope-tagged YL1 associated with proteins of the TRRAP (603015)/TIP60 (HTATIP; 601409) histone acetyltransferase complex in transfected HeLa cells. In addition, YL1 was part of a subset of proteins that also functioned as subunits of the SWI2/SNF2 (SMARCA2; 600014)-related CBP (CREBBP; 600140) activator protein (SRCAP) chromatin remodeling complex.


REFERENCES

  1. Cai, Y., Jin, J., Florens, L., Swanson, S. K., Kusch, T., Li, B., Workman, J. L., Washburn, M. P., Conaway, R. C., Conaway, J. W. The mammalian YL1 protein is a shared subunit of the TRRAP/TIP60 histone acetyltransferase and SRCAP complexes. J. Biol. Chem. 280: 13665-13670, 2005. [PubMed: 15647280] [Full Text: https://doi.org/10.1074/jbc.M500001200]

  2. Cox, P. R., Siddique, T., Zoghbi, H. Y. Genomic organization of tropomodulins 2 and 4 and unusual intergenic and intraexonic splicing of YL-1 and tropomodulin 4. BMC Genomics 2: 7, 2001. Note: Electronic Article. [PubMed: 11716785] [Full Text: https://doi.org/10.1186/1471-2164-2-7]

  3. Horikawa, I., Tanaka, H., Yuasa, Y., Suzuki, M., Oshimura, M. Molecular cloning of a novel cDNA on chromosome 1q21 and its mouse homolog encoding a nuclear protein with DNA-binding ability. Biochem. Biophys. Res. Commun. 208: 999-1007, 1995. [PubMed: 7702631] [Full Text: https://doi.org/10.1006/bbrc.1995.1433]


Contributors:
Carol A. Bocchini - updated : 3/13/2012
Patricia A. Hartz - updated : 6/22/2007

Creation Date:
Victor A. McKusick : 6/13/1995

Edit History:
carol : 12/19/2019
terry : 03/14/2012
carol : 3/13/2012
wwang : 7/2/2007
terry : 6/22/2007
carol : 6/23/1998
carol : 7/5/1996
mark : 6/13/1995