Entry - *611207 - DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 1; DNAJC1 - OMIM
 
* 611207

DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 1; DNAJC1


Alternative titles; symbols

HTJ1


HGNC Approved Gene Symbol: DNAJC1

Cytogenetic location: 10p12.31     Genomic coordinates (GRCh38): 10:21,756,548-22,003,730 (from NCBI)


TEXT

Cloning and Expression

By searching for sequences similar to mouse Dnajc1, followed by PCR of a liver cDNA library, Kroczynska et al. (2004) cloned human DNAJC1, which they called HTJ1. The deduced 554-amino acid protein has an N-terminal signal sequence, followed by a J domain, a transmembrane region, a ribosome-binding domain, 2 SANT domains, and a C-terminal endoplasmic reticulum retrieval signal.


Gene Function

By yeast 2-hybrid analysis, Kroczynska et al. (2004) found that DNAJC1 interacted with alpha-1-antichymotrypsin (AACT; 107280), and they confirmed the interaction by dot blot, native electrophoresis, and fluorescence studies. The second SANT domain of DNAJC1 (SANT2) was sufficient to bind AACT both in yeast and in vitro, and the interaction was disrupted by a trp520-to-ala mutation in SANT2. AACT bound to SANT2 had no inhibitory activity toward chymotrypsin (see 118890). SANT2 significantly slowed formation of the AACT-chymotrypsin acyl complex with no significant effect on the catalytic efficiency of chymotrypsin.


Mapping

The International Radiation Hybrid Mapping Consortium mapped the DNAJC1 gene to chromosome 10 (SGC32110).


REFERENCES

  1. Kroczynska, B., Evangelista, C. M., Samant, S. S., Elguindi, E. C., Blond, S. Y. The SANT2 domain of the murine tumor cell DnaJ-like protein 1 human homologue interacts with alpha-1-antichymotrypsin and kinetically interferes with its serpin inhibitory activity. J. Biol. Chem. 279: 11432-11443, 2004. [PubMed: 14668352, images, related citations] [Full Text]


Creation Date:
Patricia A. Hartz : 7/16/2007
carol : 08/17/2007
mgross : 7/16/2007
mgross : 7/16/2007

* 611207

DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 1; DNAJC1


Alternative titles; symbols

HTJ1


HGNC Approved Gene Symbol: DNAJC1

Cytogenetic location: 10p12.31     Genomic coordinates (GRCh38): 10:21,756,548-22,003,730 (from NCBI)


TEXT

Cloning and Expression

By searching for sequences similar to mouse Dnajc1, followed by PCR of a liver cDNA library, Kroczynska et al. (2004) cloned human DNAJC1, which they called HTJ1. The deduced 554-amino acid protein has an N-terminal signal sequence, followed by a J domain, a transmembrane region, a ribosome-binding domain, 2 SANT domains, and a C-terminal endoplasmic reticulum retrieval signal.


Gene Function

By yeast 2-hybrid analysis, Kroczynska et al. (2004) found that DNAJC1 interacted with alpha-1-antichymotrypsin (AACT; 107280), and they confirmed the interaction by dot blot, native electrophoresis, and fluorescence studies. The second SANT domain of DNAJC1 (SANT2) was sufficient to bind AACT both in yeast and in vitro, and the interaction was disrupted by a trp520-to-ala mutation in SANT2. AACT bound to SANT2 had no inhibitory activity toward chymotrypsin (see 118890). SANT2 significantly slowed formation of the AACT-chymotrypsin acyl complex with no significant effect on the catalytic efficiency of chymotrypsin.


Mapping

The International Radiation Hybrid Mapping Consortium mapped the DNAJC1 gene to chromosome 10 (SGC32110).


REFERENCES

  1. Kroczynska, B., Evangelista, C. M., Samant, S. S., Elguindi, E. C., Blond, S. Y. The SANT2 domain of the murine tumor cell DnaJ-like protein 1 human homologue interacts with alpha-1-antichymotrypsin and kinetically interferes with its serpin inhibitory activity. J. Biol. Chem. 279: 11432-11443, 2004. [PubMed: 14668352] [Full Text: https://doi.org/10.1074/jbc.M310903200]


Creation Date:
Patricia A. Hartz : 7/16/2007

Edit History:
carol : 08/17/2007
mgross : 7/16/2007
mgross : 7/16/2007