Entry - *619413 - COILED-COIL DOMAIN-CONTAINING PROTEIN 144A; CCDC144A - OMIM
 
* 619413

COILED-COIL DOMAIN-CONTAINING PROTEIN 144A; CCDC144A


Alternative titles; symbols

KIAA0565


HGNC Approved Gene Symbol: CCDC144A

Cytogenetic location: 17p11.2     Genomic coordinates (GRCh38): 17:16,666,717-16,777,881 (from NCBI)


TEXT

Cloning and Expression

Nagase et al. (1998) cloned CCDC144A, which they called KIAA0565, from a human brain cDNA library. The deduced protein contains 540 amino acids and shares weak homology with human restin (CLIP1; 179838). CCDC144A had an apparent molecular mass of 68 kD by SDS-PAGE. RT-PCR analysis of human tissues showed highest expression of CCDC144A in testis and low to moderate expression in brain, placenta, kidney, pancreas, thymus, prostate, and ovary. Little to no expression was present in other tissues tested.


Mapping

By radiation hybrid analysis, Nagase et al. (1998) mapped the CCDC144A gene to chromosome 17.

Gross (2021) mapped the CCDC144A gene to chromosome 17p11.2 based on an alignment of the CCDC144A sequence (GenBank BC133019) with the genomic sequence (GRCh38).


Gene Function

Narula et al. (2020) identified several novel antilithiatic proteins, including CCDC144A, from human kidney stone matrix. In silico analysis suggested that these proteins exerted their antilithiatic effects by binding crystals and inhibiting crystal-cell interactions.


REFERENCES

  1. Gross, M. B. Personal Communication. Baltimore, Md. 6/29/2021.

  2. Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. DNA Res. 5: 31-39, 1998. [PubMed: 9628581, related citations] [Full Text]

  3. Narula, S., Tandon, S., Kumar, D., Varshney, S., Adlakha, K., Sengupta, S., Singh, S. K., Tandon, C. Human kidney stone matrix proteins alleviate hyperoxaluria induced renal stress by targeting cell-crystal interactions. Life Sci. 262: 118498, 2020. [PubMed: 32991878, related citations] [Full Text]


Creation Date:
Matthew B. Gross : 06/29/2021
carol : 07/07/2021
carol : 07/06/2021
mgross : 06/29/2021

* 619413

COILED-COIL DOMAIN-CONTAINING PROTEIN 144A; CCDC144A


Alternative titles; symbols

KIAA0565


HGNC Approved Gene Symbol: CCDC144A

Cytogenetic location: 17p11.2     Genomic coordinates (GRCh38): 17:16,666,717-16,777,881 (from NCBI)


TEXT

Cloning and Expression

Nagase et al. (1998) cloned CCDC144A, which they called KIAA0565, from a human brain cDNA library. The deduced protein contains 540 amino acids and shares weak homology with human restin (CLIP1; 179838). CCDC144A had an apparent molecular mass of 68 kD by SDS-PAGE. RT-PCR analysis of human tissues showed highest expression of CCDC144A in testis and low to moderate expression in brain, placenta, kidney, pancreas, thymus, prostate, and ovary. Little to no expression was present in other tissues tested.


Mapping

By radiation hybrid analysis, Nagase et al. (1998) mapped the CCDC144A gene to chromosome 17.

Gross (2021) mapped the CCDC144A gene to chromosome 17p11.2 based on an alignment of the CCDC144A sequence (GenBank BC133019) with the genomic sequence (GRCh38).


Gene Function

Narula et al. (2020) identified several novel antilithiatic proteins, including CCDC144A, from human kidney stone matrix. In silico analysis suggested that these proteins exerted their antilithiatic effects by binding crystals and inhibiting crystal-cell interactions.


REFERENCES

  1. Gross, M. B. Personal Communication. Baltimore, Md. 6/29/2021.

  2. Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. DNA Res. 5: 31-39, 1998. [PubMed: 9628581] [Full Text: https://doi.org/10.1093/dnares/5.1.31]

  3. Narula, S., Tandon, S., Kumar, D., Varshney, S., Adlakha, K., Sengupta, S., Singh, S. K., Tandon, C. Human kidney stone matrix proteins alleviate hyperoxaluria induced renal stress by targeting cell-crystal interactions. Life Sci. 262: 118498, 2020. [PubMed: 32991878] [Full Text: https://doi.org/10.1016/j.lfs.2020.118498]


Creation Date:
Matthew B. Gross : 06/29/2021

Edit History:
carol : 07/07/2021
carol : 07/06/2021
mgross : 06/29/2021