Entry - *603049 - THIOREDOXIN-LIKE 1; TXNL1 - OMIM
 
* 603049

THIOREDOXIN-LIKE 1; TXNL1


Alternative titles; symbols

THIOREDOXIN-LIKE; TXNL
TXL


HGNC Approved Gene Symbol: TXNL1

Cytogenetic location: 18q21.31     Genomic coordinates (GRCh38): 18:56,597,209-56,638,592 (from NCBI)


TEXT

Description

Thioredoxins are a group of small redox active proteins that have a conserved active site sequence. Proteins with thioredoxin-like domains, e.g., TXNL1, have many of the conserved residues in thioredoxins present at the same position but different active site residues (summary by Miranda-Vizuete et al., 1998).


Cloning and Expression

By searching EST databases with the region centered on the active site of human thioredoxin (TXN; 187700), followed by PCR on human testis cDNA, Miranda-Vizuete et al. (1998) isolated a cDNA encoding TXL. The predicted 289-amino acid, 32.3-kD protein has 2 distinct domains: an N-terminal domain, which is 43% identical to human TXN, and a C-terminal domain, which showed no homology to other proteins in the sequence databases. The active site sequence, located within the N-terminal domain, is that of a thioredoxin-like protein; compared to the active site sequence of TXN, it has a single amino acid substitution. Unlike other thioredoxin-like proteins, TXL did not act as a substrate for thioredoxin reductase in an insulin assay. Since TXL has an additional 184 amino acids at its C terminus relative to other mammalian thioredoxins, the authors tested a TXL protein that lacked the C-terminal domain and found that this truncated form was also unable to act as a substrate in an insulin assay. Northern blot analysis detected a 1.3-kb TXL transcript in all human tissues tested.


Mapping

Gross (2012) mapped the TXNL1 gene to chromosome 18q21.31 based on an alignment of the TXNL1 sequence (GenBank AB209263) with the genomic sequence (GRCh37).


REFERENCES

  1. Gross, M. B. Personal Communication. Baltimore, Md. 6/18/2012.

  2. Miranda-Vizuete, A., Gustafsson, J.-A., Spyrou, G. Molecular cloning and expression of a cDNA encoding a human thioredoxin-like protein. Biochem. Biophys. Res. Commun. 243: 284-288, 1998. [PubMed: 9473519, related citations] [Full Text]


Contributors:
Matthew B. Gross - updated : 06/18/2012
Creation Date:
Sheryl A. Jankowski : 9/21/1998
mgross : 06/18/2012
carol : 6/18/2012
carol : 6/14/2012
psherman : 12/4/1998
psherman : 9/22/1998

* 603049

THIOREDOXIN-LIKE 1; TXNL1


Alternative titles; symbols

THIOREDOXIN-LIKE; TXNL
TXL


HGNC Approved Gene Symbol: TXNL1

Cytogenetic location: 18q21.31     Genomic coordinates (GRCh38): 18:56,597,209-56,638,592 (from NCBI)


TEXT

Description

Thioredoxins are a group of small redox active proteins that have a conserved active site sequence. Proteins with thioredoxin-like domains, e.g., TXNL1, have many of the conserved residues in thioredoxins present at the same position but different active site residues (summary by Miranda-Vizuete et al., 1998).


Cloning and Expression

By searching EST databases with the region centered on the active site of human thioredoxin (TXN; 187700), followed by PCR on human testis cDNA, Miranda-Vizuete et al. (1998) isolated a cDNA encoding TXL. The predicted 289-amino acid, 32.3-kD protein has 2 distinct domains: an N-terminal domain, which is 43% identical to human TXN, and a C-terminal domain, which showed no homology to other proteins in the sequence databases. The active site sequence, located within the N-terminal domain, is that of a thioredoxin-like protein; compared to the active site sequence of TXN, it has a single amino acid substitution. Unlike other thioredoxin-like proteins, TXL did not act as a substrate for thioredoxin reductase in an insulin assay. Since TXL has an additional 184 amino acids at its C terminus relative to other mammalian thioredoxins, the authors tested a TXL protein that lacked the C-terminal domain and found that this truncated form was also unable to act as a substrate in an insulin assay. Northern blot analysis detected a 1.3-kb TXL transcript in all human tissues tested.


Mapping

Gross (2012) mapped the TXNL1 gene to chromosome 18q21.31 based on an alignment of the TXNL1 sequence (GenBank AB209263) with the genomic sequence (GRCh37).


REFERENCES

  1. Gross, M. B. Personal Communication. Baltimore, Md. 6/18/2012.

  2. Miranda-Vizuete, A., Gustafsson, J.-A., Spyrou, G. Molecular cloning and expression of a cDNA encoding a human thioredoxin-like protein. Biochem. Biophys. Res. Commun. 243: 284-288, 1998. [PubMed: 9473519] [Full Text: https://doi.org/10.1006/bbrc.1997.8003]


Contributors:
Matthew B. Gross - updated : 06/18/2012

Creation Date:
Sheryl A. Jankowski : 9/21/1998

Edit History:
mgross : 06/18/2012
carol : 6/18/2012
carol : 6/14/2012
psherman : 12/4/1998
psherman : 9/22/1998