Entry - *300714 - OTU DOMAIN-CONTAINING PROTEIN 6A; OTUD6A - OMIM

 
 
* 300714

OTU DOMAIN-CONTAINING PROTEIN 6A; OTUD6A


Alternative titles; symbols

DUBA2
HIN6 PROTEASE


HGNC Approved Gene Symbol: OTUD6A

Cytogenetic location: Xq13.1     Genomic coordinates (GRCh38): X:70,062,457-70,064,179 (from NCBI)


TEXT

▼ Description

Deubiquitinating enzymes (DUBs; see 603478) are proteases that specifically cleave ubiquitin (191339) linkages, negating the action of ubiquitin ligases. DUBA2 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.

▼ Cloning and Expression

Kayagaki et al. (2007) identified ovarian tumor domain (OTU)-containing protein 6A (OTUD6A) in a small interfering RNA (siRNA)-based screen for OTU deubiquitinating enzyme (DUB) family members. The 1,689-basepair mRNA contains an open reading frame (ORF) predicting a 288-amino acid protein.


▼ Mapping

The OTUD6A gene maps to chromosome Xq13.1 (Kayagaki et al., 2007).


▼ REFERENCES

  1. Kayagaki, N., Phung, Q., Chan, S., Chaudhari, R., Quan, C., O'Rourke, K. M., Eby, M., Pietras, E., Cheng, G., Bazan, J. F., Zhang, Z., Arnott, D., Dixit, V. M. DUBA: a deubiquitinase that regulates type I interferon production. Science 318: 1628-1632, 2007. [PubMed: 17991829, related citations] [Full Text]


Creation Date:
Ada Hamosh : 5/6/2008
Edit History:
alopez : 05/07/2008
alopez : 5/6/2008
alopez : 5/6/2008
alopez : 5/6/2008

* 300714

OTU DOMAIN-CONTAINING PROTEIN 6A; OTUD6A


Alternative titles; symbols

DUBA2
HIN6 PROTEASE


HGNC Approved Gene Symbol: OTUD6A

Cytogenetic location: Xq13.1     Genomic coordinates (GRCh38): X:70,062,457-70,064,179 (from NCBI)


TEXT

Description

Deubiquitinating enzymes (DUBs; see 603478) are proteases that specifically cleave ubiquitin (191339) linkages, negating the action of ubiquitin ligases. DUBA2 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.

Cloning and Expression

Kayagaki et al. (2007) identified ovarian tumor domain (OTU)-containing protein 6A (OTUD6A) in a small interfering RNA (siRNA)-based screen for OTU deubiquitinating enzyme (DUB) family members. The 1,689-basepair mRNA contains an open reading frame (ORF) predicting a 288-amino acid protein.


Mapping

The OTUD6A gene maps to chromosome Xq13.1 (Kayagaki et al., 2007).


REFERENCES

  1. Kayagaki, N., Phung, Q., Chan, S., Chaudhari, R., Quan, C., O'Rourke, K. M., Eby, M., Pietras, E., Cheng, G., Bazan, J. F., Zhang, Z., Arnott, D., Dixit, V. M. DUBA: a deubiquitinase that regulates type I interferon production. Science 318: 1628-1632, 2007. [PubMed: 17991829] [Full Text: https://doi.org/10.1126/science.1145918]


Creation Date:
Ada Hamosh : 5/6/2008

Edit History:
alopez : 05/07/2008
alopez : 5/6/2008
alopez : 5/6/2008
alopez : 5/6/2008



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: June 4, 2024