Version 5.4
Homo sapiens Gene: TAZ
Summary
InnateDB Gene IDBG-91391.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TAZ
Gene Name tafazzin
Synonyms BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; Taz1
Species Homo sapiens
Ensembl Gene ENSG00000102125
Encoded Proteins
IDBP-91403
tafazzin
IDBP-383637
tafazzin
IDBP-383643
tafazzin
IDBP-477699
tafazzin
IDBP-810683
tafazzin
IDBP-810695
tafazzin
IDBP-810702
tafazzin
IDBP-810709
tafazzin
IDBP-810710
tafazzin
IDBP-810716
tafazzin
IDBP-810718
tafazzin
IDBP-810720
tafazzin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Multiple transcript variants encoding different isoforms have been described. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts is not known. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome X:154411518-154421726
Strand Forward strand
Band q28
Transcripts
ENST00000369776 ENSP00000358791
ENST00000439735 ENSP00000398193
ENST00000426231 ENSP00000406257
ENST00000475699 ENSP00000419854
ENST00000483780
ENST00000476679
ENST00000479875
ENST00000483674
ENST00000476800
ENST00000470127
ENST00000494912
ENST00000498029
ENST00000615658
ENST00000613634
ENST00000616020 ENSP00000483636
ENST00000613002 ENSP00000478154
ENST00000612012 ENSP00000482070
ENST00000612460 ENSP00000481037
ENST00000601016 ENSP00000469981
ENST00000621647
ENST00000615986 ENSP00000480133
ENST00000617701 ENSP00000481645
ENST00000620808 ENSP00000479311
ENST00000614595
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated
Total 12 [view]
Protein-Protein 12 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0016746 transferase activity, transferring acyl groups
GO:0047184 1-acylglycerophosphocholine O-acyltransferase activity
Biological Process
GO:0006644 phospholipid metabolic process
GO:0006936 muscle contraction
GO:0007507 heart development
GO:0007519 skeletal muscle tissue development
GO:0008152 metabolic process
GO:0030097 hemopoiesis
GO:0032049 cardiolipin biosynthetic process
GO:0032981 mitochondrial respiratory chain complex I assembly
GO:0035965 cardiolipin acyl-chain remodeling
GO:0042407 cristae formation
GO:0042775 mitochondrial ATP synthesis coupled electron transport
GO:0044281 small molecule metabolic process
GO:0046474 glycerophospholipid biosynthetic process
GO:0048738 cardiac muscle tissue development
GO:0060048 cardiac muscle contraction
Cellular Component
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005829 cytosol
GO:0016020 membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000009995
View Gene Order
ENSBTAG00000007456
Not yet available
Pathways
NETPATH
REACTOME
REACT_118595
Mitochondrial protein import pathway
REACT_121006
Acyl chain remodeling of CL pathway
REACT_22258
Metabolism of lipids and lipoproteins pathway
REACT_121401
Glycerophospholipid biosynthesis pathway
REACT_17015
Metabolism of proteins pathway
REACT_120870
Phospholipid metabolism pathway
REACT_111217
Metabolism pathway
KEGG
hsa00564
Glycerophospholipid metabolism pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL C9J9M1
UniProt Splice Variant
Entrez Gene 6901
UniGene
RefSeq NM_000116 NM_181311 NM_181312 NM_181313 XM_006724840 XM_006724842
HUGO HGNC:11577
OMIM 300394
CCDS CCDS14748 CCDS14749 CCDS14750 CCDS35450
HPRD
IMGT
EMBL BX936347
GenPept
RNA Seq Atlas 6901

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca