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Symbol TAZ contributors: mct/npt/pgu - updated : 27-11-2015
HGNC name tafazzin
HGNC id 11577
Corresponding disease
BTHS Barth syndrome
CMD3A cardiomyopathy, dilated 3A
INVM noncompaction of the left ventricular myocardium, familial isolated
Location Xq28      Physical location : 153.639.876 - 153.650.061
Synonym name
  • tafazzin, X-linked sequences XAP-2
  • cardiomyopathy, dilated 3A (X-linked)
  • endocardial fibroelastosis 2
  • Barth syndrome
  • protein G4.5
  • endocardial fibroelastosis 2
  • Synonym symbol(s) G4.5, XAP2, CMD3A, EFE2, EFE, TFZ, BTHS, FLJ27390, LVNCX
    TYPE functioning gene
    STRUCTURE 10.19 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - OPN1LW - OPN1MW - TKTL1 - FLNA - EMD EMD - DNASE1L1 - TAZ - ATP6AP1 - GDI1 - FAM50A - PLXNA3 - UBL4A - FAM3A - G6PD - qter
    Authors Rivella (99)
    Physical map
    OPN1LW Xq28 opsin 1 (cone pigments), long-wave-sensitive (color blindness, protan) OPN1MW Xq28 opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) CXorf2 Xq28 chromosome X open reading frame 2 TKTL1 Xq28 transketolase-like 1 FLNA Xq28 filamin A, alpha (actin binding protein 280) EMD Xq28 emerin (Emery-Dreifuss muscular dystrophy) RPL10 Xq28 ribosomal protein L10 DNASE1L1 Xq28 deoxyribonuclease I-like 1 TAZ Xq28 tafazzin (cardiomyopathy, dilated 3A (X-linked); endocardial fibroelastosis 2; Barth syndrome) ATP6AP1 Xq28 ATPase, H+ transporting, lysosomal accessory protein 1 GDI1 Xq28 GDP dissociation inhibitor 1 DXS9928E Xq28 DNA segment on chromosome X (unique) 9928 expressed sequence PLXN3 Xq28 likely ortholog of mouse plexin 3 DXS9879E Xq28 DNA segment on chromosome X (unique) 9879 expressed sequence UBL4 Xq28 ubiquitin-like 4 SLC10A3 Xq28 solute carrier family 10 (sodium/bile acid cotransporter family), member 3 FAM3A Xq28 family with sequence similarity 3, member A G6PD Xq28 glucose-6-phosphate dehydrogenase IKBKG Xq28 inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma SPCX Xq28 SPCX LAGE2A  cancer/testis antigen 1-A CTAG1 Xq28 cancer/testis antigen 1 LOC340600 Xq28 cyclic-AMP-dependent transcription factor ATF-4 pseudogene deltaNEMO Xq28 deltaNEMO CTAG2 Xq28 cancer/testis antigen 2
    TRANSCRIPTS type messenger
  • at least six transcripts resulting from alternative splicing, proteins differing at the N terminus (initiation sites) and/or in the central region (exons 5, 6, 7 )
  • produce a large set of alternatively spliced mRNAs with initiations of transcription upstream of exons 1 and 3 (PMID: 15793838)
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 1919 33.5 292 in lymphocytes 2009 19700766
  • hTAZ-FL
  • exon 7 of tafazzin is essential for catalysis
  • translation of exon 5 gives rise to the formation of hTAZ-FL, a specific modification of tafazzin that is present only in humans
  • 10 splicing 1877 - 278 - 2009 19700766
  • deletion of exon 7
  • TAZ-delta 7 were inactive
  • 9 splicing 1787 - 248 - 2009 19700766
  • exons 5-7 deleted
  • TAZ-delta5-delta7 were inactive
  • - splicing 1934 - 95 - 2009 19700766
    10 splicing 1853 - 262 in lymphocytes 2009 19700766
  • variant 6 (delta 5)
  • deletion of exon 5
  • functional protein with a role in cardiolipin metabolism
  • lacking exon 5 (delta5) but having transacylase activity, and able to restore a normal cardiolipin pattern, normal respiratory activity of mitochondria
  • associated with large protein complexes, but is more integrated into the hydrophobic core of the membrane than hTAZ-FL
  • exon 7 of tafazzin is essential for catalysis
  • 10 - 1953 - 296 - 2009 19700766
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly
    cell lineage
    cell lines
    at STAGE
  • highly hydrophobic stretch of 30 AA at N terminus, variable region between 124 and 195 AA
  • an hydrophilic domain that may serve as an exposed loop interacting with other proteins
  • WW domains, which are important protein-protein interaction modules that mediate interaction with proline-rich motifs, most commonly PPXY , involved in transcriptional regulatory function
  • a novel fifth motif, identified as critical for the glycerolphosphate acyltransferase family
  • a C-terminal PDZ-binding motif potentially mediating its interactions with various transcriptional proteins, and required for binding with TJP1, TJP2
    interspecies homolog to murine Taz
    ortholog to S. cerevisiae Taz1
    intraspecies paralog to YAP
  • taffazin family
  • CATEGORY motor/contractile , secretory , structural protein , transcription factor
    SUBCELLULAR LOCALIZATION     plasma membrane
  • in the nucleus, functions directly as a transcriptional regulator by interacting with several nuclear factors
  • role of NEK8 in mediating nuclear translocation of TAZ
  • basic FUNCTION
  • function as an acyltransferase in the remodeling of cardiolipin in the inner mitochondrial membrane
  • playing an important role in fetal and neonatal muscular and cardiac development
  • playing key roles in the control of TBX5-dependent transcription and suggest the involvement in cardiac and limb development
  • inducing osteoblast differentiation of mesenchymal stem cells by coactivating RUNX2 and repressing PPARG
  • mitochondrial acyltransferase involved in the remodeling of cardiolipin
  • involved in both assembly and stability of respiratory chain complexes in the inner membrane of mitochondria
  • controls Smad nucleocytoplasmic shuttling and regulates human embryonic stem-cell self-renewal
  • having an essential role in Smad nuclear accumulation and can couple Smads to the transcriptional machinery
  • involved in osteoblast proliferation and differentiation
  • havingtransacylase activity, and able to restore a normal cardiolipin pattern, normal respiratory activity of mitochondria
  • phospholipid-lysophospholipid transacylase that is involved in the generation of the characteristic fatty acid profile of mitochondrial cardiolipin
  • TAZ and INADL are novel regulatory elements of the PKD2 channel and might thus be involved in ADPKD pathology
  • mitochondrial transacylase required for cardiolipin remodeling
  • participates in the metabolism of cardiolipin, the signature phospholipid of mitochondria
  • transcriptional modulator of mesenchymal stem cell differentiation
  • is involved in human conjunctiva epithelial cells proliferation via regulating TGFB signaling pathway
  • critical role for TAZ/hippo signalling in the pathogenesis of nephronophthisis (NPH) but may also imply a possible role for NPHP9 in TAZ-mediated tumorigenesis
  • biological function of tafazzin is a transacylase with a central role in the process of Cardiolipin (CL) acyl chain remodeling
  • its activity is critical for the differentiation of cardiomyocytes, in which the characteristic cristae-rich morphology of cardiac mitochondria evolves
  • TAZ is essential and instrumental for cell proliferation downstream of aberrant WNT signaling, cooperating with the well-established function of CTNNB1 in this process
  • phospholipid transacylase that catalyzes the remodeling of cardiolipin, a mitochondrial phospholipid required for oxidative phosphorylation
  • is the main determinant of the final acyl chain composition of the mitochondrial-specific phospholipid, cardiolipin
  • enzyme involved in the acyl chain remodeling of the mitochondrial phospholipid cardiolipin (CL)
  • CELLULAR PROCESS cell life, differentiation
    cell life, proliferation/growth
    nucleotide, transcription
  • is a component of the WNT signaling cascade and mediates WNT biological response
  • a component
    small molecule
  • interacting with NKX2-1 (binds to the NH(2)-terminal domain of NKX2-1, increasing the transcriptional activity of NKX2-1 on the surfactant protein C promoter)
  • coactivator for TBX5 (associates with TBX5 and markedly stimulates TBX5-dependent promoters by interacting with the histone acetyltransferases p300 and PCAF)
  • interacting with YAP, a TAZ-related protein with conserved functional domains, also stimulates TBX5-dependent transcription, possibly by forming a heterodimer with TAZ
  • interacting with Smad complexes
  • associates with the mediator subunit MED15 (can retain TAZ in the nucleus)
  • interacts with the transcriptional modulator Wwtr1/TAZ, which itself has been implicated in glomerulocystic kidney disease
  • binds with CCAR1 and over-expression of TAZ inhibits apoptosis by CCAR1 (
  • interaction of TAZ with the multi-PDZ-containing PALS1-associated tight junction protein (INADL)
  • interaction between TAZ and TJP1, TJP2, through TAZ C-terminal PDZ binding motif (interacts with both the N-terminal PDZ domains 1-3 and the C-terminal PDZ domains 8-10 of INADL, suggesting two distinct TAZ binding domains)
  • interaction of WBP2 with TAZ is dependent on the WW domain of TAZ and the PPXY-containing C-terminal region of WBP2
  • TP53BP2 facilitates the interaction between TAZ and PPP1CA to promote TAZ dephosphorylation
  • AMOT interacting with YAP1 and TAZ (YAP1 and TAZ inhibition by AMOT-mediated tight junction localization)
  • interaction between DEX (dexamethasone) and TAZ that contributes to the mechanism of adipogenesis
  • transcriptional suppressor of PPARG
  • NEK8 and NPHP4 co-operated to control TAZ activity
  • NPHP4, by inhibiting TAZ phosphorylation at the 14-3-3 binding site, leads to the tandem nuclear accumulation of TAZ and NEK8
  • TAZ activation is a general feature of WNT signaling and is functionally relevant to mediate WNT biological effects
  • essential for remodeling acyl chains of cardiolipin
  • PTPN11 physically interacts with transcriptional coactivators YAP1 and TAZ, targets of the cell-density-sensing Hippo signal
  • PARD3 promotes the interaction between PPP1CA and LATS1 to induce LATS1 dephosphorylation and inactivation, therefore leading to dephosphorylation and activation of TAZ
  • YOD1 stabilizes ITCH and facilitates ITCH-mediated LATS1/2 ubiquitination and degradation, which results in increased YAP1/TAZ level
  • IMP3 facilitates the transcription of SNAI2, which is necessary for TAZ nuclear localization and activation, by a mechanism that is also mediated by WNT5B
  • cell & other
    activated by PARD3 inducing TAZ activation and cell growth by promoting LATS1 and PPP1CA interaction
    inhibited by specifically mediated by dexamethasone (DEX), one component of induction cocktails routinely used in adipocyte differentiation
    repressed by overexpression of AMOT and AMOTL1 (caused cytoplasmic retention of TAZ and suppressed its transcriptional outcome such as the expression of CTGF and Cyr61)
    Other WNT regulation of TAZ stability is independent of the Hippo pathway
    corresponding disease(s) CMD3A , BTHS , INVM
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    inhibited adipogenesis and promoted the trans-differentiation of preadipocytes into osteocytes (
    tumoral     --other  
    aberrantly expressed in some cancers, including rectal cancer and thyroid neoplasms
    tumoral     --over  
    in cervical cancer and may promote tumorigenicity of cervical cancer cells and inhibit apoptosis
    Variant & Polymorphism
    Candidate gene
    Therapy target
    networking between TAZ and TJP1 and TJP2 offers a promising target in the control of proliferation and apoptosis, epithelial-mesenchymal transition and migration capacity of cancer cells
  • defects of cardiac mitochondria and mitochondrion-associated membranes in taz-deficient mice, and cardiac muscle and skeletal muscle of tafazzin-deficient mice demonstrate ultrastructural defects, including mitochondrial proliferation, myofibrillar disarray, mitophagy
  • Tafazzin-knockdown in mice markedly impaired oxygen consumption rates during an exercise, without any significant effect on resting metabolic rates
  • Taz deficiency in mouse embryonic fibroblasts (MEFs) also led to impaired oxidative phosphorylation and severe oxidative stress