TAZ
entrez
6901
canonical
uniprot
Q16635
canonical
ensembl
ENSG00000102125
resolver
ensp
ENSP00000358791
resolver
ensp
ENSP00000419854
resolver
ensp
ENSP00000469981
resolver
ensp
ENSP00000478154
resolver
ensp
ENSP00000481037
resolver
ensp
ENSP00000482070
resolver
ensp
ENSP00000483636
resolver
ensp
ENSP00000498464
resolver
ensp
ENSP00000498734
resolver
ensp
ENSP00000498858
resolver
ensp
ENSP00000663223
resolver
ensp
ENSP00000709655
resolver
ensp
ENSP00000709661
resolver
ensp
ENSP00000731636
resolver
enst
ENST00000616020
resolver
genesymbol
TAFAZZIN
resolver
genesymbol
TAZ
resolver
genesymbol_syn
EFE2
resolver
genesymbol_syn
G4.5
resolver
genesymbol_syn
TAZ
resolver
hgnc
HGNC:11577
resolver
uniprot
A0A087X0T0
resolver
uniprot
A0A0S2Z4E6
resolver
uniprot
A0A0S2Z4F4
resolver
uniprot
A0A0S2Z4K0
resolver
uniprot
A0A0S2Z4K9
resolver
uniprot
A0ACM8QDR7
resolver
uniprot
A3KQT2
resolver
uniprot
A6XNE1
resolver
uniprot
D3DWX2
resolver
uniprot
Q5HY43
resolver
uniprot
Q5HY44
resolver
uniprot
Q5HY45
resolver
uniprot
Q5HY48
resolver
uniprot
Q86XQ6
resolver
uniprot
Q86XQ7
resolver
uniprot
Q86XQ8
resolver
uniprot
Q86XQ9
resolver
uniprot
Q86XR0
resolver
uniprot_entry
A0A0S2Z4E6_HUMAN
resolver
uniprot_entry
A0A0S2Z4F4_HUMAN
resolver
uniprot_entry
A0A0S2Z4K0_HUMAN
resolver
uniprot_entry
A0A0S2Z4K9_HUMAN
resolver
uniprot_entry
A0ACM8QDR7_HUMAN
resolver
uniprot_entry
A6XNE1_HUMAN
resolver
uniprot_entry
TAZ_HUMAN
resolver
uniprot_sec
A0A087X0T0
resolver
uniprot_sec
A3KQT2
resolver
uniprot_sec
D3DWX2
resolver
uniprot_sec
Q5HY43
resolver
uniprot_sec
Q5HY44
resolver
uniprot_sec
Q5HY45
resolver
uniprot_sec
Q5HY48
resolver
uniprot_sec
Q86XQ6
resolver
uniprot_sec
Q86XQ7
resolver
uniprot_sec
Q86XQ8
resolver
uniprot_sec
Q86XQ9
resolver
uniprot_sec
Q86XR0
resolver
amino_acid_sequence
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTKYMNHLTVHNREVLYELIEKRGPATPLITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHGDWVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFGQKITVLIGKPFSALPVLERLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR
uniprot
proteins
disease_involvement
DISEASE: Barth syndrome (BTHS) [MIM:302060]: An X-linked disease characterized by dilated cardiomyopathy with endocardial fibroelastosis, a predominantly proximal skeletal myopathy, growth retardation, neutropenia, and organic aciduria, particularly excess of 3-methylglutaconic acid. Additional features include hypertrophic cardiomyopathy, isolated left ventricular non-compaction, ventricular arrhythmia, motor delay, poor appetite, fatigue and exercise intolerance, hypoglycemia, lactic acidosis, hyperammonemia, and dramatic late catch-up growth after growth delay throughout childhood. {ECO:0000269|PubMed:11238270, ECO:0000269|PubMed:12032589, ECO:0000269|PubMed:23409742, ECO:0000269|PubMed:26908608, ECO:0000269|PubMed:29129703, ECO:0000269|PubMed:9382096, ECO:0000269|PubMed:9382097}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.-
uniprot
proteins
function
FUNCTION: Acyltransferase required to remodel newly synthesized phospholipid cardiolipin (1',3'-bis-[1,2-diacyl-sn-glycero-3-phospho]-glycerol or CL), a key component of the mitochondrial inner membrane, with tissue specific acyl chains necessary for adequate mitochondrial function (PubMed:12930833, PubMed:19164547, PubMed:19700766, PubMed:26908608, PubMed:33096711). Its role in cellular physiology is to improve mitochondrial performance (PubMed:32234310). CL is critical for the coassembly of lipids and proteins in mitochondrial membranes, for instance, remodeling of the acyl groups of CL in the mitochondrial inner membrane affects the assembly and stability of respiratory chain complex IV and its supercomplex forms (By similarity). Catalyzes the transacylation between phospholipids and lysophospholipids, with the highest rate being between phosphatidylcholine (1,2-diacyl-sn-glycero-3-phosphocholine or PC) and CL. Catalyzes both 1-acyl-sn-glycero-3-phosphocholine (lysophosphatidylcholine or LPC) reacylation and PC-CL transacylation, that means, it exchanges acyl groups between CL and PC by a combination of forward and reverse transacylations. Also catalyzes transacylations between other phospholipids such as phosphatidylethanolamine (1,2-diacyl-sn-glycero-3-phosphoethanolamine or PE) and CL, between PC and PE, and between PC and phosphatidate (1,2-diacyl-sn-glycero-3-phosphate or PA), although at lower rate. Not regiospecific, it transfers acyl groups into any of the sn-1 and sn-2 positions of the monolysocardiolipin (MLCL), which is an important prerequisite for uniformity and symmetry in CL acyl distribution. Cannot transacylate dilysocardiolipin (DLCL), thus, the role of MLCL is limited to that of an acyl acceptor. CoA-independent, it can reshuffle molecular species within a single phospholipid class. Redistributes fatty acids between MLCL, CL, and other lipids, which prolongs the half-life of CL. Its action is completely reversible, which allows for cyclic changes, such as fission and fusion or bending and flattening of the membrane. Hence, by contributing to the flexibility of the lipid composition, it plays an important role in the dynamics of mitochondria membranes. Essential for the final stage of spermatogenesis, spermatid individualization (By similarity). Required for the initiation of mitophagy (PubMed:33096711). Required to ensure progression of spermatocytes through meiosis (By similarity). Exon 7 of human tafazzin is essential for catalysis (PubMed:19700766). {ECO:0000250|UniProtKB:Q06510, ECO:0000250|UniProtKB:Q91WF0, ECO:0000250|UniProtKB:Q9V6G5, ECO:0000269|PubMed:12930833, ECO:0000269|PubMed:19164547, ECO:0000269|PubMed:19700766, ECO:0000269|PubMed:26908608, ECO:0000269|PubMed:33096711, ECO:0000303|PubMed:19700766, ECO:0000303|PubMed:32234310}.; FUNCTION: [Isoform 1]: Catalyzes the transacylation between lysophosphatidate (such as 1-acyl-sn-glycero-3-phosphate) and phosphatidylglycerol (1,2-diacyl-sn-glycero-3-phospho-(1'-sn-glycerol)) (PubMed:19700766). Contributes to cardiolipin (1',3'-bis-[1,2-diacyl-sn-glycero-3-phospho]-glycerol or CL) remodeling (PubMed:12930833, PubMed:19700766). {ECO:0000269|PubMed:12930833, ECO:0000269|PubMed:19700766}.; FUNCTION: [Isoform 3]: Catalyzes the transacylation between lysophospholipids and phospholipids, and plays a fundamental role in cardiolipin (1',3'-bis-[1,2-diacyl-sn-glycero-3-phospho]-glycerol or CL) metabolism and remodeling. {ECO:0000269|PubMed:12930833, ECO:0000269|PubMed:19416660, ECO:0000269|PubMed:19700766}.; FUNCTION: [Isoform 5]: Catalytically inactive. {ECO:0000269|PubMed:12930833, ECO:0000269|PubMed:19700766}.; FUNCTION: [Isoform 7]: Catalytically inactive. {ECO:0000269|PubMed:19700766}.
uniprot
proteins
mass_dalton
30203
uniprot
proteins
pathway_participation
PATHWAY: Phospholipid metabolism. {ECO:0000305|PubMed:12930833, ECO:0000305|PubMed:19700766}.
uniprot
proteins
protein_family
Taffazin family
uniprot
proteins
pubmed
11238270
uniprot
proteins
pubmed
12032589
uniprot
proteins
pubmed
12930833
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15499385
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
19164547
uniprot
proteins
pubmed
19416660
uniprot
proteins
pubmed
19700766
uniprot
proteins
pubmed
23409742
uniprot
proteins
pubmed
25598000
uniprot
proteins
pubmed
25941633
uniprot
proteins
pubmed
26908608
uniprot
proteins
pubmed
29129703
uniprot
proteins
pubmed
32234310
uniprot
proteins
pubmed
33096711
uniprot
proteins
pubmed
8630491
uniprot
proteins
pubmed
9382096
uniprot
proteins
pubmed
9382097
uniprot
proteins
sequence_length
262
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:26908608}; Peripheral membrane protein {ECO:0000305|PubMed:26908608}; Intermembrane side {ECO:0000305|PubMed:26908608}. Mitochondrion inner membrane {ECO:0000269|PubMed:26908608}; Peripheral membrane protein {ECO:0000305|PubMed:26908608}; Intermembrane side {ECO:0000305|PubMed:26908608}.; SUBCELLULAR LOCATION: [Isoform 1]: Mitochondrion membrane {ECO:0000269|PubMed:19700766, ECO:0000269|PubMed:29129703}.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm {ECO:0000305}.; SUBCELLULAR LOCATION: [Isoform 3]: Mitochondrion membrane {ECO:0000269|PubMed:19700766, ECO:0000269|PubMed:29129703}.; SUBCELLULAR LOCATION: [Isoform 5]: Mitochondrion membrane {ECO:0000269|PubMed:19700766}.; SUBCELLULAR LOCATION: [Isoform 6]: Cytoplasm {ECO:0000305}.; SUBCELLULAR LOCATION: [Isoform 7]: Mitochondrion membrane {ECO:0000269|PubMed:19700766}.; SUBCELLULAR LOCATION: [Isoform 8]: Cytoplasm {ECO:0000305}.; SUBCELLULAR LOCATION: [Isoform 9]: Cytoplasm {ECO:0000305}.
uniprot
proteins