Human Gene TAZ (uc010nuy.3) Description and Page Index
Description: Homo sapiens tafazzin (TAZ), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.
RefSeq Summary (NM_181312): 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].
Transcript (Including UTRs)
Position: hg19 chrX:153,640,181-153,650,063 Size: 9,883 Total Exon Count: 10 Strand: +
Position: hg19 chrX:153,640,181-153,649,343 Size: 9,163 Coding Exon Count: 10
Data last updated: 2013-06-14
Sequence and Links to Tools and Databases
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive):
TAZ CDC HuGE Published Literature:
MalaCards Disease Associations
MalaCards Gene Search:
TAZ Diseases sorted by gene-association score: barth syndrome* (1735), endocardial fibroelastosis* (171), familial isolated dilated cardiomyopathy* (111), familial isolated noncompaction of left ventricular myocardium* (100), taz-related dilated cardiomyopathy* (100), x-linked disease (24), left ventricular noncompaction* (19), endocardium disease (18), dmd-associated dilated cardiomyopathy (14), dilated cardiomyopathy (13), neutropenia (12), anomalous left coronary artery from the pulmonary artery (11), cardiomyopathy (9), interstitial myocarditis (9), 3-methylglutaconic aciduria (9), sjogren-larsson syndrome (6), 3-methylglutaconic aciduria, type v (5), heart disease (5), myopathy (4), intrinsic cardiomyopathy (1), cardiomyopathy, familial hypertrophic (1) * = Manually curated disease association
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
InterPro Domains: Graphical view of domain structure IPR002123 - Acyltransferase
IPR000872 - Tafazzin
Pfam Domains: PF01553 - Acyltransferase
SCOP Domains: 69593 - Glycerol-3-phosphate (1)-acyltransferase
ModBase Predicted Comparative 3D Structure on A6XNE1
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Mouse Rat Zebrafish D. melanogaster C. elegans S. cerevisiae
No ortholog No ortholog No ortholog No ortholog No ortholog No ortholog
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0016746 transferase activity, transferring acyl groups
Biological Process: GO:0006644 phospholipid metabolic process
GO:0008152 metabolic process
Descriptions from all associated GenBank mRNAs
LF211540 - JP 2014500723-A/19043: Polycomb-Associated Non-Coding RNAs. X92762 - H.sapiens mRNA for tafazzins protein. BC005062 - Homo sapiens tafazzin, mRNA (cDNA clone IMAGE:3342887). AK291848 - Homo sapiens cDNA FLJ77337 complete cds, highly similar to Homo sapiens tafazzin (cardiomyopathy, dilated 3A (X-linked); endocardial fibroelastosis 2; Barth syndrome) (TAZ), transcript variant 1, mRNA. AY231461 - Homo sapiens tafazzin exon 5 deleted variant long form (G4.5) mRNA, complete cds. AY231462 - Homo sapiens tafazzin exon 7 deleted variant long form (G4.5) mRNA, complete cds. AY231463 - Homo sapiens tafazzin exon 5 and exon 7 deleted variant long form (G4.5) mRNA, complete cds. AY231464 - Homo sapiens tafazzin long form (G4.5) mRNA, complete cds. AY258036 - Homo sapiens tafazzin short form (G4.5) mRNA, complete cds. AY258037 - Homo sapiens tafazzin exon 5 and exon 7 deleted variant short form (G4.5) mRNA, complete cds. AY258038 - Homo sapiens tafazzin exon 7 deleted variant short form (G4.5) mRNA, complete cds. AY258039 - Homo sapiens tafazzin exon 5 deleted variant short form (G4.5) mRNA, complete cds. AM392997 - Synthetic construct Homo sapiens clone IMAGE:100002386 for hypothetical protein (TAZ gene). AM393205 - Synthetic construct Homo sapiens clone IMAGE:100002385 for hypothetical protein (TAZ gene). KU178348 - Homo sapiens tafazzin isoform 1 (TAZ) mRNA, partial cds, alternatively spliced. KU178349 - Homo sapiens tafazzin isoform 2 (TAZ) mRNA, partial cds. KU178350 - Homo sapiens tafazzin isoform 3 (TAZ) mRNA, partial cds. KU178351 - Homo sapiens tafazzin isoform 4 (TAZ) mRNA, complete cds, alternatively spliced. KU178352 - Homo sapiens tafazzin isoform 5 (TAZ) mRNA, partial cds. KU178353 - Homo sapiens tafazzin isoform 6 (TAZ) mRNA, partial cds. KJ901778 - Synthetic construct Homo sapiens clone ccsbBroadEn_11172 TAZ gene, encodes complete protein. KR709695 - Synthetic construct Homo sapiens clone CCSBHm_00005231 TAZ (TAZ) mRNA, encodes complete protein. KR709696 - Synthetic construct Homo sapiens clone CCSBHm_00005239 TAZ (TAZ) mRNA, encodes complete protein. KR709697 - Synthetic construct Homo sapiens clone CCSBHm_00005241 TAZ (TAZ) mRNA, encodes complete protein. KR709698 - Synthetic construct Homo sapiens clone CCSBHm_00005245 TAZ (TAZ) mRNA, encodes complete protein. DQ884408 - Homo sapiens clone BFC06057 tafazzin isoform 3 mRNA, complete cds. LF380859 - JP 2014500723-A/188362: Polycomb-Associated Non-Coding RNAs. JD470548 - Sequence 451572 from Patent EP1572962. X87198 - H.sapiens mRNA for G4.5 gene. X74607 - H.sapiens XAP-2 mRNA. JD361787 - Sequence 342811 from Patent EP1572962. JD368597 - Sequence 349621 from Patent EP1572962. JD287964 - Sequence 268988 from Patent EP1572962. AK130900 - Homo sapiens cDNA FLJ27390 fis, clone WMC00650, highly similar to Tafazzin. JD174710 - Sequence 155734 from Patent EP1572962. JD478223 - Sequence 459247 from Patent EP1572962. JD412279 - Sequence 393303 from Patent EP1572962. JD141165 - Sequence 122189 from Patent EP1572962. JD559968 - Sequence 540992 from Patent EP1572962. JD217590 - Sequence 198614 from Patent EP1572962. JD454789 - Sequence 435813 from Patent EP1572962. JD260067 - Sequence 241091 from Patent EP1572962. JD068447 - Sequence 49471 from Patent EP1572962. JD187546 - Sequence 168570 from Patent EP1572962. JD371433 - Sequence 352457 from Patent EP1572962. JD337930 - Sequence 318954 from Patent EP1572962. JD464005 - Sequence 445029 from Patent EP1572962. JD148818 - Sequence 129842 from Patent EP1572962. JD114617 - Sequence 95641 from Patent EP1572962. JD049335 - Sequence 30359 from Patent EP1572962. JD210576 - Sequence 191600 from Patent EP1572962. JD055621 - Sequence 36645 from Patent EP1572962. JD038863 - Sequence 19887 from Patent EP1572962. JD074984 - Sequence 56008 from Patent EP1572962. JD549958 - Sequence 530982 from Patent EP1572962. JD418387 - Sequence 399411 from Patent EP1572962. JD185096 - Sequence 166120 from Patent EP1572962. LF380863 - JP 2014500723-A/188366: Polycomb-Associated Non-Coding RNAs. JD456614 - Sequence 437638 from Patent EP1572962. JD319044 - Sequence 300068 from Patent EP1572962. JD040939 - Sequence 21963 from Patent EP1572962. JD198224 - Sequence 179248 from Patent EP1572962. JD074427 - Sequence 55451 from Patent EP1572962. JD066545 - Sequence 47569 from Patent EP1572962. JD541964 - Sequence 522988 from Patent EP1572962. JD095800 - Sequence 76824 from Patent EP1572962. JD086361 - Sequence 67385 from Patent EP1572962. JD288575 - Sequence 269599 from Patent EP1572962. MA447117 - JP 2018138019-A/19043: Polycomb-Associated Non-Coding RNAs. MA616436 - JP 2018138019-A/188362: Polycomb-Associated Non-Coding RNAs. MA616440 - JP 2018138019-A/188366: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa00564 - Glycerophospholipid metabolism
Other Names for This Gene
Alternate Gene Symbols: A6XNE1, A6XNE1_HUMAN, DQ884408, NM_181312, NP_851829 UCSC ID: uc010nuy.3 RefSeq Accession: NM_181312
GeneReviews for This Gene
GeneReviews article(s) related to gene TAZ: (Barth Syndrome) barth (Dilated Cardiomyopathy Overview) dcm-ov
Gene Model Information
10 CDS single in 3' UTR:
891 CDS single in intron:
Alignment % ID:
1882.00 frame shift in genome:
has start codon:
stop codon in genome:
# of Alignments:
has end codon:
# AT/AC introns
end bleed into intron:
0 # strange splices:
for a detailed description of the fields of the table above.
Methods, Credits, and Use Restrictions
for details on how this gene model was made and data restrictions if any.