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TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase [ Homo sapiens (human) ]

Gene ID: 6901, updated on 27-Nov-2024

Summary

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Official Symbol
TAFAZZINprovided by HGNC
Official Full Name
tafazzin, phospholipid-lysophospholipid transacylaseprovided by HGNC
Primary source
HGNC:HGNC:11577
See related
Ensembl:ENSG00000102125 MIM:300394; AllianceGenome:HGNC:11577
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EFE; TAZ; BTHS; EFE2; G4.5; Taz1; CMD3A; LVNCX
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]
Annotation information
Note: TAZ (GeneID 6901) and WWTR1 (GeneID 25937) loci share the TAZ symbol/alias in common. TAZ is a widely used alternative name for the transcriptional coactivator with PDZ-binding motif (WWTR1) conflicting with the official symbol for tafazzin (TAZ). [19 Jun 2012]
Expression
Ubiquitous expression in bone marrow (RPKM 11.6), spleen (RPKM 10.8) and 25 other tissues See more
Orthologs
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Genomic context

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See TAFAZZIN in Genome Data Viewer
Location:
Xq28
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (154411539..154421726)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152648045..152658233)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153639875..153650065)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene Xq28 distal FLNA-EMD recombination region Neighboring gene uncharacterized LOC124905228 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21099 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21100 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153626083-153626628 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30060 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153627173-153627718 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153627719-153628262 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153628263-153628808 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153628809-153629352 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30061 Neighboring gene ribosomal protein L10 Neighboring gene small nucleolar RNA, H/ACA box 70 Neighboring gene deoxyribonuclease 1 like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21101 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:153641748-153641921 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153647927-153648428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153648429-153648928 Neighboring gene ATP6AP1 divergent transcript Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153656739-153657240 Neighboring gene ATPase H+ transporting accessory protein 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy. Man E, et al. BMJ Case Rep, 2013 Jan 22. PMID 23345479, Free PMC Article
  2. The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. D'Adamo P, et al. Am J Hum Genet, 1997 Oct. PMID 9382096, Free PMC Article
  3. Clinical and Echocardiographic Impact of Tafazzin Variants on Dilated Cardiomyopathy Phenotype in Left Ventricular Non-Compaction Patients in Early Infancy. Hirono K, et al. Circ J, 2018 Sep 25. PMID 30122738
  4. BARTH SYNDROME IN MALE AND FEMALE SIBLINGS CAUSED BY A NOVEL MUTATION IN THE TAZ GENE. Avdjieva-Tzavella DM, et al. Genet Couns, 2016. PMID 30226969
  5. Familial occurrence of the contracted form of endocardial fibroelastosis. Fixler DE, et al. Am J Cardiol, 1970 Aug. PMID 5455540

See all (133) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. TAZ upregulates MIR-224 to inhibit oxidative stress response in multiple myeloma.
    Title: TAZ upregulates MIR-224 to inhibit oxidative stress response in multiple myeloma.
  2. Analysis of tafazzin and deoxyribonuclease 1 like 1 transcripts and X chromosome sequencing in the evaluation of the effect of mosaicism in the TAZ gene on phenotypes in a family affected by Barth syndrome.
    Title: Analysis of tafazzin and deoxyribonuclease 1 like 1 transcripts and X chromosome sequencing in the evaluation of the effect of mosaicism in the TAZ gene on phenotypes in a family affected by Barth syndrome.
  3. N-oleoylethanolamide treatment of lymphoblasts deficient in Tafazzin improves cell growth and mitochondrial morphology and dynamics.
    Title: N-oleoylethanolamide treatment of lymphoblasts deficient in Tafazzin improves cell growth and mitochondrial morphology and dynamics.
  4. miR125a5p reverses epithelialmesenchymal transition and restores drug sensitivity by negatively regulating TAFAZZIN signaling in breast cancer.
    Title: miR‑125a‑5p reverses epithelial‑mesenchymal transition and restores drug sensitivity by negatively regulating TAFAZZIN signaling in breast cancer.
  5. Diverse mitochondrial abnormalities in a new cellular model of TAFFAZZIN deficiency are remediated by cardiolipin-interacting small molecules.
    Title: Diverse mitochondrial abnormalities in a new cellular model of TAFFAZZIN deficiency are remediated by cardiolipin-interacting small molecules.
  6. Tafazzin Mutation Affecting Cardiolipin Leads to Increased Mitochondrial Superoxide Anions and Mitophagy Inhibition in Barth Syndrome.
    Title: Tafazzin Mutation Affecting Cardiolipin Leads to Increased Mitochondrial Superoxide Anions and Mitophagy Inhibition in Barth Syndrome.
  7. The Function of Tafazzin, a Mitochondrial Phospholipid-Lysophospholipid Acyltransferase.
    Title: The Function of Tafazzin, a Mitochondrial Phospholipid-Lysophospholipid Acyltransferase.
  8. Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.
    Title: Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.
  9. Truncated TEAD-binding protein of TAZ inhibits glioma survival through the induction of apoptosis and repression of epithelial-mesenchymal transition.
    Title: Truncated TEAD-binding protein of TAZ inhibits glioma survival through the induction of apoptosis and repression of epithelial-mesenchymal transition.
  10. This study demonstrated that overexpression of TAZ caused by downregulation of miR-125b promoted resistance of glioma cells to TRAIL. MiR-125b/TAZ axis may represent a potential strategy to reverse the TRAIL in glioma.
    Title: Downregulation of miR-125b promotes resistance of glioma cells to TRAIL through overexpression of Tafazzin which is a mitochondrial protein.
Submit: New GeneRIF Correction See all GeneRIFs (47)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ27390

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 1-acylglycerol-3-phosphate O-acyltransferase activity TAS
Traceable Author Statement
more info
  
enables 1-acylglycerophosphocholine O-acyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables 1-acylglycerophosphocholine O-acyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables 1-acylglycerophosphocholine O-acyltransferase activity TAS
Traceable Author Statement
more info
  
enables O-acyltransferase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in cardiac muscle contraction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cardiac muscle tissue development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cardiolipin acyl-chain remodeling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cardiolipin acyl-chain remodeling TAS
Traceable Author Statement
more info
 PubMed 
involved_in cardiolipin biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cardiolipin metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cardiolipin metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cristae formation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in heart development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in heart morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in hemopoiesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in inner mitochondrial membrane organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrial ATP synthesis coupled electron transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in mitochondrial respiratory chain complex I assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitochondrion organization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in mitophagy IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitophagy ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in muscle contraction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of ATP biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of cardiolipin metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in skeletal muscle tissue development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in spermatocyte division ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
is_active_in mitochondrial membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion HTP PubMed 
located_in mitochondrion IC
Inferred by Curator
more info
 PubMed 
is_active_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
tafazzin
Names
protein G4.5
NP_000107.1
NP_001290394.1
NP_001397627.1
NP_851828.1
NP_851829.1
NP_851830.1
XP_006724899.1
XP_006724900.1
XP_006724902.1
XP_011529491.1
XP_011529493.1
XP_016885250.1
XP_016885252.1
XP_016885253.1
XP_047298363.1
XP_047298364.1
XP_054183621.1
XP_054183622.1
XP_054183623.1
XP_054183624.1
XP_054183625.1
XP_054183626.1
XP_054183627.1
XP_054183628.1
XP_054183629.1
XP_054183630.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009634.2 RefSeqGene

    Range
    5005..15192
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_131

mRNA and Protein(s)

  1. NM_000116.5 → NP_000107.1  tafazzin isoform 1

    See identical proteins and their annotated locations for NP_000107.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the major isoform (1).
    Source sequence(s)
    AL531401, BC005062, X92762
    Consensus CDS
    CCDS14748.1
    UniProtKB/TrEMBL
    A0A0S2Z4K0, A0A494C004
    Related
    ENSP00000469981.1, ENST00000601016.6
    Conserved Domains (1) summary
    cd07989
    Location:34 → 271
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like

  2. NM_001303465.2 → NP_001290394.1  tafazzin isoform 5

    See identical proteins and their annotated locations for NP_001290394.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate in-frame splice junction in the 5' coding region and lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The resulting isoform (5) contains an alternate segment near the N-terminus and lacks an alternate segment near the C-terminus compared to isoform 1.
    Source sequence(s)
    AL531401, BC005062, DB192394, DQ884408, X92762
    Consensus CDS
    CCDS94701.1
    UniProtKB/TrEMBL
    A0A087X0T0, A0A494C004, A6XNE1
    Related
    ENSP00000483636.2, ENST00000616020.5
    Conserved Domains (1) summary
    cd07989
    Location:56 → 275
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like

  3. NM_001410698.1 → NP_001397627.1  tafazzin isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC244090, AC245140
    Consensus CDS
    CCDS94702.1
    UniProtKB/TrEMBL
    A0A499FJ53
    Related
    ENSP00000419854.3, ENST00000475699.6

  4. NM_181311.4 → NP_851828.1  tafazzin isoform 2

    See identical proteins and their annotated locations for NP_851828.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1, resulting in a shorter isoform (2) compared to isoform 1.
    Source sequence(s)
    AL531401, AY231461, BC005062, DB192394, X92762
    Consensus CDS
    CCDS14749.1
    UniProtKB/Swiss-Prot
    A3KQT2, D3DWX2, Q16635, Q5HY43, Q5HY44, Q5HY45, Q5HY48, Q86XQ6, Q86XQ7, Q86XQ8, Q86XQ9, Q86XR0
    UniProtKB/TrEMBL
    A0A0S2Z4E6, A0A494C004
    Related
    ENSP00000481037.1, ENST00000612460.5
    Conserved Domains (1) summary
    cd07989
    Location:34 → 241
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like

  5. NM_181312.4 → NP_851829.1  tafazzin isoform 3

    See identical proteins and their annotated locations for NP_851829.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame coding exon compared to variant 1, resulting in a shorter isoform (3) compared to isoform 1.
    Source sequence(s)
    AL531401, AY231462, BC005062, DB192394, X92762
    Consensus CDS
    CCDS14750.1
    UniProtKB/TrEMBL
    A0A0S2Z4K9, A0A494C004
    Related
    ENSP00000482070.2, ENST00000612012.5
    Conserved Domains (1) summary
    cd07989
    Location:34 → 257
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like

  6. NM_181313.4 → NP_851830.1  tafazzin isoform 4

    See identical proteins and their annotated locations for NP_851830.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two in-frame coding exons compared to variant 1, resulting in a shorter isoform (4) compared to isoform 1.
    Source sequence(s)
    AL531401, AY231463, BC005062, DB192394, X92762
    Consensus CDS
    CCDS35450.1
    UniProtKB/TrEMBL
    A0A0S2Z4F4, F6Y2X3
    Related
    ENSP00000478154.1, ENST00000613002.4
    Conserved Domains (1) summary
    cd07989
    Location:34 → 227
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like

RNA

  1. NR_024048.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses an alternate donor splice site at one of the coding exons, and is also lacking an internal coding exon compared to variant 1. This results in premature translation termination rendering this transcript susceptible to NMD. This variant has transcript support, but is not expected to encode a viable protein product.
    Source sequence(s)
    AL531401, BC005062
    Related
    ENST00000615986.4

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    154411539..154421726
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724836.2 → XP_006724899.1  tafazzin isoform X1

    UniProtKB/TrEMBL
    A0A494C004
    Related
    ENSP00000498858.1, ENST00000652390.1
    Conserved Domains (1) summary
    cd07989
    Location:56 → 289
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like

  2. XM_006724837.2 → XP_006724900.1  tafazzin isoform X2

    UniProtKB/TrEMBL
    F6Y2X3
    Related
    ENSP00000358791.4, ENST00000369776.8
    Conserved Domains (2) summary
    COG0204
    Location:60 → 294
    PlsC; 1-acyl-sn-glycerol-3-phosphate acyltransferase [Lipid transport and metabolism]
    pfam01553
    Location:59 → 169
    Acyltransferase; Acyltransferase

  3. XM_006724839.2 → XP_006724902.1  tafazzin isoform X4

    UniProtKB/TrEMBL
    F6Y2X3
    Conserved Domains (1) summary
    cd07989
    Location:56 → 245
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like

  4. XM_011531189.2 → XP_011529491.1  tafazzin isoform X5

    Conserved Domains (1) summary
    cl17185
    Location:59 → 142
    LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis

  5. XM_017029761.2 → XP_016885250.1  tafazzin isoform X3

    UniProtKB/TrEMBL
    F6Y2X3

  6. XM_017029763.2 → XP_016885252.1  tafazzin isoform X7

  7. XM_047442407.1 → XP_047298363.1  tafazzin isoform X6

    UniProtKB/TrEMBL
    A0A494C0C5
    Related
    ENSP00000498464.1, ENST00000652358.1

  8. XM_047442408.1 → XP_047298364.1  tafazzin isoform X10

  9. XM_011531191.3 → XP_011529493.1  tafazzin isoform X8

    UniProtKB/TrEMBL
    A0A494C0V5
    Related
    ENSP00000498734.1, ENST00000652354.1
    Conserved Domains (1) summary
    cd07989
    Location:58 → 179
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like

  10. XM_017029764.2 → XP_016885253.1  tafazzin isoform X9

    UniProtKB/TrEMBL
    A0A494C0V5
    Conserved Domains (1) summary
    cd07989
    Location:57 → 178
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    152648045..152658233
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327646.1 → XP_054183621.1  tafazzin isoform X1

  2. XM_054327647.1 → XP_054183622.1  tafazzin isoform X2

  3. XM_054327649.1 → XP_054183624.1  tafazzin isoform X4

  4. XM_054327650.1 → XP_054183625.1  tafazzin isoform X5

  5. XM_054327648.1 → XP_054183623.1  tafazzin isoform X3

  6. XM_054327652.1 → XP_054183627.1  tafazzin isoform X7

  7. XM_054327651.1 → XP_054183626.1  tafazzin isoform X6

    UniProtKB/TrEMBL
    A0A494C0C5

  8. XM_054327655.1 → XP_054183630.1  tafazzin isoform X10

  9. XM_054327653.1 → XP_054183628.1  tafazzin isoform X8

  10. XM_054327654.1 → XP_054183629.1  tafazzin isoform X9

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_181314.1: Suppressed sequence

    Description
    NM_181314.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q16635.2 GenPept UniProtKB/Swiss-Prot:Q16635

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