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Tafazzin tafazzin, phospholipid-lysophospholipid transacylase [ Mus musculus (house mouse) ]

Gene ID: 66826, updated on 25-May-2024

Summary

Official Symbol
Tafazzinprovided by MGI
Official Full Name
tafazzin, phospholipid-lysophospholipid transacylaseprovided by MGI
Primary source
MGI:MGI:109626
See related
Ensembl:ENSMUSG00000009995 AllianceGenome:MGI:109626
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Taz; G4.5; 5031411C02Rik; 9130012G04Rik
Summary
This gene encodes a mitochondrial phospholipid-lysophospholipid transacylase necessary for normal composition and content of cardiolipin. In humans, mutations of this gene result in Barth syndrome, most often characterized by cardioskeletal myopathy, neutropenia and abnormal mitochondria. This gene is distinct from the gene encoding transcriptional coactivator with PDZ binding motif. Both genes share the gene symbol Taz. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]
Annotation information
Note: Wwtr1 (Gene ID: 97064) and Taz (Gene ID: 66826) loci share the Taz symbol/alias in common. [08 Feb 2019]
Expression
Ubiquitous expression in bladder adult (RPKM 22.8), genital fat pad adult (RPKM 22.0) and 28 other tissues See more
Orthologs
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Genomic context

See Tafazzin in Genome Data Viewer
Location:
X A7.3; X 37.95 cM
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (73325498..73340182)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (74281900..74295319)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene deoxyribonuclease 1-like 1 Neighboring gene microRNA 7091 Neighboring gene predicted gene 14846 Neighboring gene STARR-positive B cell enhancer ABC_E7694 Neighboring gene ATPase, H+ transporting, lysosomal accessory protein 1 Neighboring gene GDP dissociation inhibitor 1

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 1-acylglycerophosphocholine O-acyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables 1-acylglycerophosphocholine O-acyltransferase activity ISO
Inferred from Sequence Orthology
more info
 
enables acyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in cardiac muscle contraction ISO
Inferred from Sequence Orthology
more info
 
involved_in cardiac muscle tissue development ISO
Inferred from Sequence Orthology
more info
 
involved_in cardiolipin acyl-chain remodeling IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cardiolipin biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
involved_in cardiolipin metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cardiolipin metabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in cristae formation ISO
Inferred from Sequence Orthology
more info
 
involved_in heart development ISO
Inferred from Sequence Orthology
more info
 
involved_in heart morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in hemopoiesis ISO
Inferred from Sequence Orthology
more info
 
involved_in inner mitochondrial membrane organization IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in mitochondrial ATP synthesis coupled electron transport ISO
Inferred from Sequence Orthology
more info
 
involved_in mitochondrial respiratory chain complex I assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in mitochondrion organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mitophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mitophagy ISO
Inferred from Sequence Orthology
more info
 
involved_in muscle contraction ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within phosphatidylglycerol metabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in phospholipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in skeletal muscle tissue development ISO
Inferred from Sequence Orthology
more info
 
involved_in spermatocyte division IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrial inner membrane ISO
Inferred from Sequence Orthology
more info
 
is_active_in mitochondrial membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in mitochondrial outer membrane ISO
Inferred from Sequence Orthology
more info
 
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
tafazzin
NP_001167018.1
NP_001229544.1
NP_001229545.1
NP_001277667.1
NP_852657.1
XP_006528307.1
XP_006528309.1
XP_006528310.1
XP_006528311.1
XP_006528312.1
XP_006528313.1
XP_011245964.1
XP_011245966.1
XP_030107341.1
XP_030107342.1
XP_030107343.1
XP_036017969.1
XP_036017970.1
XP_036017971.1

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.

mRNA and Protein(s)

  1. NM_001173547.2NP_001167018.1  tafazzin isoform 1

    See identical proteins and their annotated locations for NP_001167018.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL807376
    Consensus CDS
    CCDS53107.1
    UniProtKB/TrEMBL
    I7HJS2, J3JS92
    Related
    ENSMUSP00000109818.5, ENSMUST00000114180.11
    Conserved Domains (1) summary
    cd07989
    Location:34242
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
  2. NM_001242615.2NP_001229544.1  tafazzin isoform 3

    See identical proteins and their annotated locations for NP_001229544.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon in the 3' coding region, which results in a frameshift, compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AL807376
    UniProtKB/TrEMBL
    Q8BMZ3
    Related
    ENSMUSP00000135593.2, ENSMUST00000114182.11
    Conserved Domains (1) summary
    pfam01553
    Location:41186
    Acyltransferase
  3. NM_001242616.2NP_001229545.1  tafazzin isoform 4

    See identical proteins and their annotated locations for NP_001229545.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an exon and uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The resulting protein (isoform 4) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK160327, AL807376
    Consensus CDS
    CCDS57764.1
    UniProtKB/TrEMBL
    Q8BMZ3
    Related
    ENSMUSP00000134745.2, ENSMUST00000124200.8
    Conserved Domains (1) summary
    pfam01553
    Location:41185
    Acyltransferase
  4. NM_001290738.1NP_001277667.1  tafazzin isoform 5

    See identical proteins and their annotated locations for NP_001277667.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two alternate exons in the 3' coding region, which results in a frameshift, compared to variant 1. This resulting protein (isoform 5) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK160327, AL807376, CD807936
    Consensus CDS
    CCDS72400.1
    UniProtKB/TrEMBL
    H3BK99, Q8BMZ3
    Related
    ENSMUSP00000135308.2, ENSMUST00000132437.8
    Conserved Domains (1) summary
    cl17185
    Location:41159
    LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis
  5. NM_181516.6NP_852657.1  tafazzin isoform 2

    See identical proteins and their annotated locations for NP_852657.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2) compared to isoform 1.
    Source sequence(s)
    AL807376
    Consensus CDS
    CCDS30224.1
    UniProtKB/Swiss-Prot
    Q810E8, Q91WF0
    UniProtKB/TrEMBL
    J3JS92
    Related
    ENSMUSP00000065270.7, ENSMUST00000069722.13
    Conserved Domains (1) summary
    cd07989
    Location:34241
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    73325498..73340182
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006528244.3XP_006528307.1  tafazzin isoform X1

    See identical proteins and their annotated locations for XP_006528307.1

    UniProtKB/TrEMBL
    I7HJS2, J3JS92
    Conserved Domains (1) summary
    cd07989
    Location:34242
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
  2. XM_006528246.3XP_006528309.1  tafazzin isoform X2

    See identical proteins and their annotated locations for XP_006528309.1

    UniProtKB/Swiss-Prot
    Q810E8, Q91WF0
    UniProtKB/TrEMBL
    J3JS92
    Conserved Domains (1) summary
    cd07989
    Location:34241
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
  3. XM_006528247.4XP_006528310.1  tafazzin isoform X3

    UniProtKB/TrEMBL
    J3JS92
    Conserved Domains (1) summary
    cd07989
    Location:34215
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
  4. XM_006528248.4XP_006528311.1  tafazzin isoform X4

    UniProtKB/TrEMBL
    J3JS92
    Conserved Domains (1) summary
    cd07989
    Location:34214
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
  5. XM_011247662.2XP_011245964.1  tafazzin isoform X5

    UniProtKB/TrEMBL
    Q8BMZ3
    Conserved Domains (1) summary
    pfam01553
    Location:41186
    Acyltransferase
  6. XM_030251481.2XP_030107341.1  tafazzin isoform X6

    UniProtKB/TrEMBL
    Q8BMZ3
    Conserved Domains (1) summary
    pfam01553
    Location:41185
    Acyltransferase
  7. XM_036162077.1XP_036017970.1  tafazzin isoform X9

    UniProtKB/TrEMBL
    Q8BMZ3
    Conserved Domains (1) summary
    pfam01553
    Location:41186
    Acyltransferase
  8. XM_030251482.2XP_030107342.1  tafazzin isoform X10

    UniProtKB/TrEMBL
    Q8BMZ3
    Conserved Domains (1) summary
    pfam01553
    Location:41185
    Acyltransferase
  9. XM_036162078.1XP_036017971.1  tafazzin isoform X13

    UniProtKB/TrEMBL
    Q8BMZ3
    Conserved Domains (1) summary
    cl17185
    Location:41158
    LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis
  10. XM_006528249.3XP_006528312.1  tafazzin isoform X7

    See identical proteins and their annotated locations for XP_006528312.1

    UniProtKB/TrEMBL
    Q8BMZ3
    Conserved Domains (1) summary
    pfam01553
    Location:41186
    Acyltransferase
  11. XM_006528250.4XP_006528313.1  tafazzin isoform X8

    See identical proteins and their annotated locations for XP_006528313.1

    UniProtKB/TrEMBL
    Q8BMZ3
    Conserved Domains (1) summary
    pfam01553
    Location:41185
    Acyltransferase
  12. XM_011247664.2XP_011245966.1  tafazzin isoform X11

    See identical proteins and their annotated locations for XP_011245966.1

    UniProtKB/TrEMBL
    H3BK99, Q8BMZ3
    Conserved Domains (1) summary
    cl17185
    Location:41159
    LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis
  13. XM_030251483.2XP_030107343.1  tafazzin isoform X12

    UniProtKB/TrEMBL
    Q8BMZ3
    Conserved Domains (1) summary
    cl17185
    Location:41158
    LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis
  14. XM_036162076.1XP_036017969.1  tafazzin isoform X2

    UniProtKB/Swiss-Prot
    Q810E8, Q91WF0
    UniProtKB/TrEMBL
    J3JS92
    Conserved Domains (1) summary
    cd07989
    Location:34241
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like

RNA

  1. XR_003953022.2 RNA Sequence

  2. XR_386926.4 RNA Sequence

  3. XR_004940360.1 RNA Sequence

    Related
    ENSMUST00000156212.8
  4. XR_003953023.2 RNA Sequence